#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
AADACL2	344752	genome.wustl.edu	37	3	151475084	151475084	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:151475084G>A	ENST00000356517.3	+	5	1017	c.908G>A	c.(907-909)gGa>gAa	p.G303E	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	303						extracellular region (GO:0005576)|integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCAATTCTTGGAGGACTTAGT	0.378																																																	0													122.0	124.0	123.0					3																	151475084		2203	4298	6501	SO:0001583	missense	344752			BC065724	CCDS3161.2	3q25.1	2010-12-14			ENSG00000197953	ENSG00000197953			24427	protein-coding gene	gene with protein product							Standard	NM_207365		Approved	MGC72001	uc003ezc.3	Q6P093	OTTHUMG00000155914	ENST00000356517.3:c.908G>A	3.37:g.151475084G>A	ENSP00000348911:p.Gly303Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HYJ4	Missense_Mutation	SNP	pfam_AB_hydrolase_3,pfam_CarbesteraseB,pfam_Steryl_acetyl_hydrolase,pirsf_Arylacetamide_deacetylase	p.G303E	ENST00000356517.3	37	c.908	CCDS3161.2	3	.	.	.	.	.	.	.	.	.	.	G	18.27	3.587022	0.66105	.	.	ENSG00000197953	ENST00000356517	T	0.57436	0.4	4.9	4.9	0.64082	.	0.960224	0.08661	N	0.912483	T	0.65322	0.2680	L	0.38733	1.17	0.36696	D	0.87982	D	0.59767	0.986	D	0.65140	0.932	T	0.61525	-0.7045	10	0.34782	T	0.22	-30.864	17.8457	0.88729	0.0:0.0:1.0:0.0	.	303	Q6P093	ADCL2_HUMAN	E	303	ENSP00000348911:G303E	ENSP00000348911:G303E	G	+	2	0	AADACL2	152957774	0.307000	0.24500	0.834000	0.33040	0.504000	0.33889	2.549000	0.45803	2.555000	0.86185	0.591000	0.81541	GGA	AADACL2	-	pirsf_Arylacetamide_deacetylase		0.378	AADACL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AADACL2	HGNC	protein_coding	OTTHUMT00000342288.3	G	NM_207365		151475084	+1	no_errors	ENST00000356517	ensembl	human	known	70_37	missense	SNP	0.995	A
ABCA5	23461	genome.wustl.edu	37	17	67302965	67302965	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:67302965G>A	ENST00000392676.3	-	6	753	c.689C>T	c.(688-690)tCa>tTa	p.S230L	ABCA5_ENST00000392677.2_Missense_Mutation_p.S230L|ABCA5_ENST00000588877.1_Missense_Mutation_p.S230L			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	230					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	TCCAAAAGGTGAAAATGCTAT	0.323																																																	0													45.0	48.0	47.0					17																	67302965		2202	4296	6498	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.689C>T	17.37:g.67302965G>A	ENSP00000376443:p.Ser230Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.S230L	ENST00000392676.3	37	c.689	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.094174	0.94149	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	D;D	0.86097	-2.07;-2.07	5.13	5.13	0.70059	.	0.000000	0.48286	D	0.000181	D	0.92299	0.7557	M	0.81341	2.54	0.58432	D	0.999991	D;D	0.67145	0.989;0.996	P;D	0.67548	0.891;0.952	D	0.92509	0.6015	9	.	.	.	.	18.5867	0.91192	0.0:0.0:1.0:0.0	.	230;230	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	L	230	ENSP00000376444:S230L;ENSP00000376443:S230L	.	S	-	2	0	ABCA5	64814560	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.187000	0.89708	2.353000	0.79882	0.655000	0.94253	TCA	ABCA5	-	NULL		0.323	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	G	NM_018672		67302965	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	1.000	A
AATK	9625	genome.wustl.edu	37	17	79097112	79097112	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:79097112C>G	ENST00000326724.4	-	10	1018	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	AATK_ENST00000572339.1_5'Flank|AATK_ENST00000417379.1_Missense_Mutation_p.E229Q|MIR338_ENST00000390137.2_RNA|MIR657_ENST00000385003.1_RNA	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	332	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				brain development (GO:0007420)|negative regulation of axon extension (GO:0030517)|neuron apoptotic process (GO:0051402)|peptidyl-tyrosine autophosphorylation (GO:0038083)|Rab protein signal transduction (GO:0032482)	axonal growth cone (GO:0044295)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGCCCAGCTCAAAGAGCTCC	0.687																																																	0													10.0	14.0	13.0					17																	79097112		1610	3355	4965	SO:0001583	missense	9625			AB014541	CCDS45807.1, CCDS58607.1	17q25.3	2014-06-12			ENSG00000181409	ENSG00000181409			21	protein-coding gene	gene with protein product	"""lemur tyrosine kinase 1"", ""protein phosphatase 1, regulatory subunit 77"""	605276				9734811, 10083745	Standard	NM_001080395		Approved	AATYK, KIAA0641, LMTK1, LMR1, AATYK1, PPP1R77	uc010dia.3	Q6ZMQ8	OTTHUMG00000132717	ENST00000326724.4:c.994G>C	17.37:g.79097112C>G	ENSP00000324196:p.Glu332Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75136|Q6ZN31|Q86X28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E332Q	ENST00000326724.4	37	c.994	CCDS45807.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.125299|5.125299	0.94429|0.94429	.|.	.|.	ENSG00000181409|ENSG00000181409	ENST00000326724;ENST00000374792|ENST00000417379	D;D|.	0.89050|.	-2.46;-2.46|.	4.74|4.74	4.74|4.74	0.60224|0.60224	Serine-threonine/tyrosine-protein kinase (2);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71676|0.71676	0.3368|0.3368	L|L	0.61036|0.61036	1.89|1.89	0.58432|0.58432	D|D	0.999991|0.999991	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|T	0.71279|0.71279	-0.4640|-0.4640	10|5	0.66056|.	D|.	0.02|.	.|.	16.4985|16.4985	0.84251|0.84251	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	332|.	Q6ZMQ8|.	LMTK1_HUMAN|.	Q|F	332|284	ENSP00000324196:E332Q;ENSP00000363924:E332Q|.	ENSP00000324196:E332Q|.	E|L	-|-	1|3	0|2	AATK|AATK	76711707|76711707	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.933000|0.933000	0.57130|0.57130	7.307000|7.307000	0.78920|0.78920	2.171000|2.171000	0.68590|0.68590	0.462000|0.462000	0.41574|0.41574	GAG|TTG	AATK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.687	AATK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AATK	HGNC	protein_coding	OTTHUMT00000256055.1	C	NM_004920		79097112	-1	no_errors	ENST00000326724	ensembl	human	known	70_37	missense	SNP	1.000	G
ABCC8	6833	genome.wustl.edu	37	11	17432122	17432122	+	Missense_Mutation	SNP	C	C	T	rs531684936		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:17432122C>T	ENST00000389817.3	-	22	2703	c.2635G>A	c.(2635-2637)Gac>Aac	p.D879N	ABCC8_ENST00000302539.4_Missense_Mutation_p.D880N			Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	879	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|ion channel binding (GO:0044325)|potassium ion transmembrane transporter activity (GO:0015079)|sulfonylurea receptor activity (GO:0008281)			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Chlorpropamide(DB00672)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Gliquidone(DB01251)|Glyburide(DB01016)|Glycodiazine(DB01382)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolbutamide(DB01124)	GTCCTCTTGTCGTCCCGGAGC	0.582													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17498	0.0		0.0	False		,,,				2504	0.0																0													149.0	130.0	137.0					11																	17432122		2200	4293	6493	SO:0001583	missense	6833			L78207	CCDS31437.1, CCDS73264.1	11p15.1	2014-09-17			ENSG00000006071	ENSG00000006071		"""ATP binding cassette transporters / subfamily C"""	59	protein-coding gene	gene with protein product	"""sulfonylurea receptor (hyperinsulinemia)"""	600509		SUR, HRINS		7920639, 7716548	Standard	NM_000352		Approved	HI, PHHI, SUR1, MRP8, ABC36, HHF1, TNDM2	uc001mnc.3	Q09428	OTTHUMG00000166316	ENST00000389817.3:c.2635G>A	11.37:g.17432122C>T	ENSP00000374467:p.Asp879Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMX8|E3UYX6|O75948|Q16583	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,prints_Sulphorea_rcpt,prints_Surea_rcpt-1,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.D880N	ENST00000389817.3	37	c.2638	CCDS31437.1	11	.	.	.	.	.	.	.	.	.	.	C	37	5.978651	0.97168	.	.	ENSG00000006071	ENST00000389817;ENST00000302539;ENST00000379493	D;D	0.89050	-2.46;-2.46	6.17	6.17	0.99709	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.050131	0.85682	D	0.000000	T	0.81889	0.4918	N	0.16862	0.45	0.80722	D	1	P	0.41910	0.764	B	0.36534	0.227	T	0.82484	-0.0434	10	0.42905	T	0.14	.	19.0599	0.93085	0.0:1.0:0.0:0.0	.	879	Q09428	ABCC8_HUMAN	N	879;880;883	ENSP00000374467:D879N;ENSP00000303960:D880N	ENSP00000303960:D880N	D	-	1	0	ABCC8	17388698	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.506000	0.81665	2.941000	0.99782	0.655000	0.94253	GAC	ABCC8	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.582	ABCC8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCC8	HGNC	protein_coding	OTTHUMT00000389093.1	C	NM_000352		17432122	-1	no_errors	ENST00000302539	ensembl	human	known	70_37	missense	SNP	1.000	T
ABCG2	9429	genome.wustl.edu	37	4	89052332	89052332	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:89052332C>G	ENST00000237612.3	-	5	957	c.412G>C	c.(412-414)Gaa>Caa	p.E138Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.E138Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2 (Junior blood group)	138	ABC transporter. {ECO:0000255|PROSITE- ProRule:PRU00434}.				cellular iron ion homeostasis (GO:0006879)|drug export (GO:0046618)|drug transmembrane transport (GO:0006855)|embryonic process involved in female pregnancy (GO:0060136)|heme transport (GO:0015886)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|transport (GO:0006810)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|heme transporter activity (GO:0015232)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Afatinib(DB08916)|Apixaban(DB06605)|Buprenorphine(DB00921)|Cabazitaxel(DB06772)|Carboplatin(DB00958)|Cisplatin(DB00515)|Cladribine(DB00242)|Clofarabine(DB00631)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Dexamethasone(DB01234)|Diethylstilbestrol(DB00255)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Erlotinib(DB00530)|Estradiol(DB00783)|Estrone(DB00655)|Etoposide(DB00773)|Ezetimibe(DB00973)|Fluorouracil(DB00544)|Folic Acid(DB00158)|Gefitinib(DB00317)|Glyburide(DB01016)|Hesperetin(DB01094)|Hydrocortisone(DB00741)|Imatinib(DB00619)|Irinotecan(DB00762)|Ivermectin(DB00602)|Lamivudine(DB00709)|Lansoprazole(DB00448)|Leflunomide(DB01097)|Methotrexate(DB00563)|Mitoxantrone(DB01204)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Nilotinib(DB04868)|Nitrofurantoin(DB00698)|Novobiocin(DB01051)|Omeprazole(DB00338)|Oxaliplatin(DB00526)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Pitavastatin(DB08860)|Ponatinib(DB08901)|Pravastatin(DB00175)|Prazosin(DB00457)|Rabeprazole(DB01129)|Regorafenib(DB08896)|Rilpivirine(DB08864)|Riluzole(DB00740)|Ritonavir(DB00503)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Sorafenib(DB00398)|Sulfasalazine(DB00795)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tamoxifen(DB00675)|Telmisartan(DB00966)|Teniposide(DB00444)|Teriflunomide(DB08880)|Testosterone(DB00624)|Topotecan(DB01030)|Vandetanib(DB05294)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vincristine(DB00541)|Vismodegib(DB08828)|Zafirlukast(DB00549)|Zidovudine(DB00495)	TGTAAGTTTTCTCTCACCGTC	0.393																																																	0													204.0	184.0	191.0					4																	89052332		2203	4300	6503	SO:0001583	missense	9429			AF103796	CCDS3628.1, CCDS58910.1	4q22.1	2014-08-27	2014-08-27		ENSG00000118777	ENSG00000118777		"""CD molecules"", ""ATP binding cassette transporters / subfamily G"""	74	protein-coding gene	gene with protein product		603756	"""ATP-binding cassette, sub-family G (WHITE), member 2"""			8894702, 9861027	Standard	NM_001257386		Approved	EST157481, MXR, BCRP, ABCP, CD338	uc003hrg.3	Q9UNQ0	OTTHUMG00000130601	ENST00000237612.3:c.412G>C	4.37:g.89052332C>G	ENSP00000237612:p.Glu138Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0A1W3|A8K1T5|O95374|Q4W5I3|Q53ZQ1|Q569L4|Q5YLG4|Q86V64|Q8IX16|Q96LD6|Q96TA8|Q9BY73|Q9NUS0	Missense_Mutation	SNP	pfam_ABC_2_trans,pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E138Q	ENST00000237612.3	37	c.412	CCDS3628.1	4	.	.	.	.	.	.	.	.	.	.	C	33	5.268155	0.95429	.	.	ENSG00000118777	ENST00000515655;ENST00000237612	T;T	0.49432	0.78;0.78	5.37	5.37	0.77165	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.85682	D	0.000000	T	0.70107	0.3186	M	0.76170	2.325	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.998	D;D;D	0.74348	0.983;0.941;0.982	T	0.73052	-0.4104	10	0.87932	D	0	-1.9453	19.0867	0.93206	0.0:1.0:0.0:0.0	.	138;138;138	Q9UNQ0-2;Q9UNQ0;Q4W5I3	.;ABCG2_HUMAN;.	Q	138	ENSP00000426917:E138Q;ENSP00000237612:E138Q	ENSP00000237612:E138Q	E	-	1	0	ABCG2	89271356	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.699000	0.68310	2.677000	0.91161	0.655000	0.94253	GAA	ABCG2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.393	ABCG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCG2	HGNC	protein_coding	OTTHUMT00000253051.1	C	NM_004827		89052332	-1	no_errors	ENST00000237612	ensembl	human	known	70_37	missense	SNP	1.000	G
ABHD2	11057	genome.wustl.edu	37	15	89694980	89694980	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:89694980G>A	ENST00000352732.5	+	4	787	c.267G>A	c.(265-267)gtG>gtA	p.V89V	ABHD2_ENST00000355100.3_Silent_p.V89V|ABHD2_ENST00000565973.1_Silent_p.V89V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	89					negative regulation of cell migration (GO:0030336)|response to wounding (GO:0009611)	integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TGGGAAGGGTGAGGTCGCCAC	0.502																																					Colon(11;252 417 24570 33239 41878)												0													206.0	177.0	187.0					15																	89694980		2200	4299	6499	SO:0001819	synonymous_variant	11057			X12433	CCDS10348.1	15q26.1	2006-10-06			ENSG00000140526	ENSG00000140526		"""Abhydrolase domain containing"""	18717	protein-coding gene	gene with protein product		612196					Standard	NM_152924		Approved	LABH2	uc002bnk.2	P08910	OTTHUMG00000148684	ENST00000352732.5:c.267G>A	15.37:g.89694980G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G48|Q53GU0|Q5FVD9|Q8TC79	Silent	SNP	pfam_AB_hydrolase_1,pirsf_AB-Hydro_YheT	p.V89	ENST00000352732.5	37	c.267	CCDS10348.1	15																																																																																			ABHD2	-	pirsf_AB-Hydro_YheT		0.502	ABHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD2	HGNC	protein_coding	OTTHUMT00000309074.2	G			89694980	+1	no_errors	ENST00000352732	ensembl	human	known	70_37	silent	SNP	0.998	A
ACADS	35	genome.wustl.edu	37	12	121175948	121175948	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:121175948C>G	ENST00000242592.4	+	6	775				ACADS_ENST00000411593.2_Missense_Mutation_p.P190R|RP11-173P15.7_ENST00000542620.1_RNA	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain						butyrate catabolic process (GO:0046359)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA dehydrogenase (GO:0033539)|protein homotetramerization (GO:0051289)|response to glucocorticoid (GO:0051384)|response to starvation (GO:0042594)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	acyl-CoA dehydrogenase activity (GO:0003995)|butyryl-CoA dehydrogenase activity (GO:0004085)|fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			Flavin adenine dinucleotide(DB03147)	TGCACCTTCCCCAGAAGCCGG	0.637																																																	0																																										SO:0001627	intron_variant	35			M26393	CCDS9207.1	12q24.31	2012-07-13	2010-04-30		ENSG00000122971	ENSG00000122971	1.3.8.1		90	protein-coding gene	gene with protein product		606885	"""acyl-Coenzyme A dehydrogenase, C-2 to C-3 short chain"""			2565344	Standard	NM_000017		Approved	SCAD, ACAD3	uc001tza.4	P16219	OTTHUMG00000169203	ENST00000242592.4:c.625-135C>G	12.37:g.121175948C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	P78331	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase	p.P190R	ENST00000242592.4	37	c.569	CCDS9207.1	12	.	.	.	.	.	.	.	.	.	.	C	7.143	0.582153	0.13749	.	.	ENSG00000122971	ENST00000411593	D	0.97328	-4.34	3.74	1.82	0.25136	.	.	.	.	.	D	0.93795	0.8016	.	.	.	0.09310	N	1	B	0.23591	0.088	B	0.24394	0.053	D	0.87885	0.2680	8	0.87932	D	0	.	6.3364	0.21298	0.0:0.6257:0.1407:0.2336	.	190	E9PE82	.	R	190	ENSP00000401045:P190R	ENSP00000401045:P190R	P	+	2	0	ACADS	119660331	0.000000	0.05858	0.001000	0.08648	0.235000	0.25334	-0.014000	0.12656	0.195000	0.20347	0.462000	0.41574	CCC	ACADS	-	superfamily_AcylCoA_DH/oxidase		0.637	ACADS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACADS	HGNC	protein_coding	OTTHUMT00000402861.1	C	NM_000017		121175948	+1	no_errors	ENST00000411593	ensembl	human	novel	70_37	missense	SNP	0.003	G
ACIN1	22985	genome.wustl.edu	37	14	23533373	23533373	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:23533373G>A	ENST00000262710.1	-	12	3037	c.2710C>T	c.(2710-2712)Cgt>Tgt	p.R904C	ACIN1_ENST00000357481.2_Missense_Mutation_p.R146C|ACIN1_ENST00000557515.1_Missense_Mutation_p.R145C|ACIN1_ENST00000555053.1_Missense_Mutation_p.R891C|ACIN1_ENST00000397341.3_Missense_Mutation_p.R146C|ACIN1_ENST00000605057.1_Missense_Mutation_p.R846C|ACIN1_ENST00000338631.6_Missense_Mutation_p.R177C|ACIN1_ENST00000457657.1_Missense_Mutation_p.R864C	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	904					apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCGCCATTACGCTCTGTCTCA	0.572																																																	0													120.0	108.0	112.0					14																	23533373		2203	4300	6503	SO:0001583	missense	22985			AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.2710C>T	14.37:g.23533373G>A	ENSP00000262710:p.Arg904Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	pfam_SAP_DNA-bd,smart_SAP_DNA-bd,pfscan_SAP_DNA-bd	p.R904C	ENST00000262710.1	37	c.2710	CCDS9587.1	14	.	.	.	.	.	.	.	.	.	.	G	18.00	3.524924	0.64747	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053;ENST00000555566	T;T;T;T;T;T;T	0.17370	3.19;3.19;3.19;2.28;2.29;3.19;3.2	5.1	5.1	0.69264	.	0.000000	0.41097	D	0.000954	T	0.32526	0.0832	L	0.43152	1.355	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998	D;D;D;D;P	0.76071	0.987;0.982;0.982;0.919;0.891	T	0.00731	-1.1590	10	0.59425	D	0.04	-7.0906	12.832	0.57750	0.0:0.0:0.8365:0.1635	.	891;904;864;177;146	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	C	145;177;146;904;864;146;891;134	ENSP00000451138:R145C;ENSP00000345541:R177C;ENSP00000350073:R146C;ENSP00000262710:R904C;ENSP00000405677:R864C;ENSP00000380502:R146C;ENSP00000451328:R891C	ENSP00000262710:R904C	R	-	1	0	ACIN1	22603213	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	3.714000	0.54889	2.814000	0.96858	0.563000	0.77884	CGT	ACIN1	-	NULL		0.572	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ACIN1	HGNC	protein_coding	OTTHUMT00000071707.3	G	NM_014977		23533373	-1	no_errors	ENST00000262710	ensembl	human	known	70_37	missense	SNP	1.000	A
ACOX2	8309	genome.wustl.edu	37	3	58508292	58508292	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:58508292C>G	ENST00000302819.5	-	12	1854	c.1563G>C	c.(1561-1563)ctG>ctC	p.L521L	ACOX2_ENST00000481527.1_5'UTR|ACOX2_ENST00000459701.2_Silent_p.L507L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	521					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity (GO:0033791)|acyl-CoA dehydrogenase activity (GO:0003995)|acyl-CoA oxidase activity (GO:0003997)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CGGATTGCGTCAGGGTCTGTA	0.527																																																	0													135.0	117.0	123.0					3																	58508292		2203	4300	6503	SO:0001819	synonymous_variant	8309			X95190	CCDS33775.1	3p14.3	2012-07-13	2010-04-30		ENSG00000168306	ENSG00000168306	1.17.99.3		120	protein-coding gene	gene with protein product	"""trihydroxycoprostanoyl-CoA oxidase"", ""3-alpha,7-alpha,12-alpha-trihydroxy-5-beta-cholestanoyl-CoA 24-hydroxylase"""	601641	"""acyl-Coenzyme A oxidase 2, branched chain"""			8943006, 9070889	Standard	NM_003500		Approved	BRCACOX, BRCOX, THCCox	uc003dkl.3	Q99424	OTTHUMG00000159154	ENST00000302819.5:c.1563G>C	3.37:g.58508292C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF16|B2R8U5	Silent	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.L521	ENST00000302819.5	37	c.1563	CCDS33775.1	3																																																																																			ACOX2	-	pfam_Acyl-CoA_oxidase_C,superfamily_AcylCo_DH/oxidase_C,pirsf_Acyl-CoA_oxidase		0.527	ACOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX2	HGNC	protein_coding	OTTHUMT00000353541.1	C			58508292	-1	no_errors	ENST00000302819	ensembl	human	known	70_37	silent	SNP	0.952	G
ADAMTS16	170690	genome.wustl.edu	37	5	5239271	5239271	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:5239271G>A	ENST00000274181.7	+	15	2300	c.2162G>A	c.(2161-2163)gGa>gAa	p.G721E	ADAMTS16_ENST00000513709.1_3'UTR	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	721	Cys-rich.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGAGAGTTGGATGTGACAAT	0.493																																																	0													279.0	268.0	271.0					5																	5239271		2034	4184	6218	SO:0001583	missense	170690			AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.2162G>A	5.37:g.5239271G>A	ENSP00000274181:p.Gly721Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	C6G490|Q8IVE2	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Peptidase_M12B_N,pfam_Peptidase_M12B,pfam_Thrombospondin_1_rpt,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.G721E	ENST00000274181.7	37	c.2162	CCDS43299.1	5	.	.	.	.	.	.	.	.	.	.	G	31	5.092146	0.94149	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.69685	-0.42	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.89979	0.6872	H	0.98802	4.335	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.93533	0.6871	10	0.87932	D	0	.	18.925	0.92541	0.0:0.0:1.0:0.0	.	721;721	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	E	721	ENSP00000274181:G721E	ENSP00000274181:G721E	G	+	2	0	ADAMTS16	5292271	1.000000	0.71417	0.974000	0.42286	0.992000	0.81027	8.020000	0.88740	2.764000	0.94973	0.650000	0.86243	GGA	ADAMTS16	-	prints_Peptidase_M12B_ADAM-TS		0.493	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS16	HGNC	protein_coding	OTTHUMT00000365657.1	G	NM_139056		5239271	+1	no_errors	ENST00000274181	ensembl	human	known	70_37	missense	SNP	1.000	A
ACSL6	23305	genome.wustl.edu	37	5	131326618	131326618	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:131326618G>C	ENST00000379240.1	-	3	391	c.238C>G	c.(238-240)Cag>Gag	p.Q80E	ACSL6_ENST00000379244.1_Missense_Mutation_p.Q80E|ACSL6_ENST00000296869.4_Missense_Mutation_p.Q105E|ACSL6_ENST00000379255.1_Missense_Mutation_p.Q45E|ACSL6_ENST00000357096.1_Missense_Mutation_p.Q45E|ACSL6_ENST00000379249.3_Missense_Mutation_p.Q80E|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000431707.1_Missense_Mutation_p.Q45E|ACSL6_ENST00000379246.1_Missense_Mutation_p.Q91E|ACSL6_ENST00000477640.1_5'Flank|ACSL6_ENST00000379272.2_Missense_Mutation_p.Q80E|ACSL6_ENST00000379264.2_Missense_Mutation_p.Q105E|ACSL6_ENST00000543479.1_Missense_Mutation_p.Q80E			Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	80					acyl-CoA metabolic process (GO:0006637)|cellular lipid metabolic process (GO:0044255)|cellular response to insulin stimulus (GO:0032869)|fatty acid transport (GO:0015908)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|phospholipid biosynthetic process (GO:0008654)|positive regulation of neuron projection development (GO:0010976)|positive regulation of plasma membrane long-chain fatty acid transport (GO:0010747)|positive regulation of triglyceride biosynthetic process (GO:0010867)|response to gravity (GO:0009629)|response to hypoxia (GO:0001666)|response to nutrient (GO:0007584)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein homodimerization activity (GO:0042803)			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTAAGTAGCTGAGGGCCAGAC	0.612																																																	0													111.0	94.0	100.0					5																	131326618		2203	4300	6503	SO:0001583	missense	23305			AB020644	CCDS34228.1, CCDS34229.1, CCDS56381.1, CCDS56382.1, CCDS56383.1	5q31	2008-02-05	2004-02-19	2004-02-20	ENSG00000164398	ENSG00000164398		"""Acyl-CoA synthetase family"""	16496	protein-coding gene	gene with protein product		604443	"""fatty-acid-Coenzyme A ligase, long-chain 6"""	FACL6		10502316, 10548543	Standard	NM_015256		Approved	KIAA0837, ACS2, LACS5, LACS2	uc003kvy.2	Q9UKU0	OTTHUMG00000150692	ENST00000379240.1:c.238C>G	5.37:g.131326618G>C	ENSP00000368542:p.Gln80Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KPG3|O94924|O95829|Q108M9|Q108N0|Q4G191|Q86TN7	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.Q105E	ENST00000379240.1	37	c.313		5	.	.	.	.	.	.	.	.	.	.	g	1.130	-0.652732	0.03480	.	.	ENSG00000164398	ENST00000379249;ENST00000379264;ENST00000379272;ENST00000357096;ENST00000379255;ENST00000296869;ENST00000379246;ENST00000379244;ENST00000379240;ENST00000431707;ENST00000543479;ENST00000434099;ENST00000430403;ENST00000419502;ENST00000416557;ENST00000414078;ENST00000441995	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49139	2.04;2.78;2.62;3.45;3.45;2.77;2.78;2.78;2.78;2.63;2.78;0.79;2.9;2.9;2.9;2.9	5.7	2.57	0.30868	.	0.373934	0.30528	N	0.009435	T	0.15565	0.0375	N	0.01096	-1.015	0.80722	D	1	B;B;B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0;0.0;0.0	B;B;B;B;B;B;B	0.04013	0.001;0.0;0.001;0.001;0.0;0.001;0.001	T	0.12528	-1.0544	10	0.07482	T	0.82	.	10.4317	0.44411	0.0:0.1989:0.5841:0.2169	.	80;80;70;80;45;105;105	Q9UKU0-3;Q9UKU0-6;B4DFW3;Q9UKU0;Q9UKU0-7;Q9UKU0-1;Q9UKU0-8	.;.;.;ACSL6_HUMAN;.;.;.	E	80;105;80;45;45;105;91;80;80;45;80;45;80;80;80;80;45	ENSP00000368551:Q80E;ENSP00000368566:Q105E;ENSP00000368574:Q80E;ENSP00000349608:Q45E;ENSP00000368557:Q45E;ENSP00000296869:Q105E;ENSP00000368548:Q91E;ENSP00000368546:Q80E;ENSP00000368542:Q80E;ENSP00000413329:Q45E;ENSP00000442124:Q80E;ENSP00000397507:Q45E;ENSP00000398423:Q80E;ENSP00000388424:Q80E;ENSP00000398381:Q80E;ENSP00000394810:Q80E	ENSP00000296869:Q105E	Q	-	1	0	ACSL6	131354517	0.996000	0.38824	0.491000	0.27477	0.608000	0.37181	1.321000	0.33678	0.732000	0.32470	0.486000	0.48141	CAG	ACSL6	-	NULL		0.612	ACSL6-004	NOVEL	basic|appris_candidate_longest|exp_conf	protein_coding	ACSL6	HGNC	protein_coding	OTTHUMT00000132622.1	G	NM_015256		131326618	-1	no_errors	ENST00000296869	ensembl	human	known	70_37	missense	SNP	0.998	C
ADAMTSL1	92949	genome.wustl.edu	37	9	18639298	18639298	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:18639298C>G	ENST00000380548.4	+	7	1062	c.723C>G	c.(721-723)ctC>ctG	p.L241L	ADAMTSL1_ENST00000276935.6_Silent_p.L241L|ADAMTSL1_ENST00000380566.4_Silent_p.L241L|ADAMTSL1_ENST00000327883.7_Silent_p.L241L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	241						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AAAACAGTCTCAGCTCCACAG	0.448																																																	0													76.0	73.0	74.0					9																	18639298		2203	4299	6502	SO:0001819	synonymous_variant	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.723C>G	9.37:g.18639298C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	pfam_Thrombospondin_1_rpt,pfam_ADAM_spacer1,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,prints_Peptidase_M12B_ADAM-TS	p.L241	ENST00000380548.4	37	c.723	CCDS47954.1	9																																																																																			ADAMTSL1	-	pfam_ADAM_spacer1		0.448	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18639298	+1	no_errors	ENST00000327883	ensembl	human	known	70_37	silent	SNP	1.000	G
ADAMTSL3	57188	genome.wustl.edu	37	15	84581944	84581944	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:84581944G>A	ENST00000286744.5	+	16	2025	c.1801G>A	c.(1801-1803)Gag>Aag	p.E601K	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.E601K	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	601	TSP type-1 4. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E601Q(1)		NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CACGCAGACTGAGACTGAGCT	0.627																																																	1	Substitution - Missense(1)	prostate(1)											86.0	73.0	77.0					15																	84581944		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.1801G>A	15.37:g.84581944G>A	ENSP00000286744:p.Glu601Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.E601K	ENST00000286744.5	37	c.1801	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	13.19	2.163482	0.38217	.	.	ENSG00000156218	ENST00000286744	T	0.52057	0.68	4.9	4.9	0.64082	.	0.543036	0.17856	N	0.159694	T	0.38772	0.1053	L	0.33710	1.025	0.43994	D	0.996693	P;P	0.43938	0.454;0.822	B;B	0.42245	0.381;0.371	T	0.20672	-1.0268	10	0.06365	T	0.9	.	18.1118	0.89538	0.0:0.0:1.0:0.0	.	601;601	P82987-2;P82987	.;ATL3_HUMAN	K	601	ENSP00000286744:E601K	ENSP00000286744:E601K	E	+	1	0	ADAMTSL3	82372948	1.000000	0.71417	0.047000	0.18901	0.848000	0.48234	9.036000	0.93758	2.246000	0.74042	0.563000	0.77884	GAG	ADAMTSL3	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.627	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	G	NM_207517		84581944	+1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	0.552	A
ADAMTSL3	57188	genome.wustl.edu	37	15	84651086	84651086	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:84651086G>C	ENST00000286744.5	+	21	2930	c.2706G>C	c.(2704-2706)caG>caC	p.Q902H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.Q902H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	902	Ig-like C2-type 1.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCAGTGTCCAGAGAGTCTACA	0.423																																																	0													125.0	112.0	116.0					15																	84651086		2203	4300	6503	SO:0001583	missense	57188			AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.2706G>C	15.37:g.84651086G>C	ENSP00000286744:p.Gln902His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.Q902H	ENST00000286744.5	37	c.2706	CCDS10326.1	15	.	.	.	.	.	.	.	.	.	.	G	11.00	1.509987	0.27036	.	.	ENSG00000156218	ENST00000286744	T	0.63913	-0.07	5.05	0.398	0.16319	Immunoglobulin-like (1);	0.182487	0.27012	N	0.021380	T	0.28466	0.0704	N	0.01482	-0.84	0.26567	N	0.973631	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.24261	-1.0165	10	0.38643	T	0.18	.	7.4121	0.27023	0.1896:0.5079:0.3025:0.0	.	902;902	P82987-2;P82987	.;ATL3_HUMAN	H	902	ENSP00000286744:Q902H	ENSP00000286744:Q902H	Q	+	3	2	ADAMTSL3	82442090	0.971000	0.33674	0.994000	0.49952	0.983000	0.72400	0.259000	0.18405	0.506000	0.28125	0.563000	0.77884	CAG	ADAMTSL3	-	pfscan_Ig-like		0.423	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL3	HGNC	protein_coding	OTTHUMT00000304007.2	G	NM_207517		84651086	+1	no_errors	ENST00000286744	ensembl	human	known	70_37	missense	SNP	0.998	C
ADAMTSL4	54507	genome.wustl.edu	37	1	150524368	150524368	+	Intron	DEL	A	A	-	rs199813152		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:150524368delA	ENST00000271643.4	+	3	152				MIR4257_ENST00000581735.1_RNA|RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369039.5_Intron|ADAMTSL4_ENST00000369038.2_5'Flank|ADAMTSL4_ENST00000483335.1_3'UTR|ADAMTSL4_ENST00000369041.5_Intron	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4						apoptotic process (GO:0006915)|extracellular matrix organization (GO:0030198)|positive regulation of apoptotic process (GO:0043065)	interstitial matrix (GO:0005614)	metalloendopeptidase activity (GO:0004222)|protease binding (GO:0002020)			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			tctccatctcaaaaaaaaaaa	0.527																																																	0																																										SO:0001627	intron_variant	54507			BC027478	CCDS955.1, CCDS30852.1, CCDS72908.1	1q21.2	2008-02-05	2005-12-01	2005-12-01	ENSG00000143382	ENSG00000143382			19706	protein-coding gene	gene with protein product		610113	"""thrombospondin repeat containing 1"""	TSRC1		12706885	Standard	NM_019032		Approved	DKFZP434K1772	uc001eux.3	Q6UY14	OTTHUMG00000034863	ENST00000271643.4:c.-84-313A>-	1.37:g.150524368delA		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT0|F8WAD0|Q5T5F7|Q6IPM6|Q8N643|Q9HBS6	RNA	DEL	-	NULL	ENST00000271643.4	37	NULL	CCDS955.1	1																																																																																			ADAMTSL4	-	-		0.527	ADAMTSL4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTSL4	HGNC	protein_coding		A	NM_019032		150524368	+1	no_errors	ENST00000483335	ensembl	human	known	70_37	rna	DEL	0.000	-
ADARB2	105	genome.wustl.edu	37	10	1568961	1568961	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:1568961G>A	ENST00000381312.1	-	2	426				ADARB2-AS1_ENST00000381301.3_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)						mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		ggactgagCCGGATGACATGA	0.592																																																	0													28.0	29.0	29.0					10																	1568961		2127	4253	6380	SO:0001627	intron_variant	642394			AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.101-147606C>T	10.37:g.1568961G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPJ5|Q5VUT6|Q5VW42	RNA	SNP	-	NULL	ENST00000381312.1	37	NULL	CCDS7058.1	10																																																																																			ADARB2-AS1	-	-		0.592	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADARB2-AS1	HGNC	protein_coding	OTTHUMT00000046426.1	G	NM_018702		1568961	+1	no_errors	ENST00000381301	ensembl	human	known	70_37	rna	SNP	0.001	A
ADCY8	114	genome.wustl.edu	37	8	132002735	132002735	+	Silent	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:132002735G>T	ENST00000286355.5	-	2	3106	c.1014C>A	c.(1012-1014)atC>atA	p.I338I	ADCY8_ENST00000377928.3_Silent_p.I338I	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	338					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			ACAGGTAACTGATGAAGATTC	0.512										HNSCC(32;0.087)																																							0													130.0	137.0	135.0					8																	132002735		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1014C>A	8.37:g.132002735G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.I338	ENST00000286355.5	37	c.1014	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			132002735	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	T
ADCY8	114	genome.wustl.edu	37	8	132002738	132002738	+	Silent	SNP	G	G	A	rs574355981		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:132002738G>A	ENST00000286355.5	-	2	3103	c.1011C>T	c.(1009-1011)ttC>ttT	p.F337F	ADCY8_ENST00000377928.3_Silent_p.F337F	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	337					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|learning or memory (GO:0007611)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GGTAACTGATGAAGATTCCAG	0.512										HNSCC(32;0.087)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		17917	0.0		0.0	False		,,,				2504	0.0																0													130.0	137.0	135.0					8																	132002738		2203	4300	6503	SO:0001819	synonymous_variant	114			Z35309	CCDS6363.1	8q24	2013-02-04			ENSG00000155897	ENSG00000155897	4.6.1.1	"""Adenylate cyclases"""	239	protein-coding gene	gene with protein product		103070		ADCY3		8076676	Standard	NM_001115		Approved	HBAC1, AC8	uc003ytd.4	P40145	OTTHUMG00000164756	ENST00000286355.5:c.1011C>T	8.37:g.132002738G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_A/G_cyclase,pfam_Adenylate_cyclase-like,superfamily_A/G_cyclase,smart_A/G_cyclase,pfscan_A/G_cyclase	p.F337	ENST00000286355.5	37	c.1011	CCDS6363.1	8																																																																																			ADCY8	-	NULL		0.512	ADCY8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADCY8	HGNC	protein_coding	OTTHUMT00000380080.1	G			132002738	-1	no_errors	ENST00000286355	ensembl	human	known	70_37	silent	SNP	1.000	A
ADD1	118	genome.wustl.edu	37	4	2877727	2877727	+	Missense_Mutation	SNP	G	G	C	rs374139420		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:2877727G>C	ENST00000398129.1	+	1	105	c.85G>C	c.(85-87)Gat>Cat	p.D29H	ADD1_ENST00000503455.2_Missense_Mutation_p.D29H|ADD1_ENST00000446856.1_Missense_Mutation_p.D29H|ADD1_ENST00000264758.7_Missense_Mutation_p.D29H|ADD1_ENST00000513328.2_Missense_Mutation_p.D29H|ADD1_ENST00000398125.1_Missense_Mutation_p.D29H|ADD1_ENST00000355842.3_Missense_Mutation_p.D29H|ADD1_ENST00000398123.2_Missense_Mutation_p.D29H			P35611	ADDA_HUMAN	adducin 1 (alpha)	29					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CGACCGAGTAGATGAGAACAA	0.517																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													141.0	138.0	139.0					4																	2877727		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.85G>C	4.37:g.2877727G>C	ENSP00000381197:p.Asp29His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.D29H	ENST00000398129.1	37	c.85	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538629	0.85917	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000511797;ENST00000513328;ENST00000508277;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48;1.48	4.99	4.99	0.66335	.	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	M	0.73962	2.25	0.80722	D	1	D;D;D;D;D;D;D	0.89917	0.983;0.983;1.0;0.994;0.998;1.0;0.999	D;D;D;D;D;D;D	0.91635	0.942;0.914;0.999;0.96;0.987;0.999;0.957	T	0.61950	-0.6957	10	0.72032	D	0.01	-14.2703	18.4459	0.90683	0.0:0.0:1.0:0.0	.	29;29;29;29;29;29;29	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	H	29	ENSP00000264758:D29H;ENSP00000399828:D29H;ENSP00000381193:D29H;ENSP00000421918:D29H;ENSP00000421907:D29H;ENSP00000426700:D29H;ENSP00000423024:D29H;ENSP00000348100:D29H;ENSP00000381191:D29H;ENSP00000381197:D29H	ENSP00000264758:D29H	D	+	1	0	ADD1	2847525	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.356000	0.97091	2.597000	0.87782	0.591000	0.81541	GAT	ADD1	-	NULL		0.517	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	G	NM_014189		2877727	+1	no_errors	ENST00000264758	ensembl	human	known	70_37	missense	SNP	1.000	C
ADD1	118	genome.wustl.edu	37	4	2886385	2886385	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:2886385C>G	ENST00000398129.1	+	3	522	c.502C>G	c.(502-504)Cat>Gat	p.H168D	ADD1_ENST00000503455.2_Missense_Mutation_p.H168D|ADD1_ENST00000446856.1_Missense_Mutation_p.H168D|ADD1_ENST00000264758.7_Missense_Mutation_p.H168D|ADD1_ENST00000513328.2_Missense_Mutation_p.H168D|ADD1_ENST00000398125.1_Missense_Mutation_p.H168D|ADD1_ENST00000355842.3_Missense_Mutation_p.H168D|ADD1_ENST00000398123.2_Missense_Mutation_p.H168D			P35611	ADDA_HUMAN	adducin 1 (alpha)	168					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cell morphogenesis (GO:0000902)|cell volume homeostasis (GO:0006884)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|endoplasmic reticulum unfolded protein response (GO:0030968)|erythrocyte differentiation (GO:0030218)|hemoglobin metabolic process (GO:0020027)|homeostasis of number of cells within a tissue (GO:0048873)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein binding (GO:0032092)	cytosol (GO:0005829)|dendritic spine (GO:0043197)|F-actin capping protein complex (GO:0008290)|focal adhesion (GO:0005925)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|spectrin binding (GO:0030507)|structural molecule activity (GO:0005198)|transcription factor binding (GO:0008134)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TATCTACAATCATATCACAGT	0.398																																					Esophageal Squamous(71;505 1201 20414 34538 37449)												0													175.0	175.0	175.0					4																	2886385		2203	4300	6503	SO:0001583	missense	118			L07261	CCDS3363.1, CCDS3364.1, CCDS43205.1, CCDS75094.1	4p16.3	2009-04-22			ENSG00000087274	ENSG00000087274			243	protein-coding gene	gene with protein product		102680				1840603	Standard	NM_001119		Approved		uc003gfq.3	P35611	OTTHUMG00000122080	ENST00000398129.1:c.502C>G	4.37:g.2886385C>G	ENSP00000381197:p.His168Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3N8|A2A3P0|B4DI79|D3DVR3|D3DVR4|D3DVR5|Q13734|Q14729|Q16156|Q86XM2|Q9UJB6	Missense_Mutation	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.H168D	ENST00000398129.1	37	c.502	CCDS43205.1	4	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949625	0.92660	.	.	ENSG00000087274	ENST00000264758;ENST00000446856;ENST00000398125;ENST00000398124;ENST00000513328;ENST00000503455;ENST00000355842;ENST00000398123;ENST00000398129	T;T;T;T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75;1.75;1.75;1.75	5.33	5.33	0.75918	Class II aldolase/adducin, N-terminal (3);	0.000000	0.85682	D	0.000000	T	0.69913	0.3164	H	0.98542	4.26	0.80722	D	1	D;D;D;D;D;D;D	0.67145	0.966;0.966;0.996;0.966;0.995;0.996;0.992	P;P;D;P;P;D;D	0.85130	0.845;0.845;0.997;0.845;0.897;0.99;0.937	T	0.82444	-0.0454	10	0.87932	D	0	-28.3184	19.215	0.93772	0.0:1.0:0.0:0.0	.	168;168;168;168;168;168;168	E7ENY0;B4DI79;Q86XM2;P35611;P35611-3;P35611-2;A2A3N8	.;.;.;ADDA_HUMAN;.;.;.	D	168	ENSP00000264758:H168D;ENSP00000399828:H168D;ENSP00000381193:H168D;ENSP00000421907:H168D;ENSP00000423024:H168D;ENSP00000348100:H168D;ENSP00000381191:H168D;ENSP00000381197:H168D	ENSP00000264758:H168D	H	+	1	0	ADD1	2856183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.736000	0.68597	2.777000	0.95525	0.655000	0.94253	CAT	ADD1	-	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N		0.398	ADD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADD1	HGNC	protein_coding	OTTHUMT00000242840.1	C	NM_014189		2886385	+1	no_errors	ENST00000264758	ensembl	human	known	70_37	missense	SNP	1.000	G
ADNP	23394	genome.wustl.edu	37	20	49509639	49509639	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:49509639C>A	ENST00000396029.3	-	5	2179	c.1612G>T	c.(1612-1614)Gaa>Taa	p.E538*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.E538*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.E538*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.E538*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	538					negative regulation of neuron apoptotic process (GO:0043524)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CCCATCTCTTCATCAATGTGA	0.408																																																	0													140.0	131.0	134.0					20																	49509639		2203	4300	6503	SO:0001587	stop_gained	23394			AF250860	CCDS13433.1	20q13.13	2011-06-20	2007-07-17		ENSG00000101126	ENSG00000101126		"""Homeoboxes / ZF class"""	15766	protein-coding gene	gene with protein product	"""ADNP homeobox 1"""	611386	"""activity-dependent neuroprotector"""			9872452, 11013255	Standard	NM_015339		Approved	KIAA0784, ADNP1	uc002xvu.1	Q9H2P0	OTTHUMG00000032737	ENST00000396029.3:c.1612G>T	20.37:g.49509639C>A	ENSP00000379346:p.Glu538*	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5Y2|O94881|Q5BKU2|Q9UG34	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E538*	ENST00000396029.3	37	c.1612	CCDS13433.1	20	.	.	.	.	.	.	.	.	.	.	C	43	9.830708	0.99275	.	.	ENSG00000101126	ENST00000371602;ENST00000349014;ENST00000396029;ENST00000396032	.	.	.	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.14252	T	0.57	-15.8453	19.9474	0.97186	0.0:1.0:0.0:0.0	.	.	.	.	X	538	.	ENSP00000342905:E538X	E	-	1	0	ADNP	48943046	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.473000	0.81007	2.710000	0.92621	0.650000	0.86243	GAA	ADNP	-	pfscan_Znf_C2H2		0.408	ADNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADNP	HGNC	protein_coding	OTTHUMT00000079705.2	C	NM_181442		49509639	-1	no_errors	ENST00000349014	ensembl	human	known	70_37	nonsense	SNP	1.000	A
AFF2	2334	genome.wustl.edu	37	X	148037884	148037884	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:148037884C>A	ENST00000370460.2	+	11	2788	c.2309C>A	c.(2308-2310)tCc>tAc	p.S770Y	AFF2_ENST00000370457.5_Missense_Mutation_p.S737Y|AFF2_ENST00000286437.5_Missense_Mutation_p.S411Y|AFF2_ENST00000342251.3_Missense_Mutation_p.S737Y	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	770					brain development (GO:0007420)|learning or memory (GO:0007611)|mRNA processing (GO:0006397)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)	G-quadruplex RNA binding (GO:0002151)	p.S770F(2)|p.S411F(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACAACTTATCCATCAGTAAT	0.453																																																	3	Substitution - Missense(3)	kidney(3)											105.0	93.0	97.0					X																	148037884		2203	4300	6503	SO:0001583	missense	2334			U48436	CCDS14684.1, CCDS55521.1, CCDS76040.1	Xq28	2008-02-05	2005-06-27	2005-06-27	ENSG00000155966	ENSG00000155966			3776	protein-coding gene	gene with protein product		300806	"""fragile X mental retardation 2"""	FMR2			Standard	NM_002025		Approved	FRAXE	uc004fcp.3	P51816	OTTHUMG00000022613	ENST00000370460.2:c.2309C>A	X.37:g.148037884C>A	ENSP00000359489:p.Ser770Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RTY4|B4DXD5|B7WNQ1|B7ZLD6|B7ZLD9|O43786|O60215|P78407|Q13521|Q14323|Q7Z2F7|Q7Z400|Q9UNA5	Missense_Mutation	SNP	pfam_TF_AF4/FMR2	p.S770Y	ENST00000370460.2	37	c.2309	CCDS14684.1	X	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395967	0.25205	.	.	ENSG00000155966	ENST00000370460;ENST00000370457;ENST00000342251;ENST00000286437	T;T;T;T	0.64803	-0.12;-0.12;-0.12;-0.12	5.63	4.74	0.60224	.	1.500750	0.03598	N	0.233000	T	0.72260	0.3438	L	0.55990	1.75	0.09310	N	1	P;P;P;P;P;P	0.37612	0.602;0.547;0.547;0.547;0.547;0.602	P;B;B;B;B;P	0.48524	0.58;0.444;0.444;0.444;0.444;0.58	T	0.57911	-0.7729	10	0.72032	D	0.01	.	11.1182	0.48273	0.1436:0.7209:0.1355:0.0	.	411;735;737;731;760;770	B4DXD5;P51816-6;P51816-3;P51816-2;P51816-5;P51816	.;.;.;.;.;AFF2_HUMAN	Y	770;737;737;411	ENSP00000359489:S770Y;ENSP00000359486:S737Y;ENSP00000345459:S737Y;ENSP00000286437:S411Y	ENSP00000286437:S411Y	S	+	2	0	AFF2	147845584	0.065000	0.20965	0.012000	0.15200	0.324000	0.28378	2.798000	0.47884	1.087000	0.41251	0.600000	0.82982	TCC	AFF2	-	pfam_TF_AF4/FMR2		0.453	AFF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AFF2	HGNC	protein_coding	OTTHUMT00000058673.2	C	NM_002025		148037884	+1	no_errors	ENST00000370460	ensembl	human	known	70_37	missense	SNP	0.006	A
AGAP7P	653268	genome.wustl.edu	37	10	51483213	51483213	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:51483213C>G	ENST00000374095.5	-	2	378	c.253G>C	c.(253-255)Gag>Cag	p.E85Q		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN		85					regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						GTGCTTGCCTCTGGATTGGCA	0.363																																																	0													9.0	9.0	9.0					10																	51483213		1602	3487	5089	SO:0001583	missense	653268																														ENST00000374095.5:c.253G>C	10.37:g.51483213C>G	ENSP00000363208:p.Glu85Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGH4	Missense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.E85Q	ENST00000374095.5	37	c.253	CCDS41524.1	10	.	.	.	.	.	.	.	.	.	.	.	10.46	1.356881	0.24598	.	.	ENSG00000204169	ENST00000374095	D	0.88818	-2.43	0.589	-0.982	0.10266	.	0.189187	0.43747	D	0.000526	T	0.77018	0.4069	L	0.27053	0.805	0.09310	N	0.999994	P	0.42993	0.797	B	0.40825	0.341	T	0.70498	-0.4855	10	0.87932	D	0	.	2.1648	0.03834	0.0:0.2951:0.3277:0.3772	.	85	Q5VUJ5	AGAP7_HUMAN	Q	85	ENSP00000363208:E85Q	ENSP00000363208:E85Q	E	-	1	0	AGAP7	51153219	0.657000	0.27393	0.173000	0.22940	0.046000	0.14306	0.031000	0.13710	-0.352000	0.08237	0.175000	0.17021	GAG	AGAP7	-	NULL		0.363	AGAP7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	AGAP7	HGNC	protein_coding	OTTHUMT00000048033.1	C			51483213	-1	no_errors	ENST00000374095	ensembl	human	known	70_37	missense	SNP	0.991	G
AGAP6	414189	genome.wustl.edu	37	10	51769332	51769332	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:51769332G>T	ENST00000374056.4	+	7	1776	c.1378G>T	c.(1378-1380)Gag>Tag	p.E460*	AGAP6_ENST00000412531.3_Nonsense_Mutation_p.E483*			Q5VW22	AGAP6_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	460	Arf-GAP. {ECO:0000255|PROSITE- ProRule:PRU00288}.				regulation of ARF GTPase activity (GO:0032312)		ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGTGGACTGTGAGACCCAGAA	0.562																																																	0																																										SO:0001587	stop_gained	414189				CCDS44397.1	10q11.23	2013-01-10	2008-09-22	2008-09-22	ENSG00000204149	ENSG00000204149		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	23466	protein-coding gene	gene with protein product			"""centaurin, gamma-like family, member 3"""	CTGLF3			Standard	NM_001077665		Approved	bA324H6.1	uc001jix.4	Q5VW22	OTTHUMG00000018220	ENST00000374056.4:c.1378G>T	10.37:g.51769332G>T	ENSP00000363168:p.Glu460*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP	p.E483*	ENST00000374056.4	37	c.1447		10	.	.	.	.	.	.	.	.	.	.	.	37	6.447212	0.97572	.	.	ENSG00000204149	ENST00000374056;ENST00000412531	.	.	.	0.0465	0.0465	0.14256	.	0.472434	0.22644	N	0.057405	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	.	5.9248	0.19104	7.0E-4:0.0:0.9993:0.0	.	.	.	.	X	483;460	.	ENSP00000363168:E483X	E	+	1	0	AGAP6	51439338	1.000000	0.71417	0.355000	0.25773	0.358000	0.29455	5.870000	0.69620	0.132000	0.18615	0.134000	0.15878	GAG	AGAP6	-	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP		0.562	AGAP6-201	KNOWN	basic|appris_candidate	protein_coding	AGAP6	HGNC	protein_coding		G	NM_001077665		51769332	+1	no_errors	ENST00000374056	ensembl	human	known	70_37	nonsense	SNP	1.000	T
AGBL5	60509	genome.wustl.edu	37	2	27293078	27293078	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27293078G>C	ENST00000360131.4	+	15	2767	c.2608G>C	c.(2608-2610)Gag>Cag	p.E870Q		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	870					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCAACCTGAGGTTTGTTT	0.532																																																	0													138.0	129.0	132.0					2																	27293078		1855	4097	5952	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.2608G>C	2.37:g.27293078G>C	ENSP00000353249:p.Glu870Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.E870Q	ENST00000360131.4	37	c.2608	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	14.44	2.534780	0.45073	.	.	ENSG00000084693	ENST00000360131	T	0.16897	2.31	5.21	5.21	0.72293	.	0.368768	0.28453	N	0.015285	T	0.13415	0.0325	N	0.19112	0.55	0.30792	N	0.740772	B	0.30193	0.272	B	0.31290	0.127	T	0.07065	-1.0792	10	0.66056	D	0.02	0.0432	14.1194	0.65177	0.0:0.0:1.0:0.0	.	870	Q8NDL9	CBPC5_HUMAN	Q	870	ENSP00000353249:E870Q	ENSP00000353249:E870Q	E	+	1	0	AGBL5	27146582	1.000000	0.71417	0.986000	0.45419	0.969000	0.65631	4.206000	0.58473	2.716000	0.92895	0.561000	0.74099	GAG	AGBL5	-	NULL		0.532	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27293078	+1	no_errors	ENST00000360131	ensembl	human	known	70_37	missense	SNP	0.994	C
AGL	178	genome.wustl.edu	37	1	100347192	100347192	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:100347192C>T	ENST00000294724.4	+	17	2731	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	AGL_ENST00000370161.2_Silent_p.F735F|AGL_ENST00000361302.3_Silent_p.F735F|AGL_ENST00000361915.3_Silent_p.F751F|AGL_ENST00000370163.3_Silent_p.F751F|AGL_ENST00000361522.4_Silent_p.F734F|AGL_ENST00000370165.3_Silent_p.F751F	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	751					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|response to glucocorticoid (GO:0051384)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|inclusion body (GO:0016234)|isoamylase complex (GO:0043033)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)	4-alpha-glucanotransferase activity (GO:0004134)|amylo-alpha-1,6-glucosidase activity (GO:0004135)|glycogen debranching enzyme activity (GO:0004133)|polysaccharide binding (GO:0030247)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		GAACTGCTTTCAGGAATCCCA	0.388																																																	0													147.0	140.0	142.0					1																	100347192		2203	4300	6503	SO:0001819	synonymous_variant	178			BC078663	CCDS759.1, CCDS760.1, CCDS761.1	1p21	2010-04-27	2010-04-27		ENSG00000162688	ENSG00000162688	2.4.1.25, 3.2.1.33		321	protein-coding gene	gene with protein product	"""glycogen debranching enzyme"", ""glycogen storage disease type III"""	610860	"""amylo-1, 6-glucosidase, 4-alpha-glucanotransferase"""			1505983	Standard	NM_000028		Approved		uc001dsi.1	P35573	OTTHUMG00000010803	ENST00000294724.4:c.2253C>T	1.37:g.100347192C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCX7|A6NEK2|D3DT51|P78354|P78544|Q59H92|Q6AZ90|Q9UF08	Silent	SNP	pfam_GDE_C,superfamily_6-hairpin_glycosidase-like,superfamily_Glycoside_hydrolase_SF,tigrfam_Glycogen_debranch_met	p.F751	ENST00000294724.4	37	c.2253	CCDS759.1	1																																																																																			AGL	-	tigrfam_Glycogen_debranch_met		0.388	AGL-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AGL	HGNC	protein_coding	OTTHUMT00000029778.1	C	NM_000028		100347192	+1	no_errors	ENST00000294724	ensembl	human	known	70_37	silent	SNP	1.000	T
AHCTF1	25909	genome.wustl.edu	37	1	247065857	247065857	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:247065857G>A	ENST00000391829.2	-	8	1210	c.1087C>T	c.(1087-1089)Cat>Tat	p.H363Y	AHCTF1_ENST00000366508.1_Missense_Mutation_p.H398Y|AHCTF1_ENST00000326225.3_Missense_Mutation_p.H372Y			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	363	Necessary for cytoplasmic localization. {ECO:0000250}.|Seven-bladed beta propeller repeats. {ECO:0000250}.				cytokinesis (GO:0000910)|mitotic cell cycle (GO:0000278)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|kinetochore (GO:0000776)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTGTCACCATGAGATCGAAAT	0.413																																					Colon(145;197 1800 4745 15099 26333)												0													150.0	147.0	148.0					1																	247065857		2203	4300	6503	SO:0001583	missense	25909				CCDS1629.1, CCDS1629.2	1q44	2008-09-09			ENSG00000153207	ENSG00000153207			24618	protein-coding gene	gene with protein product	"""ELYS transcription factor like protein TMBS62"""	610853				11952839	Standard	NM_015446		Approved	ELYS	uc001ibv.2	Q8WYP5	OTTHUMG00000040706	ENST00000391829.2:c.1087C>T	1.37:g.247065857G>A	ENSP00000375705:p.His363Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGM0|A8MSG9|A8MZ86|Q7Z4E3|Q8IZA4|Q96EH9|Q9Y4Q6	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.H372Y	ENST00000391829.2	37	c.1114		1	.	.	.	.	.	.	.	.	.	.	G	26.1	4.704311	0.88924	.	.	ENSG00000153207	ENST00000366508;ENST00000326225;ENST00000391829	T;T;T	0.22336	1.96;1.96;1.96	4.96	4.96	0.65561	.	0.000000	0.85682	D	0.000000	T	0.36441	0.0967	L	0.32530	0.975	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.997	T	0.03945	-1.0990	10	0.30078	T	0.28	-18.8996	18.5704	0.91133	0.0:0.0:1.0:0.0	.	398;363	Q8WYP5-2;Q8WYP5	.;ELYS_HUMAN	Y	398;372;363	ENSP00000355464:H398Y;ENSP00000355465:H372Y;ENSP00000375705:H363Y	ENSP00000355465:H372Y	H	-	1	0	AHCTF1	245132480	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	9.173000	0.94815	2.471000	0.83476	0.563000	0.77884	CAT	AHCTF1	-	NULL		0.413	AHCTF1-201	KNOWN	basic|appris_candidate	protein_coding	AHCTF1	HGNC	protein_coding		G	NM_015446		247065857	-1	no_errors	ENST00000326225	ensembl	human	known	70_37	missense	SNP	1.000	A
AHNAK	79026	genome.wustl.edu	37	11	62296617	62296617	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62296617C>G	ENST00000378024.4	-	5	5546	c.5272G>C	c.(5272-5274)Gag>Cag	p.E1758Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1758					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCTGGTCCCTCAATATCCAAA	0.458																																																	0													114.0	127.0	123.0					11																	62296617		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.5272G>C	11.37:g.62296617C>G	ENSP00000367263:p.Glu1758Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E1758Q	ENST00000378024.4	37	c.5272	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	C	9.157	1.017806	0.19355	.	.	ENSG00000124942	ENST00000378024	T	0.01279	5.06	4.1	4.1	0.47936	.	.	.	.	.	T	0.08179	0.0204	M	0.78285	2.405	0.30852	N	0.734491	D	0.67145	0.996	D	0.75484	0.986	T	0.07966	-1.0745	9	0.26408	T	0.33	.	16.2881	0.82732	0.0:1.0:0.0:0.0	.	1758	Q09666	AHNK_HUMAN	Q	1758	ENSP00000367263:E1758Q	ENSP00000367263:E1758Q	E	-	1	0	AHNAK	62053193	0.927000	0.31430	0.062000	0.19696	0.002000	0.02628	1.898000	0.39809	1.975000	0.57531	0.305000	0.20034	GAG	AHNAK	-	NULL		0.458	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62296617	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.981	G
AHNAK	79026	genome.wustl.edu	37	11	62300022	62300022	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62300022C>G	ENST00000378024.4	-	5	2141	c.1867G>C	c.(1867-1869)Gaa>Caa	p.E623Q	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	623					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTTCCATTCTGGGCCATGC	0.517																																																	0													103.0	92.0	96.0					11																	62300022		2202	4299	6501	SO:0001583	missense	79026			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.1867G>C	11.37:g.62300022C>G	ENSP00000367263:p.Glu623Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A586	Missense_Mutation	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.E623Q	ENST00000378024.4	37	c.1867	CCDS31584.1	11	.	.	.	.	.	.	.	.	.	.	C	14.13	2.444952	0.43429	.	.	ENSG00000124942	ENST00000378024	T	0.00986	5.47	5.68	3.77	0.43336	.	0.698495	0.12281	N	0.482894	T	0.03263	0.0095	M	0.82323	2.585	0.09310	N	1	D	0.52996	0.957	P	0.52793	0.709	T	0.39563	-0.9608	10	0.45353	T	0.12	-23.3527	6.5897	0.22639	0.1467:0.7054:0.0:0.148	.	623	Q09666	AHNK_HUMAN	Q	623	ENSP00000367263:E623Q	ENSP00000367263:E623Q	E	-	1	0	AHNAK	62056598	0.755000	0.28372	0.061000	0.19648	0.600000	0.36913	1.809000	0.38922	0.725000	0.32318	0.305000	0.20034	GAA	AHNAK	-	NULL		0.517	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1	C	NM_024060		62300022	-1	no_errors	ENST00000378024	ensembl	human	known	70_37	missense	SNP	0.110	G
AHRR	57491	genome.wustl.edu	37	5	434222	434222	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:434222C>T	ENST00000505113.1	+	11	1423	c.1379C>T	c.(1378-1380)tCc>tTc	p.S460F	AHRR_ENST00000506456.1_Missense_Mutation_p.S316F|AHRR_ENST00000512529.1_Missense_Mutation_p.S306F|AHRR_ENST00000316418.5_Missense_Mutation_p.S478F	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	460					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CCGAGCCCGTCCCCCAGTGCC	0.701																																																	0													27.0	34.0	32.0					5																	434222		2164	4259	6423	SO:0001583	missense	57491			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1379C>T	5.37:g.434222C>T	ENSP00000424601:p.Ser460Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.S478F	ENST00000505113.1	37	c.1433	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	C	2.792	-0.251054	0.05867	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456;ENST00000511487	T;T;T;T;T	0.43688	2.29;2.28;1.96;1.96;0.94	4.69	1.7	0.24286	.	1.613130	0.03029	N	0.151850	T	0.22704	0.0548	N	0.24115	0.695	0.09310	N	1	P;P;B	0.41748	0.681;0.761;0.006	B;B;B	0.33121	0.158;0.135;0.005	T	0.16364	-1.0405	10	0.09843	T	0.71	.	3.5103	0.07705	0.1997:0.5868:0.0:0.2134	.	316;460;478	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	F	460;478;306;316;115	ENSP00000424601:S460F;ENSP00000323816:S478F;ENSP00000424880:S306F;ENSP00000426932:S316F;ENSP00000426076:S115F	ENSP00000323816:S478F	S	+	2	0	AHRR	487222	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.180000	0.16860	0.514000	0.28300	0.455000	0.32223	TCC	AHRR	-	NULL		0.701	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	C	NM_020731		434222	+1	no_errors	ENST00000316418	ensembl	human	known	70_37	missense	SNP	0.002	T
AIM1L	55057	genome.wustl.edu	37	1	26663710	26663710	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:26663710G>A	ENST00000308182.5	-	9	1066				AIM1L_ENST00000522993.1_Intron|AIM1L_ENST00000527815.1_Intron			Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like								carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		GCTGTGGCCAGAGGCAGAGGG	0.577																																																	0													73.0	71.0	72.0					1																	26663710		2203	4300	6503	SO:0001627	intron_variant	55057					1p35	2010-07-14			ENSG00000176092	ENSG00000176092			17295	protein-coding gene	gene with protein product	"""beta-gamma crystallin domain containing 2"""						Standard	NM_001039775		Approved	CRYBG2, FLJ38020	uc001bmd.4	Q8N1P7	OTTHUMG00000003490	ENST00000308182.5:c.636+33C>T	1.37:g.26663710G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNG3|Q5T137|Q5T150	RNA	SNP	-	NULL	ENST00000308182.5	37	NULL		1																																																																																			AIM1L	-	-		0.577	AIM1L-201	KNOWN	basic	protein_coding	AIM1L	HGNC	protein_coding		G	NM_001039775.2		26663710	-1	no_errors	ENST00000522923	ensembl	human	known	70_37	rna	SNP	0.001	A
AK7	122481	genome.wustl.edu	37	14	96864457	96864457	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:96864457G>A	ENST00000267584.4	+	2	195	c.151G>A	c.(151-153)Gag>Aag	p.E51K	AK7_ENST00000555570.1_Missense_Mutation_p.E51K	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	51	Poly-Glu.				axoneme assembly (GO:0035082)|brain development (GO:0007420)|epithelial cilium movement (GO:0003351)|inflammatory response to antigenic stimulus (GO:0002437)|nucleoside diphosphate phosphorylation (GO:0006165)|nucleoside triphosphate biosynthetic process (GO:0009142)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	adenylate kinase activity (GO:0004017)|ATP binding (GO:0005524)|cytidylate kinase activity (GO:0004127)|nucleoside diphosphate kinase activity (GO:0004550)			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		AGAAATTACAGAGGAAGAGGA	0.443																																																	0													103.0	103.0	103.0					14																	96864457		2203	4300	6503	SO:0001583	missense	122481			AK057426	CCDS9945.1	14q32.31	2012-08-15			ENSG00000140057	ENSG00000140057		"""Adenylate kinases"""	20091	protein-coding gene	gene with protein product		615364					Standard	NM_152327		Approved	FLJ32864	uc001yfn.3	Q96M32	OTTHUMG00000171421	ENST00000267584.4:c.151G>A	14.37:g.96864457G>A	ENSP00000267584:p.Glu51Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYP6	Missense_Mutation	SNP	pfam_Dpy-30_motif,pfam_Adenylate_kin	p.E51K	ENST00000267584.4	37	c.151	CCDS9945.1	14	.	.	.	.	.	.	.	.	.	.	G	28.8	4.953992	0.92660	.	.	ENSG00000140057	ENST00000267584;ENST00000555570	T	0.58506	0.33	5.35	5.35	0.76521	.	0.257771	0.37393	N	0.002106	T	0.75874	0.3909	M	0.74258	2.255	0.48632	D	0.999684	P;D	0.89917	0.786;1.0	B;D	0.87578	0.22;0.998	T	0.76299	-0.3010	10	0.46703	T	0.11	-22.3889	16.8264	0.85933	0.0:0.0:1.0:0.0	.	51;51	Q96M32;G3V365	KAD7_HUMAN;.	K	51	ENSP00000267584:E51K	ENSP00000267584:E51K	E	+	1	0	AK7	95934210	1.000000	0.71417	0.875000	0.34327	0.965000	0.64279	6.263000	0.72521	2.528000	0.85240	0.491000	0.48974	GAG	AK7	-	NULL		0.443	AK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AK7	HGNC	protein_coding	OTTHUMT00000413340.1	G			96864457	+1	no_errors	ENST00000267584	ensembl	human	known	70_37	missense	SNP	0.963	A
AKAP11	11215	genome.wustl.edu	37	13	42877015	42877015	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:42877015C>A	ENST00000025301.2	+	8	4308	c.4133C>A	c.(4132-4134)tCa>tAa	p.S1378*		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1378					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TCTGTTAAATCAGGATTACAG	0.408																																																	0													76.0	71.0	73.0					13																	42877015		2203	4300	6503	SO:0001587	stop_gained	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.4133C>A	13.37:g.42877015C>A	ENSP00000025301:p.Ser1378*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75124|Q9NUK7	Nonsense_Mutation	SNP	NULL	p.S1378*	ENST00000025301.2	37	c.4133	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	C	44	10.751877	0.99461	.	.	ENSG00000023516	ENST00000025301	.	.	.	6.16	6.16	0.99307	.	0.197613	0.35739	N	0.003004	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	.	.	.	X	1378	.	ENSP00000025301:S1378X	S	+	2	0	AKAP11	41775015	0.999000	0.42202	0.997000	0.53966	0.991000	0.79684	4.534000	0.60622	2.937000	0.99478	0.650000	0.86243	TCA	AKAP11	-	NULL		0.408	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	C	NM_016248		42877015	+1	no_errors	ENST00000025301	ensembl	human	known	70_37	nonsense	SNP	1.000	A
AKAP12	9590	genome.wustl.edu	37	6	151673169	151673169	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:151673169C>T	ENST00000253332.1	+	3	3832	c.3643C>T	c.(3643-3645)Cct>Tct	p.P1215S	AKAP12_ENST00000354675.6_Missense_Mutation_p.P1117S|AKAP12_ENST00000402676.2_Missense_Mutation_p.P1215S|AKAP12_ENST00000359755.5_Missense_Mutation_p.P1110S			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1215					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AGAGGCAGTTCCTGCACAGAA	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)												0													59.0	59.0	59.0					6																	151673169		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.3643C>T	6.37:g.151673169C>T	ENSP00000253332:p.Pro1215Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.P1215S	ENST00000253332.1	37	c.3643	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	11.40	1.626166	0.28978	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.07908	3.15;3.15;3.16;3.16	4.75	0.492	0.16872	.	0.696787	0.11904	N	0.518290	T	0.01592	0.0051	L	0.29908	0.895	0.09310	N	1	B;B;B	0.25235	0.093;0.093;0.121	B;B;B	0.27170	0.077;0.077;0.035	T	0.47420	-0.9119	10	0.36615	T	0.2	.	1.8781	0.03222	0.3384:0.3795:0.119:0.1632	.	1110;1117;1215	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	S	1215;1215;1117;1110	ENSP00000384537:P1215S;ENSP00000253332:P1215S;ENSP00000346702:P1117S;ENSP00000352794:P1110S	ENSP00000253332:P1215S	P	+	1	0	AKAP12	151714862	0.000000	0.05858	0.114000	0.21550	0.352000	0.29268	0.152000	0.16302	0.150000	0.19136	0.455000	0.32223	CCT	AKAP12	-	NULL		0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	C			151673169	+1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.004	T
AKAP4	8852	genome.wustl.edu	37	X	49957942	49957942	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:49957942C>T	ENST00000376056.2	-	5	1545	c.1395G>A	c.(1393-1395)atG>atA	p.M465I	AKAP4_ENST00000376064.3_Missense_Mutation_p.M465I|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.M474I					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCCTCTCTTTCATTTCAGCTT	0.438																																																	0													128.0	120.0	122.0					X																	49957942		2203	4300	6503	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1395G>A	X.37:g.49957942C>T	ENSP00000365224:p.Met465Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.M474I	ENST00000376056.2	37	c.1422	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	4.775	0.144116	0.09134	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.06849	3.25;3.25;3.25	4.58	4.58	0.56647	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.64402	D	0.000012	T	0.11410	0.0278	M	0.65975	2.015	0.80722	D	1	B	0.34349	0.45	B	0.34138	0.176	T	0.05649	-1.0872	9	.	.	.	-11.2958	12.0015	0.53232	0.0:1.0:0.0:0.0	.	474	Q5JQC9	AKAP4_HUMAN	I	465;474;465	ENSP00000365224:M465I;ENSP00000351327:M474I;ENSP00000365232:M465I	.	M	-	3	0	AKAP4	49844682	1.000000	0.71417	0.968000	0.41197	0.357000	0.29423	3.900000	0.56295	1.874000	0.54306	0.458000	0.33432	ATG	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.438	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	C	NM_003886		49957942	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	missense	SNP	1.000	T
AKAP4	8852	genome.wustl.edu	37	X	49958260	49958260	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:49958260C>G	ENST00000376056.2	-	5	1227	c.1077G>C	c.(1075-1077)aaG>aaC	p.K359N	AKAP4_ENST00000376064.3_Missense_Mutation_p.K359N|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.K368N					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GCAACACCCTCTTCAGGACCA	0.463																																																	0													58.0	50.0	53.0					X																	49958260		2203	4300	6503	SO:0001583	missense	8852			AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.1077G>C	X.37:g.49958260C>G	ENSP00000365224:p.Lys359Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_AKAP_110_C,pfam_RII_binding_1,smart_AKAP_110	p.K368N	ENST00000376056.2	37	c.1104	CCDS14330.1	X	.	.	.	.	.	.	.	.	.	.	C	9.318	1.057378	0.19907	.	.	ENSG00000147081	ENST00000376056;ENST00000358526;ENST00000376064	T;T;T	0.13420	2.59;2.59;2.59	4.8	3.94	0.45596	A-kinase anchor 110kDa, C-terminal (1);	0.000000	0.51477	D	0.000085	T	0.27063	0.0663	M	0.77820	2.39	0.80722	D	1	P	0.52577	0.954	P	0.54060	0.741	T	0.01371	-1.1372	9	.	.	.	-10.856	8.2077	0.31465	0.0:0.8845:0.0:0.1155	.	368	Q5JQC9	AKAP4_HUMAN	N	359;368;359	ENSP00000365224:K359N;ENSP00000351327:K368N;ENSP00000365232:K359N	.	K	-	3	2	AKAP4	49845000	1.000000	0.71417	0.918000	0.36340	0.092000	0.18411	0.810000	0.27183	0.823000	0.34589	-0.374000	0.07098	AAG	AKAP4	-	pfam_AKAP_110_C,smart_AKAP_110		0.463	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP4	HGNC	protein_coding	OTTHUMT00000056552.1	C	NM_003886		49958260	-1	no_errors	ENST00000358526	ensembl	human	known	70_37	missense	SNP	0.987	G
AKAP6	9472	genome.wustl.edu	37	14	33291446	33291446	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:33291446C>G	ENST00000280979.4	+	13	4597	c.4427C>G	c.(4426-4428)tCa>tGa	p.S1476*	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1476					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCCAAGGCTCAAAACTCAAA	0.358																																					Melanoma(49;821 1200 7288 13647 42351)												0													75.0	72.0	73.0					14																	33291446		2203	4300	6503	SO:0001587	stop_gained	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.4427C>G	14.37:g.33291446C>G	ENSP00000280979:p.Ser1476*	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E242|A7E2D4|O15028	Nonsense_Mutation	SNP	smart_Spectrin/alpha-actinin	p.S1476*	ENST00000280979.4	37	c.4427	CCDS9644.1	14	.	.	.	.	.	.	.	.	.	.	C	43	9.931164	0.99298	.	.	ENSG00000151320	ENST00000280979	.	.	.	5.38	5.38	0.77491	.	0.326039	0.26467	N	0.024206	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-8.0228	17.3092	0.87204	0.0:1.0:0.0:0.0	.	.	.	.	X	1476	.	ENSP00000280979:S1476X	S	+	2	0	AKAP6	32361197	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.038000	0.64177	2.514000	0.84764	0.563000	0.77884	TCA	AKAP6	-	NULL		0.358	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	C	NM_004274		33291446	+1	no_errors	ENST00000280979	ensembl	human	known	70_37	nonsense	SNP	1.000	G
AKAP6	9472	genome.wustl.edu	37	14	33292215	33292215	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:33292215C>G	ENST00000280979.4	+	13	5366	c.5196C>G	c.(5194-5196)gtC>gtG	p.V1732V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1732					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		AAAGCGATGTCAATGTCAGCA	0.468																																					Melanoma(49;821 1200 7288 13647 42351)												0													185.0	153.0	164.0					14																	33292215		2203	4300	6503	SO:0001819	synonymous_variant	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.5196C>G	14.37:g.33292215C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E242|A7E2D4|O15028	Silent	SNP	smart_Spectrin/alpha-actinin	p.V1732	ENST00000280979.4	37	c.5196	CCDS9644.1	14																																																																																			AKAP6	-	NULL		0.468	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP6	HGNC	protein_coding	OTTHUMT00000276617.2	C	NM_004274		33292215	+1	no_errors	ENST00000280979	ensembl	human	known	70_37	silent	SNP	1.000	G
ALB	213	genome.wustl.edu	37	4	74282030	74282030	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:74282030G>A	ENST00000503124.1	+	8	1006	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ALB_ENST00000509063.1_Missense_Mutation_p.E417K|ALB_ENST00000505649.1_3'UTR|ALB_ENST00000415165.2_Missense_Mutation_p.E225K|ALB_ENST00000401494.3_Missense_Mutation_p.E302K|ALB_ENST00000295897.4_Missense_Mutation_p.E417K			Q8TES7	FBF1_HUMAN	albumin	0					apical junction assembly (GO:0043297)|cilium assembly (GO:0042384)|establishment of epithelial cell polarity (GO:0090162)	cell junction (GO:0030054)|centriole (GO:0005814)|ciliary transition fiber (GO:0097539)|spindle pole (GO:0000922)				NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ACAAAATTGTGAGCTTTTTGA	0.289																																																	0													60.0	61.0	60.0					4																	74282030		2203	4300	6503	SO:0001583	missense	213			V00494	CCDS3555.1	4q13.3	2008-02-05	2006-06-30	2006-06-30	ENSG00000163631	ENSG00000163631			399	protein-coding gene	gene with protein product		103600				6292049, 6192711	Standard	NM_000477		Approved		uc003hgs.4	P02768	OTTHUMG00000129919	ENST00000503124.1:c.799G>A	4.37:g.74282030G>A	ENSP00000421027:p.Glu267Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MEM5|Q96IF6|Q96JG4|Q96MA8	Missense_Mutation	SNP	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr,prints_Serum_albumin	p.E417K	ENST00000503124.1	37	c.1249		4	.	.	.	.	.	.	.	.	.	.	G	14.99	2.699336	0.48307	.	.	ENSG00000163631	ENST00000295897;ENST00000415165;ENST00000329326;ENST00000503124;ENST00000509063;ENST00000401494;ENST00000430202	T;T;T;T;T	0.71817	-0.6;-0.6;-0.6;-0.6;-0.6	5.98	5.13	0.70059	Serum albumin-like (1);Serum albumin, N-terminal (3);	0.665350	0.15613	N	0.253289	T	0.75910	0.3914	L	0.48986	1.54	0.41425	D	0.987827	P;P;P;P;P	0.47910	0.902;0.62;0.777;0.576;0.576	P;P;P;B;B	0.51806	0.527;0.482;0.68;0.366;0.366	T	0.77480	-0.2572	10	0.72032	D	0.01	-12.9919	15.8292	0.78739	0.0:0.1363:0.8637:0.0	.	302;225;267;417;417	B7WNR0;C9JKR2;D6RHD5;A6NBZ8;P02768	.;.;.;.;ALBU_HUMAN	K	417;225;204;267;417;302;426	ENSP00000295897:E417K;ENSP00000401820:E225K;ENSP00000421027:E267K;ENSP00000422784:E417K;ENSP00000384695:E302K	ENSP00000295897:E417K	E	+	1	0	ALB	74500894	1.000000	0.71417	0.991000	0.47740	0.258000	0.26162	5.538000	0.67193	1.498000	0.48600	0.591000	0.81541	GAG	ALB	-	pfam_Serum_albumin_N,superfamily_Serum_albumin-like,smart_Serum_albumin_N,pirsf_Serum_albumin_subgr		0.289	ALB-011	PUTATIVE	basic|exp_conf	protein_coding	ALB	HGNC	protein_coding	OTTHUMT00000365419.1	G	NM_000477		74282030	+1	no_errors	ENST00000295897	ensembl	human	known	70_37	missense	SNP	1.000	A
ALDH5A1	7915	genome.wustl.edu	37	6	24515501	24515501	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:24515501C>T	ENST00000357578.3	+	5	978	c.833C>T	c.(832-834)tCc>tTc	p.S278F	ALDH5A1_ENST00000348925.2_Missense_Mutation_p.S291F|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.S250F|ALDH5A1_ENST00000546278.1_Missense_Mutation_p.S190F	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	278					acetate metabolic process (GO:0006083)|central nervous system development (GO:0007417)|galactosylceramide metabolic process (GO:0006681)|gamma-aminobutyric acid catabolic process (GO:0009450)|glucose metabolic process (GO:0006006)|glucosylceramide metabolic process (GO:0006678)|glutamate metabolic process (GO:0006536)|glutamine metabolic process (GO:0006541)|glutathione metabolic process (GO:0006749)|glycerophospholipid metabolic process (GO:0006650)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|protein homotetramerization (GO:0051289)|respiratory electron transport chain (GO:0022904)|short-chain fatty acid metabolic process (GO:0046459)|succinate metabolic process (GO:0006105)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	protein homodimerization activity (GO:0042803)|succinate-semialdehyde dehydrogenase (NAD+) activity (GO:0004777)|succinate-semialdehyde dehydrogenase [NAD(P)+] activity (GO:0009013)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|Succinic acid(DB00139)|Valproic Acid(DB00313)	CCTCTGGTGTCCAAAATTTCC	0.383																																																	0													114.0	99.0	104.0					6																	24515501		2203	4300	6503	SO:0001583	missense	7915			L34820	CCDS4555.1, CCDS4556.1	6p22	2013-06-03	2008-07-31		ENSG00000112294	ENSG00000112294	1.2.1.24	"""Aldehyde dehydrogenases"""	408	protein-coding gene	gene with protein product	"""succinate-semialdehyde dehydrogenase"""	610045				7814412, 9059628	Standard	NM_001080		Approved	SSADH, SSDH	uc003nef.3	P51649	OTTHUMG00000014356	ENST00000357578.3:c.833C>T	6.37:g.24515501C>T	ENSP00000350191:p.Ser278Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD26|G5E949|Q546H9|Q8N3W6	Missense_Mutation	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH	p.S291F	ENST00000357578.3	37	c.872	CCDS4555.1	6	.	.	.	.	.	.	.	.	.	.	C	19.49	3.837082	0.71373	.	.	ENSG00000112294	ENST00000357578;ENST00000546278;ENST00000491546;ENST00000348925	D;D;D;D	0.91237	-2.81;-2.81;-2.81;-2.81	5.33	5.33	0.75918	Aldehyde dehydrogenase domain (1);Aldehyde dehydrogenase, N-terminal (1);Aldehyde/histidinol dehydrogenase (1);	0.365986	0.31020	N	0.008403	D	0.93973	0.8070	M	0.81802	2.56	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	P;P	0.62649	0.905;0.847	D	0.94294	0.7531	10	0.87932	D	0	-18.8709	14.7794	0.69754	0.0:0.8561:0.1439:0.0	.	278;291	P51649;G5E949	SSDH_HUMAN;.	F	278;190;250;291	ENSP00000350191:S278F;ENSP00000438193:S190F;ENSP00000417687:S250F;ENSP00000314649:S291F	ENSP00000314649:S291F	S	+	2	0	ALDH5A1	24623480	1.000000	0.71417	0.999000	0.59377	0.881000	0.50899	3.786000	0.55431	2.778000	0.95560	0.591000	0.81541	TCC	ALDH5A1	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH,tigrfam_Succ_semiAld_DH		0.383	ALDH5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH5A1	HGNC	protein_coding	OTTHUMT00000040007.2	C			24515501	+1	no_errors	ENST00000348925	ensembl	human	known	70_37	missense	SNP	1.000	T
ALKBH8	91801	genome.wustl.edu	37	11	107420538	107420538	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:107420538G>C	ENST00000428149.2	-	7	863	c.712C>G	c.(712-714)Cat>Gat	p.H238D	ALKBH8_ENST00000417449.2_Missense_Mutation_p.H241D|ALKBH8_ENST00000389568.3_Missense_Mutation_p.H238D|ALKBH8_ENST00000429370.1_Intron	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	238	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		GTATCAATATGAGCGGGAATT	0.368																																																	0													132.0	115.0	121.0					11																	107420538		692	1591	2283	SO:0001583	missense	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.712C>G	11.37:g.107420538G>C	ENSP00000415885:p.His238Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B1Q2M0|B4DEF6|Q8N989	Missense_Mutation	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.H241D	ENST00000428149.2	37	c.721	CCDS8337.2	11	.	.	.	.	.	.	.	.	.	.	G	23.1	4.380778	0.82792	.	.	ENSG00000137760	ENST00000428149;ENST00000389568;ENST00000417449	D;D;D	0.93953	-3.32;-3.32;-3.32	5.95	5.95	0.96441	Oxoglutarate/iron-dependent oxygenase (2);	0.112159	0.64402	D	0.000003	D	0.98096	0.9372	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98794	1.0737	10	0.87932	D	0	-11.4972	19.3802	0.94530	0.0:0.0:1.0:0.0	.	238	Q96BT7	ALKB8_HUMAN	D	238;238;241	ENSP00000415885:H238D;ENSP00000374219:H238D;ENSP00000397673:H241D	ENSP00000374219:H238D	H	-	1	0	ALKBH8	106925748	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.016000	0.88706	2.822000	0.97130	0.650000	0.86243	CAT	ALKBH8	-	pfam_Oxoglu/Fe-dep_dioxygenase		0.368	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	G	NM_138775		107420538	-1	no_errors	ENST00000417449	ensembl	human	known	70_37	missense	SNP	1.000	C
ALMS1	7840	genome.wustl.edu	37	2	73716937	73716937	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:73716937G>A	ENST00000264448.6	+	10	7959	c.7848G>A	c.(7846-7848)caG>caA	p.Q2616Q	ALMS1_ENST00000409009.1_Silent_p.Q2574Q|AC096546.1_ENST00000408160.1_RNA	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2616					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GAGGACGGCAGAACCCATCAT	0.458																																																	0													74.0	73.0	74.0					2																	73716937		1957	4146	6103	SO:0001819	synonymous_variant	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.7848G>A	2.37:g.73716937G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Silent	SNP	NULL	p.Q2616	ENST00000264448.6	37	c.7848	CCDS42697.1	2																																																																																			ALMS1	-	NULL		0.458	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73716937	+1	no_errors	ENST00000264448	ensembl	human	known	70_37	silent	SNP	0.756	A
ALMS1	7840	genome.wustl.edu	37	2	73828516	73828516	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:73828516G>C	ENST00000264448.6	+	19	12175	c.12064G>C	c.(12064-12066)Gag>Cag	p.E4022Q	ALMS1_ENST00000464408.2_3'UTR|ALMS1_ENST00000409009.1_Missense_Mutation_p.E3980Q	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4022					endosomal transport (GO:0016197)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of stress fiber assembly (GO:0051492)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAGGCAGAGAGGCTGGCAG	0.577																																																	0													34.0	40.0	38.0					2																	73828516		2199	4300	6499	SO:0001583	missense	7840			AB002326	CCDS42697.1	2p13.1	2014-09-17			ENSG00000116127	ENSG00000116127			428	protein-coding gene	gene with protein product		606844				9063741	Standard	NM_015120		Approved	KIAA0328	uc002sje.1	Q8TCU4	OTTHUMG00000152812	ENST00000264448.6:c.12064G>C	2.37:g.73828516G>C	ENSP00000264448:p.Glu4022Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53S05|Q580Q8|Q86VP9|Q9Y4G4	Missense_Mutation	SNP	NULL	p.E4022Q	ENST00000264448.6	37	c.12064	CCDS42697.1	2	.	.	.	.	.	.	.	.	.	.	G	9.270	1.045474	0.19748	.	.	ENSG00000116127	ENST00000409009;ENST00000264448	T;T	0.06687	3.27;3.27	3.59	1.7	0.24286	.	1.502820	0.03907	N	0.281215	T	0.06690	0.0171	N	0.22421	0.69	0.09310	N	1	B;B	0.32620	0.274;0.378	B;B	0.29353	0.093;0.101	T	0.34601	-0.9822	10	0.45353	T	0.12	.	6.095	0.20015	0.2527:0.0:0.7473:0.0	.	3980;4022	B8ZZJ3;Q8TCU4	.;ALMS1_HUMAN	Q	3980;4022	ENSP00000386627:E3980Q;ENSP00000264448:E4022Q	ENSP00000264448:E4022Q	E	+	1	0	ALMS1	73682024	0.017000	0.18338	0.002000	0.10522	0.009000	0.06853	1.503000	0.35715	0.699000	0.31761	0.491000	0.48974	GAG	ALMS1	-	NULL		0.577	ALMS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ALMS1	HGNC	protein_coding	OTTHUMT00000327776.1	G	NM_015120		73828516	+1	no_errors	ENST00000264448	ensembl	human	known	70_37	missense	SNP	0.001	C
ALOX12	239	genome.wustl.edu	37	17	6902050	6902050	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:6902050G>A	ENST00000251535.6	+	4	489	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	AC027763.2_ENST00000399541.2_Intron|RP11-589P10.7_ENST00000572547.1_RNA	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	146	Lipoxygenase. {ECO:0000255|PROSITE- ProRule:PRU00726}.				aging (GO:0007568)|arachidonic acid metabolic process (GO:0019369)|cellular component movement (GO:0006928)|cellular response to lipid (GO:0071396)|establishment of skin barrier (GO:0061436)|fatty acid oxidation (GO:0019395)|hepoxilin biosynthetic process (GO:0051122)|hepoxilin metabolic process (GO:0051121)|leukotriene A4 metabolic process (GO:1901751)|linoleic acid metabolic process (GO:0043651)|lipoxin A4 biosynthetic process (GO:2001303)|lipoxin B4 biosynthetic process (GO:2001306)|lipoxin metabolic process (GO:2001300)|lipoxygenase pathway (GO:0019372)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of platelet aggregation (GO:0090331)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of gene expression (GO:0010628)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of vasodilation (GO:0045909)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|superoxide anion generation (GO:0042554)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|sarcolemma (GO:0042383)	arachidonate 12-lipoxygenase activity (GO:0004052)|hepoxilin A3 synthase activity (GO:0051120)|hepoxilin-epoxide hydrolase activity (GO:0047977)|iron ion binding (GO:0005506)|linoleate 13S-lipoxygenase activity (GO:0016165)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen (GO:0016702)			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						CACCTGGAAGGAAGGGTTACC	0.562																																																	0													63.0	53.0	56.0					17																	6902050		2203	4300	6503	SO:0001583	missense	239			M35418	CCDS11084.1	17p13.1	2010-01-14			ENSG00000108839	ENSG00000108839	1.13.11.31	"""Arachidonate lipoxygenases"""	429	protein-coding gene	gene with protein product	"""platelet 12-LOX"""	152391				1570320	Standard	NM_000697		Approved	12S-LOX	uc002gdx.4	P18054	OTTHUMG00000102088	ENST00000251535.6:c.436G>A	17.37:g.6902050G>A	ENSP00000251535:p.Glu146Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95569|Q6ISF8|Q9UQM4	Missense_Mutation	SNP	pfam_LipOase_C,pfam_LipOase_LH2,superfamily_LipOase_C,superfamily_Lipase_LipOase,smart_LipOase_LH2,pfscan_LipOase_LH2,prints_LipOase_mml,prints_LipOase_C	p.E146K	ENST00000251535.6	37	c.436	CCDS11084.1	17	.	.	.	.	.	.	.	.	.	.	G	14.32	2.499335	0.44455	.	.	ENSG00000108839	ENST00000251535	T	0.06142	3.34	5.04	1.87	0.25490	Lipoxygenase, C-terminal (2);	0.719415	0.13797	N	0.362062	T	0.04318	0.0119	N	0.20685	0.6	0.33469	D	0.586003	B	0.10296	0.003	B	0.10450	0.005	T	0.16512	-1.0400	10	0.40728	T	0.16	-12.9695	6.8212	0.23859	0.0931:0.345:0.562:0.0	.	146	P18054	LOX12_HUMAN	K	146	ENSP00000251535:E146K	ENSP00000251535:E146K	E	+	1	0	ALOX12	6842774	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	0.423000	0.21313	0.775000	0.33450	0.544000	0.68410	GAA	ALOX12	-	superfamily_LipOase_C,prints_LipOase_mml		0.562	ALOX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALOX12	HGNC	protein_coding	OTTHUMT00000219922.2	G			6902050	+1	no_errors	ENST00000251535	ensembl	human	known	70_37	missense	SNP	0.997	A
ALS2	57679	genome.wustl.edu	37	2	202630302	202630302	+	Intron	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:202630302C>A	ENST00000264276.6	-	3	548				ALS2_ENST00000467448.1_Intron|ALS2_ENST00000496244.1_Intron	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)						behavioral fear response (GO:0001662)|cell death (GO:0008219)|endosomal transport (GO:0016197)|endosome organization (GO:0007032)|locomotory behavior (GO:0007626)|neuromuscular junction development (GO:0007528)|neuron projection morphogenesis (GO:0048812)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Rab GTPase activity (GO:0032851)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rac protein signal transduction (GO:0035022)|positive regulation of Ran GTPase activity (GO:0032853)|protein localization (GO:0008104)|receptor recycling (GO:0001881)|regulation of endosome size (GO:0051036)|response to oxidative stress (GO:0006979)|synaptic transmission, glutamatergic (GO:0035249)|vesicle organization (GO:0016050)	centrosome (GO:0005813)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|early endosome (GO:0005769)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|postsynaptic density (GO:0014069)|protein complex (GO:0043234)|ruffle (GO:0001726)|vesicle (GO:0031982)	protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|Rab GTPase binding (GO:0017137)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						ATCCTTGTTTCCTAGAATTTG	0.284																																																	0																																										SO:0001627	intron_variant	57679			AB053305	CCDS42800.1, CCDS46492.1	2q33-q35	2014-09-17	2004-06-23		ENSG00000003393	ENSG00000003393		"""Rho guanine nucleotide exchange factors"""	443	protein-coding gene	gene with protein product	"""alsin"""	606352	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 6"""	ALS2CR6		11586298	Standard	NM_020919		Approved		uc002uyo.3	Q96Q42	OTTHUMG00000154507	ENST00000264276.6:c.175+1649G>T	2.37:g.202630302C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TT1|Q53TV2|Q8N1E0|Q96PC4|Q96Q41|Q9H973|Q9HCK9	RNA	SNP	-	NULL	ENST00000264276.6	37	NULL	CCDS42800.1	2																																																																																			ALS2	-	-		0.284	ALS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALS2	HGNC	protein_coding	OTTHUMT00000335562.3	C	NM_020919		202630302	-1	no_errors	ENST00000462747	ensembl	human	known	70_37	rna	SNP	0.049	A
AMPD3	272	genome.wustl.edu	37	11	10483213	10483213	+	Silent	SNP	C	C	T	rs141926261		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:10483213C>T	ENST00000396554.3	+	2	515	c.174C>T	c.(172-174)atC>atT	p.I58I	AMPD3_ENST00000444303.2_5'UTR	NM_000480.2	NP_000471.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	49					ADP metabolic process (GO:0046031)|AMP catabolic process (GO:0006196)|ATP metabolic process (GO:0046034)|energy homeostasis (GO:0097009)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		ACTGCCCCATCGGGCAAAAGG	0.557																																																	0								C	,,,,	1,4401	2.1+/-5.4	0,1,2200	53.0	53.0	53.0		174,147,168,147,	-6.5	0.6	11	dbSNP_134	53	0,8588		0,0,4294	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,utr-5	AMPD3	NM_000480.2,NM_001025389.1,NM_001025390.1,NM_001172430.1,NM_001172431.1	,,,,	0,1,6494	TT,TC,CC		0.0,0.0227,0.0077	,,,,	58/777,49/768,56/775,49/768,	10483213	1,12989	2201	4294	6495	SO:0001819	synonymous_variant	272			M84722	CCDS7802.1, CCDS41617.1, CCDS44537.1, CCDS53601.1	11p15	2010-02-10	2010-02-10			ENSG00000133805	3.5.4.6		470	protein-coding gene	gene with protein product	"""erythrocyte-specific AMP deaminase"""	102772	"""adenosine monophosphate deaminase (isoform E)"""			1400401	Standard	NM_001172430		Approved		uc001min.1	Q01432		ENST00000396554.3:c.174C>T	11.37:g.10483213C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUX0|B7Z2S2|B7Z763|B7Z877	Silent	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.I49	ENST00000396554.3	37	c.147	CCDS7802.1	11																																																																																			AMPD3	-	pirsf_AMP_deaminase		0.557	AMPD3-001	PUTATIVE	basic|CCDS	protein_coding	AMPD3	HGNC	protein_coding	OTTHUMT00000385783.2	C	NM_000480		10483213	+1	no_errors	ENST00000396553	ensembl	human	known	70_37	silent	SNP	0.843	T
AMPH	273	genome.wustl.edu	37	7	38431444	38431444	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:38431444G>A	ENST00000356264.2	-	19	1998	c.1783C>T	c.(1783-1785)Cag>Tag	p.Q595*	AMPH_ENST00000325590.5_Nonsense_Mutation_p.Q553*|AMPH_ENST00000471913.1_5'Flank|AMPH_ENST00000428293.2_Nonsense_Mutation_p.Q553*	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	595					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GGCGTGGGCTGAGGGTCCTGG	0.632																																																	0													54.0	50.0	51.0					7																	38431444		2203	4300	6503	SO:0001587	stop_gained	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1783C>T	7.37:g.38431444G>A	ENSP00000348602:p.Gln595*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Nonsense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.Q595*	ENST00000356264.2	37	c.1783	CCDS5456.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	38|38	6.655965|6.655965	0.97739|0.97739	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242|ENST00000441628	.|.	.|.	.|.	5.32|5.32	4.42|4.42	0.53409|0.53409	.|.	0.961864|.	0.08664|.	N|.	0.911934|.	.|T	.|0.70753	.|0.3260	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74680	.|-0.3584	.|3	0.10377|.	T|.	0.69|.	-3.1787|-3.1787	15.8462|15.8462	0.78895|0.78895	0.0:0.1362:0.8638:0.0|0.0:0.1362:0.8638:0.0	.|.	.|.	.|.	.|.	X|L	553;595;553;497|477	.|.	ENSP00000317441:Q553X|.	Q|S	-|-	1|2	0|0	AMPH|AMPH	38397969|38397969	0.999000|0.999000	0.42202|0.42202	0.055000|0.055000	0.19348|0.19348	0.080000|0.080000	0.17528|0.17528	3.026000|3.026000	0.49689|0.49689	1.208000|1.208000	0.43306|0.43306	0.591000|0.591000	0.81541|0.81541	CAG|TCA	AMPH	-	NULL		0.632	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	G	NM_001635		38431444	-1	no_errors	ENST00000356264	ensembl	human	known	70_37	nonsense	SNP	0.756	A
AMPH	273	genome.wustl.edu	37	7	38500909	38500909	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:38500909C>G	ENST00000356264.2	-	11	1206	c.991G>C	c.(991-993)Gaa>Caa	p.E331Q	AMPH_ENST00000325590.5_Missense_Mutation_p.E331Q|AMPH_ENST00000428293.2_Missense_Mutation_p.E331Q	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	331					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						ACACTGATTTCTGGAACAAAG	0.507																																																	0													178.0	174.0	176.0					7																	38500909		2203	4300	6503	SO:0001583	missense	273				CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.991G>C	7.37:g.38500909C>G	ENSP00000348602:p.Glu331Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	pfam_BAR_dom,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain,prints_Amphiphysin,prints_Amphiphysin_1,prints_SH3_domain	p.E331Q	ENST00000356264.2	37	c.991	CCDS5456.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.718668|4.718668	0.89205|0.89205	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000544070|ENST00000441628	T;T;T|.	0.66280|.	-0.1;-0.2;-0.03|.	5.77|5.77	5.77|5.77	0.91146|0.91146	.|.	0.176030|.	0.48767|.	D|.	0.000174|.	T|T	0.76695|0.76695	0.4023|0.4023	M|M	0.70275|0.70275	2.135|2.135	0.58432|0.58432	D|D	0.999999|0.999999	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.83275|.	0.975;0.973;0.996|.	T|T	0.74269|0.74269	-0.3720|-0.3720	10|5	0.51188|.	T|.	0.08|.	-25.4616|-25.4616	19.9922|19.9922	0.97370|0.97370	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	331;331;87|.	P49418-2;P49418;Q8NFL4|.	.;AMPH_HUMAN;.|.	Q|T	331;331;331;101;334|81	ENSP00000317441:E331Q;ENSP00000348602:E331Q;ENSP00000390734:E331Q|.	ENSP00000317441:E331Q|.	E|R	-|-	1|2	0|0	AMPH|AMPH	38467434|38467434	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.966000|0.966000	0.64601|0.64601	4.613000|4.613000	0.61176|0.61176	2.740000|2.740000	0.93945|0.93945	0.557000|0.557000	0.71058|0.71058	GAA|AGA	AMPH	-	NULL		0.507	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPH	HGNC	protein_coding	OTTHUMT00000226953.2	C	NM_001635		38500909	-1	no_errors	ENST00000356264	ensembl	human	known	70_37	missense	SNP	1.000	G
AMZ2	51321	genome.wustl.edu	37	17	66247275	66247275	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:66247275G>C	ENST00000359904.3	+	4	1674	c.542G>C	c.(541-543)aGa>aCa	p.R181T	AMZ2_ENST00000392720.2_Missense_Mutation_p.R181T|AMZ2_ENST00000577273.1_Missense_Mutation_p.R181T|AMZ2_ENST00000359783.4_Missense_Mutation_p.R123T|AMZ2_ENST00000580753.1_Missense_Mutation_p.R181T|AMZ2_ENST00000577866.1_Missense_Mutation_p.R181T|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000577985.1_Missense_Mutation_p.R181T	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	181							metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTTTACCCAAGAGACTCGTGG	0.378																																																	0													154.0	153.0	153.0					17																	66247275		2203	4300	6503	SO:0001583	missense	51321			CR609550	CCDS11674.1, CCDS32714.1	17q24.2	2010-04-08			ENSG00000196704	ENSG00000196704			28041	protein-coding gene	gene with protein product	"""archaemetzincin-2"""	615169				15972818	Standard	XM_005257436		Approved		uc002jgr.1	Q86W34		ENST00000359904.3:c.542G>C	17.37:g.66247275G>C	ENSP00000352976:p.Arg181Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLD9|B3KR44|Q5XKF1|Q9NZE2	Missense_Mutation	SNP	pfam_Pept_M54_archaemetzincn	p.R181T	ENST00000359904.3	37	c.542	CCDS11674.1	17	.	.	.	.	.	.	.	.	.	.	G	6.729	0.503274	0.12822	.	.	ENSG00000196704	ENST00000359904;ENST00000359783;ENST00000392720	T;T;T	0.71579	-0.58;-0.58;-0.58	3.48	2.4	0.29515	.	0.151725	0.40908	D	0.000982	T	0.67316	0.2880	M	0.62723	1.935	0.28450	N	0.916379	P;D	0.53619	0.835;0.961	B;P	0.49637	0.42;0.617	T	0.58758	-0.7580	10	0.16420	T	0.52	-10.9872	7.6211	0.28185	0.1472:0.0:0.8528:0.0	.	123;181	A6NLD9;Q86W34	.;AMZ2_HUMAN	T	181;123;181	ENSP00000352976:R181T;ENSP00000352831:R123T;ENSP00000376481:R181T	ENSP00000352831:R123T	R	+	2	0	AMZ2	63758870	0.937000	0.31787	1.000000	0.80357	0.704000	0.40688	1.171000	0.31896	1.787000	0.52448	0.306000	0.20318	AGA	AMZ2	-	NULL		0.378	AMZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMZ2	HGNC	protein_coding	OTTHUMT00000448261.1	G	NM_016627		66247275	+1	no_errors	ENST00000359904	ensembl	human	known	70_37	missense	SNP	1.000	C
ANAPC1	64682	genome.wustl.edu	37	2	112638298	112638298	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:112638298C>T	ENST00000341068.3	-	2	877	c.105G>A	c.(103-105)ttG>ttA	p.L35L	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTTGAAGGTTCAAAGCATTAG	0.488																																																	0													64.0	62.0	63.0					2																	112638298		2203	4299	6502	SO:0001819	synonymous_variant	64682			AJ278357	CCDS2093.1	2q12.1	2011-06-15			ENSG00000153107	ENSG00000153107		"""Anaphase promoting complex subunits"""	19988	protein-coding gene	gene with protein product		608473				11179667	Standard	NM_022662		Approved	MCPR, TSG24, APC1	uc002ssh.3	Q9H1A4	OTTHUMG00000131277	ENST00000341068.3:c.105G>A	2.37:g.112638298C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3H8|Q9BSE6|Q9H8D0	Silent	SNP	NULL	p.L35	ENST00000341068.3	37	c.105	CCDS2093.1	2																																																																																			ANAPC1	-	NULL		0.488	ANAPC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANAPC1	HGNC	protein_coding	OTTHUMT00000254045.2	C	NM_022662		112638298	-1	no_errors	ENST00000341068	ensembl	human	known	70_37	silent	SNP	1.000	T
ANK2	287	genome.wustl.edu	37	4	114278256	114278256	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:114278256G>C	ENST00000357077.4	+	38	8535	c.8482G>C	c.(8482-8484)Gat>Cat	p.D2828H	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.D2795H|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2828					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGAAGAGCTTGATGTTTCTAG	0.423																																																	0													110.0	109.0	109.0					4																	114278256		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.8482G>C	4.37:g.114278256G>C	ENSP00000349588:p.Asp2828His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.D2828H	ENST00000357077.4	37	c.8482	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	13.69	2.312156	0.40895	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.69175	-0.37;-0.38	5.75	2.0	0.26442	.	1.530730	0.03735	N	0.254042	T	0.63260	0.2496	M	0.71581	2.175	0.09310	N	1	B;B	0.13145	0.004;0.007	B;B	0.16722	0.007;0.016	T	0.32241	-0.9914	9	.	.	.	.	1.3952	0.02259	0.3258:0.1347:0.4009:0.1386	.	2795;2828	Q01484;Q01484-4	ANK2_HUMAN;.	H	2828;2795	ENSP00000349588:D2828H;ENSP00000264366:D2795H	.	D	+	1	0	ANK2	114497705	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.671000	0.25172	0.049000	0.15920	0.650000	0.86243	GAT	ANK2	-	NULL		0.423	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114278256	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.000	C
ANK3	288	genome.wustl.edu	37	10	61815703	61815703	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:61815703C>T	ENST00000280772.2	-	42	12969	c.12778G>A	c.(12778-12780)Gaa>Aaa	p.E4260K	ANK3_ENST00000355288.2_Missense_Mutation_p.E884K|ANK3_ENST00000373827.2_Missense_Mutation_p.E1744K|ANK3_ENST00000503366.1_Missense_Mutation_p.E1751K|RP11-388P9.2_ENST00000414383.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4260					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GTCTTTGCTTCTGGAGTGATT	0.403																																																	0													151.0	148.0	149.0					10																	61815703		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12778G>A	10.37:g.61815703C>T	ENSP00000280772:p.Glu4260Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.E4260K	ENST00000280772.2	37	c.12778	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	34	5.311103	0.95629	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.70045	-0.21;-0.44;0.36;0.44;0.31;-0.45	5.89	5.89	0.94794	.	0.000000	0.43416	D	0.000568	T	0.72795	0.3505	L	0.27053	0.805	0.80722	D	1	B;B;B;P;B;B;P	0.47191	0.083;0.083;0.083;0.891;0.135;0.083;0.817	B;B;B;P;B;B;B	0.60012	0.016;0.016;0.016;0.867;0.059;0.016;0.217	T	0.72462	-0.4286	10	0.51188	T	0.08	.	20.2566	0.98424	0.0:1.0:0.0:0.0	.	1751;884;1744;4260;985;884;283	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	K	4260;1744;342;32;884;1751;1730;985	ENSP00000280772:E4260K;ENSP00000362933:E1744K;ENSP00000362926:E342K;ENSP00000423057:E32K;ENSP00000347436:E884K;ENSP00000425236:E1751K	ENSP00000280772:E4260K	E	-	1	0	ANK3	61485709	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	3.108000	0.50337	2.793000	0.96121	0.561000	0.74099	GAA	ANK3	-	NULL		0.403	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61815703	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61815726	61815726	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:61815726C>T	ENST00000280772.2	-	42	12946	c.12755G>A	c.(12754-12756)gGa>gAa	p.G4252E	ANK3_ENST00000355288.2_Missense_Mutation_p.G876E|ANK3_ENST00000373827.2_Missense_Mutation_p.G1736E|ANK3_ENST00000503366.1_Missense_Mutation_p.G1743E|RP11-388P9.2_ENST00000414383.1_RNA	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	4252					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGTATGGCTTCCATTTGCTTC	0.398																																																	0													118.0	116.0	117.0					10																	61815726		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.12755G>A	10.37:g.61815726C>T	ENSP00000280772:p.Gly4252Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G4252E	ENST00000280772.2	37	c.12755	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	22.6	4.306476	0.81247	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000373820;ENST00000502769;ENST00000355288;ENST00000503366;ENST00000395299;ENST00000373817	T;T;T;T;T;T	0.79352	-0.84;-1.26;0.49;0.32;-0.41;-1.24	5.89	5.89	0.94794	.	0.000000	0.41294	D	0.000903	T	0.81216	0.4776	L	0.27053	0.805	0.80722	D	1	D;D;D;D;D;D;B	0.71674	0.967;0.982;0.967;0.998;0.989;0.982;0.355	P;P;P;D;D;P;B	0.73708	0.622;0.834;0.622;0.981;0.92;0.834;0.1	T	0.82358	-0.0497	10	0.62326	D	0.03	.	15.0252	0.71663	0.1422:0.8578:0.0:0.0	.	1743;876;1736;4252;977;876;275	E9PE32;A8KA62;Q5CZH9;Q12955;F5GXK0;B1AQT2;B1AQT0	.;.;.;ANK3_HUMAN;.;.;.	E	4252;1736;334;24;876;1743;1722;977	ENSP00000280772:G4252E;ENSP00000362933:G1736E;ENSP00000362926:G334E;ENSP00000423057:G24E;ENSP00000347436:G876E;ENSP00000425236:G1743E	ENSP00000280772:G4252E	G	-	2	0	ANK3	61485732	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.679000	0.61649	2.793000	0.96121	0.561000	0.74099	GGA	ANK3	-	NULL		0.398	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61815726	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T
ANK3	288	genome.wustl.edu	37	10	61898737	61898737	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:61898737C>T	ENST00000280772.2	-	24	2914	c.2723G>A	c.(2722-2724)gGa>gAa	p.G908E	ANK3_ENST00000355288.2_Missense_Mutation_p.G42E|ANK3_ENST00000373827.2_Missense_Mutation_p.G902E|ANK3_ENST00000460468.1_Missense_Mutation_p.G72E|ANK3_ENST00000503366.1_Missense_Mutation_p.G909E	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	908					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAACGCGCTCCGAGACTAAA	0.428																																																	0													155.0	132.0	139.0					10																	61898737		2203	4300	6503	SO:0001583	missense	288			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.2723G>A	10.37:g.61898737C>T	ENSP00000280772:p.Gly908Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G908E	ENST00000280772.2	37	c.2723	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.105050	0.94245	.	.	ENSG00000151150	ENST00000280772;ENST00000373827;ENST00000355288;ENST00000423532;ENST00000503366;ENST00000395299;ENST00000373817;ENST00000395293;ENST00000395304;ENST00000544789;ENST00000536348;ENST00000373815;ENST00000513049;ENST00000506635;ENST00000460468;ENST00000474360	T;T;T;T;T;T;T;T;T	0.63417	-0.04;2.25;2.25;2.25;2.25;2.25;2.25;2.25;2.25	5.91	5.91	0.95273	.	0.000000	0.42053	D	0.000768	T	0.78201	0.4246	L	0.56396	1.775	0.80722	D	1	B;D;B;B;B;D;P;D	0.89917	0.001;1.0;0.0;0.265;0.007;1.0;0.729;1.0	B;D;B;B;B;D;B;D	0.97110	0.004;1.0;0.0;0.144;0.005;0.999;0.236;0.998	T	0.77051	-0.2731	10	0.56958	D	0.05	.	20.3053	0.98627	0.0:1.0:0.0:0.0	.	909;42;548;431;902;908;143;42	E9PE32;A8KA62;E7EMJ1;Q59G01;Q5CZH9;Q12955;F5GXK0;B1AQT2	.;.;.;.;.;ANK3_HUMAN;.;.	E	908;902;42;42;909;888;143;548;543;41;431;33;33;33;72;100	ENSP00000280772:G908E;ENSP00000362933:G902E;ENSP00000347436:G42E;ENSP00000425236:G909E;ENSP00000362921:G33E;ENSP00000426582:G33E;ENSP00000422506:G33E;ENSP00000426690:G72E;ENSP00000422657:G100E	ENSP00000280772:G908E	G	-	2	0	ANK3	61568743	1.000000	0.71417	0.996000	0.52242	0.834000	0.47266	7.487000	0.81328	2.808000	0.96608	0.655000	0.94253	GGA	ANK3	-	NULL		0.428	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4	C	NM_020987		61898737	-1	no_errors	ENST00000280772	ensembl	human	known	70_37	missense	SNP	1.000	T
ANKFY1	51479	genome.wustl.edu	37	17	4120286	4120286	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:4120286G>A	ENST00000341657.4	-	4	485	c.450C>T	c.(448-450)ctC>ctT	p.L150L	ANKFY1_ENST00000433651.1_Silent_p.L150L|ANKFY1_ENST00000570535.1_Silent_p.L192L|ANKFY1_ENST00000574367.1_Silent_p.L150L	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	150					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCCTCTCCCTGAGGAGCTGTA	0.468																																																	0													90.0	83.0	85.0					17																	4120286		1959	4152	6111	SO:0001819	synonymous_variant	51479			AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.450C>T	17.37:g.4120286G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA65|Q5RKV4|Q9ULG5	Silent	SNP	pfam_Ankyrin_rpt,pfam_Znf_FYVE,pfam_BTB_POZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_BTB/POZ_fold,superfamily_Znf_FYVE_PHD,smart_BTB/POZ-like,smart_Ankyrin_rpt,smart_Znf_FYVE,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like,pfscan_Znf_FYVE-rel,prints_Ankyrin_rpt	p.L192	ENST00000341657.4	37	c.576		17																																																																																			ANKFY1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like		0.468	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	ANKFY1	HGNC	protein_coding	OTTHUMT00000438702.1	G	NM_016376		4120286	-1	no_errors	ENST00000570535	ensembl	human	known	70_37	silent	SNP	0.886	A
ANKRD18CP	100287922	genome.wustl.edu	37	9	99942787	99942787	+	IGR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:99942787C>G								RP11-520B13.4 (98560 upstream) : RNU6-798P (12417 downstream)																							TAAACATCATCTGCTCTCTGT	0.358																																																	0																																										SO:0001628	intergenic_variant	100287922																															9.37:g.99942787C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		9																																																																																			ANKRD18CP	-	-	0	0.358					ANKRD18CP	HGNC			C			99942787	-1	no_errors	ENST00000354752	ensembl	human	known	70_37	rna	SNP	0.990	G
ANKRD24	170961	genome.wustl.edu	37	19	4217321	4217321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4217321C>T	ENST00000600132.1	+	18	2440	c.2164C>T	c.(2164-2166)Caa>Taa	p.Q722*	ANKRD24_ENST00000318934.4_Nonsense_Mutation_p.Q722*|ANKRD24_ENST00000262970.5_Nonsense_Mutation_p.Q812*	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	722										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0233)|STAD - Stomach adenocarcinoma(1328;0.181)		GGAAAAGCTTCAAGTAGAGCT	0.667																																																	0													11.0	14.0	13.0					19																	4217321		1927	3970	5897	SO:0001587	stop_gained	170961			AB075861	CCDS45925.1	19p13.3	2013-01-10				ENSG00000089847		"""Ankyrin repeat domain containing"""	29424	protein-coding gene	gene with protein product						11853319	Standard	NM_133475		Approved	KIAA1981	uc010dtt.1	Q8TF21		ENST00000600132.1:c.2164C>T	19.37:g.4217321C>T	ENSP00000471252:p.Gln722*	Somatic		WXS	Illumina HiSeq	Phase_IV	O75268|O95781	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q722*	ENST00000600132.1	37	c.2164	CCDS45925.1	19	.	.	.	.	.	.	.	.	.	.	c	37	6.583051	0.97684	.	.	ENSG00000089847	ENST00000318934;ENST00000262970	.	.	.	4.07	4.07	0.47477	.	0.000000	0.30446	U	0.009610	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.1374	12.1315	0.53946	0.0:0.825:0.175:0.0	.	.	.	.	X	722;812	.	ENSP00000262970:Q812X	Q	+	1	0	ANKRD24	4168321	0.039000	0.19947	0.762000	0.31397	0.735000	0.41995	0.810000	0.27183	2.282000	0.76494	0.407000	0.27541	CAA	ANKRD24	-	NULL		0.667	ANKRD24-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ANKRD24	HGNC	protein_coding	OTTHUMT00000458188.1	C	XM_114000		4217321	+1	no_errors	ENST00000318934	ensembl	human	known	70_37	nonsense	SNP	0.973	T
ANKRD30B	374860	genome.wustl.edu	37	18	14799120	14799120	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:14799120C>T	ENST00000358984.4	+	21	2230	c.2050C>T	c.(2050-2052)Ctt>Ttt	p.L684F	ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	684								p.L684I(1)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TAATGATGGTCTTCTGAAGGT	0.279																																																	1	Substitution - Missense(1)	lung(1)											85.0	61.0	68.0					18																	14799120		692	1586	2278	SO:0001583	missense	374860			BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.2050C>T	18.37:g.14799120C>T	ENSP00000351875:p.Leu684Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L684F	ENST00000358984.4	37	c.2050	CCDS54182.1	18	.	.	.	.	.	.	.	.	.	.	N	2.468	-0.322527	0.05350	.	.	ENSG00000180777	ENST00000358984	T	0.06142	3.34	0.968	0.968	0.19680	.	.	.	.	.	T	0.06050	0.0157	N	0.08118	0	0.09310	N	1	P	0.47106	0.89	P	0.54965	0.765	T	0.40831	-0.9542	9	0.38643	T	0.18	.	5.3184	0.15868	0.0:1.0:0.0:0.0	.	684	F8WAG3	.	F	684	ENSP00000351875:L684F	ENSP00000351875:L684F	L	+	1	0	ANKRD30B	14789120	0.045000	0.20229	0.001000	0.08648	0.002000	0.02628	0.600000	0.24104	0.825000	0.34637	0.384000	0.25694	CTT	ANKRD30B	-	NULL		0.279	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD30B	HGNC	protein_coding	OTTHUMT00000443557.1	C	NM_001145029		14799120	+1	no_errors	ENST00000358984	ensembl	human	known	70_37	missense	SNP	0.001	T
ANKRD36	375248	genome.wustl.edu	37	2	97875577	97875577	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:97875577G>C	ENST00000461153.2	+	56	3579	c.3335G>C	c.(3334-3336)aGa>aCa	p.R1112T	ANKRD36_ENST00000420699.2_Missense_Mutation_p.R1112T			A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1112										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TATATAGCCAGAGAAAAAAAG	0.323																																																	0													73.0	87.0	83.0					2																	97875577		692	1590	2282	SO:0001583	missense	375248			BC046186	CCDS54379.1	2q11.2	2013-09-24			ENSG00000135976	ENSG00000135976		"""Ankyrin repeat domain containing"""	24079	protein-coding gene	gene with protein product						12975309	Standard	NM_001164315		Approved	UNQ2430	uc010yva.2	A6QL64	OTTHUMG00000155256	ENST00000461153.2:c.3335G>C	2.37:g.97875577G>C	ENSP00000419530:p.Arg1112Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3I8|Q6UX02|Q86X62|Q9HCD1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R1112T	ENST00000461153.2	37	c.3335	CCDS54379.1	2	.	.	.	.	.	.	.	.	.	.	.	0.024	-1.390337	0.01185	.	.	ENSG00000135976	ENST00000461153;ENST00000420699	T;T	0.74737	-0.87;-0.87	0.167	0.167	0.15006	.	.	.	.	.	T	0.45597	0.1350	N	0.11927	0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31586	-0.9938	8	0.02654	T	1	.	.	.	.	.	1112	A6QL64	AN36A_HUMAN	T	1112	ENSP00000419530:R1112T;ENSP00000391950:R1112T	ENSP00000391950:R1112T	R	+	2	0	ANKRD36	97239304	0.000000	0.05858	0.002000	0.10522	0.002000	0.02628	-1.731000	0.01853	-0.783000	0.04534	-0.775000	0.03384	AGA	ANKRD36	-	NULL		0.323	ANKRD36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD36	HGNC	protein_coding	OTTHUMT00000339154.5	G			97875577	+1	no_errors	ENST00000420699	ensembl	human	known	70_37	missense	SNP	0.002	C
ANKRD44	91526	genome.wustl.edu	37	2	197873681	197873681	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:197873681C>T	ENST00000328737.2	-	19	2000	c.1924G>A	c.(1924-1926)Gat>Aat	p.D642N	ANKRD44_ENST00000282272.8_Missense_Mutation_p.D659N|ANKRD44_ENST00000337207.5_Missense_Mutation_p.D642N|ANKRD44_ENST00000450567.1_Missense_Mutation_p.D642N			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	667										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTTTGGCATCTTTCACATCG	0.458																																																	0													129.0	125.0	126.0					2																	197873681		2203	4300	6503	SO:0001583	missense	91526			AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.1924G>A	2.37:g.197873681C>T	ENSP00000331516:p.Asp642Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.D642N	ENST00000328737.2	37	c.1924		2	.	.	.	.	.	.	.	.	.	.	C	31	5.079706	0.94050	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207	T;T;T;T;T	0.17528	2.28;2.28;2.27;2.27;2.27	4.47	4.47	0.54385	.	0.120014	0.53938	D	0.000049	T	0.33585	0.0868	L	0.41236	1.265	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.03296	-1.1051	10	0.40728	T	0.16	.	17.3172	0.87227	0.0:1.0:0.0:0.0	.	685	Q8N8A2-2	.	N	482;659;642;642;642	ENSP00000403415:D482N;ENSP00000282272:D659N;ENSP00000331516:D642N;ENSP00000402420:D642N;ENSP00000338794:D642N	ENSP00000282272:D659N	D	-	1	0	ANKRD44	197581926	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.462000	0.80851	2.323000	0.78572	0.462000	0.41574	GAT	ANKRD44	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.458	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	ANKRD44	HGNC	protein_coding	OTTHUMT00000335113.1	C	NM_153697		197873681	-1	no_errors	ENST00000328737	ensembl	human	known	70_37	missense	SNP	1.000	T
ANO10	55129	genome.wustl.edu	37	3	43640123	43640123	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:43640123G>C	ENST00000292246.3	-	4	543	c.373C>G	c.(373-375)Caa>Gaa	p.Q125E	ANO10_ENST00000414522.2_Missense_Mutation_p.Q125E|ANO10_ENST00000396091.3_Missense_Mutation_p.Q59E|ANO10_ENST00000350459.4_Missense_Mutation_p.Q125E|ANO10_ENST00000451430.2_Intron	NM_018075.3	NP_060545.3	Q9NW15	ANO10_HUMAN	anoctamin 10	125					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell death (GO:0008219)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(3)|skin(3)	29						ATAATGAATTGACATTCTGCC	0.299																																																	0													113.0	107.0	109.0					3																	43640123		2202	4296	6498	SO:0001583	missense	55129			AL832508	CCDS2710.2, CCDS56247.1, CCDS56248.1, CCDS56249.1, CCDS56250.1	3p22.1-p21.33	2014-04-09	2008-08-28	2008-08-28	ENSG00000160746	ENSG00000160746		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	25519	protein-coding gene	gene with protein product		613726	"""transmembrane protein 16K"""	TMEM16K		12477932, 24692353	Standard	NM_001204831		Approved	FLJ10375, MGC47890, SCAR10	uc003cmv.3	Q9NW15	OTTHUMG00000133044	ENST00000292246.3:c.373C>G	3.37:g.43640123G>C	ENSP00000292246:p.Gln125Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8K3|A8MV74|B3KTZ1|B3KY93|B4DJ83|B4DNK2|B7WP12|C9JHS1|Q8IXX9	Missense_Mutation	SNP	pfam_Anoctamin	p.Q125E	ENST00000292246.3	37	c.373	CCDS2710.2	3	.	.	.	.	.	.	.	.	.	.	G	24.9	4.583129	0.86748	.	.	ENSG00000160746	ENST00000292246;ENST00000350459;ENST00000396091;ENST00000414522;ENST00000427171;ENST00000444344;ENST00000456438;ENST00000413397;ENST00000439141	T;T;T;T;T;D;D;D	0.85629	0.18;-0.87;0.25;0.2;2.01;-2.01;-2.01;-2.01	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	D	0.92051	0.7481	M	0.81112	2.525	0.80722	D	1	D;D;D;D	0.76494	0.995;0.99;0.999;0.995	D;D;D;D	0.78314	0.953;0.979;0.991;0.953	D	0.87977	0.2740	10	0.10377	T	0.69	.	20.2191	0.98319	0.0:0.0:1.0:0.0	.	125;125;59;125	C9JHS1;Q9NW15-2;Q9NW15-3;Q9NW15	.;.;.;ANO10_HUMAN	E	125;125;59;125;125;125;125;125;125	ENSP00000292246:Q125E;ENSP00000327767:Q125E;ENSP00000379398:Q59E;ENSP00000396990:Q125E;ENSP00000406432:Q125E;ENSP00000402845:Q125E;ENSP00000399103:Q125E;ENSP00000397360:Q125E	ENSP00000292246:Q125E	Q	-	1	0	ANO10	43615127	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.655000	0.91098	2.780000	0.95670	0.655000	0.94253	CAA	ANO10	-	NULL		0.299	ANO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO10	HGNC	protein_coding	OTTHUMT00000256649.2	G	NM_018075		43640123	-1	no_errors	ENST00000292246	ensembl	human	known	70_37	missense	SNP	1.000	C
ANO7	50636	genome.wustl.edu	37	2	242149031	242149031	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:242149031C>T	ENST00000274979.8	+	13	1605	c.1502C>T	c.(1501-1503)tCt>tTt	p.S501F	ANO7_ENST00000402430.3_Missense_Mutation_p.S500F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	501					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|calcium activated phosphatidylserine scrambling (GO:0061589)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)|phospholipid scramblase activity (GO:0017128)			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTGGCCGGCTCTGTGGTGATC	0.662																																																	0													53.0	56.0	55.0					2																	242149031		2203	4300	6503	SO:0001583	missense	50636			AY617079	CCDS33423.1, CCDS46563.1	2q37.3	2014-04-09	2008-08-28	2008-08-28	ENSG00000146205	ENSG00000146205		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	31677	protein-coding gene	gene with protein product		605096	"""transmembrane protein 16G"""	PCANAP5, TMEM16G		14981236, 15375614, 24692353	Standard	NM_001001891		Approved	NGEP, PCANAP5L, IPCA-5	uc002wax.2	Q6IWH7	OTTHUMG00000151702	ENST00000274979.8:c.1502C>T	2.37:g.242149031C>T	ENSP00000274979:p.Ser501Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IWH6	Missense_Mutation	SNP	pfam_Anoctamin	p.S501F	ENST00000274979.8	37	c.1502	CCDS33423.1	2	.	.	.	.	.	.	.	.	.	.	C	0.018	-1.469208	0.01053	.	.	ENSG00000146205	ENST00000274979;ENST00000402430	T;T	0.62232	0.04;0.04	3.09	3.09	0.35607	.	0.859005	0.10297	N	0.691633	T	0.47746	0.1462	N	0.25825	0.765	0.32171	N	0.581579	B	0.13594	0.008	B	0.17433	0.018	T	0.43845	-0.9366	10	0.09843	T	0.71	.	13.3125	0.60388	0.0:1.0:0.0:0.0	.	501	Q6IWH7	ANO7_HUMAN	F	501;500	ENSP00000274979:S501F;ENSP00000385418:S500F	ENSP00000274979:S501F	S	+	2	0	ANO7	241797704	0.242000	0.23868	0.203000	0.23512	0.027000	0.11550	0.611000	0.24268	1.455000	0.47813	0.306000	0.20318	TCT	ANO7	-	pfam_Anoctamin		0.662	ANO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO7	HGNC	protein_coding	OTTHUMT00000323509.1	C	NM_001001891		242149031	+1	no_errors	ENST00000274979	ensembl	human	known	70_37	missense	SNP	1.000	T
AP2M1	1173	genome.wustl.edu	37	3	183899781	183899781	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:183899781C>G	ENST00000292807.5	+	9	1057	c.909C>G	c.(907-909)gtC>gtG	p.V303V	EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000382456.3_Silent_p.V301V|AP2M1_ENST00000411763.2_Silent_p.V328V|AP2M1_ENST00000461733.1_3'UTR|AP2M1_ENST00000439647.1_Silent_p.V301V	NM_004068.3	NP_004059.2	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	303	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of protein localization to plasma membrane (GO:1903077)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AACTGGAGGTCAAGGTGGTCA	0.537																																																	0													57.0	57.0	57.0					3																	183899781		2026	4182	6208	SO:0001819	synonymous_variant	1173			U36188	CCDS43177.1, CCDS43178.1	3q28	2008-07-18			ENSG00000161203	ENSG00000161203			564	protein-coding gene	gene with protein product	"""clathrin-associated/assembly/adaptor protein, medium 1"", ""plasma membrane adaptor AP-2 50kDA protein"", ""clathrin coat adaptor protein AP50"", ""clathrin adaptor complex AP2, mu subunit"", ""HA2 50 kDA subunit"", ""clathrin assembly protein complex 2 medium chain"", ""AP-2 mu 2 chain"""	601024		CLAPM1		8595912	Standard	NM_004068		Approved	AP50, mu2	uc003fmw.3	Q96CW1	OTTHUMG00000156822	ENST00000292807.5:c.909C>G	3.37:g.183899781C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE12|D3DNT1|P20172|P53679	Silent	SNP	pfam_Clathrin_mu_C,pfam_AP_mu_sigma_su,superfamily_Clathrin_mu_C,superfamily_Longin-like_dom,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C,prints_Clathrin_mu	p.V303	ENST00000292807.5	37	c.909	CCDS43177.1	3																																																																																			AP2M1	-	pfam_Clathrin_mu_C,superfamily_Clathrin_mu_C,pirsf_Clathrin_mu,pfscan_Clathrin_mu_C		0.537	AP2M1-003	KNOWN	basic|CCDS	protein_coding	AP2M1	HGNC	protein_coding	OTTHUMT00000346013.1	C	NM_004068		183899781	+1	no_errors	ENST00000292807	ensembl	human	known	70_37	silent	SNP	0.999	G
APOBR	55911	genome.wustl.edu	37	16	28508263	28508263	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:28508263G>C	ENST00000431282.1	+	3	1884	c.1874G>C	c.(1873-1875)aGa>aCa	p.R625T	APOBR_ENST00000564831.1_Missense_Mutation_p.R634T|CLN3_ENST00000567160.1_5'Flank|APOBR_ENST00000328423.5_Missense_Mutation_p.R625T|CLN3_ENST00000569430.1_5'Flank			Q0VD83	APOBR_HUMAN	apolipoprotein B receptor	625	Glu-rich.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|triglyceride metabolic process (GO:0006641)	chylomicron (GO:0042627)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|skin(2)|stomach(1)	29						GACATGGAGAGAGGAAATACT	0.652																																																	0													12.0	14.0	13.0					16																	28508263		2056	4195	6251	SO:0001583	missense	55911			AK025123	CCDS58442.1	16p11.2	2011-02-14			ENSG00000184730	ENSG00000184730			24087	protein-coding gene	gene with protein product	"""apolipoprotein B48 receptor"", ""apolipoprotein B100 receptor"""	605220				10852956	Standard	NM_018690		Approved	APOB48R, APOB100R	uc002dqb.2	Q0VD83		ENST00000431282.1:c.1874G>C	16.37:g.28508263G>C	ENSP00000416094:p.Arg625Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	H3BU97|Q0VD81|Q8NC15|Q9NPJ9	Missense_Mutation	SNP	NULL	p.R634T	ENST00000431282.1	37	c.1901		16	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837520	0.32513	.	.	ENSG00000184730	ENST00000328423;ENST00000431282	T;T	0.53640	0.61;0.63	4.65	3.68	0.42216	.	.	.	.	.	T	0.36026	0.0952	L	0.32530	0.975	0.09310	N	1	P;B	0.37101	0.582;0.324	B;B	0.34722	0.133;0.188	T	0.08638	-1.0712	9	0.25751	T	0.34	0.1254	12.918	0.58216	0.0:0.1646:0.8354:0.0	.	625;625	Q0VD83;Q9NS13	APOBR_HUMAN;.	T	625	ENSP00000327669:R625T;ENSP00000416094:R625T	ENSP00000327669:R625T	R	+	2	0	APOBR	28415764	0.000000	0.05858	0.006000	0.13384	0.062000	0.15995	0.167000	0.16602	1.056000	0.40484	0.537000	0.68136	AGA	APOBR	-	NULL		0.652	APOBR-202	KNOWN	basic|appris_candidate	protein_coding	APOBR	HGNC	protein_coding		G	NM_182804		28508263	+1	no_errors	ENST00000564831	ensembl	human	known	70_37	missense	SNP	0.224	C
APOL3	80833	genome.wustl.edu	37	22	36556828	36556828	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:36556828G>C	ENST00000349314.2	-	1	149	c.112C>G	c.(112-114)Cag>Gag	p.Q38E	APOL3_ENST00000397287.2_5'UTR|APOL3_ENST00000361710.2_5'UTR|APOL3_ENST00000424878.2_Intron|APOL3_ENST00000397293.2_5'UTR	NM_145640.2	NP_663615.1	O95236	APOL3_HUMAN	apolipoprotein L, 3	38					inflammatory response (GO:0006954)|lipoprotein metabolic process (GO:0042157)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	lipid binding (GO:0008289)|lipid transporter activity (GO:0005319)|signal transducer activity (GO:0004871)			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCCAGGCTCTGAGATATACCC	0.512																																																	0													129.0	106.0	114.0					22																	36556828		2203	4300	6503	SO:0001583	missense	80833			AF305227	CCDS13922.1, CCDS13924.1	22q13.1	2013-01-24			ENSG00000128284	ENSG00000128284		"""Apolipoproteins"""	14868	protein-coding gene	gene with protein product		607253				11374903	Standard	NM_145640		Approved	CG12-1, APOLIII	uc003aot.3	O95236	OTTHUMG00000150632	ENST00000349314.2:c.112C>G	22.37:g.36556828G>C	ENSP00000344577:p.Gln38Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHI4|B1AHI5|Q5U5N4|Q9BQ82|Q9BQA3	Missense_Mutation	SNP	pfam_ApoL	p.Q38E	ENST00000349314.2	37	c.112	CCDS13922.1	22	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.149202	0.00328	.	.	ENSG00000128284	ENST00000349314;ENST00000531095	T;T	0.60920	3.72;0.15	0.971	-1.94	0.07571	.	7739.210000	0.00166	N	0.000000	T	0.32912	0.0845	N	0.08118	0	0.09310	N	0.999998	B	0.25169	0.119	B	0.12837	0.008	T	0.07347	-1.0777	10	0.48119	T	0.1	.	0.48	0.00546	0.3911:0.2324:0.2004:0.1761	.	38	O95236	APOL3_HUMAN	E	38;2	ENSP00000344577:Q38E;ENSP00000432271:Q2E	ENSP00000344577:Q38E	Q	-	1	0	APOL3	34886774	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.958000	0.01519	-2.662000	0.00418	-2.264000	0.00278	CAG	APOL3	-	NULL		0.512	APOL3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	APOL3	HGNC	protein_coding	OTTHUMT00000319268.1	G	NM_145641		36556828	-1	no_errors	ENST00000349314	ensembl	human	known	70_37	missense	SNP	0.000	C
AR	367	genome.wustl.edu	37	X	66863102	66863102	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:66863102G>C	ENST00000374690.3	+	2	2145	c.1621G>C	c.(1621-1623)Gag>Cag	p.E541Q	AR_ENST00000504326.1_Missense_Mutation_p.E541Q|AR_ENST00000396043.2_Missense_Mutation_p.E9Q|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.E541Q	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	540	Modulating.				androgen receptor signaling pathway (GO:0030521)|cell death (GO:0008219)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of integrin biosynthetic process (GO:0045720)|positive regulation of cell proliferation (GO:0008284)|positive regulation of integrin biosynthetic process (GO:0045726)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland development (GO:0030850)|protein oligomerization (GO:0051259)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|sex differentiation (GO:0007548)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transport (GO:0006810)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	androgen binding (GO:0005497)|androgen receptor activity (GO:0004882)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein dimerization activity (GO:0046983)|receptor binding (GO:0005102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone acetate(DB04839)|Danazol(DB01406)|Drospirenone(DB01395)|Drostanolone(DB00858)|Enzalutamide(DB08899)|Fludrocortisone(DB00687)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Ketoconazole(DB01026)|Levonorgestrel(DB00367)|Methyltestosterone(DB06710)|Nandrolone decanoate(DB08804)|Nandrolone phenpropionate(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Spironolactone(DB00421)|Testosterone Propionate(DB01420)|Testosterone(DB00624)	TTCCAGTTTGGAGACTGCCAG	0.468									Androgen Insensitivity Syndrome																																								0													168.0	138.0	148.0					X																	66863102		2203	4300	6503	SO:0001583	missense	367	Familial Cancer Database	CAIS, Testicular Feminisation, AIS, Morris syndrome; incl. Reifenstein Syndrome	M20132	CCDS14387.1, CCDS43965.1	Xq12	2013-01-16	2008-08-07		ENSG00000169083	ENSG00000169083		"""Nuclear hormone receptors"""	644	protein-coding gene	gene with protein product	"""testicular feminization"", ""Kennedy disease"""	313700	"""dihydrotestosterone receptor"", ""spinal and bulbar muscular atrophy"""	DHTR, SBMA		3353726, 3377788	Standard	NM_000044		Approved	AIS, NR3C4, SMAX1, HUMARA	uc004dwu.2	P10275	OTTHUMG00000021740	ENST00000374690.3:c.1621G>C	X.37:g.66863102G>C	ENSP00000363822:p.Glu541Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUN2|B1AKD7|Q9UD95	Missense_Mutation	SNP	pfam_Andrgn_rcpt,pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Andrgn_rcpt,prints_Znf_hrmn_rcpt	p.E541Q	ENST00000374690.3	37	c.1621	CCDS14387.1	X	.	.	.	.	.	.	.	.	.	.	G	18.01	3.528092	0.64860	.	.	ENSG00000169083	ENST00000544984;ENST00000374690;ENST00000504326;ENST00000396044;ENST00000396043	D;D;D;D	0.91945	-2.28;-2.94;-2.37;-2.17	5.37	5.37	0.77165	.	0.215165	0.47852	D	0.000207	D	0.90823	0.7118	L	0.47716	1.5	0.47905	D	0.999548	P;P;P;B	0.45634	0.751;0.849;0.863;0.045	B;B;P;B	0.45276	0.309;0.309;0.475;0.034	D	0.91903	0.5533	10	0.72032	D	0.01	.	15.4234	0.75031	0.0:0.0:1.0:0.0	.	541;541;9;540	E7EVX6;D3YPQ2;F1D8N5;P10275	.;.;.;ANDR_HUMAN	Q	351;541;541;541;9	ENSP00000363822:E541Q;ENSP00000421155:E541Q;ENSP00000379359:E541Q;ENSP00000379358:E9Q	ENSP00000363822:E541Q	E	+	1	0	AR	66779827	1.000000	0.71417	0.996000	0.52242	0.874000	0.50279	7.093000	0.76937	2.234000	0.73211	0.523000	0.50628	GAG	AR	-	NULL		0.468	AR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AR	HGNC	protein_coding	OTTHUMT00000057007.1	G	NM_000044		66863102	+1	no_errors	ENST00000374690	ensembl	human	known	70_37	missense	SNP	1.000	C
ARFGEF2	10564	genome.wustl.edu	37	20	47569353	47569353	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:47569353C>T	ENST00000371917.4	+	5	535	c.535C>T	c.(535-537)Caa>Taa	p.Q179*		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	179	DCB; DCB:DCB domain and DCB:HUS domain interaction.				endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TCTCATCAATCAAACCACTGC	0.458																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													137.0	122.0	127.0					20																	47569353		2203	4300	6503	SO:0001587	stop_gained	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.535C>T	20.37:g.47569353C>T	ENSP00000360985:p.Gln179*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TFT9|Q9NTS1	Nonsense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.Q179*	ENST00000371917.4	37	c.535	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	C	37	6.127992	0.97305	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	.	.	.	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	20.6208	0.99490	0.0:1.0:0.0:0.0	.	.	.	.	X	179	.	ENSP00000360985:Q179X	Q	+	1	0	ARFGEF2	47002760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.809000	0.86057	2.882000	0.98803	0.655000	0.94253	CAA	ARFGEF2	-	superfamily_ARM-type_fold		0.458	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	C	NM_006420		47569353	+1	no_errors	ENST00000371917	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ARFIP2	23647	genome.wustl.edu	37	11	6500102	6500102	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:6500102C>G	ENST00000254584.2	-	5	486	c.403G>C	c.(403-405)Gag>Cag	p.E135Q	TIMM10B_ENST00000530751.1_5'Flank|ARFIP2_ENST00000423813.2_Missense_Mutation_p.E97Q|TIMM10B_ENST00000254616.6_5'Flank|ARFIP2_ENST00000396777.3_Missense_Mutation_p.E135Q|TIMM10B_ENST00000472836.1_5'Flank|ARFIP2_ENST00000445086.2_Missense_Mutation_p.E50Q|ARFIP2_ENST00000525235.1_Missense_Mutation_p.E135Q	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	135	AH. {ECO:0000255|PROSITE- ProRule:PRU00294}.				actin cytoskeleton organization (GO:0030036)|cellular component movement (GO:0006928)|lamellipodium assembly (GO:0030032)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTP-dependent protein binding (GO:0030742)|Rac GTPase binding (GO:0048365)			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGCTTCGTCTCACGCAGCAAC	0.557																																					Melanoma(119;796 1674 9049 20480 24794)												0													91.0	65.0	74.0					11																	6500102		2201	4296	6497	SO:0001583	missense	23647			BC000392	CCDS7765.1, CCDS55739.1, CCDS55740.1, CCDS73250.1	11p15	2008-08-01	2008-08-01		ENSG00000132254	ENSG00000132254			17160	protein-coding gene	gene with protein product	"""arfaptin 2"""	601638				8670882, 9038142	Standard	NM_012402		Approved	POR1	uc010ran.2	P53365	OTTHUMG00000133406	ENST00000254584.2:c.403G>C	11.37:g.6500102C>G	ENSP00000254584:p.Glu135Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX86|B4E306|D3DQT5	Missense_Mutation	SNP	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom	p.E135Q	ENST00000254584.2	37	c.403	CCDS7765.1	11	.	.	.	.	.	.	.	.	.	.	C	20.2	3.952820	0.73787	.	.	ENSG00000132254	ENST00000254584;ENST00000396777;ENST00000445086;ENST00000423813;ENST00000525235	T;T;T;T;T	0.78246	-1.16;-1.16;-1.16;-1.16;-1.16	5.85	4.93	0.64822	Arfaptin-like (3);	0.141849	0.64402	D	0.000006	T	0.77301	0.4110	L	0.43923	1.385	0.80722	D	1	P;P;P	0.51933	0.784;0.933;0.949	B;P;B	0.48873	0.331;0.593;0.344	T	0.77978	-0.2384	10	0.45353	T	0.12	.	16.023	0.80512	0.1358:0.8642:0.0:0.0	.	168;50;135	B4DUZ3;B4E306;P53365	.;.;ARFP2_HUMAN	Q	135;135;50;97;135	ENSP00000254584:E135Q;ENSP00000379998:E135Q;ENSP00000391427:E50Q;ENSP00000398375:E97Q;ENSP00000434124:E135Q	ENSP00000254584:E135Q	E	-	1	0	ARFIP2	6456678	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.796000	0.85898	1.473000	0.48159	0.491000	0.48974	GAG	ARFIP2	-	pfam_Arfaptin_homology_dom,pfscan_Arfaptin_homology_dom		0.557	ARFIP2-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARFIP2	HGNC	protein_coding	OTTHUMT00000387044.1	C	NM_012402		6500102	-1	no_errors	ENST00000254584	ensembl	human	known	70_37	missense	SNP	1.000	G
SNORD118	727676	genome.wustl.edu	37	15	30936861	30936861	+	RNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:30936861C>T	ENST00000516793.1	+	0	128																											CAACCACCATCGGTTAAATTT	0.313																																																	0																																												89839																															15.37:g.30936861C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000516793.1	37	NULL		15																																																																																			ARHGAP11B	-	-		0.313	U8.25-201	NOVEL	basic	snoRNA	ARHGAP11B	HGNC	snoRNA		C			30936861	+1	no_errors	ENST00000564902	ensembl	human	putative	70_37	rna	SNP	0.172	T
ARHGAP27	201176	genome.wustl.edu	37	17	43474289	43474289	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:43474289C>T	ENST00000428638.1	-	11	1943	c.1944G>A	c.(1942-1944)ccG>ccA	p.P648P	ARHGAP27_ENST00000376922.2_Silent_p.P307P|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000442348.1_Silent_p.P621P|ARHGAP27_ENST00000532038.1_Silent_p.P426P|ARHGAP27_ENST00000455881.1_Silent_p.P307P|ARHGAP27_ENST00000532891.2_Silent_p.P626P|ARHGAP27_ENST00000528384.1_Silent_p.P280P|CTB-39G8.3_ENST00000592389.1_RNA			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	648					positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CACCTGCATTCGGTCGCGCGT	0.692																																																	0													64.0	57.0	59.0					17																	43474289		2203	4300	6503	SO:0001819	synonymous_variant	201176			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.1944G>A	17.37:g.43474289C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.P648	ENST00000428638.1	37	c.1944		17																																																																																			ARHGAP27	-	NULL		0.692	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		C	NM_199282		43474289	-1	no_errors	ENST00000428638	ensembl	human	known	70_37	silent	SNP	0.000	T
ARHGAP36	158763	genome.wustl.edu	37	X	130219941	130219941	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:130219941C>T	ENST00000276211.5	+	9	1504	c.1159C>T	c.(1159-1161)Ctc>Ttc	p.L387F	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.L375F|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.L251F	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	387	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGGATCTGCTCTCCTGAAAAA	0.473																																																	0													243.0	229.0	234.0					X																	130219941		2203	4300	6503	SO:0001583	missense	158763				CCDS14628.1, CCDS65320.1	Xq26.1	2011-06-29			ENSG00000147256	ENSG00000147256		"""Rho GTPase activating proteins"""	26388	protein-coding gene	gene with protein product							Standard	NM_144967		Approved	FLJ30058	uc004evz.3	Q6ZRI8	OTTHUMG00000022402	ENST00000276211.5:c.1159C>T	X.37:g.130219941C>T	ENSP00000276211:p.Leu387Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z234|B7Z439|Q5JRL9|Q5JRM0|Q5JRM1|Q96NU6	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L387F	ENST00000276211.5	37	c.1159	CCDS14628.1	X	.	.	.	.	.	.	.	.	.	.	C	13.41	2.227640	0.39399	.	.	ENSG00000147256	ENST00000276211;ENST00000370922;ENST00000412432;ENST00000370921	T;T;T;T	0.61392	0.11;0.11;0.11;0.11	4.71	3.8	0.43715	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.39985	N	0.001201	T	0.69287	0.3094	M	0.85197	2.74	0.49582	D	0.999803	D;D;P	0.57257	0.979;0.979;0.922	P;P;P	0.54270	0.747;0.747;0.742	T	0.74607	-0.3609	10	0.87932	D	0	.	9.162	0.37028	0.215:0.785:0.0:0.0	.	356;375;387	Q6ZRI8-2;Q6ZRI8-4;Q6ZRI8	.;.;RHG36_HUMAN	F	387;375;356;251	ENSP00000276211:L387F;ENSP00000359960:L375F;ENSP00000408515:L356F;ENSP00000359959:L251F	ENSP00000276211:L387F	L	+	1	0	ARHGAP36	130047622	1.000000	0.71417	0.995000	0.50966	0.371000	0.29859	1.466000	0.35310	2.170000	0.68504	0.529000	0.55759	CTC	ARHGAP36	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.473	ARHGAP36-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP36	HGNC	protein_coding	OTTHUMT00000355073.1	C	NM_144967		130219941	+1	no_errors	ENST00000276211	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGAP6	395	genome.wustl.edu	37	X	11156998	11156998	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:11156998G>A	ENST00000337414.4	-	13	3782	c.2910C>T	c.(2908-2910)ccC>ccT	p.P970P	ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000303025.6_Silent_p.P767P|ARHGAP6_ENST00000380736.1_Silent_p.P767P	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	970					actin filament polymerization (GO:0030041)|activation of phospholipase C activity (GO:0007202)|focal adhesion assembly (GO:0048041)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of stress fiber assembly (GO:0051497)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of signal transduction (GO:0009967)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCAGCGTCTCGGGCAGGGCAT	0.731																																																	0													6.0	6.0	6.0					X																	11156998		2109	4138	6247	SO:0001819	synonymous_variant	395			AF012272	CCDS14140.1, CCDS14141.1, CCDS14142.1	Xp22.3	2008-02-05			ENSG00000047648	ENSG00000047648		"""Rho GTPase activating proteins"""	676	protein-coding gene	gene with protein product		300118				9417914	Standard	XM_005274507		Approved	rhoGAPX-1	uc004cup.1	O43182	OTTHUMG00000021134	ENST00000337414.4:c.2910C>T	X.37:g.11156998G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWQ0|O43437|Q9P1B3|Q9UK81|Q9UK82	Silent	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.P970	ENST00000337414.4	37	c.2910	CCDS14140.1	X																																																																																			ARHGAP6	-	NULL		0.731	ARHGAP6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP6	HGNC	protein_coding	OTTHUMT00000055760.2	G	NM_013427		11156998	-1	no_errors	ENST00000337414	ensembl	human	known	70_37	silent	SNP	0.072	A
ARHGAP4	393	genome.wustl.edu	37	X	153186187	153186187	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153186187C>A	ENST00000350060.5	-	5	615	c.574G>T	c.(574-576)Gag>Tag	p.E192*	ARHGAP4_ENST00000370016.1_Nonsense_Mutation_p.E171*|ARHGAP4_ENST00000370028.3_Nonsense_Mutation_p.E192*|ARHGAP4_ENST00000393721.1_Intron|ARHGAP4_ENST00000537206.1_Nonsense_Mutation_p.E169*	NM_001666.4	NP_001657.3	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	192					apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|negative regulation of axon extension (GO:0030517)|negative regulation of fibroblast migration (GO:0010764)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of signal transduction (GO:0009967)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)	Rho GTPase activator activity (GO:0005100)|SH3/SH2 adaptor activity (GO:0005070)			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTCTCCTCCTGCCGCTCG	0.657																																																	0													50.0	47.0	48.0					X																	153186187		2203	4299	6502	SO:0001587	stop_gained	393			X78817	CCDS14736.1, CCDS55540.1	Xq28	2010-02-09			ENSG00000089820	ENSG00000089820		"""Rho GTPase activating proteins"""	674	protein-coding gene	gene with protein product	"""Rho-GAP hematopoietic protein C1"""	300023				8570618	Standard	NM_001666		Approved	KIAA0131, C1, p115, RhoGAP4, SrGAP4	uc004fjk.2	P98171	OTTHUMG00000024226	ENST00000350060.5:c.574G>T	X.37:g.153186187C>A	ENSP00000203786:p.Glu192*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14144|Q86UY3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.E192*	ENST00000350060.5	37	c.574	CCDS14736.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.801278|5.801278	0.96960|0.96960	.|.	.|.	ENSG00000089820|ENSG00000089820	ENST00000370028;ENST00000350060;ENST00000370016;ENST00000537206;ENST00000442262;ENST00000422091|ENST00000418750	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.000000|.	0.45361|.	D|.	0.000369|.	.|T	.|0.74786	.|0.3762	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.79538	.|-0.1762	.|4	0.44086|0.56958	T|D	0.13|0.05	.|.	16.5026|16.5026	0.84261|0.84261	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|V	192;192;171;169;169;169|39	.|.	ENSP00000203786:E192X|ENSP00000385042:G201V	E|G	-|-	1|2	0|0	ARHGAP4|ARHGAP4	152839381|152839381	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.888000|0.888000	0.51559|0.51559	7.430000|7.430000	0.80321|0.80321	2.355000|2.355000	0.79922|0.79922	0.529000|0.529000	0.55759|0.55759	GAG|GGA	ARHGAP4	-	NULL		0.657	ARHGAP4-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	ARHGAP4	HGNC	protein_coding	OTTHUMT00000061119.1	C	NM_001666		153186187	-1	no_errors	ENST00000350060	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ARHGEF7	8874	genome.wustl.edu	37	13	111935688	111935688	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:111935688C>T	ENST00000375741.2	+	17	2241	c.1991C>T	c.(1990-1992)tCa>tTa	p.S664L	ARHGEF7_ENST00000375739.2_Missense_Mutation_p.S614L|ARHGEF7_ENST00000426073.2_Missense_Mutation_p.S486L|ARHGEF7_ENST00000317133.5_Missense_Mutation_p.S643L|ARHGEF7_ENST00000370623.3_Missense_Mutation_p.S571L|ARHGEF7_ENST00000375736.4_Missense_Mutation_p.S486L|ARHGEF7_ENST00000478679.1_Missense_Mutation_p.S408L|ARHGEF7_ENST00000218789.5_Missense_Mutation_p.S486L|ARHGEF7_ENST00000375737.5_Missense_Mutation_p.S561L|ARHGEF7_ENST00000375723.1_Missense_Mutation_p.S486L	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	664					apoptotic signaling pathway (GO:0097190)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|hematopoietic progenitor cell differentiation (GO:0002244)|lamellipodium assembly (GO:0030032)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fibroblast migration (GO:0010763)|positive regulation of GTPase activity (GO:0043547)|positive regulation of lamellipodium morphogenesis (GO:2000394)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|protein complex (GO:0043234)	guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase binding (GO:0019901)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CTCCGGCCCTCAGCTGCTCTC	0.672																																																	0													22.0	22.0	22.0					13																	111935688		2157	4248	6405	SO:0001583	missense	8874			D63476	CCDS9521.1, CCDS32009.1, CCDS45068.1, CCDS45069.1	13q33.3	2013-01-10			ENSG00000102606	ENSG00000102606		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15607	protein-coding gene	gene with protein product	"""SH3 domain-containing proline-rich protein"", ""PAK-interacting exchange factor beta"", ""rho"", ""guanine nucleotide exchange factor 7"""	605477				9207241, 9726964	Standard	NM_003899		Approved	KIAA0142, PIXB, DKFZp761K1021, Nbla10314, DKFZp686C12170, BETA-PIX, COOL1, P85SPR, P85, P85COOL1, P50BP, PAK3, P50	uc001vrs.2	Q14155	OTTHUMG00000017357	ENST00000375741.2:c.1991C>T	13.37:g.111935688C>T	ENSP00000364893:p.Ser664Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALK6|B1ALK8|Q3LIA4|Q5W9H0|Q6P9G3|Q6PII2|Q86W63|Q8N3M1	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,pfam_CH-domain,superfamily_DH-domain,superfamily_CH-domain,superfamily_SH3_domain,smart_CH-domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain	p.S664L	ENST00000375741.2	37	c.1991	CCDS45068.1	13	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327754	0.81690	.	.	ENSG00000102606	ENST00000317133;ENST00000375741;ENST00000375739;ENST00000370623;ENST00000545635;ENST00000218789;ENST00000375736;ENST00000426073;ENST00000375737;ENST00000375723;ENST00000478679	T;T;T;T;T;T;T;T;T;T	0.64085	0.52;0.5;0.5;0.56;0.5;0.57;0.57;0.6;0.47;-0.08	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.73721	0.3623	L	0.52266	1.64	0.80722	D	1	D;P;D;D;D;D	0.89917	0.97;0.768;1.0;1.0;1.0;1.0	P;B;D;D;D;D	0.91635	0.824;0.347;0.982;0.998;0.999;0.999	T	0.70988	-0.4722	10	0.27082	T	0.32	.	17.3802	0.87402	0.0:1.0:0.0:0.0	.	408;561;486;614;664;643	E9PDQ5;B7Z6G2;Q14155-6;Q14155-2;Q14155;Q14155-3	.;.;.;.;ARHG7_HUMAN;.	L	643;664;614;571;641;486;486;486;561;486;408	ENSP00000325994:S643L;ENSP00000364893:S664L;ENSP00000364891:S614L;ENSP00000359657:S571L;ENSP00000218789:S486L;ENSP00000364888:S486L;ENSP00000397068:S486L;ENSP00000364889:S561L;ENSP00000364875:S486L;ENSP00000417596:S408L	ENSP00000218789:S486L	S	+	2	0	ARHGEF7	110733689	1.000000	0.71417	0.634000	0.29324	0.896000	0.52359	7.382000	0.79729	2.101000	0.63845	0.561000	0.74099	TCA	ARHGEF7	-	NULL		0.672	ARHGEF7-204	KNOWN	basic|CCDS	protein_coding	ARHGEF7	HGNC	protein_coding		C	NM_001113511		111935688	+1	no_errors	ENST00000375741	ensembl	human	known	70_37	missense	SNP	1.000	T
ARID2	196528	genome.wustl.edu	37	12	46300166	46300166	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:46300166C>T	ENST00000334344.6	+	0	6985				ARID2_ENST00000444670.1_3'UTR|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)						chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ATTGCCTGTTCTATTAGCATC	0.393			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0																																										SO:0001624	3_prime_UTR_variant	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.*1305C>T	12.37:g.46300166C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	RNA	SNP	-	NULL	ENST00000334344.6	37	NULL	CCDS31783.1	12																																																																																			ARID2	-	-		0.393	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	C	XM_350875		46300166	+1	no_errors	ENST00000479608	ensembl	human	known	70_37	rna	SNP	1.000	T
ARID4B	51742	genome.wustl.edu	37	1	235338556	235338556	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:235338556C>G	ENST00000264183.3	-	22	4104	c.3607G>C	c.(3607-3609)Gat>Cat	p.D1203H	ARID4B_ENST00000494543.1_5'Flank|ARID4B_ENST00000349213.3_Missense_Mutation_p.D1117H|ARID4B_ENST00000366603.2_Missense_Mutation_p.D1203H	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1203					histone H3-K9 trimethylation (GO:0036124)|histone H4-K20 trimethylation (GO:0034773)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCCTTGAGATCAGGATCCTTA	0.398																																																	0													174.0	172.0	173.0					1																	235338556		2203	4300	6503	SO:0001583	missense	51742			AF214114	CCDS31060.1, CCDS31061.1	1q42.1-q43	2013-02-07	2006-11-08	2004-01-30	ENSG00000054267	ENSG00000054267		"""-"""	15550	protein-coding gene	gene with protein product		609696	"""retinoblastoma binding protein 1-like 1"", ""AT rich interactive domain 4B (RBP1- like)"""	RBP1L1		11481388	Standard	NM_016374		Approved	BCAA, BRCAA1, SAP180	uc001hwq.3	Q4LE39	OTTHUMG00000039621	ENST00000264183.3:c.3607G>C	1.37:g.235338556C>G	ENSP00000264183:p.Asp1203His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L465|Q3MHV4|Q5HY99|Q5T2C2|Q5T2C3|Q5T2C4|Q5T2C5|Q5T2C6|Q6P600|Q86UX1|Q86WR4|Q9H915|Q9NYU3|Q9NZB6|Q9NZG4|Q9P2W4|Q9UF62|Q9Y6E1	Missense_Mutation	SNP	pfam_RBB1NT,pfam_ARID/BRIGHT_DNA-bd,pfam_Tudor-knot,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Chromodomain-like,smart_Tudor,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.D1203H	ENST00000264183.3	37	c.3607	CCDS31061.1	1	.	.	.	.	.	.	.	.	.	.	C	14.35	2.510232	0.44660	.	.	ENSG00000054267	ENST00000349213;ENST00000366603;ENST00000264183	T;T;T	0.24350	1.86;1.86;1.86	5.32	5.32	0.75619	.	0.625007	0.17842	N	0.160153	T	0.31575	0.0801	N	0.15975	0.35	0.44261	D	0.997118	D;P	0.76494	0.999;0.61	D;B	0.73380	0.98;0.326	T	0.03807	-1.1002	10	0.20519	T	0.43	-15.1741	14.2319	0.65898	0.1492:0.8508:0.0:0.0	.	1117;1203	Q4LE39-2;Q4LE39	.;ARI4B_HUMAN	H	1117;1203;1203	ENSP00000264184:D1117H;ENSP00000355562:D1203H;ENSP00000264183:D1203H	ENSP00000264183:D1203H	D	-	1	0	ARID4B	233405179	0.109000	0.22037	0.983000	0.44433	0.963000	0.63663	1.014000	0.29950	2.651000	0.90000	0.650000	0.86243	GAT	ARID4B	-	NULL		0.398	ARID4B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID4B	HGNC	protein_coding	OTTHUMT00000095566.3	C	NM_016374		235338556	-1	no_errors	ENST00000264183	ensembl	human	known	70_37	missense	SNP	0.985	G
ARL11	115761	genome.wustl.edu	37	13	50204667	50204667	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:50204667C>T	ENST00000282026.1	+	2	419	c.84C>T	c.(82-84)ctC>ctT	p.L28L	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	28					hematopoietic progenitor cell differentiation (GO:0002244)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		AGACCACGCTCCTTTACAAGC	0.587																																																	0													63.0	65.0	64.0					13																	50204667		2203	4300	6503	SO:0001819	synonymous_variant	115761			AF441378	CCDS9419.1	13q14.12	2014-05-09			ENSG00000152213	ENSG00000152213		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	24046	protein-coding gene	gene with protein product		609351				12477932	Standard	NM_138450		Approved	ARLTS1, FLJ33930	uc001vdf.2	Q969Q4	OTTHUMG00000016919	ENST00000282026.1:c.84C>T	13.37:g.50204667C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom	p.L28	ENST00000282026.1	37	c.84	CCDS9419.1	13																																																																																			ARL11	-	pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,pfam_Small_GTPase,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.587	ARL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL11	HGNC	protein_coding	OTTHUMT00000044929.2	C	NM_138450		50204667	+1	no_errors	ENST00000282026	ensembl	human	known	70_37	silent	SNP	0.967	T
ARMC9	80210	genome.wustl.edu	37	2	232234713	232234713	+	3'UTR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:232234713G>C	ENST00000483477.1	+	0	2310							Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9							extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTGCACTCCAGAGATGCTGGA	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000483477.1:c.*2307G>C	2.37:g.232234713G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	RNA	SNP	-	NULL	ENST00000483477.1	37	NULL		2	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953924	0.34471	.	.	ENSG00000135931	ENST00000359743	.	.	.	4.8	4.8	0.61643	.	.	.	.	.	T	0.73241	0.3562	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76146	-0.3066	5	0.62326	D	0.03	.	13.7411	0.62849	0.0:0.0:1.0:0.0	.	.	.	.	Q	769	.	ENSP00000352781:E769Q	E	+	1	0	ARMC9	231942957	0.952000	0.32445	0.634000	0.29324	0.153000	0.21895	3.535000	0.53575	2.376000	0.81061	0.655000	0.94253	GAG	ARMC9	-	-		0.612	ARMC9-003	KNOWN	basic	processed_transcript	ARMC9	HGNC	protein_coding	OTTHUMT00000332953.2	G	NM_025139		232234713	+1	no_errors	ENST00000483477	ensembl	human	known	70_37	rna	SNP	0.881	C
ARMCX4	100131755	genome.wustl.edu	37	X	100749126	100749126	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:100749126G>A	ENST00000423738.3	+	2	5752	c.5550G>A	c.(5548-5550)ggG>ggA	p.G1850G		NM_001256155.1	NP_001243084.1	Q5H9R4	ARMX4_HUMAN	armadillo repeat containing, X-linked 4	196						integral component of membrane (GO:0016021)				lung(1)	1						ctggggctgggATTTGGTCCT	0.667																																																	0																																										SO:0001819	synonymous_variant	100131755			AK096955	CCDS59170.1	Xq22	2014-03-21	2009-11-26		ENSG00000196440	ENSG00000196440		"""Armadillo repeat containing"""	28615	protein-coding gene	gene with protein product			"""chromosome X open reading frame 35"", ""armadillo repeat containing, X-linked 4 pseudogene"""	CXorf35		16221301, 22569362	Standard	NR_028407		Approved	MGC40053, GASP4	uc031tkc.1	Q5H9R4	OTTHUMG00000022030	ENST00000423738.3:c.5550G>A	X.37:g.100749126G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K928|B3KXA4|Q5H9K8|Q8N8D6	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,pfscan_Armadillo	p.G1850	ENST00000423738.3	37	c.5550	CCDS59170.1	X																																																																																			ARMCX4	-	NULL		0.667	ARMCX4-010	PUTATIVE	upstream_ATG|upstream_uORF|basic|appris_principal|CCDS	protein_coding	ARMCX4	HGNC	protein_coding	OTTHUMT00000370455.2	G	NM_001256155		100749126	+1	no_errors	ENST00000423738	ensembl	human	putative	70_37	silent	SNP	0.004	A
ARMCX3	51566	genome.wustl.edu	37	X	100878842	100878842	+	5'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:100878842G>A	ENST00000341189.4	+	0	547				ARMCX3-AS1_ENST00000454228.1_RNA|ARMCX3_ENST00000471229.2_5'UTR|ARMCX3_ENST00000537169.1_5'UTR|ARMCX3_ENST00000477980.2_3'UTR	NM_016607.3	NP_057691.1	Q9UH62	ARMX3_HUMAN	armadillo repeat containing, X-linked 3						cellular protein localization (GO:0034613)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of mitochondrial outer membrane (GO:0031307)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11						GGCAAAAGAAGAGGAAGGAAT	0.587																																																	0																																										SO:0001623	5_prime_UTR_variant	51566			AY359079	CCDS14489.1	Xq22.1	2014-03-21			ENSG00000102401	ENSG00000102401		"""Armadillo repeat containing"""	24065	protein-coding gene	gene with protein product		300364				11162520, 11042152, 19304657, 16221301, 22569362	Standard	NM_016607		Approved	ALEX3, GASP6	uc004eia.1	Q9UH62	OTTHUMG00000022035	ENST00000341189.4:c.-320G>A	X.37:g.100878842G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HC6|Q7LCF5|Q9NPE4	RNA	SNP	-	NULL	ENST00000341189.4	37	NULL	CCDS14489.1	X																																																																																			ARMCX3	-	-		0.587	ARMCX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMCX3	HGNC	protein_coding	OTTHUMT00000057568.2	G	NM_016607		100878842	+1	no_errors	ENST00000467808	ensembl	human	known	70_37	rna	SNP	1.000	A
ARMCX2	9823	genome.wustl.edu	37	X	100910949	100910949	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:100910949C>T	ENST00000328766.5	-	5	2079	c.1626G>A	c.(1624-1626)ttG>ttA	p.L542L	ARMCX2_ENST00000356824.4_Silent_p.L542L|ARMCX2_ENST00000467416.1_5'Flank|ARMCX2_ENST00000330154.2_Silent_p.L542L	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	542						integral component of membrane (GO:0016021)				NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						GAAGTTTCTTCAACATATCTG	0.368																																																	0													66.0	67.0	67.0					X																	100910949		2201	4300	6501	SO:0001819	synonymous_variant	9823			AB011084	CCDS14490.1	Xq21.33-q22.2	2014-03-21			ENSG00000184867	ENSG00000184867		"""Armadillo repeat containing"""	16869	protein-coding gene	gene with protein product		300363				9628581, 11162520, 16221301, 22569362	Standard	XM_005278109		Approved	ALEX2, KIAA0512, GASP9	uc004eif.3	Q7L311	OTTHUMG00000022038	ENST00000328766.5:c.1626G>A	X.37:g.100910949C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60267|Q5H9D9	Silent	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold,smart_Armadillo	p.L542	ENST00000328766.5	37	c.1626	CCDS14490.1	X																																																																																			ARMCX2	-	pfam_ARM-rpt_dom,superfamily_ARM-type_fold		0.368	ARMCX2-011	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ARMCX2	HGNC	protein_coding	OTTHUMT00000057586.1	C	NM_014782		100910949	-1	no_errors	ENST00000328766	ensembl	human	known	70_37	silent	SNP	0.995	T
ARPP21	10777	genome.wustl.edu	37	3	35750512	35750512	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:35750512G>C	ENST00000187397.4	+	11	1303	c.847G>C	c.(847-849)Gag>Cag	p.E283Q	ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000417925.1_Intron|ARPP21_ENST00000458225.1_Intron|ARPP21_ENST00000444190.1_Intron	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	283	SUZ. {ECO:0000255|PROSITE- ProRule:PRU01009}.				cellular response to heat (GO:0034605)	cytoplasm (GO:0005737)	nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						ATCAATTGAAGAGAGAGAAGA	0.398																																																	0													161.0	159.0	160.0					3																	35750512		2203	4300	6503	SO:0001583	missense	10777			AA733082	CCDS2661.1, CCDS43063.1, CCDS58823.1, CCDS58824.1	3p24.3	2010-08-12			ENSG00000172995	ENSG00000172995			16968	protein-coding gene	gene with protein product	"""R3H domain containing 3"""	605488				8120638	Standard	NM_198399		Approved	ARPP-21, TARPP, R3HDM3	uc011axy.2	Q9UBL0	OTTHUMG00000130795	ENST00000187397.4:c.847G>C	3.37:g.35750512G>C	ENSP00000187397:p.Glu283Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG96|Q49AK3|Q49AS6|Q4G0V4|Q6NYC3|Q86V31|Q9UF93	Missense_Mutation	SNP	pfam_R3H_ss-bd,smart_R3H_ss-bd,pfscan_R3H_ss-bd	p.E283Q	ENST00000187397.4	37	c.847	CCDS2661.1	3	.	.	.	.	.	.	.	.	.	.	G	28.8	4.951560	0.92660	.	.	ENSG00000172995	ENST00000187397	T	0.68624	-0.34	6.03	6.03	0.97812	SUZ domain (1);	0.156129	0.40554	N	0.001071	D	0.83487	0.5265	M	0.78801	2.425	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82926	-0.0215	10	0.56958	D	0.05	.	20.62	0.99473	0.0:0.0:1.0:0.0	.	283	Q9UBL0	ARP21_HUMAN	Q	283	ENSP00000187397:E283Q	ENSP00000187397:E283Q	E	+	1	0	ARPP21	35725516	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.755000	0.91646	2.876000	0.98609	0.644000	0.83932	GAG	ARPP21	-	NULL		0.398	ARPP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARPP21	HGNC	protein_coding	OTTHUMT00000253334.2	G	NM_198399		35750512	+1	no_errors	ENST00000187397	ensembl	human	known	70_37	missense	SNP	1.000	C
ASAH1	427	genome.wustl.edu	37	8	17933080	17933080	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:17933080C>T	ENST00000262097.6	-	2	406	c.95G>A	c.(94-96)aGa>aAa	p.R32K	ASAH1_ENST00000520781.1_Missense_Mutation_p.R32K|ASAH1_ENST00000417108.2_5'UTR|ASAH1_ENST00000520051.1_5'UTR|ASAH1_ENST00000314146.10_Missense_Mutation_p.R48K|ASAH1_ENST00000381733.4_Missense_Mutation_p.R48K	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	32					cell death (GO:0008219)|ceramide metabolic process (GO:0006672)|glycosphingolipid metabolic process (GO:0006687)|lung development (GO:0030324)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|ceramidase activity (GO:0017040)			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		GGTTGATTTTCTGCAGTCCTC	0.353																																																	0													168.0	165.0	166.0					8																	17933080		2203	4300	6503	SO:0001583	missense	427			U70063	CCDS6005.1, CCDS6006.1, CCDS47813.1	8p22	2007-03-27	2002-09-11	2002-09-13	ENSG00000104763	ENSG00000104763			735	protein-coding gene	gene with protein product		613468	"""N-acylsphingosine amidohydrolase (acid ceramidase)"""	ASAH		8955159, 10610716	Standard	NM_004315		Approved	AC, PHP32, FLJ21558	uc003wyn.2	Q13510	OTTHUMG00000096997	ENST00000262097.6:c.95G>A	8.37:g.17933080C>T	ENSP00000262097:p.Arg32Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDS0|Q6W898|Q96AS2	Missense_Mutation	SNP	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.R48K	ENST00000262097.6	37	c.143	CCDS6006.1	8	.	.	.	.	.	.	.	.	.	.	.	13.17	2.157057	0.38119	.	.	ENSG00000104763	ENST00000262097;ENST00000381733;ENST00000520781;ENST00000314146	T;T;T;T	0.78707	-0.56;-0.41;-0.64;-1.2	5.06	4.18	0.49190	.	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	L	0.54323	1.7	0.80722	D	1	B;B;B;B	0.30482	0.206;0.281;0.101;0.045	B;B;B;B	0.26517	0.043;0.07;0.017;0.017	T	0.62613	-0.6817	10	0.18710	T	0.47	-1.831	9.4689	0.38831	0.0:0.9043:0.0:0.0957	.	48;48;32;32	E9PDS0;Q13510-2;E7EMM4;Q13510	.;.;.;ASAH1_HUMAN	K	32;48;32;48	ENSP00000262097:R32K;ENSP00000371152:R48K;ENSP00000427751:R32K;ENSP00000326970:R48K	ENSP00000262097:R32K	R	-	2	0	ASAH1	17977360	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.822000	0.55708	1.507000	0.48752	0.655000	0.94253	AGA	ASAH1	-	pirsf_Acid_ceramidase-like		0.353	ASAH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASAH1	HGNC	protein_coding	OTTHUMT00000214077.2	C	NM_004315		17933080	-1	no_errors	ENST00000381733	ensembl	human	known	70_37	missense	SNP	1.000	T
ASAH2C	653365	genome.wustl.edu	37	10	48007171	48007171	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:48007171C>T	ENST00000426610.2	-	16	1542	c.1543G>A	c.(1543-1545)Gaa>Aaa	p.E515K				P0C7U2	ASA2C_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2C	515					sphingolipid metabolic process (GO:0006665)		ceramidase activity (GO:0017040)			lung(3)	3						AATATAACTTCAGCAACTTCC	0.284																																																	0																																										SO:0001583	missense	653365					10q11.22	2013-01-14			ENSG00000072444				23457	other	unknown						17334805	Standard			Approved	bA98I6.3		P0C7U2	OTTHUMG00000018134	ENST00000426610.2:c.1543G>A	10.37:g.48007171C>T	ENSP00000399947:p.Glu515Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ceramidase_alk	p.E515K	ENST00000426610.2	37	c.1543		10	.	.	.	.	.	.	.	.	.	.	C	7.845	0.722803	0.15439	.	.	ENSG00000072444	ENST00000420079;ENST00000426610	T	0.40756	1.02	3.0	3.0	0.34707	.	0.141585	0.47093	U	0.000259	T	0.26376	0.0644	.	.	.	0.32610	N	0.524735	.	.	.	.	.	.	T	0.23154	-1.0196	7	0.12103	T	0.63	.	7.5607	0.27849	0.2551:0.7449:0.0:0.0	.	.	.	.	K	503;515	ENSP00000399947:E515K	ENSP00000392320:E503K	E	-	1	0	ASAH2C	47527177	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	1.348000	0.33987	1.968000	0.57251	0.531000	0.56144	GAA	ASAH2C	-	pfam_Ceramidase_alk		0.284	ASAH2C-201	KNOWN	basic|appris_principal	protein_coding	ASAH2C	HGNC	protein_coding		C	NG_012763		48007171	-1	no_errors	ENST00000426610	ensembl	human	known	70_37	missense	SNP	1.000	T
ASPM	259266	genome.wustl.edu	37	1	197098341	197098341	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:197098341G>A	ENST00000367409.4	-	9	2992	c.2736C>T	c.(2734-2736)ctC>ctT	p.L912L	ASPM_ENST00000367408.1_Silent_p.L162L|ASPM_ENST00000294732.7_Silent_p.L912L	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	912					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTACAGAAGAGACAAGGAT	0.318																																																	0													104.0	103.0	104.0					1																	197098341		2203	4297	6500	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.2736C>T	1.37:g.197098341G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.L912	ENST00000367409.4	37	c.2736	CCDS1389.1	1																																																																																			ASPM	-	superfamily_CH-domain		0.318	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	G	NM_018136		197098341	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	silent	SNP	1.000	A
ASXL2	55252	genome.wustl.edu	37	2	25972626	25972627	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:25972626_25972627delGA	ENST00000435504.4	-	12	2091_2092	c.1798_1799delTC	c.(1798-1800)tcafs	p.S600fs	ASXL2_ENST00000336112.4_Frame_Shift_Del_p.S572fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.S340fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.S340fs			Q76L83	ASXL2_HUMAN	additional sex combs like transcriptional regulator 2	600					adult heart development (GO:0007512)|embryonic skeletal system morphogenesis (GO:0048704)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of bone mineralization involved in bone maturation (GO:1900159)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of histone H3-K27 trimethylation (GO:1902466)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCTGTGGTGAGACCTGAAAT	0.52																																																	0																																										SO:0001589	frameshift_variant	55252					2p24.1	2014-06-17	2014-06-17		ENSG00000143970	ENSG00000143970			23805	protein-coding gene	gene with protein product		612991	"""additional sex combs like 2 (Drosophila)"""			12888926	Standard	NM_018263		Approved	ASXH2, FLJ10898, KIAA1685	uc002rgs.2	Q76L83	OTTHUMG00000152176	ENST00000435504.4:c.1798_1799delTC	2.37:g.25972628_25972629delGA	ENSP00000391447:p.Ser600fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TC9|Q5H9U4|Q76L81|Q86XM1|Q9C0H8|Q9NV67	Frame_Shift_Del	DEL	superfamily_Znf_FYVE_PHD	p.S600fs	ENST00000435504.4	37	c.1799_1798		2																																																																																			ASXL2	-	NULL		0.520	ASXL2-001	KNOWN	basic|appris_principal	protein_coding	ASXL2	HGNC	protein_coding	OTTHUMT00000325593.3	GA	NM_018263		25972627	-1	no_errors	ENST00000435504	ensembl	human	known	70_37	frame_shift_del	DEL	0.215:0.247	-
ATG13	9776	genome.wustl.edu	37	11	46691034	46691034	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:46691034G>A	ENST00000434074.1	+	16	2117	c.1428G>A	c.(1426-1428)ctG>ctA	p.L476L	ATG13_ENST00000526508.1_Silent_p.L476L|ATG13_ENST00000524625.1_Silent_p.L439L|ATG13_ENST00000528494.1_Silent_p.L509L|ATG13_ENST00000529655.1_Silent_p.L439L|ATG13_ENST00000359513.4_Silent_p.L476L|ATG13_ENST00000451945.1_Silent_p.L439L|ATG13_ENST00000312040.4_Silent_p.L476L|ATG13_ENST00000530500.1_Silent_p.L360L	NM_001205120.1	NP_001192049.1	O75143	ATG13_HUMAN	autophagy related 13	476					autophagic vacuole assembly (GO:0000045)	ATG1/UKL1 signaling complex (GO:0034273)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)|ULK1-ATG13-FIP200 complex (GO:0070969)	protein kinase binding (GO:0019901)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	15						CACCTCAGCTGAGCAGCCTCT	0.463																																																	0													115.0	108.0	110.0					11																	46691034		2201	4299	6500	SO:0001819	synonymous_variant	9776			AB014552	CCDS7921.1, CCDS44582.1, CCDS55760.1, CCDS55761.1	11p11.2	2014-02-12	2012-06-06	2010-06-29	ENSG00000175224	ENSG00000175224			29091	protein-coding gene	gene with protein product		615088	"""KIAA0652"", ""ATG13 autophagy related 13 homolog (S. cerevisiae)"""	KIAA0652		15169610, 18339812, 17204848	Standard	NM_001205120		Approved		uc001nda.3	O75143	OTTHUMG00000166538	ENST00000434074.1:c.1428G>A	11.37:g.46691034G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFI4|D3DQQ1|D3DQQ2|E9PQZ8|Q53EN6|Q9BRL3|Q9H8B0	Silent	SNP	pfam_Autophagy-rel_p13	p.L476	ENST00000434074.1	37	c.1428	CCDS44582.1	11																																																																																			ATG13	-	NULL		0.463	ATG13-202	KNOWN	basic|CCDS	protein_coding	ATG13	HGNC	protein_coding	OTTHUMT00000390300.2	G	NM_014741		46691034	+1	no_errors	ENST00000312040	ensembl	human	known	70_37	silent	SNP	0.983	A
ATG2A	23130	genome.wustl.edu	37	11	64669734	64669734	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64669734G>A	ENST00000377264.3	-	28	4014	c.3902C>T	c.(3901-3903)tCa>tTa	p.S1301L	ATG2A_ENST00000421419.2_Missense_Mutation_p.S1303L	NM_015104.2	NP_055919.2	Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1301					autophagic vacuole assembly (GO:0000045)|cellular response to nitrogen starvation (GO:0006995)|mitochondrion degradation (GO:0000422)|nucleophagy (GO:0044804)	extrinsic component of membrane (GO:0019898)|lipid particle (GO:0005811)|pre-autophagosomal structure (GO:0000407)				breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CACTTCACCTGAAGGCTGGGC	0.672																																																	0													27.0	29.0	28.0					11																	64669734		2201	4297	6498	SO:0001583	missense	23130				CCDS31602.1	11q13.1	2014-02-12	2012-06-06		ENSG00000110046	ENSG00000110046			29028	protein-coding gene	gene with protein product			"""ATG2 autophagy related 2 homolog A (S. cerevisiae)"""			21887408	Standard	NM_015104		Approved	KIAA0404	uc001obx.3	Q2TAZ0	OTTHUMG00000066831	ENST00000377264.3:c.3902C>T	11.37:g.64669734G>A	ENSP00000366475:p.Ser1301Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43154|Q14DM2|Q6ZTV2|Q7Z6K8|Q8IVY5|Q8TAI8|Q96HH7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.S1303L	ENST00000377264.3	37	c.3908	CCDS31602.1	11	.	.	.	.	.	.	.	.	.	.	G	13.98	2.398759	0.42512	.	.	ENSG00000110046	ENST00000421419;ENST00000377264	T;T	0.07327	3.21;3.2	4.01	4.01	0.46588	.	0.626506	0.13812	N	0.361080	T	0.06600	0.0169	N	0.16903	0.455	0.32857	D	0.507501	B;B	0.29552	0.16;0.248	B;B	0.32090	0.066;0.14	T	0.15896	-1.0421	10	0.35671	T	0.21	.	11.8522	0.52417	0.0:0.0:1.0:0.0	.	1301;1303	Q2TAZ0;Q2TAZ0-3	ATG2A_HUMAN;.	L	1303;1301	ENSP00000410522:S1303L;ENSP00000366475:S1301L	ENSP00000366475:S1301L	S	-	2	0	ATG2A	64426310	0.991000	0.36638	0.886000	0.34754	0.810000	0.45777	2.440000	0.44855	2.251000	0.74343	0.563000	0.77884	TCA	ATG2A	-	NULL		0.672	ATG2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATG2A	HGNC	protein_coding	OTTHUMT00000143224.1	G	NM_015104		64669734	-1	no_errors	ENST00000421419	ensembl	human	known	70_37	missense	SNP	0.960	A
ATOH8	84913	genome.wustl.edu	37	2	86014109	86014109	+	3'UTR	SNP	C	C	T	rs537499981		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:86014109C>T	ENST00000306279.3	+	0	1358					NM_032827.6	NP_116216.2	Q96SQ7	ATOH8_HUMAN	atonal homolog 8 (Drosophila)						cell differentiation (GO:0030154)|nervous system development (GO:0007399)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCGTGGTCTTCTCCAAGATGC	0.652													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16702	0.0		0.0	False		,,,				2504	0.0																0													24.0	28.0	27.0					2																	86014109		692	1591	2283	SO:0001624	3_prime_UTR_variant	84913			AK074681	CCDS1985.1	2p11.2	2013-05-21			ENSG00000168874	ENSG00000168874		"""Basic helix-loop-helix proteins"""	24126	protein-coding gene	gene with protein product	"""basic helix loop helix transcription factor 6"""					12419857	Standard	NM_032827		Approved	HATH6, FLJ14708, bHLHa21	uc002sqn.3	Q96SQ7	OTTHUMG00000130178	ENST00000306279.3:c.*96C>T	2.37:g.86014109C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q504S2|Q659B0	RNA	SNP	-	NULL	ENST00000306279.3	37	NULL	CCDS1985.1	2																																																																																			ATOH8	-	-		0.652	ATOH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATOH8	HGNC	protein_coding	OTTHUMT00000252496.1	C	NM_032827		86014109	+1	no_errors	ENST00000469442	ensembl	human	known	70_37	rna	SNP	0.546	T
ATP1A2	477	genome.wustl.edu	37	1	160093844	160093844	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:160093844C>A	ENST00000361216.3	+	5	582	c.493C>A	c.(493-495)Cag>Aag	p.Q165K	ATP1A2_ENST00000392233.3_Missense_Mutation_p.Q165K	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	165					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CATGGTACCTCAGGTAAGATG	0.527																																																	0													79.0	72.0	74.0					1																	160093844		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.493C>A	1.37:g.160093844C>A	ENSP00000354490:p.Gln165Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.Q165K	ENST00000361216.3	37	c.493	CCDS1196.1	1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550199	0.65311	.	.	ENSG00000018625	ENST00000538123;ENST00000361216;ENST00000392233	D;D	0.89939	-2.59;-2.59	4.56	4.56	0.56223	ATPase, P-type, ATPase-associated domain (1);ATPase,  P-type, cytoplasmic transduction domain A (1);	0.057994	0.64402	D	0.000001	D	0.82921	0.5142	L	0.58302	1.8	0.80722	D	1	B;B	0.09022	0.001;0.002	B;B	0.15484	0.005;0.013	T	0.82250	-0.0550	10	0.59425	D	0.04	.	16.2498	0.82475	0.0:1.0:0.0:0.0	.	10;165	B4DHD7;P50993	.;AT1A2_HUMAN	K	10;165;165	ENSP00000354490:Q165K;ENSP00000376066:Q165K	ENSP00000354490:Q165K	Q	+	1	0	ATP1A2	158360468	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.461000	0.80834	2.377000	0.81083	0.561000	0.74099	CAG	ATP1A2	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.527	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	C	NM_000702		160093844	+1	no_errors	ENST00000361216	ensembl	human	known	70_37	missense	SNP	1.000	A
ATP1A2	477	genome.wustl.edu	37	1	160106421	160106421	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:160106421C>G	ENST00000361216.3	+	19	2714	c.2625C>G	c.(2623-2625)ttC>ttG	p.F875L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.F875L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	875					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|cardiac muscle contraction (GO:0060048)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to mechanical stimulus (GO:0071260)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|locomotion (GO:0040011)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of heart contraction (GO:0045822)|negative regulation of striated muscle contraction (GO:0045988)|neurotransmitter uptake (GO:0001504)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of smooth muscle contraction (GO:0006940)|regulation of striated muscle contraction (GO:0006942)|regulation of the force of heart contraction (GO:0002026)|regulation of vasoconstriction (GO:0019229)|relaxation of cardiac muscle (GO:0055119)|response to nicotine (GO:0035094)|sodium ion export from cell (GO:0036376)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	caveola (GO:0005901)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|endosome (GO:0005768)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|T-tubule (GO:0030315)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			AGAACGGTTTCCTGCCATCAC	0.582																																																	0													112.0	98.0	103.0					1																	160106421		2203	4300	6503	SO:0001583	missense	477			AB018321	CCDS1196.1	1q23.2	2014-09-17	2010-04-20		ENSG00000018625	ENSG00000018625	3.6.3.9	"""ATPases / P-type"""	800	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-2"", ""sodium pump subunit alpha-2"", ""sodium-potassium ATPase catalytic subunit alpha-2"""	182340	"""migraine, hemiplegic 2"", ""ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide"""	MHP2		9403481	Standard	NM_000702		Approved	FHM2	uc001fvc.3	P50993	OTTHUMG00000024080	ENST00000361216.3:c.2625C>G	1.37:g.160106421C>G	ENSP00000354490:p.Phe875Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVE4|Q07059|Q5JW74|Q86UZ5|Q9UQ25	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.F875L	ENST00000361216.3	37	c.2625	CCDS1196.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.5|22.5	4.293509|4.293509	0.80914|0.80914	.|.	.|.	ENSG00000018625|ENSG00000018625	ENST00000361216;ENST00000392233;ENST00000435866|ENST00000447527	D;D|.	0.88741|.	-2.42;-2.42|.	4.71|4.71	0.642|0.642	0.17765|0.17765	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72851|0.72851	0.3512|0.3512	H|H	0.94222|0.94222	3.51|3.51	0.53688|0.53688	D|D	0.999975|0.999975	B;D|.	0.89917|.	0.166;1.0|.	B;D|.	0.91635|.	0.148;0.999|.	T|T	0.75354|0.75354	-0.3347|-0.3347	10|5	0.87932|.	D|.	0|.	.|.	8.4901|8.4901	0.33095|0.33095	0.0:0.6602:0.0:0.3398|0.0:0.6602:0.0:0.3398	.|.	775;875|.	F5GXJ7;P50993|.	.;AT1A2_HUMAN|.	L|C	875;875;578|569	ENSP00000354490:F875L;ENSP00000376066:F875L|.	ENSP00000354490:F875L|.	F|S	+|+	3|2	2|0	ATP1A2|ATP1A2	158373045|158373045	1.000000|1.000000	0.71417|0.71417	0.938000|0.938000	0.37757|0.37757	0.989000|0.989000	0.77384|0.77384	2.008000|2.008000	0.40893|0.40893	0.029000|0.029000	0.15352|0.15352	0.561000|0.561000	0.74099|0.74099	TTC|TCC	ATP1A2	-	pfam_ATPase_P-typ_cation-transptr_C,tigrfam_ATPase_P-typ_cation-ex_asu_euk		0.582	ATP1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP1A2	HGNC	protein_coding	OTTHUMT00000060642.2	C	NM_000702		160106421	+1	no_errors	ENST00000361216	ensembl	human	known	70_37	missense	SNP	1.000	G
ATP1A3	478	genome.wustl.edu	37	19	42489498	42489498	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:42489498C>T	ENST00000302102.5	-	7	834	c.684G>A	c.(682-684)gaG>gaA	p.E228E	ATP1A3_ENST00000602133.1_Silent_p.E198E|ATP1A3_ENST00000543770.1_Silent_p.E239E|ATP1A3_ENST00000545399.1_Silent_p.E241E|ATP1A3_ENST00000468774.2_5'Flank	NM_152296.4	NP_689509.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	228					adult locomotory behavior (GO:0008344)|ATP biosynthetic process (GO:0006754)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular potassium ion homeostasis (GO:0030007)|cellular response to steroid hormone stimulus (GO:0071383)|cellular sodium ion homeostasis (GO:0006883)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|memory (GO:0007613)|potassium ion import (GO:0010107)|response to drug (GO:0042493)|sodium ion export from cell (GO:0036376)|transmembrane transport (GO:0055085)|visual learning (GO:0008542)	axon (GO:0030424)|dendritic spine head (GO:0044327)|dendritic spine neck (GO:0044326)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)|synapse (GO:0045202)|vesicle (GO:0031982)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)|steroid hormone binding (GO:1990239)			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						TGTTCCGAGTCTCCAAGGGGT	0.607																																																	0													95.0	83.0	87.0					19																	42489498		2203	4300	6503	SO:0001819	synonymous_variant	478				CCDS12594.1, CCDS58663.1, CCDS58664.1	19q13.2	2012-10-22			ENSG00000105409	ENSG00000105409	3.6.3.9	"""ATPases / P-type"""	801	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-3"", ""sodium pump subunit alpha-3"", ""sodium-potassium ATPase catalytic subunit alpha-3"""	182350	"""dystonia 12"""	DYT12		17282997	Standard	NM_152296		Approved		uc002osh.4	P13637	OTTHUMG00000137384	ENST00000302102.5:c.684G>A	19.37:g.42489498C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2T0|B7Z401|F5H6J6|Q16732|Q16735|Q969K5	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_cation-exchng_asu,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr	p.E228	ENST00000302102.5	37	c.684	CCDS12594.1	19																																																																																			ATP1A3	-	pfam_ATPase_P-typ_ATPase-assoc-dom,tigrfam_ATPase_P-typ_cation-ex_asu_euk,tigrfam_ATPase_P-typ_ion-transptr		0.607	ATP1A3-001	KNOWN	basic|CCDS	protein_coding	ATP1A3	HGNC	protein_coding	OTTHUMT00000268107.1	C	NM_152296		42489498	-1	no_errors	ENST00000302102	ensembl	human	known	70_37	silent	SNP	1.000	T
ATP2B3	492	genome.wustl.edu	37	X	152806980	152806980	+	Silent	SNP	C	C	G	rs377140065		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:152806980C>G	ENST00000349466.2	+	3	698	c.372C>G	c.(370-372)ctC>ctG	p.L124L	ATP2B3_ENST00000393842.1_Silent_p.L124L|ATP2B3_ENST00000263519.4_Silent_p.L124L|ATP2B3_ENST00000370181.2_Silent_p.L124L|ATP2B3_ENST00000370186.1_Silent_p.L124L|ATP2B3_ENST00000359149.3_Silent_p.L124L			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	124					blood coagulation (GO:0007596)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|metal ion binding (GO:0046872)			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGGGCCTCTCGTTCTATG	0.627																																																	0													102.0	86.0	91.0					X																	152806980		2203	4300	6503	SO:0001819	synonymous_variant	492			U60414	CCDS14722.1, CCDS35440.1	Xq28	2014-07-18			ENSG00000067842	ENSG00000067842	3.6.3.8	"""ATPases / P-type"""	816	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 3"", ""cilia and flagella associated protein 39"""	300014	"""spinocerebellar ataxia, X-linked 1"", ""cerebellar ataxia 2 (X-linked)"""	SCAX1, CLA2		8187550, 22912398	Standard	NM_021949		Approved	PMCA3, CFAP39	uc004fht.1	Q16720	OTTHUMG00000024202	ENST00000349466.2:c.372C>G	X.37:g.152806980C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNR8|B7WNY5|Q12995|Q16858	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.L124	ENST00000349466.2	37	c.372	CCDS35440.1	X																																																																																			ATP2B3	-	smart_ATPase_P-typ_cation-transptr_N		0.627	ATP2B3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B3	HGNC	protein_coding	OTTHUMT00000060957.1	C	NM_021949		152806980	+1	no_errors	ENST00000263519	ensembl	human	known	70_37	silent	SNP	0.546	G
ATP2B4	493	genome.wustl.edu	37	1	203696622	203696622	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203696622G>C	ENST00000357681.5	+	20	4355	c.3232G>C	c.(3232-3234)Gag>Cag	p.E1078Q	ATP2B4_ENST00000367218.3_Missense_Mutation_p.E1078Q|ATP2B4_ENST00000391954.2_Missense_Mutation_p.E1042Q|ATP2B4_ENST00000341360.2_Missense_Mutation_p.E1078Q|ATP2B4_ENST00000367219.3_Missense_Mutation_p.E1066Q|SNORA77_ENST00000408716.1_RNA|ATP2B4_ENST00000466407.1_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1078					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGACTGGATGAGATTGACCA	0.567																																																	0													164.0	151.0	155.0					1																	203696622		2203	4300	6503	SO:0001583	missense	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3232G>C	1.37:g.203696622G>C	ENSP00000350310:p.Glu1078Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_ATPase_P-typ_cation-transptr_C,pfam_ATP_Ca_trans_C,pfam_Dehalogen-like_hydro,pfam_ATPase_P-typ_cation-transptr_N,pfam_HAD-SF_hydro-like_3,superfamily_ATPase_cation_domN,superfamily_HAD-like_dom,smart_ATPase_P-typ_cation-transptr_N,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Ca-transp_PMCA,tigrfam_ATPase_P-typ_ion-transptr	p.E1078Q	ENST00000357681.5	37	c.3232	CCDS1440.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	27.4|27.4	4.830125|4.830125	0.91036|0.91036	.|.	.|.	ENSG00000058668|ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360|ENST00000458092;ENST00000356729	D;D;D;D;D|.	0.94330|.	-3.2;-3.2;-3.21;-3.4;-3.2|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.000000|.	0.49916|.	D|.	0.000126|.	D|D	0.83202|0.83202	0.5203|0.5203	M|M	0.84433|0.84433	2.695|2.695	0.80722|0.80722	D|D	1|1	D;P;D|.	0.69078|.	0.997;0.5;0.993|.	D;B;P|.	0.65010|.	0.931;0.2;0.787|.	D|D	0.83950|0.83950	0.0316|0.0316	10|5	0.49607|.	T|.	0.09|.	-34.6282|-34.6282	19.5738|19.5738	0.95432|0.95432	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1078;1078;1078|.	P23634;P23634-6;B1APW5|.	AT2B4_HUMAN;.;.|.	Q|I	1078;1078;1066;1042;1078|64;42	ENSP00000350310:E1078Q;ENSP00000356187:E1078Q;ENSP00000356188:E1066Q;ENSP00000375816:E1042Q;ENSP00000340930:E1078Q|.	ENSP00000340930:E1078Q|.	E|M	+|+	1|3	0|0	ATP2B4|ATP2B4	201963245|201963245	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.569000|0.569000	0.35902|0.35902	9.863000|9.863000	0.99569|0.99569	2.719000|2.719000	0.93026|0.93026	0.555000|0.555000	0.69702|0.69702	GAG|ATG	ATP2B4	-	NULL		0.567	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP2B4	HGNC	protein_coding	OTTHUMT00000087462.1	G	NM_001001396		203696622	+1	no_errors	ENST00000357681	ensembl	human	known	70_37	missense	SNP	1.000	C
ATP2B4	493	genome.wustl.edu	37	1	203696817	203696817	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203696817G>A	ENST00000466407.1	+	0	323				ATP2B4_ENST00000357681.5_Intron|ATP2B4_ENST00000367218.3_Intron|ATP2B4_ENST00000391954.2_Intron|ATP2B4_ENST00000341360.2_Intron|ATP2B4_ENST00000367219.3_Intron|SNORA77_ENST00000408716.1_RNA			P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4						blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTCACTACTGATGGGCAGCC	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	493			M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000466407.1:c.*320G>A	1.37:g.203696817G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	RNA	SNP	-	NULL	ENST00000466407.1	37	NULL		1																																																																																			ATP2B4	-	-		0.542	ATP2B4-005	KNOWN	basic	processed_transcript	ATP2B4	HGNC	protein_coding	OTTHUMT00000098774.1	G	NM_001001396		203696817	+1	no_errors	ENST00000466407	ensembl	human	known	70_37	rna	SNP	0.000	A
ATP6V0A1	535	genome.wustl.edu	37	17	40673241	40673241	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40673241C>T	ENST00000343619.4	+	0	2740				ATP6V0A1_ENST00000537728.1_3'UTR|ATP6V0A1_ENST00000587797.1_3'UTR|ATP6V0A1_ENST00000585525.1_3'UTR|ATP6V0A1_ENST00000264649.6_3'UTR|ATP6V0A1_ENST00000544137.1_3'UTR|ATP6V0A1_ENST00000546249.1_3'UTR|ATP6V0A1_ENST00000393829.2_3'UTR	NM_001130021.1	NP_001123493.1	Q93050	VPP1_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a1						ATP hydrolysis coupled proton transport (GO:0015991)|cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytoplasm (GO:0005737)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)|vacuolar proton-transporting V-type ATPase, V0 domain (GO:0000220)	ATPase binding (GO:0051117)|hydrogen ion transmembrane transporter activity (GO:0015078)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		GGCACCAGCTCATTCGTGTCA	0.557																																																	0																																										SO:0001624	3_prime_UTR_variant	535			U73006	CCDS11426.1, CCDS45683.1, CCDS45684.1	17q21	2010-04-21	2006-01-20	2002-05-10	ENSG00000033627	ENSG00000033627		"""ATPases / V-type"""	865	protein-coding gene	gene with protein product		192130	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump) non-catalytic accessory protein 1A (110/116kD)"", ""ATPase, H+ transporting, lysosomal V0 subunit a isoform 1"", ""ATPase, H+ transporting, lysosomal V0 subunit A1"""	VPP1, ATP6N1, ATP6N1A		7774924	Standard	NM_001130020		Approved	a1, Vph1, Stv1	uc002hzs.3	Q93050		ENST00000343619.4:c.*103C>T	17.37:g.40673241C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3B7|Q8N5G7|Q9NSX0	RNA	SNP	-	NULL	ENST00000343619.4	37	NULL	CCDS45684.1	17																																																																																			ATP6V0A1	-	-		0.557	ATP6V0A1-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATP6V0A1	HGNC	protein_coding	OTTHUMT00000450364.1	C	NM_001130020		40673241	+1	no_errors	ENST00000587299	ensembl	human	known	70_37	rna	SNP	0.016	T
ATP6V1G2	534	genome.wustl.edu	37	6	31513120	31513120	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:31513120G>A	ENST00000303892.5	-	0	706				ATP6V1G2-DDX39B_ENST00000475917.1_Intron|DDX39B-AS1_ENST00000420520.1_RNA|DDX39B_ENST00000396172.1_5'Flank|ATP6V1G2-DDX39B_ENST00000376185.1_Intron|NFKBIL1_ENST00000376148.4_5'Flank|NFKBIL1_ENST00000376145.4_5'Flank|DDX39B-AS1_ENST00000416684.1_RNA|DDX39B_ENST00000458640.1_5'Flank|ATP6V1G2_ENST00000483251.1_3'UTR|ATP6V1G2_ENST00000483170.1_5'UTR|DDX39B_ENST00000417556.2_5'Flank|ATP6V1G2_ENST00000376151.4_3'UTR	NM_130463.3|NM_138282.2	NP_569730.1|NP_612139.1	O95670	VATG2_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2						cellular iron ion homeostasis (GO:0006879)|insulin receptor signaling pathway (GO:0008286)|interaction with host (GO:0051701)|phagosome maturation (GO:0090382)|proton transport (GO:0015992)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|vacuolar proton-transporting V-type ATPase complex (GO:0016471)	hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances (GO:0016820)			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5						GGTGGGAGGTGATTTTGATTG	0.502																																																	0																																										SO:0001624	3_prime_UTR_variant	534			Y14768	CCDS4698.1, CCDS4699.1, CCDS56413.1	6p21.3	2011-03-29	2006-01-13	2002-05-10	ENSG00000213760	ENSG00000213760		"""ATPases / V-type"""	862	protein-coding gene	gene with protein product		606853	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump)"", ""ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G isoform 2"""	ATP6G, ATP6G2		10202016	Standard	NM_138282		Approved	Vma10, NG38, Em:AC004181.3	uc003nua.3	O95670	OTTHUMG00000166618	ENST00000303892.5:c.*65C>T	6.37:g.31513120G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MEF0|Q2L6F8|Q5HYU8|Q5RJ63	RNA	SNP	-	NULL	ENST00000303892.5	37	NULL	CCDS4698.1	6																																																																																			ATP6V1G2	-	-		0.502	ATP6V1G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6V1G2	HGNC	protein_coding	OTTHUMT00000076399.3	G	NM_130463		31513120	-1	no_errors	ENST00000483170	ensembl	human	known	70_37	rna	SNP	0.000	A
AUTS2	26053	genome.wustl.edu	37	7	70163662	70163662	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:70163662C>G	ENST00000342771.4	+	6	1063				AUTS2_ENST00000406775.2_Intron|AUTS2_ENST00000489774.1_3'UTR	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2											breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GTTTCATTGTCATTGCCTAGG	0.358																																																	0													70.0	54.0	59.0					7																	70163662		692	1591	2283	SO:0001627	intron_variant	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.742+56C>G	7.37:g.70163662C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	RNA	SNP	-	NULL	ENST00000342771.4	37	NULL	CCDS5539.1	7																																																																																			AUTS2	-	-		0.358	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	C			70163662	+1	no_errors	ENST00000489774	ensembl	human	known	70_37	rna	SNP	0.143	G
AUTS2	26053	genome.wustl.edu	37	7	70231180	70231180	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:70231180C>T	ENST00000342771.4	+	9	1870	c.1549C>T	c.(1549-1551)Ccg>Tcg	p.P517S	AUTS2_ENST00000406775.2_Missense_Mutation_p.P517S	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	517										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCTGGGCCCTCCGCCCTACCT	0.612																																																	0													187.0	184.0	185.0					7																	70231180		2203	4300	6503	SO:0001583	missense	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.1549C>T	7.37:g.70231180C>T	ENSP00000344087:p.Pro517Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	prints_AUTS2	p.P517S	ENST00000342771.4	37	c.1549	CCDS5539.1	7	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719118	0.68844	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.11712	2.75;2.75	5.77	5.77	0.91146	.	0.050344	0.85682	D	0.000000	T	0.25644	0.0624	L	0.38175	1.15	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.73708	0.981;0.93	T	0.00337	-1.1807	9	.	.	.	-18.5372	19.9983	0.97395	0.0:1.0:0.0:0.0	.	517;517	Q8WXX7-2;Q8WXX7	.;AUTS2_HUMAN	S	517	ENSP00000385263:P517S;ENSP00000344087:P517S	.	P	+	1	0	AUTS2	69869116	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	5.714000	0.68422	2.724000	0.93272	0.561000	0.74099	CCG	AUTS2	-	NULL		0.612	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AUTS2	HGNC	protein_coding	OTTHUMT00000251971.2	C			70231180	+1	no_errors	ENST00000342771	ensembl	human	known	70_37	missense	SNP	1.000	T
BAIAP3	8938	genome.wustl.edu	37	16	1384720	1384720	+	Missense_Mutation	SNP	A	A	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1384720A>G	ENST00000324385.5	+	1	216	c.58A>G	c.(58-60)Acc>Gcc	p.T20A	BAIAP3_ENST00000397488.2_Intron|BAIAP3_ENST00000562208.1_Intron|BAIAP3_ENST00000421665.2_5'Flank|BAIAP3_ENST00000426824.3_Intron|BAIAP3_ENST00000568887.1_Intron|BAIAP3_ENST00000397489.1_5'UTR	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	20					G-protein coupled receptor signaling pathway (GO:0007186)|neurotransmitter secretion (GO:0007269)		protein C-terminus binding (GO:0008022)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCACCTGGGCACCGCCATCGG	0.672																																																	0													8.0	10.0	9.0					16																	1384720		2117	4184	6301	SO:0001583	missense	8938			AB017111	CCDS10434.1, CCDS55978.1, CCDS55979.1, CCDS58402.1, CCDS58403.1, CCDS66894.1	16p13.3	2008-07-04			ENSG00000007516	ENSG00000007516			948	protein-coding gene	gene with protein product		604009				9790924	Standard	NM_003933		Approved	BAP3, KIAA0734	uc002clk.2	O94812	OTTHUMG00000047833	ENST00000324385.5:c.58A>G	16.37:g.1384720A>G	ENSP00000324510:p.Thr20Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B2|B2RCD7|B4DGS5|B4DIK3|B4DRK9|B4DRP1|E7EUB9|H3BUH8|H3BVI3|H7C2Q1|O94839|Q2M226|Q658J2|Q76N05|Q96RZ3|Q9UJK1	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Munc13_subgr_dom-2,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T20A	ENST00000324385.5	37	c.58	CCDS10434.1	16	.	.	.	.	.	.	.	.	.	.	A	9.748	1.166783	0.21621	.	.	ENSG00000007516	ENST00000324385	T	0.70516	-0.49	1.48	-0.93	0.10441	.	2.384220	0.03756	U	0.257345	T	0.42108	0.1188	N	0.08118	0	0.09310	N	0.999994	B;B	0.27416	0.178;0.062	B;B	0.16722	0.016;0.007	T	0.34900	-0.9810	10	0.05620	T	0.96	.	4.1487	0.10228	0.565:0.0:0.435:0.0	.	20;20	B4DGA2;O94812	.;BAIP3_HUMAN	A	20	ENSP00000324510:T20A	ENSP00000324510:T20A	T	+	1	0	BAIAP3	1324721	0.000000	0.05858	0.000000	0.03702	0.058000	0.15608	-0.628000	0.05515	-0.317000	0.08677	0.172000	0.16884	ACC	BAIAP3	-	NULL		0.672	BAIAP3-001	KNOWN	basic|CCDS	protein_coding	BAIAP3	HGNC	protein_coding	OTTHUMT00000109056.3	A			1384720	+1	no_errors	ENST00000324385	ensembl	human	known	70_37	missense	SNP	0.000	G
BBS9	27241	genome.wustl.edu	37	7	33312684	33312684	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:33312684C>T	ENST00000242067.6	+	8	1284	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	BBS9_ENST00000355070.2_Nonsense_Mutation_p.Q255*|BBS9_ENST00000396127.2_Nonsense_Mutation_p.Q255*|BBS9_ENST00000354265.4_Nonsense_Mutation_p.Q255*|BBS9_ENST00000425508.2_Nonsense_Mutation_p.Q210*|BBS9_ENST00000350941.3_Nonsense_Mutation_p.Q255*	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	255					cilium assembly (GO:0042384)|fat cell differentiation (GO:0045444)|protein transport (GO:0015031)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	BBSome (GO:0034464)|cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)			BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			CTCTTTCAATCAGTCGGCATC	0.383									Bardet-Biedl syndrome																																								0													218.0	211.0	214.0					7																	33312684		2203	4300	6503	SO:0001587	stop_gained	27241	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome		CCDS5441.1, CCDS34618.1, CCDS43566.1, CCDS47572.1	7p14	2014-06-17			ENSG00000122507	ENSG00000122507			30000	protein-coding gene	gene with protein product	"""parathyroid hormone responsive B1 gene"""	607968				16380913, 10221542	Standard	XM_005249701		Approved	B1, PTHB1	uc003tdn.1	Q3SYG4	OTTHUMG00000128659	ENST00000242067.6:c.763C>T	7.37:g.33312684C>T	ENSP00000242067:p.Gln255*	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDC9|P78514|Q7KYS6|Q7KYS7|Q8N570|Q99844|Q99854|Q9Y699|Q9Y6A0	Nonsense_Mutation	SNP	NULL	p.Q255*	ENST00000242067.6	37	c.763	CCDS43566.1	7	.	.	.	.	.	.	.	.	.	.	C	40	8.516960	0.98845	.	.	ENSG00000122507	ENST00000242067;ENST00000350941;ENST00000396127;ENST00000355070;ENST00000354265;ENST00000396132;ENST00000396125;ENST00000425508;ENST00000442858;ENST00000537775	.	.	.	5.81	5.81	0.92471	.	0.056507	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	-5.473	20.0826	0.97783	0.0:1.0:0.0:0.0	.	.	.	.	X	255;255;255;255;255;255;255;210;133;133	.	ENSP00000242067:Q255X	Q	+	1	0	BBS9	33279209	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.521000	0.81832	2.746000	0.94184	0.655000	0.94253	CAG	BBS9	-	NULL		0.383	BBS9-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBS9	HGNC	protein_coding	OTTHUMT00000329064.1	C			33312684	+1	no_errors	ENST00000242067	ensembl	human	known	70_37	nonsense	SNP	1.000	T
BCAS1	8537	genome.wustl.edu	37	20	52601929	52601929	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:52601929G>A	ENST00000395961.3	-	7	1203	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	BCAS1_ENST00000371440.3_Missense_Mutation_p.S391L|BCAS1_ENST00000371435.2_Missense_Mutation_p.S346L|BCAS1_ENST00000434986.2_Missense_Mutation_p.S104L	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	346						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGTGTGCCCCGATGGGTTGCA	0.532																																																	0													252.0	220.0	231.0					20																	52601929		2203	4300	6503	SO:0001583	missense	8537			AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.1037C>T	20.37:g.52601929G>A	ENSP00000379290:p.Ser346Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVG5|Q68CZ3	Missense_Mutation	SNP	NULL	p.S391L	ENST00000395961.3	37	c.1172	CCDS13444.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.15|12.15	1.852981|1.852981	0.32699|0.32699	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000422805|ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986	.|T;T;T;T;T	.|0.06068	.|3.35;3.35;3.35;3.35;3.35	4.34|4.34	3.39|3.39	0.38822|0.38822	.|.	.|1.448190	.|0.04367	.|N	.|0.358459	T|T	0.07369|0.07369	0.0186|0.0186	L|L	0.29908|0.29908	0.895|0.895	0.19575|0.19575	N|N	0.999962|0.999962	.|B;P;P;D;D;D	.|0.56035	.|0.394;0.769;0.876;0.961;0.974;0.974	.|B;B;B;B;B;B	.|0.42422	.|0.062;0.121;0.062;0.387;0.301;0.301	T|T	0.36915|0.36915	-0.9728|-0.9728	5|10	.|0.52906	.|T	.|0.07	3.7824|3.7824	7.9718|7.9718	0.30132|0.30132	0.1162:0.0:0.8838:0.0|0.1162:0.0:0.8838:0.0	.|.	.|346;104;391;346;346;346	.|B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363	.|.;.;.;.;.;BCAS1_HUMAN	W|L	65|253;391;224;346;346;104	.|ENSP00000396361:S253L;ENSP00000360495:S391L;ENSP00000379290:S346L;ENSP00000360490:S346L;ENSP00000409956:S104L	.|ENSP00000360490:S346L	R|S	-|-	1|2	2|0	BCAS1|BCAS1	52035336|52035336	0.058000|0.058000	0.20735|0.20735	0.001000|0.001000	0.08648|0.08648	0.003000|0.003000	0.03518|0.03518	2.025000|2.025000	0.41059|0.41059	0.789000|0.789000	0.33779|0.33779	0.655000|0.655000	0.94253|0.94253	CGG|TCG	BCAS1	-	NULL		0.532	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCAS1	HGNC	protein_coding	OTTHUMT00000079766.2	G	NM_003657		52601929	-1	no_errors	ENST00000371440	ensembl	human	known	70_37	missense	SNP	0.002	A
BCL11A	53335	genome.wustl.edu	37	2	60780445	60780445	+	5'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:60780445C>T	ENST00000335712.6	-	0	188				BCL11A_ENST00000356842.4_5'UTR|BCL11A_ENST00000538214.1_5'UTR|BCL11A_ENST00000358510.4_5'UTR|BCL11A_ENST00000537768.1_5'UTR|BCL11A_ENST00000359629.5_5'UTR	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)						B cell differentiation (GO:0030183)|negative regulation of axon extension (GO:0030517)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|negative regulation of protein homooligomerization (GO:0032463)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein sumoylation (GO:0016925)|regulation of dendrite development (GO:0050773)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|transcription corepressor activity (GO:0003714)			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			gcggcggcggcggcggGCGGA	0.607			T	IGH@	B-CLL																																			Dom	yes		2	2p13	53335	B-cell CLL/lymphoma 11A		L	0													4.0	5.0	5.0					2																	60780445		1403	3140	4543	SO:0001623	5_prime_UTR_variant	53335			AJ404611	CCDS1861.1, CCDS1862.1, CCDS46295.1	2p16.1	2013-01-08	2002-05-08		ENSG00000119866	ENSG00000119866		"""Zinc fingers, C2H2-type"""	13221	protein-coding gene	gene with protein product		606557	"""ecotropic viral integration site 9"""	EVI9		11719382, 18245381	Standard	NM_018014		Approved	BCL11A-XL, BCL11A-L, BCL11A-S, CTIP1, HBFQTL5, ZNF856	uc002sae.1	Q9H165	OTTHUMG00000129420	ENST00000335712.6:c.-40G>A	2.37:g.60780445C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5D7|Q86W14|Q8WU92|Q96JL6|Q9H163|Q9H164|Q9H3G9|Q9NWA7	RNA	SNP	-	NULL	ENST00000335712.6	37	NULL	CCDS1862.1	2																																																																																			BCL11A	-	-		0.607	BCL11A-001	KNOWN	basic|CCDS	protein_coding	BCL11A	HGNC	protein_coding	OTTHUMT00000251579.2	C	NM_022893		60780445	-1	no_errors	ENST00000409351	ensembl	human	putative	70_37	rna	SNP	1.000	T
BCL2L15	440603	genome.wustl.edu	37	1	114429234	114429234	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:114429234C>T	ENST00000393316.3	-	2	345	c.174G>A	c.(172-174)cgG>cgA	p.R58R	BCL2L15_ENST00000488450.1_Intron|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000471267.1_Silent_p.R58R|AP4B1-AS1_ENST00000419536.1_RNA	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	58					apoptotic process (GO:0006915)	cytosol (GO:0005829)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACCCAACATCCGAAGGCGAC	0.453																																																	0													117.0	102.0	107.0					1																	114429234		2203	4300	6503	SO:0001819	synonymous_variant	440603				CCDS30809.1	1p13.2	2014-03-07			ENSG00000188761	ENSG00000188761			33624	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 178"""	C1orf178		12700646, 15961081, 16690252, 17412810	Standard	NM_001010922		Approved	Bfk, FLJ22588	uc001edw.3	Q5TBC7	OTTHUMG00000011940	ENST00000393316.3:c.174G>A	1.37:g.114429234C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJY6|A8K074|I6LA82	Silent	SNP	NULL	p.R58	ENST00000393316.3	37	c.174	CCDS30809.1	1																																																																																			BCL2L15	-	NULL		0.453	BCL2L15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL2L15	HGNC	protein_coding	OTTHUMT00000033026.2	C	NM_001010922		114429234	-1	no_errors	ENST00000393316	ensembl	human	known	70_37	silent	SNP	0.262	T
BCL6	604	genome.wustl.edu	37	3	187443392	187443392	+	Silent	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:187443392G>T	ENST00000406870.2	-	8	2100	c.1734C>A	c.(1732-1734)atC>atA	p.I578I	BCL6_ENST00000232014.4_Silent_p.I578I|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000450123.2_Silent_p.I522I	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	578					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GGGCCCCACAGATGTTGCAAC	0.488			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																			Dom	yes		3	3q27	604	B-cell CLL/lymphoma 6		L	0													112.0	120.0	118.0					3																	187443392		2203	4300	6503	SO:0001819	synonymous_variant	604				CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.1734C>A	3.37:g.187443392G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E241|B8PSA7|D3DNV5	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I578	ENST00000406870.2	37	c.1734	CCDS3289.1	3																																																																																			BCL6	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.488	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL6	HGNC	protein_coding	OTTHUMT00000344202.1	G	NM_138931		187443392	-1	no_errors	ENST00000232014	ensembl	human	known	70_37	silent	SNP	1.000	T
BCL9	607	genome.wustl.edu	37	1	147096044	147096044	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:147096044G>C	ENST00000234739.3	+	10	4305	c.3565G>C	c.(3565-3567)Gat>Cat	p.D1189H		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	1189	Pro-rich.				canonical Wnt signaling pathway (GO:0060070)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell maintenance (GO:0035019)	cis-Golgi network (GO:0005801)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAGTTCAGCAGATGCAGCACT	0.632			T	"""IGH@, IGL@"""	B-ALL																																			Dom	yes		1	1q21	607	B-cell CLL/lymphoma 9		L	0													35.0	38.0	37.0					1																	147096044		2203	4300	6503	SO:0001583	missense	607			Y13620	CCDS30833.1	1q21	2008-02-05			ENSG00000116128	ENSG00000116128			1008	protein-coding gene	gene with protein product		602597				9490669	Standard	NM_004326		Approved		uc001epq.3	O00512	OTTHUMG00000014031	ENST00000234739.3:c.3565G>C	1.37:g.147096044G>C	ENSP00000234739:p.Asp1189His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T489	Missense_Mutation	SNP	pfam_BCL9_beta-catenin-bd_dom	p.D1189H	ENST00000234739.3	37	c.3565	CCDS30833.1	1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253323	0.39797	.	.	ENSG00000116128	ENST00000234739	T	0.56275	0.47	5.2	5.2	0.72013	.	0.055508	0.64402	D	0.000001	T	0.38374	0.1038	N	0.22421	0.69	0.54753	D	0.999984	P;D	0.58620	0.951;0.983	P;B	0.47206	0.541;0.443	T	0.41270	-0.9518	10	0.62326	D	0.03	-9.2468	19.1136	0.93328	0.0:0.0:1.0:0.0	.	1189;1189	Q1JQ81;O00512	.;BCL9_HUMAN	H	1189	ENSP00000234739:D1189H	ENSP00000234739:D1189H	D	+	1	0	BCL9	145562668	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	9.174000	0.94824	2.599000	0.87857	0.655000	0.94253	GAT	BCL9	-	NULL		0.632	BCL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL9	HGNC	protein_coding	OTTHUMT00000039468.1	G	NM_004326		147096044	+1	no_errors	ENST00000234739	ensembl	human	known	70_37	missense	SNP	1.000	C
BCOR	54880	genome.wustl.edu	37	X	39933798	39933798	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:39933798G>A	ENST00000378444.4	-	4	1029	c.801C>T	c.(799-801)ctC>ctT	p.L267L	BCOR_ENST00000378455.4_Silent_p.L267L|BCOR_ENST00000342274.4_Silent_p.L267L|BCOR_ENST00000397354.3_Silent_p.L267L	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	267					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AAGGTGTCGAGAGCCTCATGG	0.602			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													41.0	27.0	32.0					X																	39933798		2201	4300	6501	SO:0001819	synonymous_variant	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.801C>T	X.37:g.39933798G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.L267	ENST00000378444.4	37	c.801	CCDS48093.1	X																																																																																			BCOR	-	NULL		0.602	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	G	NM_017745		39933798	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	silent	SNP	0.996	A
BCORL1	63035	genome.wustl.edu	37	X	129139210	129139210	+	Start_Codon_SNP	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:129139210G>A	ENST00000218147.7	+	2	200	c.3G>A	c.(1-3)atG>atA	p.M1I	BCORL1_ENST00000540052.1_Start_Codon_SNP_p.M1I|BCORL1_ENST00000303743.5_Start_Codon_SNP_p.M1I|BCORL1_ENST00000359304.2_Start_Codon_SNP_p.M1I|BCORL1_ENST00000607874.1_3'UTR			Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGCTGTCATGATCTCTACAG	0.547																																																	0													147.0	128.0	135.0					X																	129139210		2203	4300	6503	SO:0001582	initiator_codon_variant	63035			AL136450	CCDS14616.1	Xq25-q26.1	2014-09-17	2010-06-10		ENSG00000085185	ENSG00000085185		"""Ankyrin repeat domain containing"""	25657	protein-coding gene	gene with protein product		300688	"""chromosome X open reading frame 10"", ""BCL6 co-repressor-like 1"""	CXorf10			Standard	NM_021946		Approved	FLJ11362	uc022cdu.1	Q5H9F3	OTTHUMG00000022379	ENST00000218147.7:c.3G>A	X.37:g.129139210G>A	ENSP00000218147:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDQ8|Q5H9F2|Q5H9F4|Q6ZVE0|Q8TEN3|Q9Y528	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.M1I	ENST00000218147.7	37	c.3	CCDS14616.1	X	.	.	.	.	.	.	.	.	.	.	G	17.88	3.498394	0.64298	.	.	ENSG00000085185	ENST00000218147;ENST00000303743;ENST00000359304;ENST00000540052	T;T;T;T	0.62498	0.05;0.4;0.02;0.05	4.72	4.72	0.59763	.	0.000000	0.38663	N	0.001605	T	0.78742	0.4331	.	.	.	0.80722	D	1	D	0.57899	0.981	D	0.65140	0.932	T	0.82707	-0.0324	9	0.87932	D	0	-10.69	17.0962	0.86635	0.0:0.0:1.0:0.0	.	1	Q5H9F3	BCORL_HUMAN	I	1	ENSP00000218147:M1I;ENSP00000307541:M1I;ENSP00000352253:M1I;ENSP00000437775:M1I	ENSP00000218147:M1I	M	+	3	0	BCORL1	128966891	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.002000	0.76304	1.956000	0.56807	0.436000	0.28706	ATG	BCORL1	-	NULL		0.547	BCORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCORL1	HGNC	protein_coding	OTTHUMT00000058223.1	G	NM_021946	Missense_Mutation	129139210	+1	no_errors	ENST00000303743	ensembl	human	known	70_37	missense	SNP	1.000	A
BEND3	57673	genome.wustl.edu	37	6	107392134	107392134	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:107392134C>T	ENST00000369042.1	-	4	451	c.261G>A	c.(259-261)cgG>cgA	p.R87R	BEND3_ENST00000429433.2_Silent_p.R87R			Q5T5X7	BEND3_HUMAN	BEN domain containing 3	87										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TCTCACGGTTCCGCATGCCTG	0.572																																																	0													26.0	26.0	26.0					6																	107392134		2203	4300	6503	SO:0001819	synonymous_variant	57673			AB046773	CCDS34507.1	6q21	2012-11-22	2008-10-03	2008-10-03	ENSG00000178409	ENSG00000178409		"""BEN domain containing"""	23040	protein-coding gene	gene with protein product			"""KIAA1553"""	KIAA1553			Standard	NM_001080450		Approved		uc003prs.2	Q5T5X7	OTTHUMG00000015308	ENST00000369042.1:c.261G>A	6.37:g.107392134C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRH2|Q9HCL9	Silent	SNP	pfam_BEN_domain	p.R87	ENST00000369042.1	37	c.261	CCDS34507.1	6																																																																																			BEND3	-	NULL		0.572	BEND3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BEND3	HGNC	protein_coding	OTTHUMT00000041686.1	C	NM_020913		107392134	-1	no_errors	ENST00000369042	ensembl	human	known	70_37	silent	SNP	0.996	T
BFAR	51283	genome.wustl.edu	37	16	14749053	14749053	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:14749053C>A	ENST00000261658.2	+	5	1046	c.769C>A	c.(769-771)Ctc>Atc	p.L257I	BFAR_ENST00000563971.1_Missense_Mutation_p.L132I|BFAR_ENST00000426842.2_Missense_Mutation_p.L129I	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	257					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CCCCCAGAATCTCTGGGAATA	0.343																																																	0													52.0	56.0	55.0					16																	14749053		2197	4300	6497	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.769C>A	16.37:g.14749053C>A	ENSP00000261658:p.Leu257Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Znf_C3HC4_RING-type,pfam_SAM_2,superfamily_SAM/pointed,smart_Znf_RING,smart_SAM,pfscan_SAM,pfscan_Znf_RING	p.L257I	ENST00000261658.2	37	c.769	CCDS10554.1	16	.	.	.	.	.	.	.	.	.	.	C	17.50	3.405311	0.62288	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.60171	2.53;0.21	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.62122	0.2402	L	0.27053	0.805	0.58432	D	0.999991	D;D;D	0.76494	0.993;0.999;0.999	D;D;D	0.78314	0.981;0.991;0.991	T	0.65623	-0.6123	10	0.87932	D	0	.	10.602	0.45373	0.0:0.9111:0.0:0.0889	.	129;257;257	B4DUT0;B2R9R6;Q9NZS9	.;.;BFAR_HUMAN	I	257;129	ENSP00000261658:L257I;ENSP00000400634:L129I	ENSP00000261658:L257I	L	+	1	0	BFAR	14656554	1.000000	0.71417	1.000000	0.80357	0.542000	0.35054	4.765000	0.62271	2.239000	0.73571	0.313000	0.20887	CTC	BFAR	-	NULL		0.343	BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BFAR	HGNC	protein_coding	OTTHUMT00000252088.1	C	NM_016561		14749053	+1	no_errors	ENST00000261658	ensembl	human	known	70_37	missense	SNP	1.000	A
BICC1	80114	genome.wustl.edu	37	10	60573642	60573642	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:60573642G>T	ENST00000373886.3	+	18	2433	c.2429G>T	c.(2428-2430)gGa>gTa	p.G810V	BICC1_ENST00000263103.1_Missense_Mutation_p.G436V	NM_001080512.1	NP_001073981.1	Q9H694	BICC1_HUMAN	BicC family RNA binding protein 1	810					multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)	cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						TTGGGAGGTGGAAGCGAATCT	0.448																																																	0													173.0	159.0	164.0					10																	60573642		2203	4300	6503	SO:0001583	missense	80114			AK026129	CCDS31206.1	10q21.3	2014-09-17	2014-02-03		ENSG00000122870	ENSG00000122870		"""Sterile alpha motif (SAM) domain containing"""	19351	protein-coding gene	gene with protein product		614295	"""bicaudal C homolog 1 (Drosophila)"""				Standard	XM_005270166		Approved		uc001jki.1	Q9H694	OTTHUMG00000018271	ENST00000373886.3:c.2429G>T	10.37:g.60573642G>T	ENSP00000362993:p.Gly810Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_KH_dom_type_1,pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_KH_dom,smart_SAM,pfscan_SAM,pfscan_KH_dom_type_1	p.G810V	ENST00000373886.3	37	c.2429	CCDS31206.1	10	.	.	.	.	.	.	.	.	.	.	G	29.2	4.989595	0.93106	.	.	ENSG00000122870	ENST00000373886;ENST00000263103	T;T	0.55588	1.5;0.51	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.69504	0.3118	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.65911	-0.6053	10	0.42905	T	0.14	-15.1343	18.5214	0.90954	0.0:0.0:1.0:0.0	.	730;810	E7EU62;Q9H694	.;BICC1_HUMAN	V	810;436	ENSP00000362993:G810V;ENSP00000263103:G436V	ENSP00000263103:G436V	G	+	2	0	BICC1	60243648	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.707000	0.98725	2.814000	0.96858	0.655000	0.94253	GGA	BICC1	-	NULL		0.448	BICC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BICC1	HGNC	protein_coding	OTTHUMT00000048150.2	G	NM_025044		60573642	+1	no_errors	ENST00000373886	ensembl	human	known	70_37	missense	SNP	1.000	T
CCAR2	57805	genome.wustl.edu	37	8	22478839	22478839	+	3'UTR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:22478839C>G	ENST00000308511.4	+	0	4665				BIN3_ENST00000519513.1_3'UTR|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_3'UTR|BIN3_ENST00000276416.6_3'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										AGGGCCACCTCTGTCCCCAGC	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	55909			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.*1644C>G	8.37:g.22478839C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	RNA	SNP	-	NULL	ENST00000308511.4	37	NULL	CCDS34863.1	8																																																																																			BIN3	-	-		0.612	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN3	HGNC	protein_coding	OTTHUMT00000375865.1	C	NM_021174		22478839	-1	no_errors	ENST00000519335	ensembl	human	known	70_37	rna	SNP	0.003	G
BIRC6	57448	genome.wustl.edu	37	2	32678919	32678919	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:32678919C>T	ENST00000421745.2	+	23	4796	c.4662C>T	c.(4660-4662)ttC>ttT	p.F1554F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1554					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGGGTAGTTTCACATCTCTCA	0.383																																					Pancreas(94;175 1509 16028 18060 45422)												0													207.0	190.0	195.0					2																	32678919		2203	4300	6503	SO:0001819	synonymous_variant	57448			AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.4662C>T	2.37:g.32678919C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULD1	Silent	SNP	pfam_DUF3643,pfam_UBQ-conjugat_E2,pfam_BIR,pfam_UEV_N,superfamily_UBQ-conjugating_enzyme/RWD,superfamily_Galactose-bd-like,superfamily_WD40_repeat_dom,smart_BIR,pfscan_BIR,pfscan_UBQ-conjugat_E2	p.F1554	ENST00000421745.2	37	c.4662	CCDS33175.2	2																																																																																			BIRC6	-	NULL		0.383	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC6	HGNC	protein_coding	OTTHUMT00000318769.3	C	NM_016252		32678919	+1	no_errors	ENST00000421745	ensembl	human	known	70_37	silent	SNP	1.000	T
BMP2K	55589	genome.wustl.edu	37	4	79782564	79782564	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:79782564C>G	ENST00000335016.5	+	9	1175	c.1009C>G	c.(1009-1011)Ctt>Gtt	p.L337V	BMP2K_ENST00000502871.1_Missense_Mutation_p.L337V	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	337					regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TCCTTCAGCTCTTCCTGAACC	0.323																																																	0													61.0	59.0	60.0					4																	79782564		2202	4300	6502	SO:0001583	missense	55589			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.1009C>G	4.37:g.79782564C>G	ENSP00000334836:p.Leu337Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L337V	ENST00000335016.5	37	c.1009	CCDS47083.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.0|26.0	4.698801|4.698801	0.88830|0.88830	.|.	.|.	ENSG00000138756|ENSG00000138756	ENST00000502871;ENST00000335016|ENST00000502613	T;T|.	0.75704|.	-0.96;-0.88|.	5.82|5.82	5.82|5.82	0.92795|0.92795	Protein kinase-like domain (1);|.	0.000000|.	0.64402|.	D|.	0.000001|.	T|T	0.77598|0.77598	0.4154|0.4154	M|M	0.73598|0.73598	2.24|2.24	0.80722|0.80722	D|D	1|1	D;D|.	0.65815|.	0.987;0.995|.	D;P|.	0.67725|.	0.953;0.833|.	T|T	0.75639|0.75639	-0.3248|-0.3248	10|5	0.54805|.	T|.	0.06|.	-19.1665|-19.1665	19.7037|19.7037	0.96065|0.96065	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	337;337|.	Q9NSY1;Q4W5H2|.	BMP2K_HUMAN;.|.	V|C	337|29	ENSP00000421768:L337V;ENSP00000334836:L337V|.	ENSP00000334836:L337V|.	L|S	+|+	1|2	0|0	BMP2K|BMP2K	80001588|80001588	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.988000|6.988000	0.76212|0.76212	2.756000|2.756000	0.94617|0.94617	0.563000|0.563000	0.77884|0.77884	CTT|TCT	BMP2K	-	superfamily_Kinase-like_dom		0.323	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	HGNC	protein_coding		C	NM_017593		79782564	+1	no_errors	ENST00000335016	ensembl	human	known	70_37	missense	SNP	1.000	G
BMPR2	659	genome.wustl.edu	37	2	203242268	203242268	+	Missense_Mutation	SNP	C	C	A	rs370120266		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:203242268C>A	ENST00000374580.4	+	1	610	c.71C>A	c.(70-72)gCg>gAg	p.A24E	BMPR2_ENST00000374574.2_Missense_Mutation_p.A24E|RP11-686O6.2_ENST00000607928.1_lincRNA	NM_001204.6	NP_001195.2	Q13873	BMPR2_HUMAN	bone morphogenetic protein receptor, type II (serine/threonine kinase)	24					activin receptor signaling pathway (GO:0032924)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|blood vessel remodeling (GO:0001974)|BMP signaling pathway (GO:0030509)|brain development (GO:0007420)|cellular response to starvation (GO:0009267)|chondrocyte development (GO:0002063)|limb development (GO:0060173)|lung alveolus development (GO:0048286)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|mesoderm formation (GO:0001707)|negative regulation of cell growth (GO:0030308)|negative regulation of chondrocyte proliferation (GO:1902731)|negative regulation of DNA biosynthetic process (GO:2000279)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of vasoconstriction (GO:0045906)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of bone mineralization (GO:0030501)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|regulation of cell proliferation (GO:0042127)|regulation of lung blood pressure (GO:0014916)|retina vasculature development in camera-type eye (GO:0061298)|transcription from RNA polymerase II promoter (GO:0006366)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|venous blood vessel development (GO:0060841)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|caveola (GO:0005901)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|fully spanning plasma membrane (GO:0044214)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	activin receptor activity, type II (GO:0016362)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)|receptor signaling protein serine/threonine kinase activity (GO:0004702)|transforming growth factor beta-activated receptor activity (GO:0005024)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						GTCAGCACTGCGGCTGGTGAG	0.701																																																	0													44.0	47.0	46.0					2																	203242268		2203	4299	6502	SO:0001583	missense	659			Z48923	CCDS33361.1	2q33-q34	2014-09-17			ENSG00000204217	ENSG00000204217			1078	protein-coding gene	gene with protein product		600799	"""primary pulmonary hypertension 1"""	PPH1		7791754	Standard	NM_001204		Approved	BRK-3, T-ALK, BMPR3, BMPR-II	uc002uzf.4	Q13873	OTTHUMG00000133617	ENST00000374580.4:c.71C>A	2.37:g.203242268C>A	ENSP00000363708:p.Ala24Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13161|Q16569|Q4ZG08|Q53SA5|Q585T8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A24E	ENST00000374580.4	37	c.71	CCDS33361.1	2	.	.	.	.	.	.	.	.	.	.	C	3.389	-0.124651	0.06795	.	.	ENSG00000204217	ENST00000374580;ENST00000374574	D;D	0.88586	-2.4;-2.29	5.4	3.6	0.41247	.	0.552403	0.17356	N	0.177204	T	0.79009	0.4374	N	0.08118	0	0.24774	N	0.99285	B;B;B	0.27498	0.02;0.047;0.18	B;B;B	0.33521	0.008;0.02;0.165	T	0.70769	-0.4782	10	0.62326	D	0.03	.	9.0794	0.36542	0.0:0.8284:0.0:0.1716	.	24;24;24	Q13161;Q13873;A8K8R5	.;BMPR2_HUMAN;.	E	24	ENSP00000363708:A24E;ENSP00000363702:A24E	ENSP00000363702:A24E	A	+	2	0	BMPR2	202950513	1.000000	0.71417	0.991000	0.47740	0.072000	0.16883	4.370000	0.59517	0.664000	0.31047	-0.251000	0.11542	GCG	BMPR2	-	NULL		0.701	BMPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMPR2	HGNC	protein_coding	OTTHUMT00000257743.1	C	NM_001204		203242268	+1	no_errors	ENST00000374580	ensembl	human	known	70_37	missense	SNP	1.000	A
BNIP3P1	319138	genome.wustl.edu	37	14	28734085	28734086	+	RNA	DNP	TC	TC	AT			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:28734085_28734086TC>AT	ENST00000550043.1	+	0	490_491									BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene 1																		GTTGAAAGCATCTTGAAGAAAA	0.46																																																	0																																												319138					14q12	2014-02-04	2011-03-18	2011-03-18	ENSG00000197358	ENSG00000197358			19922	pseudogene	pseudogene			"""BCL2/adenovirus E1B 19kDa interacting protein 3 pseudogene"""	BNIP3P			Standard	NG_002516		Approved				OTTHUMG00000170378	Exception_encountered	14.37:g.28734085_28734086delinsAT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000550043.1	37	NULL		14																																																																																			BNIP3P1	-	-		0.460	BNIP3P1-002	KNOWN	basic	processed_transcript	BNIP3P1	HGNC	pseudogene	OTTHUMT00000408770.1	T|C			28734085|28734086	+1	no_errors	ENST00000550043	ensembl	human	known	70_37	rna	SNP	1.000|0.999	A|T
BRAP	8315	genome.wustl.edu	37	12	112119469	112119469	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:112119469G>C	ENST00000327551.6	-	3	465	c.325C>G	c.(325-327)Cat>Gat	p.H109D	BRAP_ENST00000419234.4_Missense_Mutation_p.H139D|BRAP_ENST00000539060.1_5'UTR			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ATAATACCATGAACTATTTCA	0.368																																					Pancreas(146;846 1904 7830 25130 26065)												0													119.0	115.0	117.0					12																	112119469		2203	4300	6503	SO:0001583	missense	8315			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.325C>G	12.37:g.112119469G>C	ENSP00000330813:p.His109Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.H139D	ENST00000327551.6	37	c.415		12	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861488	0.71949	.	.	ENSG00000089234	ENST00000419234;ENST00000327551	T;T	0.42513	0.97;0.98	6.08	6.08	0.98989	BRCA1-associated 2 (1);	0.000000	0.85682	D	0.000000	T	0.64527	0.2606	M	0.67953	2.075	0.80722	D	1	D	0.63880	0.993	D	0.72338	0.977	T	0.54827	-0.8235	10	0.28530	T	0.3	-19.1782	20.6647	0.99678	0.0:0.0:1.0:0.0	.	139	Q7Z569	BRAP_HUMAN	D	139;109	ENSP00000403524:H139D;ENSP00000330813:H109D	ENSP00000330813:H109D	H	-	1	0	BRAP	110603852	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.167000	0.94773	2.890000	0.99128	0.655000	0.94253	CAT	BRAP	-	NULL		0.368	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	G			112119469	-1	no_errors	ENST00000419234	ensembl	human	known	70_37	missense	SNP	1.000	C
BRCA1	672	genome.wustl.edu	37	17	41246005	41246005	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41246005C>G	ENST00000357654.3	-	10	1661	c.1543G>C	c.(1543-1545)Gag>Cag	p.E515Q	BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000309486.4_Missense_Mutation_p.E219Q|BRCA1_ENST00000493795.1_Missense_Mutation_p.E468Q|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.E515Q|BRCA1_ENST00000354071.3_Missense_Mutation_p.E515Q|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.E515Q|BRCA1_ENST00000491747.2_Intron|BRCA1_ENST00000591849.1_Intron	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	515					androgen receptor signaling pathway (GO:0030521)|apoptotic process (GO:0006915)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to indole-3-methanol (GO:0071681)|cellular response to tumor necrosis factor (GO:0071356)|chromosome segregation (GO:0007059)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|fatty acid biosynthetic process (GO:0006633)|G2 DNA damage checkpoint (GO:0031572)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of centriole replication (GO:0046600)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of DNA repair (GO:0045739)|positive regulation of gene expression (GO:0010628)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K9 acetylation (GO:2000617)|positive regulation of histone H4-K16 acetylation (GO:2000620)|positive regulation of histone H4-K20 methylation (GO:0070512)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation vascular endothelial growth factor production (GO:0010575)|postreplication repair (GO:0006301)|protein autoubiquitination (GO:0051865)|protein K6-linked ubiquitination (GO:0085020)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of cell proliferation (GO:0042127)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to estrogen (GO:0043627)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|BRCA1-BARD1 complex (GO:0031436)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|gamma-tubulin ring complex (GO:0008274)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ribonucleoprotein complex (GO:0030529)|ubiquitin ligase complex (GO:0000151)	androgen receptor binding (GO:0050681)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|ligase activity (GO:0016874)|RNA binding (GO:0003723)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|tubulin binding (GO:0015631)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		ATAAAATCCTCAGGATGAAGG	0.388			"""D, Mis, N, F, S"""		ovarian	"""breast, ovarian"""		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)																													yes	Rec	yes	Hereditary breast/ovarian cancer	17	17q21	672	familial breast/ovarian cancer gene 1		E	0													73.0	68.0	70.0					17																	41246005		2203	4300	6503	SO:0001583	missense	672	Familial Cancer Database		U14680	CCDS11453.1, CCDS11454.1, CCDS11455.1, CCDS11456.1, CCDS11459.1, CCDS11455.2, CCDS11456.2, CCDS11459.2, CCDS11454.2	17q21.31	2014-09-17			ENSG00000012048	ENSG00000012048		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1100	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 1"", ""protein phosphatase 1, regulatory subunit 53"""	113705				1676470	Standard	NM_007300		Approved	RNF53, BRCC1, PPP1R53	uc002ict.3	P38398	OTTHUMG00000157426	ENST00000357654.3:c.1543G>C	17.37:g.41246005C>G	ENSP00000350283:p.Glu515Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15129|Q1RMC1|Q3LRJ0|Q3LRJ6|Q6IN79|Q7KYU9	Missense_Mutation	SNP	pirsf_BRCA1,pfam_BRCT_dom,pfam_Znf_C3HC4_RING-type,superfamily_BRCT_dom,smart_Znf_RING,smart_BRCT_dom,prints_BRCA1,pfscan_BRCT_dom,pfscan_Znf_RING	p.E515Q	ENST00000357654.3	37	c.1543	CCDS11453.1	17	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700283	0.48307	.	.	ENSG00000012048	ENST00000357654;ENST00000412061;ENST00000354071;ENST00000346315;ENST00000309486;ENST00000471181;ENST00000493795;ENST00000470026;ENST00000477152	D;D;D;D;D;D;D;D	0.97710	-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5;-4.5	4.62	4.62	0.57501	.	0.000000	0.53938	D	0.000047	D	0.99302	0.9756	H	0.98996	4.395	0.39266	D	0.964299	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.91635	0.984;0.984;0.999;0.991;0.994;0.996	D	0.98888	1.0772	10	0.87932	D	0	-14.7525	16.1808	0.81898	0.0:1.0:0.0:0.0	.	515;474;515;515;515;515	E7EMP0;E7ERL4;Q5YLB2;E9PFC7;P38398;P38398-2	.;.;.;.;BRCA1_HUMAN;.	Q	515;515;515;515;219;515;468;515;489	ENSP00000350283:E515Q;ENSP00000326002:E515Q;ENSP00000246907:E515Q;ENSP00000310938:E219Q;ENSP00000418960:E515Q;ENSP00000418775:E468Q;ENSP00000419274:E515Q;ENSP00000419988:E489Q	ENSP00000310938:E219Q	E	-	1	0	BRCA1	38499531	1.000000	0.71417	1.000000	0.80357	0.335000	0.28730	4.798000	0.62510	2.556000	0.86216	0.462000	0.41574	GAG	BRCA1	-	pirsf_BRCA1		0.388	BRCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA1	HGNC	protein_coding	OTTHUMT00000348798.2	C	NM_007294		41246005	-1	no_errors	ENST00000471181	ensembl	human	known	70_37	missense	SNP	1.000	G
BRD8	10902	genome.wustl.edu	37	5	137501639	137501639	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:137501639G>C	ENST00000254900.5	-	11	1527	c.1156C>G	c.(1156-1158)Ccc>Gcc	p.P386A	BRD8_ENST00000515014.1_5'Flank|BRD8_ENST00000402931.1_Missense_Mutation_p.P386A|BRD8_ENST00000455658.2_Missense_Mutation_p.P345A|BRD8_ENST00000411594.2_Missense_Mutation_p.P389A|BRD8_ENST00000230901.5_Missense_Mutation_p.P459A	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	386					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TCTATGCTGGGAGCCTTTGAT	0.438																																																	0													148.0	142.0	144.0					5																	137501639		2203	4300	6503	SO:0001583	missense	10902			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.1156C>G	5.37:g.137501639G>C	ENSP00000254900:p.Pro386Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.P386A	ENST00000254900.5	37	c.1156	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	G	14.54	2.564687	0.45694	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000511898	T;T;T;T;T;T;T	0.29397	1.97;1.57;1.59;1.71;1.72;1.58;1.71	5.65	5.65	0.86999	.	0.279888	0.36268	N	0.002681	T	0.23572	0.0570	N	0.04508	-0.205	0.38222	D	0.940775	P;B;B;B;B;P;P;D	0.53745	0.787;0.036;0.017;0.435;0.428;0.571;0.571;0.962	B;B;B;B;B;B;B;P	0.50162	0.295;0.03;0.012;0.081;0.154;0.163;0.167;0.633	T	0.17992	-1.0351	10	0.59425	D	0.04	-7.014	14.4815	0.67587	0.0:0.1464:0.8536:0.0	.	345;370;165;459;389;280;459;386	F8W820;B4DN43;B4DMS9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	A	386;415;384;459;386;389;280;345;5	ENSP00000254900:P386A;ENSP00000398067:P415A;ENSP00000398873:P384A;ENSP00000230901:P459A;ENSP00000384845:P386A;ENSP00000394330:P389A;ENSP00000408396:P345A	ENSP00000230901:P459A	P	-	1	0	BRD8	137529538	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	3.595000	0.54016	2.941000	0.99782	0.655000	0.94253	CCC	BRD8	-	NULL		0.438	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	G	NM_006696		137501639	-1	no_errors	ENST00000254900	ensembl	human	known	70_37	missense	SNP	1.000	C
BRDT	676	genome.wustl.edu	37	1	92441964	92441964	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:92441964C>T	ENST00000362005.3	+	6	1005	c.587C>T	c.(586-588)tCa>tTa	p.S196L	BRDT_ENST00000399546.2_Missense_Mutation_p.S196L|BRDT_ENST00000370389.2_Missense_Mutation_p.S123L|BRDT_ENST00000394530.3_Missense_Mutation_p.S150L|BRDT_ENST00000402388.1_Missense_Mutation_p.S196L	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	196					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CAGGGAGCTTCAGTCAACTCC	0.368																																																	0													72.0	68.0	70.0					1																	92441964		2203	4300	6503	SO:0001583	missense	676			AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.587C>T	1.37:g.92441964C>T	ENSP00000354568:p.Ser196Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.S196L	ENST00000362005.3	37	c.587	CCDS735.1	1	.	.	.	.	.	.	.	.	.	.	C	11.06	1.526671	0.27299	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000539070;ENST00000394530;ENST00000440509;ENST00000426141;ENST00000402388	T;T;T;T;T;T;T	0.19532	3.26;3.28;3.26;3.33;2.14;2.94;3.26	4.81	-0.35	0.12606	.	0.709364	0.13483	N	0.384514	T	0.05318	0.0141	L	0.39898	1.24	0.09310	N	1	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.04013	0.0;0.0;0.001;0.001	T	0.38908	-0.9639	10	0.37606	T	0.19	0.0023	7.7546	0.28917	0.0:0.5408:0.0:0.4592	.	150;150;200;196	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	L	196;123;196;196;150;196;196;196	ENSP00000354568:S196L;ENSP00000359416:S123L;ENSP00000387822:S196L;ENSP00000378038:S150L;ENSP00000416714:S196L;ENSP00000404969:S196L;ENSP00000384051:S196L	ENSP00000354568:S196L	S	+	2	0	BRDT	92214552	0.006000	0.16342	0.000000	0.03702	0.043000	0.13939	0.130000	0.15850	-0.262000	0.09392	-0.300000	0.09419	TCA	BRDT	-	NULL		0.368	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRDT	HGNC	protein_coding	OTTHUMT00000027980.2	C	NM_207189		92441964	+1	no_errors	ENST00000362005	ensembl	human	known	70_37	missense	SNP	0.042	T
BSN	8927	genome.wustl.edu	37	3	49695041	49695041	+	Silent	SNP	C	C	G	rs557287227		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49695041C>G	ENST00000296452.4	+	5	8166	c.8052C>G	c.(8050-8052)gtC>gtG	p.V2684V		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2684					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TGCCCAGGGTCTCTCCAGCCA	0.627																																																	0													41.0	43.0	42.0					3																	49695041		2203	4297	6500	SO:0001819	synonymous_variant	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.8052C>G	3.37:g.49695041C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O43161|Q7LGH3	Silent	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.V2684	ENST00000296452.4	37	c.8052	CCDS2800.1	3																																																																																			BSN	-	NULL		0.627	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	C	NM_003458		49695041	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	silent	SNP	1.000	G
BSN	8927	genome.wustl.edu	37	3	49701229	49701229	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49701229G>A	ENST00000296452.4	+	8	11632	c.11518G>A	c.(11518-11520)Gaa>Aaa	p.E3840K		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3840					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCCACGGGCAGAACAGACAAA	0.567																																																	0													118.0	106.0	110.0					3																	49701229		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.11518G>A	3.37:g.49701229G>A	ENSP00000296452:p.Glu3840Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E3840K	ENST00000296452.4	37	c.11518	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	12.90	2.076752	0.36662	.	.	ENSG00000164061	ENST00000296452	T	0.17854	2.25	4.81	4.81	0.61882	.	0.217794	0.36893	N	0.002353	T	0.14960	0.0361	L	0.47716	1.5	0.33955	D	0.644868	B	0.27498	0.18	B	0.24701	0.055	T	0.12578	-1.0542	10	0.36615	T	0.2	-7.5013	9.2054	0.37287	0.1:0.0:0.9:0.0	.	3840	Q9UPA5	BSN_HUMAN	K	3840	ENSP00000296452:E3840K	ENSP00000296452:E3840K	E	+	1	0	BSN	49676233	1.000000	0.71417	0.998000	0.56505	0.922000	0.55478	3.556000	0.53734	2.222000	0.72286	0.462000	0.41574	GAA	BSN	-	NULL		0.567	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49701229	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	0.954	A
BTN2A1	11120	genome.wustl.edu	37	6	26465472	26465472	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:26465472C>T	ENST00000312541.5	+	5	1020	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L	BTN2A1_ENST00000541522.1_Silent_p.L197L|BTN2A1_ENST00000429381.1_Silent_p.L258L|BTN2A1_ENST00000469185.1_Silent_p.L258L	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	258					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTGGTTATTCTGATGATACC	0.428																																																	0													158.0	156.0	156.0					6																	26465472		2203	4300	6503	SO:0001819	synonymous_variant	11120			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.772C>T	6.37:g.26465472C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Silent	SNP	pfam_SPRY_rcpt,pfam_Ig_V-set,pfam_CD80_C2-set,superfamily_ConA-like_lec_gl_sf,smart_Ig_sub,smart_Ig_V-set_subgr,smart_PRY,smart_SPla/RYanodine_receptor_subgr,prints_Butyrophylin,pfscan_B30.2/SPRY,pfscan_Ig-like	p.L258	ENST00000312541.5	37	c.772	CCDS4613.1	6																																																																																			BTN2A1	-	NULL		0.428	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BTN2A1	HGNC	protein_coding	OTTHUMT00000040122.2	C	NM_007049		26465472	+1	no_errors	ENST00000312541	ensembl	human	known	70_37	silent	SNP	0.036	T
BZW2	28969	genome.wustl.edu	37	7	16736606	16736606	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:16736606C>T	ENST00000433922.2	+	9	1067	c.889C>T	c.(889-891)Ctg>Ttg	p.L297L	BZW2_ENST00000258761.3_Silent_p.L297L|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000405202.1_Silent_p.L221L|BZW2_ENST00000452975.2_3'UTR|BZW2_ENST00000407633.1_Silent_p.L103L|BZW2_ENST00000432311.1_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	297	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		GATTGGTCTTCTGTGGACATG	0.433																																																	0													149.0	138.0	142.0					7																	16736606		2203	4300	6503	SO:0001819	synonymous_variant	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.889C>T	7.37:g.16736606C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D123|Q3B779|Q96JW5|Q9H3F7	Silent	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.L297	ENST00000433922.2	37	c.889	CCDS5362.1	7																																																																																			BZW2	-	superfamily_ARM-type_fold		0.433	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	C	NM_014038		16736606	+1	no_errors	ENST00000258761	ensembl	human	known	70_37	silent	SNP	1.000	T
BZW2	28969	genome.wustl.edu	37	7	16737784	16737784	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:16737784C>T	ENST00000433922.2	+	10	1259	c.1081C>T	c.(1081-1083)Cag>Tag	p.Q361*	BZW2_ENST00000258761.3_Nonsense_Mutation_p.Q361*|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000405202.1_Nonsense_Mutation_p.Q285*|BZW2_ENST00000407633.1_Nonsense_Mutation_p.Q167*	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	361	W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	membrane (GO:0016020)				cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		GAAAGCCTTTCAGAAGATTGT	0.493																																																	0													160.0	155.0	157.0					7																	16737784		2203	4300	6503	SO:0001587	stop_gained	28969			AF083246	CCDS5362.1	7p21.3	2008-07-18			ENSG00000136261	ENSG00000136261			18808	protein-coding gene	gene with protein product						11042152	Standard	NM_001159767		Approved	HSPC028, MST017, MSTP017	uc003stj.2	Q9Y6E2	OTTHUMG00000130755	ENST00000433922.2:c.1081C>T	7.37:g.16737784C>T	ENSP00000397249:p.Gln361*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D123|Q3B779|Q96JW5|Q9H3F7	Nonsense_Mutation	SNP	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain	p.Q361*	ENST00000433922.2	37	c.1081	CCDS5362.1	7	.	.	.	.	.	.	.	.	.	.	C	38	6.871691	0.97901	.	.	ENSG00000136261	ENST00000415365;ENST00000258761;ENST00000433922;ENST00000405202;ENST00000407633	.	.	.	6.17	6.17	0.99709	.	0.259482	0.33610	N	0.004726	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-16.5888	20.8794	0.99867	0.0:1.0:0.0:0.0	.	.	.	.	X	361;361;361;285;167	.	ENSP00000258761:Q361X	Q	+	1	0	BZW2	16704309	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.851000	0.69481	2.941000	0.99782	0.655000	0.94253	CAG	BZW2	-	pfam_W2_domain,superfamily_ARM-type_fold,smart_W2_domain		0.493	BZW2-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BZW2	HGNC	protein_coding	OTTHUMT00000253256.2	C	NM_014038		16737784	+1	no_errors	ENST00000258761	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ACSM6	142827	genome.wustl.edu	37	10	96974621	96974621	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:96974621G>C	ENST00000394005.3	+	7	1017	c.1008G>C	c.(1006-1008)aaG>aaC	p.K336N	C10orf129_ENST00000341686.3_Missense_Mutation_p.K336N|C10orf129_ENST00000430183.1_Intron			Q6P461	ACSM6_HUMAN		336					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		ACAGATTCAAGAGTCTGAAGC	0.463																																																	0													73.0	74.0	73.0					10																	96974621		692	1591	2283	SO:0001583	missense	142827																														ENST00000394005.3:c.1008G>C	10.37:g.96974621G>C	ENSP00000377573:p.Lys336Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K336N	ENST00000394005.3	37	c.1008	CCDS7440.2	10	.	.	.	.	.	.	.	.	.	.	G	13.07	2.127410	0.37533	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	T;T	0.10573	2.86;2.86	0.885	0.885	0.19188	AMP-dependent synthetase/ligase (1);	.	.	.	.	T	0.07863	0.0197	L	0.38175	1.15	0.80722	D	1	B	0.30236	0.274	B	0.29663	0.105	T	0.29671	-1.0004	9	0.28530	T	0.3	.	7.771	0.29008	0.0:0.0:1.0:0.0	.	336	Q6P461	ACSM6_HUMAN	N	362;336;336	ENSP00000340296:K336N;ENSP00000377573:K336N	ENSP00000340296:K336N	K	+	3	2	C10orf129	96964611	0.980000	0.34600	0.813000	0.32504	0.963000	0.63663	0.562000	0.23531	0.814000	0.34374	0.447000	0.29281	AAG	C10orf129	-	pfam_AMP-dep_Synth/Lig		0.463	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf129	HGNC	protein_coding	OTTHUMT00000049506.2	G			96974621	+1	no_errors	ENST00000341686	ensembl	human	known	70_37	missense	SNP	1.000	C
ACSM6	142827	genome.wustl.edu	37	10	96974727	96974727	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:96974727G>A	ENST00000394005.3	+	7	1123	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	C10orf129_ENST00000341686.3_Missense_Mutation_p.E372K|C10orf129_ENST00000430183.1_Intron			Q6P461	ACSM6_HUMAN		372					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		TGGGCAGACGGAAACTGTAGG	0.493																																																	0													130.0	127.0	128.0					10																	96974727		692	1591	2283	SO:0001583	missense	142827																														ENST00000394005.3:c.1114G>A	10.37:g.96974727G>A	ENSP00000377573:p.Glu372Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU95|A4IF38|Q5VZX2|Q6ZTX1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E372K	ENST00000394005.3	37	c.1114	CCDS7440.2	10	.	.	.	.	.	.	.	.	.	.	G	19.70	3.875757	0.72180	.	.	ENSG00000173124	ENST00000539707;ENST00000341686;ENST00000394005	D;D	0.81499	-1.5;-1.5	0.885	-1.77	0.07982	AMP-dependent synthetase/ligase (1);	.	.	.	.	D	0.87301	0.6143	M	0.88512	2.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82165	-0.0592	9	0.87932	D	0	.	3.0369	0.06126	0.2016:0.0:0.5428:0.2557	.	372	Q6P461	ACSM6_HUMAN	K	398;372;372	ENSP00000340296:E372K;ENSP00000377573:E372K	ENSP00000340296:E372K	E	+	1	0	C10orf129	96964717	1.000000	0.71417	0.056000	0.19401	0.931000	0.56810	3.301000	0.51842	-0.590000	0.05866	0.447000	0.29281	GAA	C10orf129	-	pfam_AMP-dep_Synth/Lig		0.493	C10orf129-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf129	HGNC	protein_coding	OTTHUMT00000049506.2	G			96974727	+1	no_errors	ENST00000341686	ensembl	human	known	70_37	missense	SNP	0.977	A
C10orf25	220979	genome.wustl.edu	37	10	45496289	45496289	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:45496289C>T	ENST00000298298.1	-	1	47	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	ZNF22_ENST00000298299.3_5'UTR|CEP164P1_ENST00000456938.2_RNA	NM_001039380.2	NP_001034469.2	Q5T742	CJ025_HUMAN	chromosome 10 open reading frame 25	7						extracellular region (GO:0005576)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6						ACAACGCTTTCGGGTGGGCCC	0.667																																																	0													13.0	14.0	13.0					10																	45496289		2190	4266	6456	SO:0001583	missense	220979			AK055129	CCDS31187.1	10q11.21	2003-11-21			ENSG00000165511	ENSG00000165511			23509	protein-coding gene	gene with protein product							Standard	NM_001039380		Approved	FLJ30567	uc001jbv.2	Q5T742	OTTHUMG00000018066	ENST00000298298.1:c.19G>A	10.37:g.45496289C>T	ENSP00000298298:p.Glu7Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L424|Q96NM5	Missense_Mutation	SNP	NULL	p.E7K	ENST00000298298.1	37	c.19	CCDS31187.1	10	.	.	.	.	.	.	.	.	.	.	C	10.48	1.362170	0.24684	.	.	ENSG00000165511	ENST00000298298	T	0.37752	1.18	2.66	1.69	0.24217	.	.	.	.	.	T	0.34279	0.0892	N	0.08118	0	0.23720	N	0.997023	D	0.89917	1.0	D	0.70227	0.968	T	0.14117	-1.0484	9	0.87932	D	0	.	7.0617	0.25129	0.0:0.6954:0.3046:0.0	.	7	Q5T742	CJ025_HUMAN	K	7	ENSP00000298298:E7K	ENSP00000298298:E7K	E	-	1	0	C10orf25	44816295	0.000000	0.05858	0.003000	0.11579	0.011000	0.07611	-0.136000	0.10405	0.629000	0.30376	0.563000	0.77884	GAA	C10orf25	-	NULL		0.667	C10orf25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf25	HGNC	protein_coding	OTTHUMT00000047763.1	C	NM_145022		45496289	-1	no_errors	ENST00000298298	ensembl	human	known	70_37	missense	SNP	0.004	T
C10orf2	56652	genome.wustl.edu	37	10	102749583	102749583	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:102749583G>A	ENST00000311916.2	+	2	1611	c.1426G>A	c.(1426-1428)Gac>Aac	p.D476N	MRPL43_ENST00000370236.1_5'Flank|MRPL43_ENST00000342071.1_5'Flank|MRPL43_ENST00000318364.8_5'Flank|C10orf2_ENST00000473656.1_3'UTR|MRPL43_ENST00000318325.2_5'Flank|C10orf2_ENST00000370228.1_Missense_Mutation_p.D476N|MRPL43_ENST00000493646.1_5'Flank|MRPL43_ENST00000299179.5_5'Flank|MRPL43_ENST00000370241.3_5'Flank|MRPL43_ENST00000370242.4_5'Flank|MRPL43_ENST00000477279.1_5'Flank|MRPL43_ENST00000370234.4_5'Flank	NM_001163813.1|NM_021830.4	NP_001157285.1|NP_068602.2	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	476	SF4 helicase. {ECO:0000255|PROSITE- ProRule:PRU00596}.				cell death (GO:0008219)|DNA unwinding involved in DNA replication (GO:0006268)|mitochondrial DNA replication (GO:0006264)|protein hexamerization (GO:0034214)|protein homooligomerization (GO:0051260)|transcription from mitochondrial promoter (GO:0006390)	mitochondrial nucleoid (GO:0042645)	5'-3' DNA helicase activity (GO:0043139)|ATP binding (GO:0005524)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCACTGGGCTGACCGCTTTGA	0.522																																																	0													142.0	140.0	140.0					10																	102749583		2203	4300	6503	SO:0001583	missense	56652			AF292004	CCDS7506.1, CCDS53570.1	10q24	2013-05-13			ENSG00000107815	ENSG00000107815			1160	protein-coding gene	gene with protein product	"""twinkle"", ""T7 helicase-related protein with intramitochondrial nucleoid localization"""	606075	"""infantile onset spinocerebellar ataxia (autosomal recessive)"""	IOSCA		11431692, 10645945, 16135556	Standard	NM_021830		Approved	PEO, PEO1, TWINKLE, FLJ21832, TWINL	uc001ksf.2	Q96RR1	OTTHUMG00000018917	ENST00000311916.2:c.1426G>A	10.37:g.102749583G>A	ENSP00000309595:p.Asp476Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2CQL2|Q6MZX2|Q6PJP5|Q96RR0	Missense_Mutation	SNP	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C	p.D476N	ENST00000311916.2	37	c.1426	CCDS7506.1	10	.	.	.	.	.	.	.	.	.	.	G	26.7	4.766574	0.90020	.	.	ENSG00000107815	ENST00000311916;ENST00000370228	T;D	0.94000	-0.3;-3.33	6.04	6.04	0.98038	Circadian clock protein KaiC/DNA repair protein RadA (1);DNA helicase, DnaB-like, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.96303	0.8794	M	0.68317	2.08	0.58432	D	0.999999	D;P	0.89917	1.0;0.941	D;P	0.87578	0.998;0.84	D	0.95167	0.8286	10	0.41790	T	0.15	-21.4512	19.1729	0.93588	0.0:0.0:1.0:0.0	.	476;476	Q96RR1-2;Q96RR1	.;PEO1_HUMAN	N	476	ENSP00000309595:D476N;ENSP00000359248:D476N	ENSP00000309595:D476N	D	+	1	0	C10orf2	102739573	1.000000	0.71417	0.997000	0.53966	0.763000	0.43281	7.990000	0.88215	2.873000	0.98535	0.563000	0.77884	GAC	C10orf2	-	pfam_Circ_KaiC/RadA,pfam_DNA_helicase_DnaB-like_C,pfscan_DNA_helicase_DnaB-like_C		0.522	C10orf2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C10orf2	HGNC	protein_coding	OTTHUMT00000049886.1	G	NM_021830		102749583	+1	no_errors	ENST00000311916	ensembl	human	known	70_37	missense	SNP	1.000	A
PLET1	349633	genome.wustl.edu	37	11	112126250	112126250	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:112126250C>T	ENST00000338832.2	-	2	517	c.247G>A	c.(247-249)Gac>Aac	p.D83N		NM_001145024.1	NP_001138496.1	Q6UQ28	PLET1_HUMAN		83					cell differentiation (GO:0030154)|negative regulation of cell-matrix adhesion (GO:0001953)|positive regulation of cell migration (GO:0030335)|wound healing, spreading of epidermal cells (GO:0035313)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)				endometrium(2)	2						CCCGCTGAGTCACTGTTCTCG	0.468																																																	0													121.0	95.0	103.0					11																	112126250		692	1591	2283	SO:0001583	missense	349633																														ENST00000338832.2:c.247G>A	11.37:g.112126250C>T	ENSP00000341412:p.Asp83Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UQ24|Q6UQ25|Q6UQ27	Missense_Mutation	SNP	NULL	p.D83N	ENST00000338832.2	37	c.247		11	.	.	.	.	.	.	.	.	.	.	C	0.859	-0.735933	0.03111	.	.	ENSG00000188771	ENST00000338832;ENST00000527122	T;T	0.41400	1.0;1.0	4.46	0.629	0.17687	.	1.913480	0.02267	N	0.068099	T	0.16769	0.0403	N	0.02539	-0.55	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.24977	-1.0145	10	0.06625	T	0.88	.	4.5826	0.12266	0.0:0.1102:0.3932:0.4965	.	83	Q6UQ28	PLET1_HUMAN	N	83	ENSP00000341412:D83N;ENSP00000433513:D83N	ENSP00000341412:D83N	D	-	1	0	C11orf34	111631460	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.362000	0.20284	-0.046000	0.13446	-0.322000	0.08575	GAC	C11orf34	-	NULL		0.468	C11orf34-201	KNOWN	basic|appris_principal	protein_coding	C11orf34	HGNC	protein_coding		C			112126250	-1	no_errors	ENST00000338832	ensembl	human	known	70_37	missense	SNP	0.000	T
C12orf56	115749	genome.wustl.edu	37	12	64664437	64664437	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:64664437G>C	ENST00000543942.2	-	12	2268	c.1642C>G	c.(1642-1644)Cag>Gag	p.Q548E	C12orf56_ENST00000536975.1_5'UTR|C12orf56_ENST00000333722.5_Missense_Mutation_p.Q388E|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	548										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		CTTAGCAGCTGAAATGAAGCT	0.458																																																	0													82.0	76.0	78.0					12																	64664437		1879	4129	6008	SO:0001583	missense	115749				CCDS44935.1, CCDS61182.1	12q14.2	2012-08-15			ENSG00000185306	ENSG00000185306			26967	protein-coding gene	gene with protein product							Standard	NM_001099676		Approved		uc021qzu.1	Q8IXR9	OTTHUMG00000168782	ENST00000543942.2:c.1642C>G	12.37:g.64664437G>C	ENSP00000446101:p.Gln548Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.Q388E	ENST00000543942.2	37	c.1162		12	.	.	.	.	.	.	.	.	.	.	G	0.015	-1.551397	0.00918	.	.	ENSG00000185306	ENST00000333722;ENST00000543942;ENST00000433716	.	.	.	5.19	5.19	0.71726	.	0.423636	0.24764	N	0.035794	T	0.48390	0.1497	M	0.63428	1.95	0.24809	N	0.99265	B;P	0.36837	0.341;0.571	B;B	0.39027	0.215;0.288	T	0.47947	-0.9077	8	.	.	.	-5.1785	14.4315	0.67254	0.0:0.0:1.0:0.0	.	388;551	Q8IXR9-2;Q8IXR9	.;CL056_HUMAN	E	388;549;551	.	.	Q	-	1	0	C12orf56	62950704	0.984000	0.35163	0.906000	0.35671	0.005000	0.04900	3.940000	0.56599	2.873000	0.98535	0.563000	0.77884	CAG	C12orf56	-	NULL		0.458	C12orf56-008	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	C12orf56	HGNC	protein_coding	OTTHUMT00000401058.2	G	NM_001099676		64664437	-1	no_errors	ENST00000333722	ensembl	human	known	70_37	missense	SNP	0.777	C
C14orf37	145407	genome.wustl.edu	37	14	58605892	58605892	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:58605892G>A	ENST00000267485.7	-	2	379	c.185C>T	c.(184-186)tCa>tTa	p.S62L	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	62						integral component of membrane (GO:0016021)				breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGTCTGCTTTGAGGTAACAGA	0.433																																																	0													235.0	234.0	234.0					14																	58605892		2203	4300	6503	SO:0001583	missense	145407				CCDS32089.1	14q23.1	2012-09-03			ENSG00000139971	ENSG00000139971			19846	protein-coding gene	gene with protein product							Standard	NM_001001872		Approved		uc001xdc.3	Q86TY3	OTTHUMG00000171173	ENST00000267485.7:c.185C>T	14.37:g.58605892G>A	ENSP00000267485:p.Ser62Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Z8|Q6P5Q1|Q86TY1	Missense_Mutation	SNP	NULL	p.S62L	ENST00000267485.7	37	c.185	CCDS32089.1	14	.	.	.	.	.	.	.	.	.	.	G	29.0	4.966702	0.92855	.	.	ENSG00000139971	ENST00000267485;ENST00000438670	T	0.22945	1.93	5.42	5.42	0.78866	.	0.766887	0.11573	N	0.550615	T	0.48333	0.1494	L	0.57536	1.79	0.28672	N	0.905552	D;D;D;D	0.76494	0.996;0.999;0.996;0.996	P;D;P;P	0.65443	0.856;0.935;0.856;0.856	T	0.39396	-0.9616	10	0.54805	T	0.06	-1.1988	15.9513	0.79840	0.0:0.0:1.0:0.0	.	100;62;62;62	B4DMS4;Q86TY3-2;A8K990;Q86TY3	.;.;.;CN037_HUMAN	L	62;100	ENSP00000267485:S62L	ENSP00000267485:S62L	S	-	2	0	C14orf37	57675645	0.998000	0.40836	0.461000	0.27105	0.752000	0.42762	3.787000	0.55439	2.559000	0.86315	0.655000	0.94253	TCA	C14orf37	-	NULL		0.433	C14orf37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C14orf37	HGNC	protein_coding	OTTHUMT00000412059.1	G	NM_001001872		58605892	-1	no_errors	ENST00000267485	ensembl	human	known	70_37	missense	SNP	0.969	A
C14orf2	9556	genome.wustl.edu	37	14	104380302	104380302	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:104380302C>T	ENST00000554880.1	-	3	297	c.144G>A	c.(142-144)ttG>ttA	p.L48L	C14orf2_ENST00000557040.1_Silent_p.L48L|C14orf2_ENST00000555030.1_Silent_p.*100*|C14orf2_ENST00000414262.2_Silent_p.L65L|C14orf2_ENST00000553430.1_Silent_p.L48L|C14orf2_ENST00000286953.3_Silent_p.L48L|C14orf2_ENST00000554713.1_Silent_p.*100*|C14orf2_ENST00000553449.1_5'UTR			P56378	68MP_HUMAN	chromosome 14 open reading frame 2	48						integral component of membrane (GO:0016021)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)				kidney(1)	1				Epithelial(152;0.223)		TCTTACCTTTCAAAGCCTTAC	0.313																																																	0													71.0	61.0	65.0					14																	104380302		2201	4299	6500	SO:0001819	synonymous_variant	9556			AF054175	CCDS9986.1, CCDS45169.1	14q32.33	2013-02-18			ENSG00000156411	ENSG00000156411			1188	protein-coding gene	gene with protein product	"""6.8 kDa mitochondrial proteolipid"""	604573				9653160	Standard	NM_001127393		Approved	MP68	uc001yoi.4	P56378	OTTHUMG00000171601	ENST00000554880.1:c.144G>A	14.37:g.104380302C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R588|G3V5Q3|Q86TT7	Silent	SNP	pfam_Mit_proteolip	p.L65	ENST00000554880.1	37	c.195	CCDS9986.1	14																																																																																			C14orf2	-	pfam_Mit_proteolip		0.313	C14orf2-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf2	HGNC	protein_coding	OTTHUMT00000414398.1	C	NM_001127393		104380302	-1	no_errors	ENST00000414262	ensembl	human	known	70_37	silent	SNP	0.905	T
C15orf56	644809	genome.wustl.edu	37	15	40544515	40544515	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:40544515G>T	ENST00000319503.3	-	2	478	c.457C>A	c.(457-459)Cgc>Agc	p.R153S	C15orf56_ENST00000559727.1_3'UTR|PAK6_ENST00000453867.1_Intron|PAK6_ENST00000560346.1_Intron|PAK6_ENST00000260404.4_Intron|PAK6_ENST00000441369.1_Intron|PAK6_ENST00000455577.2_Intron|PAK6_ENST00000542403.2_5'Flank|RP11-133K1.2_ENST00000558658.1_Intron	NM_001039905.1	NP_001034994.1	Q8N910	CO056_HUMAN	chromosome 15 open reading frame 56	153										lung(1)	1		all_cancers(109;1.62e-14)|all_epithelial(112;7.09e-12)|Lung NSC(122;3.4e-09)|all_lung(180;6.88e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.28e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0503)		GGGTCTCCGCGAGGCGGCCAC	0.711																																																	0													5.0	6.0	6.0					15																	40544515		1989	3955	5944	SO:0001583	missense	644809				CCDS32197.1	15q15.1	2012-05-30			ENSG00000176753	ENSG00000176753			33868	protein-coding gene	gene with protein product							Standard	NM_001039905		Approved	FLJ38596	uc001zla.2	Q8N910	OTTHUMG00000172399	ENST00000319503.3:c.457C>A	15.37:g.40544515G>T	ENSP00000315794:p.Arg153Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R153S	ENST00000319503.3	37	c.457	CCDS32197.1	15	.	.	.	.	.	.	.	.	.	.	G	11.91	1.780706	0.31502	.	.	ENSG00000176753	ENST00000319503	T	0.30714	1.52	3.58	0.514	0.17007	.	.	.	.	.	T	0.12178	0.0296	N	0.08118	0	0.09310	N	1	P	0.41748	0.761	B	0.35240	0.198	T	0.14008	-1.0488	9	0.87932	D	0	.	3.2861	0.06932	0.258:0.2252:0.5168:0.0	.	153	Q8N910	CO056_HUMAN	S	153	ENSP00000315794:R153S	ENSP00000315794:R153S	R	-	1	0	C15orf56	38331807	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.023000	0.13533	0.301000	0.22738	0.462000	0.41574	CGC	C15orf56	-	NULL		0.711	C15orf56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C15orf56	HGNC	protein_coding	OTTHUMT00000418370.2	G	NM_001039905		40544515	-1	no_errors	ENST00000319503	ensembl	human	known	70_37	missense	SNP	0.000	T
C16orf71	146562	genome.wustl.edu	37	16	4786568	4786568	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:4786568C>T	ENST00000299320.5	+	2	531	c.53C>T	c.(52-54)tCc>tTc	p.S18F	ANKS3_ENST00000450067.2_5'Flank|ANKS3_ENST00000304283.4_5'Flank|C16orf71_ENST00000590191.1_Missense_Mutation_p.S18F|ANKS3_ENST00000592711.1_5'Flank|ANKS3_ENST00000585773.1_5'Flank|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	18										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCCTGGGCCTCCCAGATGGGG	0.597																																																	0													63.0	64.0	64.0					16																	4786568		2197	4300	6497	SO:0001583	missense	146562			AF447587	CCDS10521.1	16p13.3	2008-02-05			ENSG00000166246	ENSG00000166246			25081	protein-coding gene	gene with protein product						12477932	Standard	XM_005255144		Approved	FLJ43261, DKFZp686H2240	uc002cxn.3	Q8IYS4	OTTHUMG00000129480	ENST00000299320.5:c.53C>T	16.37:g.4786568C>T	ENSP00000299320:p.Ser18Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NCV0	Missense_Mutation	SNP	NULL	p.S18F	ENST00000299320.5	37	c.53	CCDS10521.1	16	.	.	.	.	.	.	.	.	.	.	C	12.43	1.934867	0.34189	.	.	ENSG00000166246	ENST00000299320	T	0.14391	2.51	1.47	1.47	0.22746	.	1.060720	0.07566	U	0.917740	T	0.24353	0.0590	L	0.43152	1.355	0.09310	N	1	D	0.61697	0.99	D	0.64237	0.923	T	0.29181	-1.0020	10	0.30078	T	0.28	.	8.4036	0.32601	0.0:1.0:0.0:0.0	.	18	Q8IYS4	CP071_HUMAN	F	18	ENSP00000299320:S18F	ENSP00000299320:S18F	S	+	2	0	C16orf71	4726569	0.267000	0.24122	0.289000	0.24876	0.092000	0.18411	0.681000	0.25320	1.164000	0.42652	0.561000	0.74099	TCC	C16orf71	-	NULL		0.597	C16orf71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf71	HGNC	protein_coding	OTTHUMT00000251644.1	C	NM_139170		4786568	+1	no_errors	ENST00000299320	ensembl	human	known	70_37	missense	SNP	0.076	T
C16orf45	89927	genome.wustl.edu	37	16	15675126	15675126	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:15675126G>T	ENST00000300006.4	+	4	716	c.357G>T	c.(355-357)aaG>aaT	p.K119N	C16orf45_ENST00000566490.1_Missense_Mutation_p.K119N|C16orf45_ENST00000452191.2_Missense_Mutation_p.K102N|C16orf45_ENST00000565913.1_3'UTR|C16orf45_ENST00000561692.1_Missense_Mutation_p.K71N	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	119										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						TAATCCAGAAGATCCACAAAC	0.507																																																	0													99.0	86.0	91.0					16																	15675126		2197	4300	6497	SO:0001583	missense	89927			AK057180	CCDS10561.1, CCDS45422.1	16p13.2	2012-10-09			ENSG00000166780	ENSG00000166780			19213	protein-coding gene	gene with protein product							Standard	NM_033201		Approved	FLJ32618	uc002ddo.3	Q96MC5	OTTHUMG00000129883	ENST00000300006.4:c.357G>T	16.37:g.15675126G>T	ENSP00000300006:p.Lys119Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O00223|O75769|Q8IZ36|Q96H25	Missense_Mutation	SNP	pfam_DUF3585	p.K119N	ENST00000300006.4	37	c.357	CCDS10561.1	16	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935565	0.92458	.	.	ENSG00000166780	ENST00000300006;ENST00000452191	T;T	0.47869	0.83;0.83	5.33	5.33	0.75918	Domain of unknown function DUF3585 (1);	0.133832	0.64402	D	0.000002	T	0.66538	0.2799	L	0.59436	1.845	0.80722	D	1	D;D	0.76494	0.999;0.992	D;P	0.74674	0.984;0.868	T	0.68394	-0.5420	10	0.66056	D	0.02	-19.3209	18.5993	0.91242	0.0:0.0:1.0:0.0	.	63;119	B4DE25;Q96MC5	.;CP045_HUMAN	N	119;102	ENSP00000300006:K119N;ENSP00000408976:K102N	ENSP00000300006:K119N	K	+	3	2	C16orf45	15582627	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.175000	0.58263	2.499000	0.84300	0.655000	0.94253	AAG	C16orf45	-	pfam_DUF3585		0.507	C16orf45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf45	HGNC	protein_coding	OTTHUMT00000252130.2	G	NM_033201		15675126	+1	no_errors	ENST00000300006	ensembl	human	known	70_37	missense	SNP	1.000	T
KNOP1	400506	genome.wustl.edu	37	16	19725832	19725832	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:19725832C>A	ENST00000219837.7	-	2	604	c.526G>T	c.(526-528)Gag>Tag	p.E176*	AC002550.5_ENST00000565916.1_RNA|KNOP1_ENST00000568230.1_5'Flank|IQCK_ENST00000320394.6_5'Flank	NM_001012991.2	NP_001013009.2	Q1ED39	KNOP1_HUMAN	lysine-rich nucleolar protein 1	176	Lys-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)										TCCCTGGCCTCCCTGGCCTCA	0.567																																																	0													62.0	67.0	66.0					16																	19725832		2162	4289	6451	SO:0001587	stop_gained	400506			BC047010	CCDS42127.1	16p12.3	2013-03-12	2013-03-12	2013-03-12	ENSG00000103550	ENSG00000103550			34404	protein-coding gene	gene with protein product	"""family with sequence similarity 191, member A"", ""testis-specific gene 118"""		"""chromosome 16 open reading frame 88"""	C16orf88			Standard	NM_001012991		Approved	101F10.1, FAM191A, TSG118	uc002dgq.3	Q1ED39		ENST00000219837.7:c.526G>T	16.37:g.19725832C>A	ENSP00000219837:p.Glu176*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43328|Q5FWF3	Nonsense_Mutation	SNP	NULL	p.E176*	ENST00000219837.7	37	c.526	CCDS42127.1	16	.	.	.	.	.	.	.	.	.	.	C	15.09	2.729407	0.48833	.	.	ENSG00000103550	ENST00000219837	.	.	.	4.05	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-18.0818	6.4375	0.21831	0.0:0.7798:0.0:0.2202	.	.	.	.	X	176	.	.	E	-	1	0	C16orf88	19633333	0.015000	0.18098	0.019000	0.16419	0.113000	0.19764	0.873000	0.28052	0.668000	0.31126	0.561000	0.74099	GAG	C16orf88	-	NULL		0.567	KNOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf88	HGNC	protein_coding	OTTHUMT00000435993.2	C	NM_001012991		19725832	-1	no_errors	ENST00000219837	ensembl	human	known	70_37	nonsense	SNP	0.020	A
C16orf74	404550	genome.wustl.edu	37	16	85743872	85743872	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:85743872C>T	ENST00000284245.4	-	3	253	c.70G>A	c.(70-72)Gag>Aag	p.E24K	C16orf74_ENST00000602675.1_5'UTR|C16orf74_ENST00000602766.1_5'UTR|C16orf74_ENST00000602914.1_Intron|C16orf74_ENST00000602583.1_Missense_Mutation_p.E12K|C16orf74_ENST00000602719.1_Missense_Mutation_p.E24K|C16orf74_ENST00000602758.1_Intron	NM_206967.2	NP_996850.1	Q96GX8	CP074_HUMAN	chromosome 16 open reading frame 74	24																	ACGGGGGCCTCGTCGTGGCTG	0.627																																																	0													11.0	15.0	14.0					16																	85743872		2147	4244	6391	SO:0001583	missense	404550			BC009078	CCDS45540.1	16q24.1	2014-05-28			ENSG00000154102	ENSG00000154102			23362	protein-coding gene	gene with protein product							Standard	NM_206967		Approved	MGC17624	uc002fjc.4	Q96GX8	OTTHUMG00000183875	ENST00000284245.4:c.70G>A	16.37:g.85743872C>T	ENSP00000284245:p.Glu24Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E24K	ENST00000284245.4	37	c.70	CCDS45540.1	16	.	.	.	.	.	.	.	.	.	.	C	22.5	4.303830	0.81136	.	.	ENSG00000154102	ENST00000284245	.	.	.	4.85	3.87	0.44632	.	0.113269	0.39210	N	0.001435	T	0.55970	0.1954	.	.	.	0.31727	N	0.637595	D	0.71674	0.998	P	0.54706	0.759	T	0.65487	-0.6156	8	0.59425	D	0.04	-27.7897	10.9487	0.47317	0.0:0.8098:0.1902:0.0	.	24	Q96GX8	CP074_HUMAN	K	24	.	ENSP00000284245:E24K	E	-	1	0	C16orf74	84301373	0.947000	0.32204	0.981000	0.43875	0.926000	0.56050	1.995000	0.40767	0.993000	0.38866	0.561000	0.74099	GAG	C16orf74	-	NULL		0.627	C16orf74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf74	HGNC	protein_coding	OTTHUMT00000467253.1	C	NM_206967		85743872	-1	no_errors	ENST00000284245	ensembl	human	known	70_37	missense	SNP	0.972	T
C17orf50	146853	genome.wustl.edu	37	17	34091109	34091109	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:34091109G>A	ENST00000285023.4	+	2	129	c.97G>A	c.(97-99)Gag>Aag	p.E33K	C17orf50_ENST00000586491.1_Missense_Mutation_p.E33K|C17orf50_ENST00000588628.1_Missense_Mutation_p.G40E	NM_145272.3	NP_660315.2	Q8WW18	CQ050_HUMAN	chromosome 17 open reading frame 50	33													Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ggaggggtcggaggacgagga	0.706																																																	0													9.0	14.0	13.0					17																	34091109		1666	3454	5120	SO:0001583	missense	146853			BC021727	CCDS42298.1	17q12	2014-05-06			ENSG00000154768	ENSG00000270806			29581	protein-coding gene	gene with protein product							Standard	NM_145272		Approved		uc002hjx.3	Q8WW18	OTTHUMG00000188389	ENST00000285023.4:c.97G>A	17.37:g.34091109G>A	ENSP00000285023:p.Glu33Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6Q621	Missense_Mutation	SNP	NULL	p.E33K	ENST00000285023.4	37	c.97	CCDS42298.1	17	.	.	.	.	.	.	.	.	.	.	G	11.31	1.602198	0.28534	.	.	ENSG00000154768	ENST00000285023	T	0.46451	0.87	5.19	4.2	0.49525	.	0.603359	0.14690	N	0.304199	T	0.42063	0.1186	L	0.27053	0.805	0.26375	N	0.976829	D	0.63046	0.992	P	0.56563	0.801	T	0.17349	-1.0372	10	0.23302	T	0.38	.	10.7075	0.45962	0.0:0.0:0.8015:0.1985	.	33	Q8WW18	CQ050_HUMAN	K	33	ENSP00000285023:E33K	ENSP00000285023:E33K	E	+	1	0	C17orf50	31115222	0.901000	0.30685	0.521000	0.27850	0.517000	0.34286	1.491000	0.35583	1.123000	0.41961	0.514000	0.50259	GAG	C17orf50	-	NULL		0.706	C17orf50-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf50	HGNC	protein_coding	OTTHUMT00000449132.1	G	NM_145272		34091109	+1	no_errors	ENST00000285023	ensembl	human	known	70_37	missense	SNP	0.941	A
C19orf68	374920	genome.wustl.edu	37	19	48698922	48698922	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:48698922G>C	ENST00000328759.7	+	4	1633	c.1601G>C	c.(1600-1602)aGg>aCg	p.R534T	CARD8_ENST00000600800.1_Intron|ZNF114_ENST00000597695.1_Intron			Q86XI8	CS068_HUMAN	chromosome 19 open reading frame 68	534					hematopoietic progenitor cell differentiation (GO:0002244)|ubiquitin-dependent protein catabolic process (GO:0006511)	nucleus (GO:0005634)											CAGAAGCCGAGGGGACTGGAA	0.597																																																	0																																										SO:0001583	missense	374920			BC043386	CCDS74411.1	19q13.32	2008-08-06			ENSG00000185453	ENSG00000185453			34495	protein-coding gene	gene with protein product						12477932	Standard	NM_199341		Approved	LOC374920	uc002pic.3	Q86XI8		ENST00000328759.7:c.1601G>C	19.37:g.48698922G>C	ENSP00000331363:p.Arg534Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R534T	ENST00000328759.7	37	c.1601		19	.	.	.	.	.	.	.	.	.	.	G	11.59	1.684518	0.29872	.	.	ENSG00000185453	ENST00000328759	.	.	.	3.31	0.802	0.18686	.	0.152670	0.29602	N	0.011682	T	0.31389	0.0795	M	0.64997	1.995	0.09310	N	1	B	0.32160	0.358	B	0.29785	0.107	T	0.30149	-0.9988	9	0.66056	D	0.02	-20.9001	1.9158	0.03297	0.124:0.1938:0.484:0.1983	.	534	Q86XI8	CS068_HUMAN	T	534	.	ENSP00000331363:R534T	R	+	2	0	C19orf68	53390734	0.000000	0.05858	0.008000	0.14137	0.403000	0.30841	0.007000	0.13174	0.718000	0.32166	0.563000	0.77884	AGG	C19orf68	-	NULL		0.597	C19orf68-001	KNOWN	non_canonical_other|basic|appris_principal	protein_coding	C19orf68	HGNC	protein_coding	OTTHUMT00000465598.1	G	XM_001713770		48698922	+1	no_errors	ENST00000328759	ensembl	human	known	70_37	missense	SNP	0.003	C
C1GALT1C1	29071	genome.wustl.edu	37	X	119760175	119760175	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:119760175G>A	ENST00000304661.5	-	2	1085	c.847C>T	c.(847-849)Cca>Tca	p.P283S	C1GALT1C1_ENST00000371313.2_Missense_Mutation_p.P283S	NM_001011551.2	NP_001011551.1	Q96EU7	C1GLC_HUMAN	C1GALT1-specific chaperone 1	283					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	11						ATCTGATTTGGAGTCAGTCCA	0.413																																																	0													172.0	144.0	153.0					X																	119760175		2203	4300	6503	SO:0001583	missense	29071			AJ238398	CCDS14602.1	Xq24	2008-02-05			ENSG00000171155	ENSG00000171155			24338	protein-coding gene	gene with protein product		300611				11042152, 12361956	Standard	NM_152692		Approved	COSMC, C1GALT2	uc004esz.3	Q96EU7	OTTHUMG00000022305	ENST00000304661.5:c.847C>T	X.37:g.119760175G>A	ENSP00000304364:p.Pro283Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K246|Q8WWS3|Q9NZX1	Missense_Mutation	SNP	NULL	p.P283S	ENST00000304661.5	37	c.847	CCDS14602.1	X	.	.	.	.	.	.	.	.	.	.	G	15.68	2.904250	0.52333	.	.	ENSG00000171155	ENST00000304661;ENST00000371313	T;T	0.49139	0.79;0.79	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.51856	0.1699	M	0.69185	2.1	0.80722	D	1	B	0.24823	0.112	B	0.32583	0.148	T	0.47623	-0.9103	9	.	.	.	-16.5937	17.3879	0.87422	0.0:0.0:1.0:0.0	.	283	Q96EU7	C1GLC_HUMAN	S	283	ENSP00000304364:P283S;ENSP00000360363:P283S	.	P	-	1	0	C1GALT1C1	119644203	1.000000	0.71417	0.997000	0.53966	0.972000	0.66771	3.798000	0.55522	2.406000	0.81754	0.544000	0.68410	CCA	C1GALT1C1	-	NULL		0.413	C1GALT1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1GALT1C1	HGNC	protein_coding	OTTHUMT00000058117.1	G	NM_152692		119760175	-1	no_errors	ENST00000304661	ensembl	human	known	70_37	missense	SNP	1.000	A
C1QTNF2	114898	genome.wustl.edu	37	5	159776312	159776312	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:159776312G>C	ENST00000393975.3	-	3	859	c.856C>G	c.(856-858)Ctc>Gtc	p.L286V		NM_031908.4	NP_114114.2	Q9BXJ5	C1QT2_HUMAN	C1q and tumor necrosis factor related protein 2	241					activation of MAPK activity (GO:0000187)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of glucose import (GO:0046326)|positive regulation of glycogen biosynthetic process (GO:0045725)|protein heterotrimerization (GO:0070208)|protein homooligomerization (GO:0051260)	collagen trimer (GO:0005581)|extracellular space (GO:0005615)				breast(2)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	13	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCCTGCTTGAGAGCCAGGATG	0.582																																																	0													102.0	102.0	102.0					5																	159776312		2203	4300	6503	SO:0001583	missense	114898			AF329836	CCDS4351.2	5q33.3	2008-05-15			ENSG00000145861	ENSG00000145861			14325	protein-coding gene	gene with protein product							Standard	XM_005265815		Approved	CTRP2	uc003lyd.3	Q9BXJ5	OTTHUMG00000130323	ENST00000393975.3:c.856C>G	5.37:g.159776312G>C	ENSP00000377545:p.Leu286Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q	p.L286V	ENST00000393975.3	37	c.856	CCDS4351.2	5	.	.	.	.	.	.	.	.	.	.	G	18.00	3.526190	0.64860	.	.	ENSG00000145861	ENST00000393975	D	0.92446	-3.04	5.14	4.27	0.50696	Tumour necrosis factor-like (2);Complement C1q protein (4);	0.000000	0.85682	D	0.000000	D	0.96247	0.8776	M	0.89658	3.05	0.51012	D	0.999901	D	0.89917	1.0	D	0.91635	0.999	D	0.96347	0.9255	10	0.87932	D	0	.	11.0157	0.47687	0.1534:0.0:0.8465:0.0	.	241	Q9BXJ5	C1QT2_HUMAN	V	286	ENSP00000377545:L286V	ENSP00000377545:L286V	L	-	1	0	C1QTNF2	159708890	1.000000	0.71417	0.994000	0.49952	0.967000	0.64934	6.737000	0.74816	1.304000	0.44892	-0.150000	0.13652	CTC	C1QTNF2	-	pfam_C1q,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,prints_C1q		0.582	C1QTNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1QTNF2	HGNC	protein_coding	OTTHUMT00000252672.2	G			159776312	-1	no_errors	ENST00000393975	ensembl	human	known	70_37	missense	SNP	0.999	C
C1R	715	genome.wustl.edu	37	12	7187958	7187958	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:7187958C>A	ENST00000542285.1	-	11	1989	c.1840G>T	c.(1840-1842)Gat>Tat	p.D614Y				P00736	C1R_HUMAN	complement component 1, r subcomponent	666	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ACCCAGCGATCAGTGTTCGGG	0.567																																																	0													62.0	69.0	67.0					12																	7187958		2107	4254	6361	SO:0001583	missense	715			M14058		12p13.31	2014-05-14			ENSG00000159403	ENSG00000159403	3.4.21.41	"""Complement system"""	1246	protein-coding gene	gene with protein product		613785					Standard	NM_001733		Approved		uc010sfy.2	P00736	OTTHUMG00000168149	ENST00000542285.1:c.1840G>T	12.37:g.7187958C>A	ENSP00000438615:p.Asp614Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJQ8|Q68D77|Q8J012	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_EGF-like_Ca-bd,pfam_Sushi_SCR_CCP,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Sushi_SCR_CCP,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.D629Y	ENST00000542285.1	37	c.1885		12	.	.	.	.	.	.	.	.	.	.	C	13.32	2.202897	0.38905	.	.	ENSG00000159403	ENST00000290575;ENST00000542285	T	0.46819	0.86	5.7	4.81	0.61882	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.150448	0.45361	D	0.000367	T	0.59756	0.2217	.	.	.	0.20563	N	0.999886	D	0.60575	0.988	P	0.59424	0.857	T	0.55418	-0.8144	9	0.66056	D	0.02	.	9.311	0.37905	0.0:0.7791:0.1448:0.0761	.	666	P00736	C1R_HUMAN	Y	629;614	ENSP00000438615:D614Y	ENSP00000290575:D629Y	D	-	1	0	C1R	7058213	0.000000	0.05858	0.603000	0.28903	0.270000	0.26580	-0.147000	0.10234	1.397000	0.46682	0.655000	0.94253	GAT	C1R	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.567	C1R-201	KNOWN	basic|appris_candidate_longest	protein_coding	C1R	HGNC	protein_coding		C	NM_001733		7187958	-1	no_errors	ENST00000290575	ensembl	human	known	70_37	missense	SNP	0.182	A
C1RL	51279	genome.wustl.edu	37	12	7249310	7249310	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:7249310C>G	ENST00000266542.4	-	6	1233	c.1141G>C	c.(1141-1143)Gag>Cag	p.E381Q	C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR|C1RL_ENST00000545280.1_Intron	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	381	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGCCCATCTCCATGCCAAAC	0.612																																																	0													81.0	75.0	77.0					12																	7249310		2203	4300	6503	SO:0001583	missense	51279			AF178985	CCDS8573.1, CCDS73431.1	12p13.31	2008-02-05				ENSG00000139178			21265	protein-coding gene	gene with protein product		608974				12838346	Standard	XM_005253385		Approved	C1r-LP, C1RL1	uc001qsn.3	Q9NZP8		ENST00000266542.4:c.1141G>C	12.37:g.7249310C>G	ENSP00000266542:p.Glu381Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GX9	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Peptidase_S1_S6,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E381Q	ENST00000266542.4	37	c.1141	CCDS8573.1	12	.	.	.	.	.	.	.	.	.	.	C	11.61	1.688782	0.29962	.	.	ENSG00000139178	ENST00000266542;ENST00000396661	T	0.41758	0.99	4.98	3.09	0.35607	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.524166	0.19880	N	0.103994	T	0.31482	0.0798	N	0.21282	0.65	0.80722	D	1	B	0.24092	0.097	B	0.30572	0.117	T	0.04579	-1.0941	10	0.24483	T	0.36	.	14.2308	0.65890	0.0:0.7151:0.2849:0.0	.	381	Q9NZP8	C1RL_HUMAN	Q	381	ENSP00000266542:E381Q	ENSP00000266542:E381Q	E	-	1	0	C1RL	7140452	0.894000	0.30519	0.797000	0.32132	0.498000	0.33706	0.860000	0.27871	0.643000	0.30638	0.511000	0.50034	GAG	C1RL	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.612	C1RL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1RL	HGNC	protein_coding	OTTHUMT00000398367.1	C	NM_016546		7249310	-1	no_errors	ENST00000266542	ensembl	human	known	70_37	missense	SNP	0.994	G
KDF1	126695	genome.wustl.edu	37	1	27276594	27276594	+	Missense_Mutation	SNP	G	G	C	rs374830839		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:27276594G>C	ENST00000320567.5	-	4	1251	c.1163C>G	c.(1162-1164)tCg>tGg	p.S388W		NM_152365.2	NP_689578.2	Q8NAX2	KDF1_HUMAN		388					developmental growth (GO:0048589)|establishment of skin barrier (GO:0061436)|keratinocyte development (GO:0003334)|limb epidermis development (GO:0060887)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of stem cell proliferation (GO:2000647)|positive regulation of epidermal cell differentiation (GO:0045606)|regulation of epidermal cell division (GO:0010482)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCCCCGACGAGTCTGTGTC	0.602																																																	0													96.0	77.0	83.0					1																	27276594		2203	4300	6503	SO:0001583	missense	126695																														ENST00000320567.5:c.1163C>G	1.37:g.27276594G>C	ENSP00000319179:p.Ser388Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QP32|Q8N0S7	Missense_Mutation	SNP	NULL	p.S388W	ENST00000320567.5	37	c.1163	CCDS293.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.091045	0.76756	.	.	ENSG00000175707	ENST00000320567	T	0.34667	1.35	4.59	4.59	0.56863	.	0.172684	0.37761	N	0.001957	T	0.47395	0.1443	L	0.27053	0.805	0.80722	D	1	D	0.69078	0.997	D	0.76071	0.987	T	0.52019	-0.8631	10	0.87932	D	0	.	15.7543	0.78013	0.0:0.0:1.0:0.0	.	388	Q8NAX2	CA172_HUMAN	W	388	ENSP00000319179:S388W	ENSP00000319179:S388W	S	-	2	0	C1orf172	27149181	1.000000	0.71417	0.922000	0.36590	0.947000	0.59692	6.454000	0.73493	2.374000	0.81015	0.655000	0.94253	TCG	C1orf172	-	NULL		0.602	C1orf172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf172	HGNC	protein_coding	OTTHUMT00000012340.1	G			27276594	-1	no_errors	ENST00000320567	ensembl	human	known	70_37	missense	SNP	0.993	C
C1orf94	84970	genome.wustl.edu	37	1	34662969	34662969	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:34662969G>C	ENST00000488417.1	+	2	584	c.464G>C	c.(463-465)aGa>aCa	p.R155T	C1orf94_ENST00000373374.3_5'UTR	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	155										central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GAGGGGACCAGAGAGCTGGCT	0.587																																																	0													29.0	32.0	31.0					1																	34662969		692	1591	2283	SO:0001583	missense	84970			AK123355	CCDS381.1, CCDS44108.1	1p34.3	2012-06-26			ENSG00000142698	ENSG00000142698			28250	protein-coding gene	gene with protein product						12477932	Standard	NM_001134734		Approved	MGC15882	uc001bxt.3	Q6P1W5	OTTHUMG00000004012	ENST00000488417.1:c.464G>C	1.37:g.34662969G>C	ENSP00000435634:p.Arg155Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVT1|D3DPR3|E9PJ76|Q96IC8	Missense_Mutation	SNP	NULL	p.R155T	ENST00000488417.1	37	c.464	CCDS44108.1	1	.	.	.	.	.	.	.	.	.	.	G	5.170	0.216947	0.09810	.	.	ENSG00000142698	ENST00000488417	T	0.36340	1.26	5.35	2.33	0.28932	.	.	.	.	.	T	0.29190	0.0726	L	0.44542	1.39	0.09310	N	1	P	0.40731	0.728	B	0.38954	0.286	T	0.11131	-1.0600	9	0.59425	D	0.04	-28.9332	6.9614	0.24599	0.3086:0.0:0.6914:0.0	.	155	Q6P1W5	CA094_HUMAN	T	155	ENSP00000435634:R155T	ENSP00000435634:R155T	R	+	2	0	C1orf94	34435556	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	0.056000	0.14256	0.193000	0.20303	-0.345000	0.07892	AGA	C1orf94	-	NULL		0.587	C1orf94-002	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf94	HGNC	protein_coding	OTTHUMT00000036845.2	G	NM_032884		34662969	+1	no_errors	ENST00000488417	ensembl	human	known	70_37	missense	SNP	0.000	C
C1orf109	54955	genome.wustl.edu	37	1	38156031	38156031	+	5'UTR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:38156031G>C	ENST00000358011.4	-	0	161				CDCA8_ENST00000327331.2_5'Flank|C1orf109_ENST00000464085.1_5'UTR|CDCA8_ENST00000373055.1_5'Flank	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109											lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				TCCTGCTTCAGAGGATTCCTG	0.602																																																	0																																										SO:0001623	5_prime_UTR_variant	54955			AK000515	CCDS423.1	1p34.3	2012-06-21			ENSG00000116922	ENSG00000116922			26039	protein-coding gene	gene with protein product		614799				22548824	Standard	XM_005270979		Approved	FLJ20508	uc001cbp.3	Q9NX04	OTTHUMG00000004323	ENST00000358011.4:c.-29C>G	1.37:g.38156031G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPT1|Q8WVD1	RNA	SNP	-	NULL	ENST00000358011.4	37	NULL	CCDS423.1	1																																																																																			C1orf109	-	-		0.602	C1orf109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf109	HGNC	protein_coding	OTTHUMT00000012486.1	G	NM_017850		38156031	-1	no_errors	ENST00000461359	ensembl	human	known	70_37	rna	SNP	0.122	C
CIART	148523	genome.wustl.edu	37	1	150257222	150257222	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:150257222C>T	ENST00000290363.5	+	4	1082				C1orf51_ENST00000369095.1_Intron|C1orf51_ENST00000469255.1_3'UTR|C1orf51_ENST00000369094.1_Intron	NM_144697.2	NP_653298.1	Q8N365	CIART_HUMAN							circadian regulation of gene expression (GO:0032922)|locomotor rhythm (GO:0045475)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|E-box binding (GO:0070888)			endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(2)	10	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			Gtcttttcttcaagtttcttt	0.363																																																	0																																										SO:0001627	intron_variant	148523																														ENST00000290363.5:c.633+104C>T	1.37:g.150257222C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD43|D3DV01|Q8N795|Q96MG6	RNA	SNP	-	NULL	ENST00000290363.5	37	NULL	CCDS949.1	1																																																																																			C1orf51	-	-		0.363	C1orf51-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C1orf51	HGNC	protein_coding	OTTHUMT00000035058.1	C			150257222	+1	no_errors	ENST00000469255	ensembl	human	known	70_37	rna	SNP	0.000	T
C1orf116	79098	genome.wustl.edu	37	1	207195735	207195735	+	Silent	SNP	C	C	A	rs6693011	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:207195735C>A	ENST00000359470.5	-	4	1623	c.1374G>T	c.(1372-1374)ccG>ccT	p.P458P	C1orf116_ENST00000461135.2_Silent_p.P212P	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	458						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ACTCTGGCTTCGGTGGAGTCA	0.552																																																	0													39.0	41.0	40.0					1																	207195735		2203	4300	6503	SO:0001819	synonymous_variant	79098				CCDS1475.1, CCDS44306.1	1q32.1	2012-06-26			ENSG00000182795	ENSG00000182795			28667	protein-coding gene	gene with protein product	"""specifically androgen-regulated gene"""	611680				15525603, 9389513	Standard	NM_023938		Approved	SARG, FLJ36507, MGC2742, MGC4309	uc001hfd.2	Q9BW04	OTTHUMG00000036580	ENST00000359470.5:c.1374G>T	1.37:g.207195735C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JV41|Q658X3	Silent	SNP	NULL	p.P458	ENST00000359470.5	37	c.1374	CCDS1475.1	1																																																																																			C1orf116	-	NULL		0.552	C1orf116-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf116	HGNC	protein_coding	OTTHUMT00000088973.1	C	NM_024115		207195735	-1	no_errors	ENST00000359470	ensembl	human	known	70_37	silent	SNP	0.002	A
C1orf101	257044	genome.wustl.edu	37	1	244756713	244756713	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:244756713C>T	ENST00000366534.4	+	16	2260	c.2206C>T	c.(2206-2208)Cag>Tag	p.Q736*	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Nonsense_Mutation_p.Q736*|C1orf101_ENST00000366531.3_Nonsense_Mutation_p.Q585*	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	736						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			TCTGAGGCATCAGCCATCGAA	0.323																																																	0													95.0	99.0	98.0					1																	244756713		2203	4300	6503	SO:0001587	stop_gained	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.2206C>T	1.37:g.244756713C>T	ENSP00000355492:p.Gln736*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Nonsense_Mutation	SNP	NULL	p.Q736*	ENST00000366534.4	37	c.2206	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	C	15.03	2.712059	0.48517	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533;ENST00000428042;ENST00000366531	.	.	.	4.03	-0.818	0.10833	.	2.624880	0.01660	N	0.025040	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	10.4511	0.44522	0.6823:0.3177:0.0:0.0	.	.	.	.	X	736;736;736;656;585	.	ENSP00000355489:Q585X	Q	+	1	0	C1orf101	242823336	0.000000	0.05858	0.001000	0.08648	0.078000	0.17371	-0.445000	0.06845	0.064000	0.16427	0.462000	0.41574	CAG	C1orf101	-	NULL		0.323	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	C	NM_173807		244756713	+1	no_errors	ENST00000366534	ensembl	human	known	70_37	nonsense	SNP	0.000	T
C20orf173	140873	genome.wustl.edu	37	20	34110053	34110053	+	IGR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:34110053G>C	ENST00000374345.4	-	0	985				RP3-477O4.16_ENST00000599751.1_lincRNA|RP3-477O4.5_ENST00000422009.1_RNA			Q96LM9	CT173_HUMAN	chromosome 20 open reading frame 173											haematopoietic_and_lymphoid_tissue(1)|skin(1)	2						CCAGGAACCTGAACCGTCTGA	0.483																																																	0																																										SO:0001628	intergenic_variant	140873			AL121586	CCDS46594.1	20q11.22	2012-10-30			ENSG00000125975	ENSG00000125975			16166	protein-coding gene	gene with protein product							Standard	NM_001145350		Approved	dJ477O4.4	uc010zvf.1	Q96LM9	OTTHUMG00000032340		20.37:g.34110053G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVJ1|Q2M293|Q5JWS4|Q9H449	RNA	SNP	-	NULL	ENST00000374345.4	37	NULL	CCDS46594.1	20																																																																																			RP3-477O4.5	-	-		0.483	C20orf173-004	KNOWN	basic|appris_principal|CCDS	protein_coding	C20orf173	Clone_based_vega_gene	protein_coding	OTTHUMT00000471976.1	G	NM_001145350		34110053	-1	no_errors	ENST00000422009	ensembl	human	known	70_37	rna	SNP	0.027	C
MROH8	140699	genome.wustl.edu	37	20	35800374	35800374	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:35800374C>T	ENST00000400441.3	-	4	465	c.466G>A	c.(466-468)Gag>Aag	p.E156K	MROH8_ENST00000441008.2_Missense_Mutation_p.E142K|MROH8_ENST00000217333.8_Missense_Mutation_p.E71K			Q9H579	MROH8_HUMAN	maestro heat-like repeat family member 8	76																	ACAATGGCCTCACTGAGCGGG	0.468																																																	0													67.0	67.0	67.0					20																	35800374		1959	4141	6100	SO:0001583	missense	140699			AL136172		20q11.22	2012-12-19	2012-12-19	2012-12-19	ENSG00000101353	ENSG00000101353		"""maestro heat-like repeat containing"""	16125	protein-coding gene	gene with protein product	"""hypothetical protein LOC140699"""		"""chromosome 20 open reading frame 131"", ""chromosome 20 open reading frame 132"""	C20orf131, C20orf132		11780052, 15635413	Standard	NM_152503		Approved	dJ621N11.4, dJ621N11.3	uc010zvu.2	Q9H579	OTTHUMG00000032407	ENST00000400441.3:c.466G>A	20.37:g.35800374C>T	ENSP00000383291:p.Glu156Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYQ6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E156K	ENST00000400441.3	37	c.466		20	.	.	.	.	.	.	.	.	.	.	C	13.12	2.143692	0.37825	.	.	ENSG00000101353	ENST00000441008;ENST00000400441;ENST00000217333	T;T;T	0.04015	4.01;4.26;3.73	5.08	0.293	0.15742	.	1.084120	0.07126	N	0.844648	T	0.03220	0.0094	L	0.29908	0.895	0.09310	N	1	B;B;B	0.22909	0.005;0.077;0.035	B;B;B	0.20767	0.014;0.025;0.031	T	0.46624	-0.9178	10	0.07644	T	0.81	2.848	3.6518	0.08206	0.1562:0.4484:0.3045:0.091	.	156;76;166	E7ETR9;Q9H579;Q6PF12	.;CT132_HUMAN;.	K	142;156;71	ENSP00000392144:E142K;ENSP00000383291:E156K;ENSP00000217333:E71K	ENSP00000217333:E71K	E	-	1	0	C20orf132	35233788	0.000000	0.05858	0.004000	0.12327	0.025000	0.11179	0.157000	0.16402	0.532000	0.28657	0.491000	0.48974	GAG	C20orf132	-	superfamily_ARM-type_fold		0.468	MROH8-202	KNOWN	basic|appris_principal	protein_coding	C20orf132	HGNC	protein_coding		C	NM_152503		35800374	-1	no_errors	ENST00000400441	ensembl	human	known	70_37	missense	SNP	0.000	T
B3GALT5	10317	genome.wustl.edu	37	21	40969553	40969553	+	Intron	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:40969553C>A	ENST00000380620.4	+	2	69				C21orf88_ENST00000380612.4_3'UTR|C21orf88_ENST00000489821.1_5'UTR			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				tcaggtaggtccaatatactc	0.478																																																	0																																										SO:0001627	intron_variant	114041			AB020337	CCDS13667.1, CCDS74795.1	21q22.3	2013-02-19			ENSG00000183778	ENSG00000183778		"""Beta 3-glycosyltransferases"""	920	protein-coding gene	gene with protein product	"""homolog of C. elegans Bt toxin resistance gene bre-5"", ""GlcNAc-beta-1,3-galactosyltransferase 5"""	604066				10212226	Standard	NM_006057		Approved	beta3Gal-T5, B3GalT-V, GLCT5, B3T5	uc002yyj.1	Q9Y2C3	OTTHUMG00000086725	ENST00000380620.4:c.-523-7468C>A	21.37:g.40969553C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA86|D3DSI3|Q2M3L5|Q53Z19|Q9NY96|Q9P1X6|Q9P1X7	RNA	SNP	-	NULL	ENST00000380620.4	37	NULL	CCDS13667.1	21																																																																																			C21orf88	-	-		0.478	B3GALT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C21orf88	HGNC	protein_coding	OTTHUMT00000195008.2	C	NM_033170		40969553	-1	no_errors	ENST00000489821	ensembl	human	known	70_37	rna	SNP	0.000	A
TANGO2	128989	genome.wustl.edu	37	22	20030962	20030962	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:20030962C>T	ENST00000327374.4	+	3	319	c.141C>T	c.(139-141)ctC>ctT	p.L47L	TANGO2_ENST00000401886.1_Silent_p.L47L|TANGO2_ENST00000479679.1_3'UTR|TANGO2_ENST00000398042.2_Silent_p.L47L|TANGO2_ENST00000447208.2_Silent_p.L47L|TANGO2_ENST00000434570.2_Silent_p.L88L|TANGO2_ENST00000456048.1_Silent_p.L52L|TANGO2_ENST00000432883.1_Silent_p.L47L|TANGO2_ENST00000401833.1_Silent_p.L88L|TANGO2_ENST00000420290.2_5'UTR	NM_001283106.1|NM_001283116.1|NM_001283148.1|NM_001283154.1|NM_152906.4	NP_001270035.1|NP_001270045.1|NP_001270077.1|NP_001270083.1|NP_690870.3	Q6ICL3	TNG2_HUMAN	transport and golgi organization 2 homolog (Drosophila)	47																	ACGAGATCCTCAGTGGTGAGT	0.572																																																	0													123.0	127.0	126.0					22																	20030962		2203	4300	6503	SO:0001819	synonymous_variant	128989				CCDS13772.1, CCDS63404.1, CCDS63405.1, CCDS63406.1, CCDS63407.1, CCDS74821.1, CCDS74822.1	22q11.21	2012-12-13	2012-12-13	2012-12-13	ENSG00000183597	ENSG00000183597			25439	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 25"""	C22orf25		12477932	Standard	XM_005261222		Approved	DKFZp761P1121	uc002zrc.1	Q6ICL3	OTTHUMG00000150510	ENST00000327374.4:c.141C>T	22.37:g.20030962C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUE9|B7WNV6|B7Z583|B7Z730|D3DX23|Q8IW05|Q8NAL0|Q8TCS0|Q96M16	Silent	SNP	pfam_DUF833	p.L52	ENST00000327374.4	37	c.156	CCDS13772.1	22																																																																																			C22orf25	-	pfam_DUF833		0.572	TANGO2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf25	HGNC	protein_coding	OTTHUMT00000318689.2	C	NM_152906		20030962	+1	no_errors	ENST00000456048	ensembl	human	known	70_37	silent	SNP	1.000	T
C22orf31	25770	genome.wustl.edu	37	22	29456577	29456577	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:29456577C>T	ENST00000216071.4	-	2	309	c.258G>A	c.(256-258)aaG>aaA	p.K86K		NM_015370.1	NP_056185.1	O95567	CV031_HUMAN	chromosome 22 open reading frame 31	86										cervix(1)|endometrium(1)|kidney(17)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	27						AGCACTTATTCTTCAGTTGCC	0.498																																																	0													105.0	97.0	100.0					22																	29456577		2203	4300	6503	SO:0001819	synonymous_variant	25770			AL035364	CCDS13848.1	22q12.1	2006-07-05			ENSG00000100249	ENSG00000100249			26931	protein-coding gene	gene with protein product						15461802	Standard	XM_005261490		Approved	HS747E2A, bK747E2.1	uc003aej.1	O95567	OTTHUMG00000151011	ENST00000216071.4:c.258G>A	22.37:g.29456577C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV97	Silent	SNP	NULL	p.K86	ENST00000216071.4	37	c.258	CCDS13848.1	22																																																																																			C22orf31	-	NULL		0.498	C22orf31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C22orf31	HGNC	protein_coding	OTTHUMT00000320952.1	C	NM_015370		29456577	-1	no_errors	ENST00000216071	ensembl	human	known	70_37	silent	SNP	0.993	T
C2CD3	26005	genome.wustl.edu	37	11	73825446	73825446	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:73825446C>T	ENST00000334126.7	-	10	1939	c.1713G>A	c.(1711-1713)gtG>gtA	p.V571V	C2CD3_ENST00000313663.7_Silent_p.V571V			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	571					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)		p.V571V(4)		NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					TTGCTGTAGTCACCTTAGGTG	0.408																																																	4	Substitution - coding silent(4)	lung(4)											100.0	88.0	92.0					11																	73825446		2200	4293	6493	SO:0001819	synonymous_variant	26005			BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.1713G>A	11.37:g.73825446C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep	p.V571	ENST00000334126.7	37	c.1713		11																																																																																			C2CD3	-	smart_C2_Ca-dep		0.408	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	C2CD3	HGNC	protein_coding		C	NM_015531		73825446	-1	no_errors	ENST00000334126	ensembl	human	known	70_37	silent	SNP	0.000	T
C2orf16	84226	genome.wustl.edu	37	2	27802541	27802541	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27802541C>G	ENST00000408964.2	+	1	3153	c.3102C>G	c.(3100-3102)ctC>ctG	p.L1034L	AC074091.1_ENST00000408604.1_RNA	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1034						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGTCTTCCCTCAGCATATTTT	0.458																																																	0													99.0	103.0	102.0					2																	27802541		2104	4248	6352	SO:0001819	synonymous_variant	84226			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3102C>G	2.37:g.27802541C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Silent	SNP	NULL	p.L1034	ENST00000408964.2	37	c.3102	CCDS42666.1	2																																																																																			C2orf16	-	NULL		0.458	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	C	NM_032266		27802541	+1	no_errors	ENST00000408964	ensembl	human	known	70_37	silent	SNP	0.061	G
C3	718	genome.wustl.edu	37	19	6678219	6678219	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:6678219C>G	ENST00000245907.6	-	40	4886	c.4794G>C	c.(4792-4794)gaG>gaC	p.E1598D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1598	NTR. {ECO:0000255|PROSITE- ProRule:PRU00295}.				complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|fatty acid metabolic process (GO:0006631)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of activation of membrane attack complex (GO:0001970)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic cell clearance (GO:2000427)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|positive regulation of glucose transport (GO:0010828)|positive regulation of lipid storage (GO:0010884)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of type IIa hypersensitivity (GO:0001798)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of complement activation (GO:0030449)|regulation of immune response (GO:0050776)|regulation of triglyceride biosynthetic process (GO:0010866)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	C5L2 anaphylatoxin chemotactic receptor binding (GO:0031715)|endopeptidase inhibitor activity (GO:0004866)|receptor binding (GO:0005102)	p.E1598delE(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)	Intravenous Immunoglobulin(DB00028)	AGTGTTTCTTCTCCTCCAGCT	0.617																																																	1	Deletion - In frame(1)	large_intestine(1)											79.0	63.0	68.0					19																	6678219		2203	4300	6503	SO:0001583	missense	718			J04763	CCDS32883.1	19p13.3-p13.2	2014-09-17			ENSG00000125730	ENSG00000125730	3.4.21.43	"""Complement system"", ""Endogenous ligands"""	1318	protein-coding gene	gene with protein product	"""C3a anaphylatoxin"", ""complement component C3a"", ""complement component C3b"", ""prepro-C3"""	120700					Standard	NM_000064		Approved	CPAMD1, ARMD9, C3a, C3b	uc002mfm.3	P01024	OTTHUMG00000150335	ENST00000245907.6:c.4794G>C	19.37:g.6678219C>G	ENSP00000245907:p.Glu1598Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E236	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A-macroglobulin_rcpt-bd,pfam_Macroglobln_a2,pfam_Netrin_module_non-TIMP,pfam_A2M_N_2,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_Anaphylatoxin/fibulin,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_TIMP-like_OB-fold,superfamily_A-macroglobulin_rcpt-bd,superfamily_Anaphylatoxin_,smart_Anaphylatoxin/fibulin,smart_Netrin_module_non-TIMP,pfscan_Anaphylatoxin/fibulin,pfscan_Netrin_domain,prints_Anaphylatoxn	p.E1598D	ENST00000245907.6	37	c.4794	CCDS32883.1	19	.	.	.	.	.	.	.	.	.	.	C	2.214	-0.380065	0.05000	.	.	ENSG00000125730	ENST00000245907	T	0.23950	1.88	5.24	-10.5	0.00291	Tissue inhibitor of metalloproteinases-like, OB-fold (1);Netrin domain (1);Netrin module, non-TIMP type (2);	2.818820	0.01517	U	0.018205	T	0.13670	0.0331	L	0.43598	1.365	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.09377	0.004;0.002	T	0.27262	-1.0079	10	0.14252	T	0.57	.	0.5022	0.00581	0.2244:0.1732:0.2405:0.3619	.	1598;1033	P01024;B4E216	CO3_HUMAN;.	D	1598	ENSP00000245907:E1598D	ENSP00000245907:E1598D	E	-	3	2	C3	6629219	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.543000	0.00934	-1.830000	0.01199	-1.579000	0.00862	GAG	C3	-	pfam_Netrin_module_non-TIMP,superfamily_TIMP-like_OB-fold,smart_Netrin_module_non-TIMP,pfscan_Netrin_domain		0.617	C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3	HGNC	protein_coding	OTTHUMT00000317636.2	C	NM_000064		6678219	-1	no_errors	ENST00000245907	ensembl	human	known	70_37	missense	SNP	0.000	G
C3orf70	285382	genome.wustl.edu	37	3	184870595	184870595	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:184870595G>T	ENST00000335012.2	-	1	207	c.17C>A	c.(16-18)tCg>tAg	p.S6*		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	6								p.S6L(2)		breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CGACGCCGGCGAGGCCGCCGC	0.716																																																	2	Substitution - Missense(2)	urinary_tract(1)|lung(1)											16.0	17.0	17.0					3																	184870595		2196	4292	6488	SO:0001587	stop_gained	285382				CCDS33900.1	3q27	2008-08-08			ENSG00000187068	ENSG00000187068			33731	protein-coding gene	gene with protein product							Standard	NM_001025266		Approved		uc003fpd.3	A6NLC5	OTTHUMG00000156696	ENST00000335012.2:c.17C>A	3.37:g.184870595G>T	ENSP00000334974:p.Ser6*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNY2|B9EH83	Nonsense_Mutation	SNP	NULL	p.S6*	ENST00000335012.2	37	c.17	CCDS33900.1	3	.	.	.	.	.	.	.	.	.	.	G	22.0	4.232127	0.79688	.	.	ENSG00000187068	ENST00000335012	.	.	.	2.01	2.01	0.26516	.	0.281820	0.29692	N	0.011445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	11.538	0.50651	0.0:0.0:1.0:0.0	.	.	.	.	X	6	.	ENSP00000334974:S6X	S	-	2	0	C3orf70	186353289	0.741000	0.28217	0.135000	0.22099	0.031000	0.12232	2.664000	0.46783	0.951000	0.37770	0.195000	0.17529	TCG	C3orf70	-	NULL		0.716	C3orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C3orf70	HGNC	protein_coding	OTTHUMT00000345323.1	G	NM_001025266		184870595	-1	no_errors	ENST00000335012	ensembl	human	known	70_37	nonsense	SNP	0.804	T
C4BPA	722	genome.wustl.edu	37	1	207297628	207297628	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:207297628C>A	ENST00000367070.3	+	6	817	c.623C>A	c.(622-624)tCa>tAa	p.S208*		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	208	Sushi 3. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|negative regulation of complement activation, classical pathway (GO:0045959)|positive regulation of protein catabolic process (GO:0045732)|regulation of complement activation (GO:0030449)|regulation of opsonization (GO:1903027)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|other organism cell (GO:0044216)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CCCCGCTTCTCACTCTTGGGC	0.483																																																	0													85.0	88.0	87.0					1																	207297628		2203	4300	6503	SO:0001587	stop_gained	722			M31452	CCDS1477.1	1q32	2010-09-24	2001-11-28		ENSG00000123838	ENSG00000123838			1325	protein-coding gene	gene with protein product		120830	"""complement component 4-binding protein, alpha"""	C4BP			Standard	XM_005273251		Approved		uc001hfo.3	P04003	OTTHUMG00000036173	ENST00000367070.3:c.623C>A	1.37:g.207297628C>A	ENSP00000356037:p.Ser208*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVQ8	Nonsense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.S208*	ENST00000367070.3	37	c.623	CCDS1477.1	1	.	.	.	.	.	.	.	.	.	.	C	16.32	3.091065	0.55968	.	.	ENSG00000123838	ENST00000367070	.	.	.	5.71	3.84	0.44239	.	0.714836	0.12661	N	0.449642	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	8.7582	0.34658	0.0:0.7697:0.1494:0.0808	.	.	.	.	X	208	.	ENSP00000356037:S208X	S	+	2	0	C4BPA	205364251	0.250000	0.23951	0.015000	0.15790	0.012000	0.07955	1.159000	0.31749	0.873000	0.35799	-0.133000	0.14855	TCA	C4BPA	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.483	C4BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4BPA	HGNC	protein_coding	OTTHUMT00000088089.3	C			207297628	+1	no_errors	ENST00000367070	ensembl	human	known	70_37	nonsense	SNP	0.329	A
SMIM14	201895	genome.wustl.edu	37	4	39553345	39553345	+	3'UTR	DEL	G	G	-	rs142268159	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:39553345delG	ENST00000295958.5	-	0	1087				SMIM14_ENST00000510628.1_5'Flank|UGDH-AS1_ENST00000504032.1_RNA|SMIM14_ENST00000511809.1_3'UTR	NM_174921.1	NP_777581.1	Q96QK8	SIM14_HUMAN	small integral membrane protein 14							endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											AATACCTTATGAAAAAAAGCA	0.284													G|G|-|deletion	114	0.0227636	0.0008	0.0245	5008	,	,		16490	0.0		0.0596	False		,,,				2504	0.0368																0																																										SO:0001624	3_prime_UTR_variant	201895			BC008502	CCDS3456.1	4p14	2014-02-10	2012-12-03	2012-12-03	ENSG00000163683	ENSG00000163683			27321	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 34"""	C4orf34		15231747, 24499674, 23759569	Standard	NM_174921		Approved	FLJ13289	uc003guo.3	Q96QK8	OTTHUMG00000128581	ENST00000295958.5:c.*401C>-	4.37:g.39553345delG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000295958.5	37	NULL	CCDS3456.1	4																																																																																			C4orf34	-	-		0.284	SMIM14-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	C4orf34	HGNC	protein_coding	OTTHUMT00000250434.4	G	NM_174921		39553345	-1	no_errors	ENST00000512441	ensembl	human	known	70_37	rna	DEL	0.000	-
C4orf3	401152	genome.wustl.edu	37	4	120221707	120221707	+	5'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:120221707C>T	ENST00000504110.1	-	0	369				C4orf3_ENST00000399075.4_Missense_Mutation_p.R128Q	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3							integral component of membrane (GO:0016021)		p.R128Q(1)		breast(1)|large_intestine(1)|lung(4)	6						CCTGCAGCTTCGTAACAACCC	0.622																																																	1	Substitution - Missense(1)	lung(1)											93.0	100.0	98.0					4																	120221707		1992	4147	6139	SO:0001623	5_prime_UTR_variant	401152				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"""HCV F-transactivated protein 1"""						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.-17G>A	4.37:g.120221707C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6J203	Missense_Mutation	SNP	NULL	p.R128Q	ENST00000504110.1	37	c.383	CCDS43266.1	4	.	.	.	.	.	.	.	.	.	.	C	14.90	2.673322	0.47781	.	.	ENSG00000164096	ENST00000399075	T	0.37752	1.18	4.55	-2.26	0.06867	.	.	.	.	.	T	0.18551	0.0445	.	.	.	0.09310	N	1.0	.	.	.	.	.	.	T	0.29336	-1.0015	5	0.22109	T	0.4	-0.1601	2.0341	0.03536	0.3653:0.3606:0.1194:0.1547	.	.	.	.	Q	128	ENSP00000382026:R128Q	ENSP00000382026:R128Q	R	-	2	0	C4orf3	120441155	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.041000	0.12084	-0.503000	0.06586	-0.314000	0.08810	CGA	C4orf3	-	NULL		0.622	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf3	HGNC	protein_coding	OTTHUMT00000364576.3	C	NM_001001701		120221707	-1	no_errors	ENST00000399075	ensembl	human	known	70_37	missense	SNP	0.000	T
C4orf29	80167	genome.wustl.edu	37	4	128930140	128930140	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:128930140G>A	ENST00000444616.1	+	5	591	c.344G>A	c.(343-345)gGa>gAa	p.G115E	C4orf29_ENST00000398965.1_Missense_Mutation_p.G115E|C4orf29_ENST00000388795.5_Missense_Mutation_p.G33E			Q0P651	CD029_HUMAN	chromosome 4 open reading frame 29	115						extracellular region (GO:0005576)				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						CATCTTGCTGGAACAGGAGAT	0.303																																																	0													89.0	83.0	84.0					4																	128930140		1845	4097	5942	SO:0001583	missense	80167			AK024759	CCDS47131.1	4q28.2	2008-02-05			ENSG00000164074	ENSG00000164074			26111	protein-coding gene	gene with protein product						12477932	Standard	XM_006714318		Approved	FLJ21106	uc021xrt.1	Q0P651	OTTHUMG00000133304	ENST00000444616.1:c.344G>A	4.37:g.128930140G>A	ENSP00000397229:p.Gly115Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4W8|A1A4W9|Q9H7A7	Missense_Mutation	SNP	pfam_DUF2048	p.G115E	ENST00000444616.1	37	c.344		4	.	.	.	.	.	.	.	.	.	.	G	22.1	4.249030	0.80024	.	.	ENSG00000164074	ENST00000454347;ENST00000398965;ENST00000444616;ENST00000388795;ENST00000545758	.	.	.	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	D	0.84593	0.5506	M	0.86805	2.84	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87677	0.2545	9	0.87932	D	0	-25.6114	18.5022	0.90886	0.0:0.0:1.0:0.0	.	115	Q0P651	CD029_HUMAN	E	115;115;115;33;33	.	ENSP00000373447:G33E	G	+	2	0	C4orf29	129149590	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.128000	0.77217	2.413000	0.81919	0.650000	0.86243	GGA	C4orf29	-	pfam_DUF2048		0.303	C4orf29-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	C4orf29	HGNC	protein_coding	OTTHUMT00000257098.1	G	NM_001039717		128930140	+1	no_errors	ENST00000398965	ensembl	human	known	70_37	missense	SNP	1.000	A
C5orf42	65250	genome.wustl.edu	37	5	37125461	37125461	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37125461C>G	ENST00000508244.1	-	45	8774	c.8681G>C	c.(8680-8682)aGa>aCa	p.R2894T	C5orf42_ENST00000274258.7_Missense_Mutation_p.R1792T|C5orf42_ENST00000425232.2_Missense_Mutation_p.R2894T|C5orf42_ENST00000512288.1_Intron			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	2894						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTGAATCTCTCTTCTTTCCTT	0.358																																																	0													175.0	164.0	167.0					5																	37125461		2203	4300	6503	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.8681G>C	5.37:g.37125461C>G	ENSP00000421690:p.Arg2894Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.R2894T	ENST00000508244.1	37	c.8681	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254838	0.80135	.	.	ENSG00000197603	ENST00000508244;ENST00000425232;ENST00000274258;ENST00000514429	T;T;T;T	0.59638	0.25;0.25;0.25;0.25	6.07	3.37	0.38596	.	0.329365	0.33309	N	0.005048	T	0.67002	0.2847	M	0.72118	2.19	0.29078	N	0.882861	D;D	0.63046	0.992;0.992	P;P	0.59357	0.856;0.856	T	0.63355	-0.6656	10	0.62326	D	0.03	.	7.693	0.28579	0.0:0.7504:0.0:0.2496	.	2894;1792	E9PH94;Q9H799	.;CE042_HUMAN	T	2894;2894;1792;1960	ENSP00000421690:R2894T;ENSP00000389014:R2894T;ENSP00000274258:R1792T;ENSP00000424223:R1960T	ENSP00000274258:R1792T	R	-	2	0	C5orf42	37161218	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	1.256000	0.32921	0.913000	0.36797	-0.136000	0.14681	AGA	C5orf42	-	NULL		0.358	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	C	NM_023073		37125461	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	1.000	G
C5orf42	65250	genome.wustl.edu	37	5	37224796	37224796	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37224796G>C	ENST00000508244.1	-	12	2431	c.2338C>G	c.(2338-2340)Caa>Gaa	p.Q780E	C5orf42_ENST00000274258.7_De_novo_Start_OutOfFrame|C5orf42_ENST00000425232.2_Missense_Mutation_p.Q780E			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	780						integral component of membrane (GO:0016021)				breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			AATTGTGCTTGATACCATAAA	0.343																																																	0													263.0	211.0	227.0					5																	37224796		692	1591	2283	SO:0001583	missense	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.2338C>G	5.37:g.37224796G>C	ENSP00000421690:p.Gln780Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Missense_Mutation	SNP	superfamily_Quino_amine_DH_bsu	p.Q780E	ENST00000508244.1	37	c.2338	CCDS34146.2	5	.	.	.	.	.	.	.	.	.	.	G	11.83	1.755823	0.31046	.	.	ENSG00000197603	ENST00000508244;ENST00000425232	T;T	0.25085	1.82;1.82	5.58	5.58	0.84498	.	0.787332	0.11399	U	0.568053	T	0.48333	0.1494	M	0.67953	2.075	0.80722	D	1	D	0.64830	0.994	P	0.61397	0.888	T	0.11817	-1.0572	10	0.33940	T	0.23	-1.2392	16.3097	0.82864	0.0:0.0:1.0:0.0	.	780	E9PH94	.	E	780	ENSP00000421690:Q780E;ENSP00000389014:Q780E	ENSP00000389014:Q780E	Q	-	1	0	C5orf42	37260553	1.000000	0.71417	0.995000	0.50966	0.582000	0.36321	5.074000	0.64401	2.622000	0.88805	0.650000	0.86243	CAA	C5orf42	-	NULL		0.343	C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	C5orf42	HGNC	protein_coding	OTTHUMT00000360806.1	G	NM_023073		37224796	-1	no_errors	ENST00000425232	ensembl	human	known	70_37	missense	SNP	1.000	C
C6	729	genome.wustl.edu	37	5	41176670	41176670	+	Missense_Mutation	SNP	C	C	G	rs373781885	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:41176670C>G	ENST00000263413.3	-	8	1339	c.1075G>C	c.(1075-1077)Gat>Cat	p.D359H	C6_ENST00000475349.1_5'UTR|C6_ENST00000337836.5_Missense_Mutation_p.D359H	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	359	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)				central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAAAGTCATCGAATATTCGG	0.433																																																	0													130.0	124.0	126.0					5																	41176670		2203	4300	6503	SO:0001583	missense	729			J05024	CCDS3936.1	5p13.1	2014-09-17			ENSG00000039537	ENSG00000039537		"""Complement system"""	1339	protein-coding gene	gene with protein product		217050					Standard	NM_001115131		Approved		uc003jmk.3	P13671	OTTHUMG00000094781	ENST00000263413.3:c.1075G>C	5.37:g.41176670C>G	ENSP00000263413:p.Asp359His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_Thrombospondin_1_rpt,pfam_LDrepeatLR_classA_rpt,pfam_Kazal-type_dom,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.D359H	ENST00000263413.3	37	c.1075	CCDS3936.1	5	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922431	0.73213	.	.	ENSG00000039537	ENST00000337836;ENST00000263413	D;D	0.84873	-1.91;-1.91	5.55	4.69	0.59074	Membrane attack complex component/perforin domain, conserved site (1);Membrane attack complex component/perforin (MACPF) domain (3);	0.298318	0.41938	D	0.000788	D	0.91683	0.7371	M	0.77313	2.365	0.53688	D	0.99997	D	0.76494	0.999	D	0.73380	0.98	D	0.92686	0.6162	10	0.72032	D	0.01	-12.9599	14.292	0.66284	0.0:0.9295:0.0:0.0705	.	359	P13671	CO6_HUMAN	H	359	ENSP00000338861:D359H;ENSP00000263413:D359H	ENSP00000263413:D359H	D	-	1	0	C6	41212427	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	4.529000	0.60588	1.589000	0.49982	0.591000	0.81541	GAT	C6	-	pfam_MACPF,smart_MACPF,prints_MAC_perforin		0.433	C6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6	HGNC	protein_coding	OTTHUMT00000211592.1	C			41176670	-1	no_errors	ENST00000263413	ensembl	human	known	70_37	missense	SNP	1.000	G
C6orf141	135398	genome.wustl.edu	37	6	49519061	49519061	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:49519061G>T	ENST00000529246.2	+	1	949	c.556G>T	c.(556-558)Gag>Tag	p.E186*	C6orf141_ENST00000424426.1_Intron	NM_001145652.1	NP_001139124	Q5SZD1	CF141_HUMAN	chromosome 6 open reading frame 141	186										breast(1)|prostate(1)	2						CACGAGGACTGAGGAGCACTT	0.597																																																	0													67.0	61.0	63.0					6																	49519061		692	1591	2283	SO:0001587	stop_gained	135398			AK054918	CCDS55018.1	6p12.3	2012-02-06			ENSG00000197261	ENSG00000197261			21351	protein-coding gene	gene with protein product							Standard	NM_001145652		Approved	MGC46457	uc011dwo.2	Q5SZD1	OTTHUMG00000014820	ENST00000529246.2:c.556G>T	6.37:g.49519061G>T	ENSP00000434602:p.Glu186*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1H4|Q8N400|Q96NQ1	Nonsense_Mutation	SNP	NULL	p.E186*	ENST00000529246.2	37	c.556	CCDS55018.1	6	.	.	.	.	.	.	.	.	.	.	G	22.9	4.352401	0.82132	.	.	ENSG00000197261	ENST00000529246	.	.	.	5.52	4.65	0.58169	.	0.000000	0.36374	U	0.002634	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.7605	0.57361	0.0:0.1647:0.8353:0.0	.	.	.	.	X	186	.	ENSP00000431184:E186X	E	+	1	0	C6orf141	49627020	0.984000	0.35163	0.971000	0.41717	0.373000	0.29922	2.053000	0.41326	1.442000	0.47568	0.655000	0.94253	GAG	C6orf141	-	NULL		0.597	C6orf141-005	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf141	HGNC	protein_coding	OTTHUMT00000390228.1	G	NM_153344		49519061	+1	no_errors	ENST00000371194	ensembl	human	known	70_37	nonsense	SNP	0.989	T
ERMARD	55780	genome.wustl.edu	37	6	170179281	170179281	+	Missense_Mutation	SNP	C	C	G	rs374321406		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:170179281C>G	ENST00000366773.3	+	17	1776	c.1743C>G	c.(1741-1743)atC>atG	p.I581M	ERMARD_ENST00000366772.2_Missense_Mutation_p.I534M|ERMARD_ENST00000392095.4_Missense_Mutation_p.I455M|ERMARD_ENST00000418781.3_Missense_Mutation_p.I508M|ERMARD_ENST00000588451.1_Missense_Mutation_p.I445M	NM_001278532.1|NM_018341.1	NP_001265461.1|NP_060811.1	Q5T6L9	EMARD_HUMAN	ER membrane-associated RNA degradation	581					multicellular organismal development (GO:0007275)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TTTTTAGTATCAGACTACTGT	0.393																																																	0													169.0	152.0	158.0					6																	170179281		2203	4300	6503	SO:0001583	missense	55780			AK002014	CCDS34576.1, CCDS64572.1, CCDS64573.1, CCDS64574.1	6q27	2013-08-28	2013-08-28	2013-08-28	ENSG00000130023	ENSG00000130023			21056	protein-coding gene	gene with protein product		615532	"""chromosome 6 open reading frame 70"""	C6orf70		23768067	Standard	NM_018341		Approved	FLJ11152, dJ266L20.3	uc003qxg.1	Q5T6L9	OTTHUMG00000016067	ENST00000366773.3:c.1743C>G	6.37:g.170179281C>G	ENSP00000355735:p.Ile581Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFH0|F8WAF1|Q3ZCS8|Q5T6L8|Q9NUT5|Q9NVU2	Missense_Mutation	SNP	NULL	p.I581M	ENST00000366773.3	37	c.1743	CCDS34576.1	6	.	.	.	.	.	.	.	.	.	.	C	4.687	0.127729	0.08981	.	.	ENSG00000130023	ENST00000366773;ENST00000366772;ENST00000418781;ENST00000392095;ENST00000366771	T;T	0.52983	0.64;0.64	5.52	-10.9	0.00192	.	0.782790	0.11483	N	0.559545	T	0.11495	0.0280	L	0.43152	1.355	0.09310	N	1	B;B;P	0.37441	0.225;0.225;0.595	B;B;B	0.31016	0.07;0.07;0.123	T	0.00964	-1.1498	10	0.52906	T	0.07	.	8.145	0.31106	0.0:0.3095:0.3736:0.3169	.	534;508;581	Q5T6L9-3;Q5T6L9-2;Q5T6L9	.;.;CF070_HUMAN	M	581;534;508;455;229	ENSP00000355735:I581M;ENSP00000375945:I455M	ENSP00000355733:I229M	I	+	3	3	C6orf70	169921206	0.097000	0.21791	0.000000	0.03702	0.002000	0.02628	-0.924000	0.03996	-2.448000	0.00545	-0.812000	0.03155	ATC	C6orf70	-	NULL		0.393	ERMARD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C6orf70	HGNC	protein_coding	OTTHUMT00000043238.2	C	NM_018341		170179281	+1	no_errors	ENST00000366773	ensembl	human	known	70_37	missense	SNP	0.000	G
C7	730	genome.wustl.edu	37	5	40945412	40945412	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:40945412C>A	ENST00000313164.9	+	7	1039	c.680C>A	c.(679-681)tCt>tAt	p.S227Y		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	227	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				cellular sodium ion homeostasis (GO:0006883)|complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|complement activation, classical pathway (GO:0006958)|cytolysis (GO:0019835)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane attack complex (GO:0005579)							Ovarian(839;0.0112)				TTTTTTAGATCTTCATCATCT	0.313																																																	0													146.0	137.0	139.0					5																	40945412		1864	4106	5970	SO:0001583	missense	730			J03507	CCDS47201.1	5p13.1	2014-09-17			ENSG00000112936	ENSG00000112936		"""Complement system"""	1346	protein-coding gene	gene with protein product		217070					Standard	NM_000587		Approved		uc003jmh.3	P10643	OTTHUMG00000150340	ENST00000313164.9:c.680C>A	5.37:g.40945412C>A	ENSP00000322061:p.Ser227Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3T5|Q92489	Missense_Mutation	SNP	pfam_MACPF,pfam_Sushi_SCR_CCP,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Complement_control_module,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,smart_Sushi_SCR_CCP,smart_FacI_MAC,pfscan_LDrepeatLR_classA_rpt,pfscan_Sushi_SCR_CCP,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin	p.S227Y	ENST00000313164.9	37	c.680	CCDS47201.1	5	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899322	0.52227	.	.	ENSG00000112936	ENST00000313164;ENST00000515157	T	0.64803	-0.12	5.15	1.39	0.22231	Membrane attack complex component/perforin (MACPF) domain (1);	.	.	.	.	T	0.40595	0.1123	N	0.14661	0.345	0.09310	N	1	P	0.45283	0.855	P	0.47299	0.543	T	0.34900	-0.9810	9	0.02654	T	1	-3.612	4.2331	0.10613	0.0:0.5344:0.1856:0.28	.	227	P10643	CO7_HUMAN	Y	227	ENSP00000322061:S227Y	ENSP00000322061:S227Y	S	+	2	0	C7	40981169	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.051000	0.11885	0.414000	0.25790	0.585000	0.79938	TCT	C7	-	NULL		0.313	C7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C7	HGNC	protein_coding	OTTHUMT00000317680.1	C			40945412	+1	no_errors	ENST00000313164	ensembl	human	known	70_37	missense	SNP	0.000	A
CFAP69	79846	genome.wustl.edu	37	7	89937143	89937143	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:89937143G>C	ENST00000389297.4	+	21	2776	c.2525G>C	c.(2524-2526)aGa>aCa	p.R842T	C7orf63_ENST00000316089.8_Missense_Mutation_p.R796T|C7orf63_ENST00000497910.1_Missense_Mutation_p.R824T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN		842										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TTCTTGGCTAGAACATCAAAC	0.338																																																	0													66.0	66.0	66.0					7																	89937143		1844	4096	5940	SO:0001583	missense	79846																														ENST00000389297.4:c.2525G>C	7.37:g.89937143G>C	ENSP00000373948:p.Arg842Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A3KMP9|B4DYW6|B4DZP7|B9EIM7|Q6V705|Q8IY89|Q9H7C2	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R842T	ENST00000389297.4	37	c.2525	CCDS43613.2	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.5|23.5	4.422342|4.422342	0.83559|0.83559	.|.	.|.	ENSG00000105792|ENSG00000105792	ENST00000389297;ENST00000316089;ENST00000497910;ENST00000449577|ENST00000412839;ENST00000445156	T;T;T;T|.	0.38722|.	1.7;1.6;1.75;1.12|.	5.17|5.17	5.17|5.17	0.71159|0.71159	.|.	0.066336|.	0.56097|.	D|.	0.000025|.	T|.	0.77239|.	0.4101|.	M|M	0.78801|0.78801	2.425|2.425	0.46437|0.46437	D|D	0.999041|0.999041	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.83275|.	0.995;0.996|.	T|.	0.78102|.	-0.2335|.	10|.	0.87932|.	D|.	0|.	-21.8494|-21.8494	17.6621|17.6621	0.88195|0.88195	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	824;842|.	A5D8W1-5;A5D8W1|.	.;CG063_HUMAN|.	T|Y	842;796;824;379|70;28	ENSP00000373948:R842T;ENSP00000321753:R796T;ENSP00000419549:R824T;ENSP00000391571:R379T|.	ENSP00000321753:R796T|.	R|X	+|+	2|3	0|2	C7orf63|C7orf63	89775079|89775079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	5.114000|5.114000	0.64648|0.64648	2.407000|2.407000	0.81776|0.81776	0.650000|0.650000	0.86243|0.86243	AGA|TAG	C7orf63	-	NULL		0.338	C7orf63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf63	HGNC	protein_coding	OTTHUMT00000139891.4	G			89937143	+1	no_errors	ENST00000389297	ensembl	human	known	70_37	missense	SNP	1.000	C
C8orf48	157773	genome.wustl.edu	37	8	13425419	13425419	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:13425419C>G	ENST00000297324.4	+	1	1068	c.919C>G	c.(919-921)Cta>Gta	p.L307V	RP11-145O15.3_ENST00000529018.1_RNA	NM_001007090.2	NP_001007091	Q96LL4	CH048_HUMAN	chromosome 8 open reading frame 48	307										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)	5						GCGACTTACTCTAATCAAACC	0.378																																																	0													49.0	49.0	49.0					8																	13425419		692	1591	2283	SO:0001583	missense	157773			AK058131	CCDS47809.1	8p22	2012-04-13			ENSG00000164743	ENSG00000164743			26345	protein-coding gene	gene with protein product						12477932	Standard	NM_001007090		Approved	FLJ25402	uc003wwp.3	Q96LL4	OTTHUMG00000165482	ENST00000297324.4:c.919C>G	8.37:g.13425419C>G	ENSP00000297324:p.Leu307Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LJ9	Missense_Mutation	SNP	NULL	p.L307V	ENST00000297324.4	37	c.919	CCDS47809.1	8	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793062	0.50102	.	.	ENSG00000164743	ENST00000297324	T	0.32515	1.45	4.0	-3.68	0.04463	.	.	.	.	.	T	0.11965	0.0291	N	0.08118	0	0.09310	N	1	B	0.24258	0.1	B	0.22152	0.038	T	0.24048	-1.0171	9	0.87932	D	0	.	1.4751	0.02424	0.1368:0.1995:0.368:0.2957	.	307	Q96LL4	CH048_HUMAN	V	307	ENSP00000297324:L307V	ENSP00000297324:L307V	L	+	1	2	C8orf48	13469790	0.000000	0.05858	0.000000	0.03702	0.852000	0.48524	-0.270000	0.08584	-0.561000	0.06094	0.655000	0.94253	CTA	C8orf48	-	NULL		0.378	C8orf48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf48	HGNC	protein_coding	OTTHUMT00000384400.1	C	NM_001007090		13425419	+1	no_errors	ENST00000297324	ensembl	human	known	70_37	missense	SNP	0.000	G
C8orf58	541565	genome.wustl.edu	37	8	22460773	22460773	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:22460773C>T	ENST00000289989.5	+	7	1126	c.1052C>T	c.(1051-1053)tCa>tTa	p.S351L	CCAR2_ENST00000521301.1_5'Flank|CCAR2_ENST00000308511.4_5'Flank|C8orf58_ENST00000409586.3_Missense_Mutation_p.S343L|CCAR2_ENST00000389279.3_5'Flank			Q8NAV2	CH058_HUMAN	chromosome 8 open reading frame 58	351										endometrium(1)|lung(1)|ovary(1)|skin(1)	4		Prostate(55;0.0421)|Breast(100;0.102)|all_epithelial(46;0.142)		BRCA - Breast invasive adenocarcinoma(99;0.00563)|Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TTTATGCCATCATTAGTGGTT	0.532																																																	0													91.0	91.0	91.0					8																	22460773		2203	4300	6503	SO:0001583	missense	541565			BC012750	CCDS34862.1, CCDS56527.1, CCDS75708.1	8p21.3	2010-08-17			ENSG00000241852	ENSG00000241852			32233	protein-coding gene	gene with protein product							Standard	NM_001013842		Approved	FLJ34715	uc003xce.3	Q8NAV2	OTTHUMG00000154160	ENST00000289989.5:c.1052C>T	8.37:g.22460773C>T	ENSP00000289989:p.Ser351Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI44	Missense_Mutation	SNP	NULL	p.S351L	ENST00000289989.5	37	c.1052	CCDS34862.1	8	.	.	.	.	.	.	.	.	.	.	C	13.16	2.153116	0.38021	.	.	ENSG00000241852	ENST00000409586;ENST00000289989;ENST00000381191	.	.	.	5.35	3.43	0.39272	.	1.525260	0.04283	N	0.344172	T	0.45975	0.1369	M	0.65975	2.015	0.09310	N	1	P;P	0.42296	0.775;0.775	B;B	0.39660	0.306;0.306	T	0.40534	-0.9558	9	0.59425	D	0.04	-0.9154	8.5728	0.33581	0.0:0.7408:0.1663:0.093	.	343;351	Q8NAV2-2;Q8NAV2	.;CH058_HUMAN	L	343;351;279	.	ENSP00000289989:S351L	S	+	2	0	C8orf58	22516718	0.175000	0.23083	0.402000	0.26371	0.505000	0.33919	1.008000	0.29872	1.238000	0.43771	0.549000	0.68633	TCA	C8orf58	-	NULL		0.532	C8orf58-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C8orf58	HGNC	protein_coding	OTTHUMT00000334183.1	C	NM_001013842		22460773	+1	no_errors	ENST00000289989	ensembl	human	known	70_37	missense	SNP	0.036	T
C8orf44	56260	genome.wustl.edu	37	8	67591814	67591814	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:67591814G>C	ENST00000519561.1	+	3	397				C8orf44_ENST00000390159.3_Intron|C8orf44_ENST00000518860.1_3'UTR|C8orf44-SGK3_ENST00000520044.1_Intron|C8orf44-SGK3_ENST00000519289.1_Intron	NM_019607.2	NP_062553.1	Q96CB5	CH044_HUMAN	chromosome 8 open reading frame 44							nucleus (GO:0005634)				endometrium(1)|kidney(1)|lung(2)	4	Breast(64;0.186)		Epithelial(68;0.000959)|OV - Ovarian serous cystadenocarcinoma(28;0.00318)|all cancers(69;0.00363)|BRCA - Breast invasive adenocarcinoma(89;0.149)			GCTGACAAATGAGAAACAGAC	0.418																																																	0																																										SO:0001627	intron_variant	56260			AK002129	CCDS6193.1	8q13.1	2012-05-16		2005-08-09	ENSG00000213865	ENSG00000213865			25646	protein-coding gene	gene with protein product						12477932	Standard	NM_019607		Approved	FLJ11267	uc003xwo.2	Q96CB5	OTTHUMG00000164562	ENST00000519561.1:c.247-142G>C	8.37:g.67591814G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NUM6	RNA	SNP	-	NULL	ENST00000519561.1	37	NULL	CCDS6193.1	8																																																																																			C8orf44	-	-		0.418	C8orf44-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C8orf44	HGNC	protein_coding	OTTHUMT00000379242.2	G	NM_019607		67591814	+1	no_errors	ENST00000518860	ensembl	human	known	70_37	rna	SNP	0.001	C
C9orf131	138724	genome.wustl.edu	37	9	35042891	35042891	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:35042891G>A	ENST00000312292.5	+	2	312	c.265G>A	c.(265-267)Gat>Aat	p.D89N	C9orf131_ENST00000421362.2_Missense_Mutation_p.D41N|FLJ00273_ENST00000595331.1_5'Flank|C9orf131_ENST00000354479.5_Missense_Mutation_p.D16N	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	89										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGCCTTCCTTGATCACCTGTG	0.488																																																	0													72.0	67.0	69.0					9																	35042891		2203	4300	6503	SO:0001583	missense	138724			BC045643	CCDS6572.2, CCDS47961.1, CCDS47962.1	9p13.3	2008-02-05			ENSG00000174038	ENSG00000174038			31418	protein-coding gene	gene with protein product							Standard	NM_001287391		Approved	MGC41945	uc003zvw.3	Q5VYM1	OTTHUMG00000019853	ENST00000312292.5:c.265G>A	9.37:g.35042891G>A	ENSP00000308279:p.Asp89Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLE6|E9PB26|Q86XC6|Q9UF74	Missense_Mutation	SNP	NULL	p.D89N	ENST00000312292.5	37	c.265	CCDS6572.2	9	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066397	0.36470	.	.	ENSG00000174038	ENST00000421362;ENST00000354479;ENST00000312292;ENST00000378745;ENST00000435140	T;T;T;T	0.48836	1.93;1.6;1.94;0.8	4.45	2.62	0.31277	.	0.568986	0.15922	N	0.238083	T	0.34658	0.0905	L	0.32530	0.975	0.09310	N	0.999999	P;P;P	0.40731	0.728;0.728;0.728	B;B;B	0.39904	0.313;0.313;0.313	T	0.14868	-1.0457	10	0.54805	T	0.06	-0.2605	6.9444	0.24510	0.204:0.0:0.796:0.0	.	89;16;41	Q5VYM1;A6NLE6;E9PB26	CI131_HUMAN;.;.	N	41;16;89;54;17	ENSP00000393683:D41N;ENSP00000346472:D16N;ENSP00000308279:D89N;ENSP00000368019:D54N	ENSP00000308279:D89N	D	+	1	0	C9orf131	35032891	0.983000	0.35010	0.170000	0.22879	0.113000	0.19764	2.422000	0.44696	0.818000	0.34468	0.655000	0.94253	GAT	C9orf131	-	NULL		0.488	C9orf131-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf131	HGNC	protein_coding	OTTHUMT00000052283.5	G	NM_203299		35042891	+1	no_errors	ENST00000312292	ensembl	human	known	70_37	missense	SNP	0.232	A
CCDC180	100499483	genome.wustl.edu	37	9	100133042	100133042	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:100133042G>A	ENST00000357054.1	+	45	5372	c.4437G>A	c.(4435-4437)atG>atA	p.M1479I	RP11-23J9.4_ENST00000534123.1_RNA|CCDC180_ENST00000375202.2_Missense_Mutation_p.M1534I|CCDC180_ENST00000395220.1_3'UTR|CCDC180_ENST00000529487.1_Missense_Mutation_p.M1534I			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	1479						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											TGATTAGGATGAACAAGGAGA	0.493																																																	0													117.0	116.0	117.0					9																	100133042		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.4437G>A	9.37:g.100133042G>A	ENSP00000349562:p.Met1479Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.M1534I	ENST00000357054.1	37	c.4602		9	.	.	.	.	.	.	.	.	.	.	G	8.837	0.941332	0.18281	.	.	ENSG00000197816	ENST00000357054;ENST00000375202;ENST00000529487	T;T;T	0.42900	0.96;0.96;0.96	5.33	-10.0	0.00425	.	3.411240	0.00508	N	0.000161	T	0.29976	0.0750	L	0.36672	1.1	0.09310	N	1	B;P	0.34412	0.066;0.453	B;B	0.39771	0.062;0.309	T	0.34576	-0.9823	10	0.40728	T	0.16	11.3177	3.6152	0.08075	0.4803:0.2898:0.1325:0.0975	.	1673;1479	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	I	1479;1534;1534	ENSP00000349562:M1479I;ENSP00000364348:M1534I;ENSP00000434727:M1534I	ENSP00000349562:M1479I	M	+	3	0	C9orf174	99172863	0.000000	0.05858	0.000000	0.03702	0.030000	0.12068	-1.666000	0.01963	-1.805000	0.01239	-0.150000	0.13652	ATG	C9orf174	-	NULL		0.493	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		G	NM_020893		100133042	+1	no_errors	ENST00000375202	ensembl	human	known	70_37	missense	SNP	0.000	A
C9orf114	51490	genome.wustl.edu	37	9	131586155	131586155	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:131586155G>A	ENST00000361256.5	-	11	973	c.933C>T	c.(931-933)ttC>ttT	p.F311F		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	311							poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(4)|ovary(1)	7						GGAGGCCCCCGAACACCACAA	0.642																																																	0													37.0	35.0	36.0					9																	131586155		2203	4300	6503	SO:0001819	synonymous_variant	51490				CCDS6913.1	9q34.11	2014-05-29			ENSG00000198917	ENSG00000198917			26933	protein-coding gene	gene with protein product	"""centromere protein 32"""					20813266	Standard	NM_016390		Approved	HSPC109, CENP-32	uc004bwd.3	Q5T280	OTTHUMG00000020762	ENST00000361256.5:c.933C>T	9.37:g.131586155G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0D2P6|Q6P469|Q6PGP9|Q6PIJ1|Q6PJV9	Silent	SNP	pfam_Put_MeTrfase,superfamily_NA-bd_OB-fold-like	p.F311	ENST00000361256.5	37	c.933	CCDS6913.1	9	.	.	.	.	.	.	.	.	.	.	G	9.618	1.133167	0.21041	.	.	ENSG00000198917	ENST00000372618	.	.	.	5.67	-4.38	0.03622	.	0.797182	0.12104	N	0.499183	T	0.70202	0.3197	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.75761	-0.3204	6	0.87932	D	0	0.0736	14.4992	0.67709	0.7192:0.0:0.2808:0.0	.	.	.	.	L	310	.	ENSP00000361701:S310L	S	-	2	0	C9orf114	130625976	0.771000	0.28555	0.932000	0.37286	0.906000	0.53458	0.071000	0.14594	-0.740000	0.04803	-0.379000	0.06801	TCG	C9orf114	-	pfam_Put_MeTrfase		0.642	C9orf114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf114	HGNC	protein_coding	OTTHUMT00000054500.1	G	NM_016390		131586155	-1	no_errors	ENST00000361256	ensembl	human	known	70_37	silent	SNP	0.961	A
CABIN1	23523	genome.wustl.edu	37	22	24451464	24451464	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:24451464C>T	ENST00000398319.2	+	9	1320	c.935C>T	c.(934-936)tCc>tTc	p.S312F	CABIN1_ENST00000405822.2_Missense_Mutation_p.S262F|CABIN1_ENST00000263119.5_Missense_Mutation_p.S312F	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	312					cell surface receptor signaling pathway (GO:0007166)|chromatin modification (GO:0016568)|DNA replication-independent nucleosome assembly (GO:0006336)|negative regulation of catalytic activity (GO:0043086)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	protein phosphatase inhibitor activity (GO:0004864)			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCTCTTGAGTCCTCCATGGTG	0.582																																																	0													120.0	107.0	111.0					22																	24451464		2203	4300	6503	SO:0001583	missense	23523			AF072441	CCDS13823.1, CCDS74830.1	22q11.23	2008-09-16			ENSG00000099991	ENSG00000099991			24187	protein-coding gene	gene with protein product		604251				9655484, 9205841	Standard	NM_001199281		Approved	KIAA0330, PPP3IN	uc002zzi.1	Q9Y6J0	OTTHUMG00000150797	ENST00000398319.2:c.935C>T	22.37:g.24451464C>T	ENSP00000381364:p.Ser312Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9F3|Q6PHY0|Q9Y460	Missense_Mutation	SNP	pfam_MEF2_binding,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S312F	ENST00000398319.2	37	c.935	CCDS13823.1	22	.	.	.	.	.	.	.	.	.	.	C	4.115	0.019452	0.08006	.	.	ENSG00000099991	ENST00000454754;ENST00000263119;ENST00000405822;ENST00000445422;ENST00000398319;ENST00000536026	T;T;T;T;T	0.64260	0.49;0.13;-0.09;0.49;0.13	5.59	4.56	0.56223	.	0.539766	0.22320	N	0.061606	T	0.43722	0.1260	N	0.22421	0.69	0.09310	N	0.999999	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.001;0.002;0.0	T	0.12066	-1.0562	10	0.33940	T	0.23	.	7.5569	0.27829	0.0:0.8431:0.0:0.1569	.	267;312;262;312	C9J068;F5H5W5;G5E9F3;Q9Y6J0	.;.;.;CABIN_HUMAN	F	267;312;262;267;312;312	ENSP00000394209:S267F;ENSP00000263119:S312F;ENSP00000384694:S262F;ENSP00000412389:S267F;ENSP00000381364:S312F	ENSP00000263119:S312F	S	+	2	0	CABIN1	22781464	0.847000	0.29606	0.057000	0.19452	0.048000	0.14542	1.587000	0.36622	2.819000	0.97034	0.644000	0.83932	TCC	CABIN1	-	NULL		0.582	CABIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CABIN1	HGNC	protein_coding	OTTHUMT00000320161.2	C	NM_012295		24451464	+1	no_errors	ENST00000263119	ensembl	human	known	70_37	missense	SNP	0.010	T
CACNA1F	778	genome.wustl.edu	37	X	49072855	49072855	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:49072855C>T	ENST00000376265.2	-	27	3317	c.3256G>A	c.(3256-3258)Gaa>Aaa	p.E1086K	CACNA1F_ENST00000376251.1_Missense_Mutation_p.E1021K|CACNA1F_ENST00000323022.5_Missense_Mutation_p.E1075K	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1086	Dihydropyridine binding. {ECO:0000250}.	Calcium ion selectivity and permeability. {ECO:0000250}.			axonogenesis (GO:0007409)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|dendrite morphogenesis (GO:0048813)|detection of light stimulus involved in visual perception (GO:0050908)|membrane depolarization during action potential (GO:0086010)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|perikaryon (GO:0043204)|photoreceptor outer segment (GO:0001750)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GGCCAGCCTTCAAAGGTGGAG	0.587																																																	0													66.0	51.0	56.0					X																	49072855		2203	4300	6503	SO:0001583	missense	778			AA019975	CCDS35253.1, CCDS59166.1, CCDS59167.1	Xp11.23	2013-01-23	2007-02-16		ENSG00000102001	ENSG00000102001		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1393	protein-coding gene	gene with protein product		300110	"""Aland island eye disease (Forsius-Eriksson ocular albinism, ocular albinism type 2)"""	CSNB2, AIED		9344658, 9662400, 16382099, 12111638, 17525176	Standard	NM_005183		Approved	Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2	uc010nip.3	O60840	OTTHUMG00000022703	ENST00000376265.2:c.3256G>A	X.37:g.49072855C>T	ENSP00000365441:p.Glu1086Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI29|F5CIQ9|O43901|O95226|Q9UHB1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.E1086K	ENST00000376265.2	37	c.3256	CCDS35253.1	X	.	.	.	.	.	.	.	.	.	.	.	29.8	5.033911	0.93575	.	.	ENSG00000102001	ENST00000376251;ENST00000323022;ENST00000376265	D;D;D	0.97480	-4.4;-4.4;-4.4	4.93	4.93	0.64822	Ion transport (1);	0.107041	0.64402	D	0.000006	D	0.98337	0.9448	M	0.80422	2.495	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.83275	0.994;0.996	D	0.99679	1.0998	10	0.87932	D	0	.	15.9803	0.80105	0.0:1.0:0.0:0.0	.	1075;1086	F5CIQ9;O60840	.;CAC1F_HUMAN	K	1021;1075;1086	ENSP00000365427:E1021K;ENSP00000321618:E1075K;ENSP00000365441:E1086K	ENSP00000321618:E1075K	E	-	1	0	CACNA1F	48959799	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.758000	0.85224	2.019000	0.59389	0.506000	0.49869	GAA	CACNA1F	-	pfam_Ion_trans_dom		0.587	CACNA1F-007	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1F	HGNC	protein_coding	OTTHUMT00000358157.1	C	NM_005183		49072855	-1	no_errors	ENST00000376265	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNB4	785	genome.wustl.edu	37	2	152698450	152698450	+	Silent	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:152698450G>T	ENST00000539935.1	-	13	1336	c.1269C>A	c.(1267-1269)ctC>ctA	p.L423L	CACNB4_ENST00000397327.2_Silent_p.L376L|CACNB4_ENST00000360283.6_Silent_p.L390L|CACNB4_ENST00000201943.5_Intron|CACNB4_ENST00000534999.1_Silent_p.L389L|CACNB4_ENST00000427385.1_Silent_p.L405L	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	423					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	GATATGGTGAGAGTGCCGTGG	0.488																																																	0													129.0	133.0	132.0					2																	152698450		2030	4179	6209	SO:0001819	synonymous_variant	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.1269C>A	2.37:g.152698450G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Silent	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.L424	ENST00000539935.1	37	c.1272	CCDS46426.1	2																																																																																			CACNB4	-	NULL		0.488	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	G	NM_000726.3		152698450	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	silent	SNP	0.996	T
CADPS	8618	genome.wustl.edu	37	3	62739410	62739410	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:62739410C>G	ENST00000383710.4	-	3	943	c.594G>C	c.(592-594)caG>caC	p.Q198H	CADPS_ENST00000490353.2_Missense_Mutation_p.Q198H|CADPS_ENST00000283269.9_Missense_Mutation_p.Q198H|CADPS_ENST00000357948.3_Missense_Mutation_p.Q198H	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	198					catecholamine secretion (GO:0050432)|exocytosis (GO:0006887)|protein transport (GO:0015031)|synaptic vesicle priming (GO:0016082)|vesicle organization (GO:0016050)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|membrane (GO:0016020)|synapse (GO:0045202)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		AGCCTCCACTCTGAACCATGC	0.562																																																	0													40.0	35.0	37.0					3																	62739410		2203	4300	6503	SO:0001583	missense	8618			U36448	CCDS2898.1, CCDS2899.1, CCDS46858.1	3p21.1	2013-01-10	2008-08-28		ENSG00000163618	ENSG00000163618		"""Pleckstrin homology (PH) domain containing"""	1426	protein-coding gene	gene with protein product		604667				1516133	Standard	NM_183393		Approved	CAPS, KIAA1121, CAPS1	uc003dll.2	Q9ULU8	OTTHUMG00000158651	ENST00000383710.4:c.594G>C	3.37:g.62739410C>G	ENSP00000373215:p.Gln198His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF60|Q13339|Q6GQQ6|Q8N2Z5|Q8N3M7|Q8NFR0|Q96BC2	Missense_Mutation	SNP	pfam_Ca-dep_secretion_activator,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.Q198H	ENST00000383710.4	37	c.594	CCDS46858.1	3	.	.	.	.	.	.	.	.	.	.	C	11.18	1.563876	0.27915	.	.	ENSG00000163618	ENST00000383709;ENST00000383710;ENST00000357948;ENST00000283269;ENST00000490353	D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	D	0.85239	0.5651	L	0.35723	1.085	0.47905	D	0.999543	B;D;D	0.67145	0.016;0.988;0.996	B;D;D	0.75484	0.029;0.984;0.986	D	0.83676	0.0169	10	0.39692	T	0.17	.	10.3016	0.43656	0.0:0.8541:0.0:0.1459	.	198;198;198	Q9ULU8-2;Q9ULU8-3;Q9ULU8	.;.;CAPS1_HUMAN	H	198	ENSP00000373215:Q198H;ENSP00000350632:Q198H;ENSP00000283269:Q198H;ENSP00000418736:Q198H	ENSP00000283269:Q198H	Q	-	3	2	CADPS	62714450	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	1.709000	0.37909	2.707000	0.92482	0.655000	0.94253	CAG	CADPS	-	NULL		0.562	CADPS-013	KNOWN	basic|appris_principal|CCDS	protein_coding	CADPS	HGNC	protein_coding	OTTHUMT00000351951.5	C	NM_003716, NM_183393, NM_183394		62739410	-1	no_errors	ENST00000383710	ensembl	human	known	70_37	missense	SNP	1.000	G
CALHM3	119395	genome.wustl.edu	37	10	105233456	105233456	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:105233456G>A	ENST00000369783.4	-	3	756	c.549C>T	c.(547-549)atC>atT	p.I183I		NM_001129742.1	NP_001123214.1	Q86XJ0	CAHM3_HUMAN	calcium homeostasis modulator 3	183					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(1)	2						CGCTCCAGCCGATGGCCTGCA	0.517																																																	0													17.0	22.0	20.0					10																	105233456		692	1591	2283	SO:0001819	synonymous_variant	119395			BC043367	CCDS44476.1	10q24.33	2008-07-02	2008-07-02	2008-07-02	ENSG00000183128	ENSG00000183128			23458	protein-coding gene	gene with protein product			"""family with sequence similarity 26, member A"""	FAM26A		18585350	Standard	NM_001129742		Approved	bA225H22.7	uc001kxg.4	Q86XJ0	OTTHUMG00000018989	ENST00000369783.4:c.549C>T	10.37:g.105233456G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5W090|Q8IXR2	Silent	SNP	NULL	p.I183	ENST00000369783.4	37	c.549	CCDS44476.1	10																																																																																			CALHM3	-	NULL		0.517	CALHM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CALHM3	HGNC	protein_coding	OTTHUMT00000050157.1	G	NM_182494		105233456	-1	no_errors	ENST00000369783	ensembl	human	known	70_37	silent	SNP	0.665	A
PPT1	5538	genome.wustl.edu	37	1	40536182	40536182	+	IGR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:40536182C>G	ENST00000433473.3	-	0	2740				CAP1_ENST00000479759.1_3'UTR|CAP1_ENST00000340450.3_Missense_Mutation_p.Q399E|CAP1_ENST00000372805.3_Missense_Mutation_p.Q400E|CAP1_ENST00000372802.1_Missense_Mutation_p.Q399E|CAP1_ENST00000372797.3_Missense_Mutation_p.Q400E|CAP1_ENST00000372792.2_Missense_Mutation_p.Q400E|CAP1_ENST00000372798.1_Missense_Mutation_p.Q399E	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1						adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTCAAAGTTCAGGTAACTCG	0.423																																																	0													235.0	222.0	226.0					1																	40536182		1927	4144	6071	SO:0001628	intergenic_variant	10487			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495		1.37:g.40536182C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY24|Q6FGQ4	Missense_Mutation	SNP	pfam_Adenylate_cyclase-assoc_CAP_N,pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_N,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif	p.Q400E	ENST00000433473.3	37	c.1198	CCDS447.1	1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740297	0.89573	.	.	ENSG00000131236	ENST00000372797;ENST00000372802;ENST00000372792;ENST00000538246;ENST00000372798;ENST00000340450;ENST00000372805	T;T;T;T;T;T	0.15487	2.42;2.42;2.42;2.42;2.42;2.42	5.98	5.98	0.97165	CARP motif (1);Cyclase-associated protein CAP/septum formation inhibitor MinC, C-terminal (1);Adenylate cyclase-associated CAP, C-terminal (2);C-CAP/cofactor C-like domain (1);	0.000000	0.85682	D	0.000000	T	0.58004	0.2092	H	0.95470	3.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	T	0.69577	-0.5108	10	0.87932	D	0	-14.7834	19.5059	0.95116	0.0:1.0:0.0:0.0	.	347;400	E7ENY9;Q01518	.;CAP1_HUMAN	E	400;399;400;377;399;399;400	ENSP00000361883:Q400E;ENSP00000361888:Q399E;ENSP00000361878:Q400E;ENSP00000361884:Q399E;ENSP00000344832:Q399E;ENSP00000361891:Q400E	ENSP00000344832:Q399E	Q	+	1	0	CAP1	40308769	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.675000	0.84002	2.853000	0.98044	0.644000	0.83932	CAG	CAP1	-	pfam_Adenylate_cyclase-assoc_CAP_C,superfamily_Adenylate_cyclase-assoc_CAP_C,smart_CARP_motif		0.423	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAP1	HGNC	protein_coding	OTTHUMT00000013126.2	C	NM_000310		40536182	+1	no_errors	ENST00000372792	ensembl	human	known	70_37	missense	SNP	1.000	G
CAPN1	823	genome.wustl.edu	37	11	64954750	64954750	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64954750C>G	ENST00000527323.1	+	6	1064	c.824C>G	c.(823-825)tCt>tGt	p.S275C	CAPN1_ENST00000279247.6_Missense_Mutation_p.S275C|CAPN1_ENST00000533129.1_Missense_Mutation_p.S275C|CAPN1_ENST00000524773.1_Missense_Mutation_p.S275C|CAPN1_ENST00000533820.1_Missense_Mutation_p.S275C			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	275	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CATGCCTACTCTGTGACCGGG	0.607																																																	0													47.0	50.0	49.0					11																	64954750		2034	4183	6217	SO:0001583	missense	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.824C>G	11.37:g.64954750C>G	ENSP00000431984:p.Ser275Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.S275C	ENST00000527323.1	37	c.824	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	C	23.6	4.431724	0.83776	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323;ENST00000526468	D;D;D;D;D;D	0.91945	-2.94;-2.94;-2.94;-2.94;-2.94;-2.94	4.56	4.56	0.56223	Peptidase C2, calpain, catalytic domain (3);	0.113304	0.64402	D	0.000007	D	0.97455	0.9167	H	0.97516	4.02	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	D	0.98789	1.0735	10	0.87932	D	0	.	15.2006	0.73132	0.0:1.0:0.0:0.0	.	275	P07384	CAN1_HUMAN	C	275;275;275;275;221;275;170	ENSP00000435272:S275C;ENSP00000431686:S275C;ENSP00000434176:S275C;ENSP00000279247:S275C;ENSP00000431984:S275C;ENSP00000433366:S170C	ENSP00000259755:S221C	S	+	2	0	CAPN1	64711326	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.685000	0.84117	2.271000	0.75665	0.505000	0.49811	TCT	CAPN1	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.607	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	C			64954750	+1	no_errors	ENST00000279247	ensembl	human	known	70_37	missense	SNP	1.000	G
CAPN1	823	genome.wustl.edu	37	11	64956162	64956162	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64956162C>G	ENST00000527323.1	+	9	1350	c.1110C>G	c.(1108-1110)ctC>ctG	p.L370L	CAPN1_ENST00000279247.6_Silent_p.L370L|CAPN1_ENST00000533129.1_Silent_p.L370L|CAPN1_ENST00000524773.1_Silent_p.L370L|CAPN1_ENST00000533820.1_Silent_p.L370L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	370	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		ACACCACACTCTACGAAGGCA	0.647																																																	0													31.0	34.0	33.0					11																	64956162		1962	4137	6099	SO:0001819	synonymous_variant	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1110C>G	11.37:g.64956162C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TTR0|Q6DHV4	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L370	ENST00000527323.1	37	c.1110	CCDS44644.1	11																																																																																			CAPN1	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.647	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	C			64956162	+1	no_errors	ENST00000279247	ensembl	human	known	70_37	silent	SNP	0.034	G
CAPN1	823	genome.wustl.edu	37	11	64974041	64974041	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64974041C>A	ENST00000527323.1	+	12	1701	c.1461C>A	c.(1459-1461)ttC>ttA	p.F487L	CAPN1_ENST00000279247.6_Missense_Mutation_p.F487L|CAPN1_ENST00000533129.1_Missense_Mutation_p.F487L|CAPN1_ENST00000524773.1_Missense_Mutation_p.F487L|CAPN1_ENST00000533820.1_Missense_Mutation_p.F487L			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	487	Domain III.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		GCACCCGCTTCCGCCTGCCAC	0.627																																																	0													46.0	53.0	51.0					11																	64974041		2113	4235	6348	SO:0001583	missense	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.1461C>A	11.37:g.64974041C>A	ENSP00000431984:p.Phe487Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TTR0|Q6DHV4	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.F487L	ENST00000527323.1	37	c.1461	CCDS44644.1	11	.	.	.	.	.	.	.	.	.	.	C	14.61	2.585683	0.46110	.	.	ENSG00000014216	ENST00000533820;ENST00000533129;ENST00000524773;ENST00000279247;ENST00000259755;ENST00000527323	D;D;D;D;D	0.88277	-2.36;-2.36;-2.36;-2.36;-2.36	5.26	3.3	0.37823	Peptidase C2, calpain, large subunit, domain III (2);Peptidase C2, calpain, domain III (1);	0.529829	0.20321	N	0.094625	T	0.81777	0.4894	N	0.25825	0.765	0.37430	D	0.913997	B	0.02656	0.0	B	0.10450	0.005	T	0.78006	-0.2373	10	0.32370	T	0.25	.	13.4647	0.61247	0.0:0.6451:0.3549:0.0	.	487	P07384	CAN1_HUMAN	L	487;487;487;487;433;487	ENSP00000435272:F487L;ENSP00000431686:F487L;ENSP00000434176:F487L;ENSP00000279247:F487L;ENSP00000431984:F487L	ENSP00000259755:F433L	F	+	3	2	CAPN1	64730617	0.999000	0.42202	1.000000	0.80357	0.988000	0.76386	1.072000	0.30678	1.184000	0.42957	0.462000	0.41574	TTC	CAPN1	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III		0.627	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CAPN1	HGNC	protein_coding	OTTHUMT00000385325.1	C			64974041	+1	no_errors	ENST00000279247	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN8	388743	genome.wustl.edu	37	1	223717507	223717507	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:223717507G>A	ENST00000366872.5	-	18	1884	c.1885C>T	c.(1885-1887)Ctg>Ttg	p.L629L				A6NHC0	CAN8_HUMAN	calpain 8	651	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				digestion (GO:0007586)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			NS(1)|endometrium(2)|prostate(1)	4						GCATACCGCAGGGCAATGGTC	0.572																																																	0													100.0	88.0	91.0					1																	223717507		692	1591	2283	SO:0001819	synonymous_variant	388743				CCDS73038.1	1q41	2013-01-10	2007-02-21		ENSG00000203697	ENSG00000203697		"""EF-hand domain containing"""	1485	protein-coding gene	gene with protein product			"""calpain 8 (nCL-2)"""			7690035, 8889549	Standard	NM_001143962		Approved	nCL-2	uc009xee.2	A6NHC0	OTTHUMG00000037378	ENST00000366872.5:c.1885C>T	1.37:g.223717507G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXL2	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.L629	ENST00000366872.5	37	c.1885		1																																																																																			CAPN8	-	NULL		0.572	CAPN8-201	KNOWN	basic|appris_principal	protein_coding	CAPN8	HGNC	protein_coding		G	NM_001143962		223717507	-1	no_errors	ENST00000366872	ensembl	human	known	70_37	silent	SNP	0.004	A
CAPN2	824	genome.wustl.edu	37	1	223947151	223947151	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:223947151C>T	ENST00000295006.5	+	12	1806	c.1497C>T	c.(1495-1497)atC>atT	p.I499I	CAPN2_ENST00000474026.1_3'UTR|CAPN2_ENST00000433674.2_Silent_p.I421I	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	499	Domain III.				blastocyst development (GO:0001824)|cellular response to amino acid stimulus (GO:0071230)|myoblast fusion (GO:0007520)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of cytoskeleton organization (GO:0051493)|response to hypoxia (GO:0001666)	chromatin (GO:0000785)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|cytoskeletal protein binding (GO:0008092)			breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		ATTTCTGCATCCGGGTCTTTT	0.577																																																	0													56.0	57.0	57.0					1																	223947151		2203	4300	6503	SO:0001819	synonymous_variant	824			J04700	CCDS31035.1, CCDS53478.1	1q41-q42	2013-01-10			ENSG00000162909	ENSG00000162909	3.4.22.52	"""EF-hand domain containing"""	1479	protein-coding gene	gene with protein product		114230				2852952, 2539381	Standard	NM_001748		Approved	mCANP, CANPml, CANPL2	uc001hob.4	P17655	OTTHUMG00000037376	ENST00000295006.5:c.1497C>T	1.37:g.223947151C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDG7|B7ZA96|E7ES58|Q16738|Q6PJT3|Q8WU26|Q9HBB1	Silent	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,pfscan_EF_HAND_2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.I499	ENST00000295006.5	37	c.1497	CCDS31035.1	1																																																																																			CAPN2	-	pfam_Calpain_domain_III,superfamily_Calpain_domain_III,smart_Calpain_III,prints_Calpain_cysteine_protease		0.577	CAPN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN2	HGNC	protein_coding	OTTHUMT00000090973.1	C	NM_001748		223947151	+1	no_errors	ENST00000295006	ensembl	human	known	70_37	silent	SNP	1.000	T
CASP8AP2	9994	genome.wustl.edu	37	6	90577366	90577366	+	RNA	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:90577366G>A	ENST00000551025.1	+	0	5794									caspase 8 associated protein 2											NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TCTGAAGTCAGATGGTCATCT	0.408																																					Colon(187;1656 2025 17045 31481 39901)												0													91.0	89.0	89.0					6																	90577366		1881	4109	5990			9994			AB037736		6q15	2012-04-19	2008-10-30		ENSG00000118412	ENSG00000118412			1510	protein-coding gene	gene with protein product	"""FLICE-associated huge protein"""	606880	"""CASP8 associated protein 2"""			10235259, 17245429, 17003126	Standard	NM_001137668		Approved	FLASH, CED-4, RIP25, FLJ11208, KIAA1315	uc011dzz.2	Q9UKL3	OTTHUMG00000015212		6.37:g.90577366G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000551025.1	37	NULL		6																																																																																			CASP8AP2	-	-		0.408	CASP8AP2-202	KNOWN	basic	processed_transcript	CASP8AP2	HGNC	processed_transcript		G	NM_001137667		90577366	+1	no_errors	ENST00000237177	ensembl	human	known	70_37	rna	SNP	1.000	A
CATSPERB	79820	genome.wustl.edu	37	14	92083997	92083997	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92083997C>G	ENST00000256343.3	-	20	2500	c.2344G>C	c.(2344-2346)Gat>Cat	p.D782H		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	782					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|cilium (GO:0005929)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TCAGTATCATCAAAAGTCACT	0.333																																																	0													97.0	88.0	91.0					14																	92083997		2203	4300	6503	SO:0001583	missense	79820			AK024360	CCDS32142.1	14q32.12	2012-02-22	2012-02-22	2007-10-18	ENSG00000133962	ENSG00000133962			20500	protein-coding gene	gene with protein product		611169	"""chromosome 14 open reading frame 161"", ""cation channel, sperm-associated, beta"""	C14orf161		17478420	Standard	NM_024764		Approved	FLJ14298	uc001xzs.1	Q9H7T0	OTTHUMG00000171118	ENST00000256343.3:c.2344G>C	14.37:g.92083997C>G	ENSP00000256343:p.Asp782His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV51	Missense_Mutation	SNP	superfamily_Neuraminidase	p.D782H	ENST00000256343.3	37	c.2344	CCDS32142.1	14	.	.	.	.	.	.	.	.	.	.	C	14.34	2.505673	0.44558	.	.	ENSG00000133962	ENST00000256343	T	0.57595	0.39	5.76	5.76	0.90799	.	0.273852	0.25159	N	0.032699	T	0.70876	0.3274	M	0.62723	1.935	0.44036	D	0.996762	D	0.89917	1.0	D	0.97110	1.0	T	0.71347	-0.4620	10	0.62326	D	0.03	-32.9556	16.8932	0.86093	0.0:1.0:0.0:0.0	.	782	Q9H7T0	CTSRB_HUMAN	H	782	ENSP00000256343:D782H	ENSP00000256343:D782H	D	-	1	0	CATSPERB	91153750	1.000000	0.71417	0.700000	0.30305	0.092000	0.18411	3.929000	0.56514	2.733000	0.93635	0.467000	0.42956	GAT	CATSPERB	-	NULL		0.333	CATSPERB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CATSPERB	HGNC	protein_coding	OTTHUMT00000411769.1	C	NM_024764		92083997	-1	no_errors	ENST00000256343	ensembl	human	known	70_37	missense	SNP	0.996	G
CBWD3	445571	genome.wustl.edu	37	9	70871863	70871863	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:70871863G>A	ENST00000360171.6	+	5	1008	c.457G>A	c.(457-459)Gat>Aat	p.D153N	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	153							ATP binding (GO:0005524)			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTTTTGGGTTGATGCTGAATT	0.259																																																	0													25.0	31.0	29.0					9																	70871863		2188	4257	6445	SO:0001583	missense	445571			BC069006	CCDS35038.1, CCDS35038.2	9q13	2014-05-06			ENSG00000196873	ENSG00000196873			18519	protein-coding gene	gene with protein product		611080				15233989, 12421752	Standard	XM_005277637		Approved	bA561O23.1	uc004aga.4	Q5JTY5	OTTHUMG00000184383	ENST00000360171.6:c.457G>A	9.37:g.70871863G>A	ENSP00000353295:p.Asp153Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DNG9|Q6VB91	Missense_Mutation	SNP	pfam_CobW/HypB/UreG_dom,pfam_Cbl_biosynth_CobW-like_C,superfamily_Cbl_biosynth_CobW-like_C,smart_Cbl_biosynth_CobW-like_C	p.D153N	ENST00000360171.6	37	c.457	CCDS35038.1	9	.	.	.	.	.	.	.	.	.	.	.	18.99	3.740497	0.69304	.	.	ENSG00000196873	ENST00000360171;ENST00000447896;ENST00000455061;ENST00000455820;ENST00000377344	T	0.43294	0.95	3.38	2.44	0.29823	Cobalamin (vitamin B12) biosynthesis CobW-like (1);	0.051059	0.85682	D	0.000000	T	0.53400	0.1794	M	0.69185	2.1	0.80722	D	1	P;B	0.46457	0.878;0.35	P;P	0.57324	0.818;0.521	T	0.57189	-0.7854	10	0.72032	D	0.01	-29.8837	9.156	0.36994	0.1167:0.0:0.8833:0.0	.	153;153	E7ETY5;Q5JTY5	.;CBWD3_HUMAN	N	153;153;153;153;117	ENSP00000353295:D153N	ENSP00000353295:D153N	D	+	1	0	CBWD3	70061683	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.050000	0.76620	1.602000	0.50124	0.305000	0.20034	GAT	CBWD3	-	pfam_CobW/HypB/UreG_dom		0.259	CBWD3-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	CBWD3	HGNC	protein_coding	OTTHUMT00000052526.1	G	NM_201453		70871863	+1	no_errors	ENST00000360171	ensembl	human	known	70_37	missense	SNP	1.000	A
CBX7	23492	genome.wustl.edu	37	22	39530549	39530549	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:39530549G>A	ENST00000216133.5	-	5	660	c.455C>T	c.(454-456)tCg>tTg	p.S152L	CBX7_ENST00000475962.1_Intron|CBX7_ENST00000401405.3_Intron	NM_175709.3	NP_783640.1	O95931	CBX7_HUMAN	chromobox homolog 7	152					chromatin modification (GO:0016568)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|sebaceous gland development (GO:0048733)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)	chromatin binding (GO:0003682)|single-stranded RNA binding (GO:0003727)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	Melanoma(58;0.04)					CTTCTTGCGCGAGAGCCGCAG	0.701																																					GBM(46;845 904 3560 9866 23971)												0													18.0	21.0	20.0					22																	39530549		2198	4294	6492	SO:0001583	missense	23492				CCDS13986.1	22q13.1	2010-07-06			ENSG00000100307	ENSG00000100307			1557	protein-coding gene	gene with protein product		608457					Standard	NM_175709		Approved		uc003axb.3	O95931	OTTHUMG00000150418	ENST00000216133.5:c.455C>T	22.37:g.39530549G>A	ENSP00000216133:p.Ser152Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86T17	Missense_Mutation	SNP	pfam_Chromo_domain,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,pfscan_Chromo_domain/shadow,prints_Chromo_dom_subgr	p.S152L	ENST00000216133.5	37	c.455	CCDS13986.1	22	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822155	0.50739	.	.	ENSG00000100307	ENST00000216133	T	0.32753	1.44	4.55	4.55	0.56014	.	0.919125	0.09439	N	0.802042	T	0.40498	0.1119	L	0.29908	0.895	0.80722	D	1	D	0.69078	0.997	P	0.54664	0.758	T	0.28681	-1.0036	10	0.39692	T	0.17	.	18.1875	0.89796	0.0:0.0:1.0:0.0	.	152	O95931	CBX7_HUMAN	L	152	ENSP00000216133:S152L	ENSP00000216133:S152L	S	-	2	0	CBX7	37860495	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.272000	0.65559	2.493000	0.84123	0.561000	0.74099	TCG	CBX7	-	NULL		0.701	CBX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBX7	HGNC	protein_coding	OTTHUMT00000318020.1	G	NM_175709		39530549	-1	no_errors	ENST00000216133	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC108	255101	genome.wustl.edu	37	2	219868819	219868819	+	Missense_Mutation	SNP	C	C	T	rs111416503	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:219868819C>T	ENST00000341552.5	-	33	5493	c.5410G>A	c.(5410-5412)Gag>Aag	p.E1804K	MIR375_ENST00000362103.2_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.E1804K|CCDC108_ENST00000453220.1_Missense_Mutation_p.E1804K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1804	Glu-rich.					integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		tcttccttctcatccctctcc	0.557																																																	0								C	LYS/GLU	1,4405	2.1+/-5.4	0,1,2202	175.0	161.0	166.0		5410	3.1	0.0	2	dbSNP_132	166	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CCDC108	NM_194302.2	56	0,4,6499	TT,TC,CC		0.0349,0.0227,0.0308	benign	1804/1926	219868819	4,13002	2203	4300	6503	SO:0001583	missense	255101			NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.5410G>A	2.37:g.219868819C>T	ENSP00000340776:p.Glu1804Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Missense_Mutation	SNP	superfamily_PapD-like,pfscan_Major_sperm	p.E1804K	ENST00000341552.5	37	c.5410	CCDS2430.2	2	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835731	0.32421	2.27E-4	3.49E-4	ENSG00000181378	ENST00000341552;ENST00000441968;ENST00000453220	T;T;T	0.07216	3.21;3.21;3.21	3.07	3.07	0.35406	.	1.560380	0.04408	N	0.365473	T	0.07369	0.0186	N	0.22421	0.69	0.18873	N	0.999989	B	0.31548	0.328	B	0.33254	0.16	T	0.32640	-0.9899	10	0.19590	T	0.45	-0.0358	8.072	0.30695	0.2422:0.7578:0.0:0.0	.	1804	Q6ZU64	CC108_HUMAN	K	1804	ENSP00000340776:E1804K;ENSP00000413377:E1804K;ENSP00000409117:E1804K	ENSP00000340776:E1804K	E	-	1	0	CCDC108	219577063	0.004000	0.15560	0.008000	0.14137	0.068000	0.16541	0.880000	0.28159	1.655000	0.50712	0.561000	0.74099	GAG	CCDC108	-	NULL		0.557	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC108	HGNC	protein_coding	OTTHUMT00000256598.4	C	NM_194302		219868819	-1	no_errors	ENST00000341552	ensembl	human	known	70_37	missense	SNP	0.044	T
CCDC109B	55013	genome.wustl.edu	37	4	110585445	110585445	+	Splice_Site	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:110585445G>C	ENST00000394650.4	+	4	479		c.e4-1			NM_017918.4	NP_060388.2	Q9NWR8	MCUB_HUMAN	coiled-coil domain containing 109B						mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)	calcium channel complex (GO:0034704)|integral component of mitochondrial inner membrane (GO:0031305)|intrinsic component of membrane (GO:0031224)|mitochondrion (GO:0005739)|uniplex complex (GO:1990246)	calcium channel inhibitor activity (GO:0019855)			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		TTTTCTTTCAGATGGCAACAT	0.313																																																	0													118.0	111.0	113.0					4																	110585445		2202	4300	6502	SO:0001630	splice_region_variant	55013			BC002633	CCDS3683.2	4q25	2011-05-24			ENSG00000005059	ENSG00000005059			26076	protein-coding gene	gene with protein product						12477932	Standard	NM_017918		Approved	FLJ20647	uc011cfs.2	Q9NWR8	OTTHUMG00000161103	ENST00000394650.4:c.347-1G>C	4.37:g.110585445G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Y3|Q6IAC1	Splice_Site	SNP	-	e4-1	ENST00000394650.4	37	c.347-1	CCDS3683.2	4	.	.	.	.	.	.	.	.	.	.	G	16.22	3.060807	0.55432	.	.	ENSG00000005059	ENST00000394650;ENST00000452915	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.4485	0.94857	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC109B	110804894	1.000000	0.71417	1.000000	0.80357	0.579000	0.36224	6.368000	0.73104	2.574000	0.86865	0.655000	0.94253	.	CCDC109B	-	-		0.313	CCDC109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC109B	HGNC	protein_coding	OTTHUMT00000254865.1	G	NM_017918	Intron	110585445	+1	no_errors	ENST00000394650	ensembl	human	known	70_37	splice_site	SNP	1.000	C
CCDC116	164592	genome.wustl.edu	37	22	21991321	21991321	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:21991321G>A	ENST00000292779.3	+	5	1965	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K		NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	0										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					gttcaaggatgaagaccagga	0.572																																																	0													39.0	30.0	33.0					22																	21991321		2203	4298	6501	SO:0001583	missense	164592			BC033499	CCDS13791.1	22q11.21	2006-06-27			ENSG00000161180	ENSG00000161180			26688	protein-coding gene	gene with protein product						12477932	Standard	NM_152612		Approved	FLJ36046	uc002zve.3	Q8IYX3	OTTHUMG00000150821	ENST00000292779.3:c.1804G>A	22.37:g.21991321G>A	ENSP00000292779:p.Glu602Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N9Y9	Missense_Mutation	SNP	NULL	p.E602K	ENST00000292779.3	37	c.1804	CCDS13791.1	22	.	.	.	.	.	.	.	.	.	.	G	10.49	1.365925	0.24684	.	.	ENSG00000161180	ENST00000292779	T	0.17213	2.29	3.29	3.29	0.37713	.	.	.	.	.	T	0.16257	0.0391	.	.	.	0.09310	N	1	P	0.50819	0.939	P	0.45474	0.482	T	0.08166	-1.0735	8	0.33940	T	0.23	-15.748	10.2328	0.43264	0.0:0.0:1.0:0.0	.	602	Q8IYX3-2	.	K	602	ENSP00000292779:E602K	ENSP00000292779:E602K	E	+	1	0	CCDC116	20321321	0.006000	0.16342	0.008000	0.14137	0.031000	0.12232	1.121000	0.31283	1.863000	0.54032	0.491000	0.48974	GAA	CCDC116	-	NULL		0.572	CCDC116-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC116	HGNC	protein_coding	OTTHUMT00000320199.1	G	NM_152612		21991321	+1	no_errors	ENST00000292779	ensembl	human	known	70_37	missense	SNP	0.010	A
CCDC120	90060	genome.wustl.edu	37	X	48922603	48922603	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:48922603C>G	ENST00000376396.3	+	7	875	c.656C>G	c.(655-657)tCa>tGa	p.S219*	CCDC120_ENST00000597275.1_Nonsense_Mutation_p.S219*|CCDC120_ENST00000603986.1_Nonsense_Mutation_p.S254*|CCDC120_ENST00000496529.2_Nonsense_Mutation_p.S219*|CCDC120_ENST00000536628.2_Nonsense_Mutation_p.S207*|CCDC120_ENST00000422185.2_Nonsense_Mutation_p.S219*	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	219										breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AGCTCCCTCTCAGAGTCTGGG	0.607																																																	0													98.0	75.0	83.0					X																	48922603		2203	4300	6503	SO:0001587	stop_gained	90060			BC008769	CCDS14316.1, CCDS55413.1, CCDS55414.1, CCDS55414.2	Xp11.23	2008-02-05			ENSG00000147144	ENSG00000147144			28910	protein-coding gene	gene with protein product						12477932	Standard	NM_033626		Approved	JM11	uc011mmr.3	Q96HB5	OTTHUMG00000021509	ENST00000376396.3:c.656C>G	X.37:g.48922603C>G	ENSP00000365577:p.Ser219*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFC1|B4DTU2|F5GZU4	Nonsense_Mutation	SNP	pfam_DUF3338	p.S219*	ENST00000376396.3	37	c.656	CCDS14316.1	X	.	.	.	.	.	.	.	.	.	.	C	37	6.614537	0.97705	.	.	ENSG00000147144	ENST00000376396;ENST00000422185;ENST00000536628	.	.	.	3.85	3.85	0.44370	.	0.197157	0.32802	N	0.005629	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-5.4164	12.7259	0.57170	0.0:1.0:0.0:0.0	.	.	.	.	X	219;219;207	.	ENSP00000365577:S219X	S	+	2	0	CCDC120	48809547	1.000000	0.71417	1.000000	0.80357	0.860000	0.49131	2.362000	0.44169	1.880000	0.54463	0.292000	0.19580	TCA	CCDC120	-	NULL		0.607	CCDC120-001	KNOWN	basic|CCDS	protein_coding	CCDC120	HGNC	protein_coding	OTTHUMT00000056528.1	C	NM_033626		48922603	+1	no_errors	ENST00000422185	ensembl	human	known	70_37	nonsense	SNP	1.000	G
CCDC14	64770	genome.wustl.edu	37	3	123675218	123675218	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:123675218G>C	ENST00000488653.2	-	3	377	c.287C>G	c.(286-288)tCt>tGt	p.S96C	CCDC14_ENST00000485727.1_5'UTR|CCDC14_ENST00000433542.2_Missense_Mutation_p.S96C|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000489746.1_5'UTR			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	96					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		TTCTGAATCAGAATGGATGGA	0.279																																																	0													63.0	61.0	61.0					3																	123675218		692	1583	2275	SO:0001583	missense	64770			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.287C>G	3.37:g.123675218G>C	ENSP00000420180:p.Ser96Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.S96C	ENST00000488653.2	37	c.287		3	.	.	.	.	.	.	.	.	.	.	G	17.71	3.455864	0.63401	.	.	ENSG00000175455	ENST00000488653;ENST00000433542;ENST00000409697	T;T;T	0.68624	0.12;-0.34;0.12	5.43	5.43	0.79202	.	.	.	.	.	T	0.77315	0.4112	M	0.63843	1.955	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.78365	-0.2232	9	0.87932	D	0	.	10.0432	0.42171	0.0884:0.0:0.9116:0.0	.	96;96	Q49A88;Q49A88-6	CCD14_HUMAN;.	C	96;96;77	ENSP00000420180:S96C;ENSP00000395706:S96C;ENSP00000386866:S77C	ENSP00000386866:S77C	S	-	2	0	CCDC14	125157908	1.000000	0.71417	0.997000	0.53966	0.803000	0.45373	4.977000	0.63792	2.824000	0.97209	0.655000	0.94253	TCT	CCDC14	-	NULL		0.279	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		G	NM_022757		123675218	-1	no_errors	ENST00000488653	ensembl	human	known	70_37	missense	SNP	0.994	C
CCDC150	284992	genome.wustl.edu	37	2	197596856	197596856	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:197596856G>A	ENST00000389175.4	+	27	3304	c.3169G>A	c.(3169-3171)Gaa>Aaa	p.E1057K	CCDC150_ENST00000272831.7_Missense_Mutation_p.E704K|CCDC150_ENST00000409270.1_Missense_Mutation_p.E544K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	1057										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCCTTCTGGGGAAGACAGGTG	0.423																																																	0													90.0	91.0	91.0					2																	197596856		1855	4099	5954	SO:0001583	missense	284992				CCDS46478.1	2q33.1	2008-04-10			ENSG00000144395	ENSG00000144395			26834	protein-coding gene	gene with protein product							Standard	NM_001080539		Approved	FLJ39660	uc002utp.1	Q8NCX0	OTTHUMG00000154475	ENST00000389175.4:c.3169G>A	2.37:g.197596856G>A	ENSP00000373827:p.Glu1057Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P5U6|Q6P663|Q8N8V5	Missense_Mutation	SNP	NULL	p.E1057K	ENST00000389175.4	37	c.3169	CCDS46478.1	2	.	.	.	.	.	.	.	.	.	.	G	20.7	4.042037	0.75732	.	.	ENSG00000144395	ENST00000272831;ENST00000389175;ENST00000409270	T	0.54675	0.56	5.29	4.38	0.52667	.	0.117721	0.38217	N	0.001764	T	0.66636	0.2809	L	0.60455	1.87	0.80722	D	1	D;D	0.89917	0.974;1.0	P;D	0.85130	0.747;0.997	T	0.63812	-0.6552	10	0.39692	T	0.17	-8.3249	13.4532	0.61182	0.0:0.1561:0.8439:0.0	.	704;1057	B4DZ03;Q8NCX0	.;CC150_HUMAN	K	704;1057;544	ENSP00000373827:E1057K	ENSP00000272831:E704K	E	+	1	0	CCDC150	197305101	1.000000	0.71417	0.999000	0.59377	0.722000	0.41435	3.521000	0.53472	2.759000	0.94783	0.555000	0.69702	GAA	CCDC150	-	NULL		0.423	CCDC150-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	CCDC150	HGNC	protein_coding	OTTHUMT00000335377.2	G	NM_001080539		197596856	+1	no_errors	ENST00000389175	ensembl	human	known	70_37	missense	SNP	0.968	A
CCDC168	643677	genome.wustl.edu	37	13	103388334	103388334	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:103388334C>G	ENST00000322527.2	-	1	825	c.826G>C	c.(826-828)Gag>Cag	p.E276Q		NM_001146197.1	NP_001139669.1	Q8NDH2	CC168_HUMAN	coiled-coil domain containing 168	276																	GGGAGTGCCTCTGCCCTCAAA	0.433																																																	0													197.0	171.0	179.0					13																	103388334		692	1591	2283	SO:0001583	missense	643677				CCDS73596.1	13q33.1	2014-06-17	2011-08-09	2011-08-09	ENSG00000175820	ENSG00000175820			26851	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 40"""	C13orf40			Standard	NM_001146197		Approved	FLJ40176	uc001vpm.3	Q8NDH2	OTTHUMG00000187287	ENST00000322527.2:c.826G>C	13.37:g.103388334C>G	ENSP00000320232:p.Glu276Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N800	Missense_Mutation	SNP	NULL	p.E276Q	ENST00000322527.2	37	c.826		13	.	.	.	.	.	.	.	.	.	.	C	1.329	-0.597256	0.03771	.	.	ENSG00000175820	ENST00000322527	T	0.03831	3.79	3.75	-1.69	0.08186	.	1.477720	0.04618	N	0.401444	T	0.02380	0.0073	N	0.14661	0.345	0.09310	N	1	P	0.37101	0.582	B	0.31614	0.133	T	0.40059	-0.9583	10	0.11485	T	0.65	.	4.1961	0.10443	0.0:0.2405:0.376:0.3835	.	276	Q8NDH2	CC168_HUMAN	Q	276	ENSP00000320232:E276Q	ENSP00000320232:E276Q	E	-	1	0	CCDC168	102186335	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-0.341000	0.07811	-0.354000	0.08212	0.404000	0.27445	GAG	CCDC168	-	NULL		0.433	CCDC168-201	KNOWN	basic|appris_principal	protein_coding	CCDC168	HGNC	protein_coding		C	NM_001146197		103388334	-1	no_errors	ENST00000322527	ensembl	human	known	70_37	missense	SNP	0.001	G
CCDC3	83643	genome.wustl.edu	37	10	12940471	12940471	+	Missense_Mutation	SNP	G	G	A	rs368910799		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:12940471G>A	ENST00000378825.3	-	3	884	c.758C>T	c.(757-759)gCg>gTg	p.A253V	CCDC3_ENST00000378839.1_Missense_Mutation_p.A128V	NM_031455.3	NP_113643.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	253						endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			GTGCGGCAGCGCGCCCGCCGC	0.682																																																	0								G	VAL/ALA	1,4401		0,1,2200	28.0	32.0	30.0		758	2.8	0.0	10		30	1,8597		0,1,4298	no	missense	CCDC3	NM_031455.3	64	0,2,6498	AA,AG,GG		0.0116,0.0227,0.0154	benign	253/271	12940471	2,12998	2201	4299	6500	SO:0001583	missense	83643			BC051334	CCDS7093.1, CCDS60484.1	10p14	2004-02-13			ENSG00000151468	ENSG00000151468			23813	protein-coding gene	gene with protein product							Standard	NM_031455		Approved	DKFZp761F241	uc001ilq.1	Q9BQI4	OTTHUMG00000017689	ENST00000378825.3:c.758C>T	10.37:g.12940471G>A	ENSP00000368102:p.Ala253Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYV8|Q5VYV9	Missense_Mutation	SNP	NULL	p.A253V	ENST00000378825.3	37	c.758	CCDS7093.1	10	.	.	.	.	.	.	.	.	.	.	G	15.78	2.934856	0.52866	2.27E-4	1.16E-4	ENSG00000151468	ENST00000378839;ENST00000378825	.	.	.	4.88	2.8	0.32819	.	0.832849	0.10655	N	0.649380	T	0.24005	0.0581	L	0.44542	1.39	0.09310	N	1	P	0.43885	0.82	B	0.35413	0.202	T	0.07927	-1.0747	9	0.21540	T	0.41	-1.5668	6.0544	0.19802	0.0:0.1559:0.5338:0.3103	.	253	Q9BQI4	CCDC3_HUMAN	V	128;253	.	ENSP00000368102:A253V	A	-	2	0	CCDC3	12980477	0.000000	0.05858	0.001000	0.08648	0.485000	0.33311	0.134000	0.15932	1.040000	0.40099	0.561000	0.74099	GCG	CCDC3	-	NULL		0.682	CCDC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC3	HGNC	protein_coding	OTTHUMT00000046829.1	G	NM_031455		12940471	-1	no_errors	ENST00000378825	ensembl	human	known	70_37	missense	SNP	0.004	A
CCDC33	80125	genome.wustl.edu	37	15	74623334	74623334	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:74623334G>C	ENST00000398814.3	+	14	1989	c.1558G>C	c.(1558-1560)Gag>Cag	p.E520Q	CCDC33_ENST00000558821.1_Missense_Mutation_p.E113Q|CCDC33_ENST00000268082.4_Missense_Mutation_p.E113Q|CCDC33_ENST00000321288.5_Missense_Mutation_p.E723Q	NM_025055.3	NP_079331.3	Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	723										breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GAATGATCGAGAGAAGGAGCT	0.607																																																	0													19.0	22.0	21.0					15																	74623334		1992	4171	6163	SO:0001583	missense	80125			BC025689	CCDS42058.1, CCDS42059.1, CCDS73753.1	15q24.1	2009-08-06				ENSG00000140481			26552	protein-coding gene	gene with protein product	"""cancer/testis antigen 61"""					12477932	Standard	NM_025055		Approved	FLJ32855, CT61	uc002axo.4	Q8N5R6		ENST00000398814.3:c.1558G>C	15.37:g.74623334G>C	ENSP00000381795:p.Glu520Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3U4|A8MPQ6|A8MV61|A8MVU9|B3KQ49|Q8TAX6|Q9H5Q6	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.E723Q	ENST00000398814.3	37	c.2167	CCDS42058.1	15	.	.	.	.	.	.	.	.	.	.	G	20.5	4.002575	0.74932	.	.	ENSG00000140481	ENST00000321288;ENST00000398814;ENST00000321374;ENST00000268082	T;T;T;T	0.65549	1.29;0.15;-0.11;-0.16	4.95	3.97	0.46021	.	0.062488	0.64402	D	0.000010	T	0.78381	0.4274	M	0.81942	2.565	0.44547	D	0.997505	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.91635	0.998;0.999;0.994;0.997	T	0.80054	-0.1543	10	0.48119	T	0.1	.	13.6706	0.62422	0.0:0.1563:0.8437:0.0	.	113;113;723;520	Q8N5R6-4;Q8N5R6-5;C9JFX2;Q8N5R6-6	.;.;.;.	Q	723;520;113;113	ENSP00000325012:E723Q;ENSP00000381795:E520Q;ENSP00000325661:E113Q;ENSP00000268082:E113Q	ENSP00000268082:E113Q	E	+	1	0	CCDC33	72410387	1.000000	0.71417	0.992000	0.48379	0.943000	0.58893	5.119000	0.64679	2.292000	0.77174	0.551000	0.68910	GAG	CCDC33	-	NULL		0.607	CCDC33-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CCDC33	HGNC	protein_coding	OTTHUMT00000419491.2	G	NM_182791		74623334	+1	no_errors	ENST00000321288	ensembl	human	known	70_37	missense	SNP	0.997	C
CCDC57	284001	genome.wustl.edu	37	17	80059623	80059623	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80059623G>A	ENST00000389641.4	-	18	2722	c.2686C>T	c.(2686-2688)Cat>Tat	p.H896Y	CCDC57_ENST00000392347.1_Missense_Mutation_p.H896Y			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	896										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			TTTGCAGGATGAGACCGGGAG	0.607																																																	0													90.0	100.0	97.0					17																	80059623		1950	4141	6091	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.2686C>T	17.37:g.80059623G>A	ENSP00000374292:p.His896Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.H896Y	ENST00000389641.4	37	c.2686		17	.	.	.	.	.	.	.	.	.	.	g	5.570	0.289984	0.10567	.	.	ENSG00000176155	ENST00000389641;ENST00000392347	T;T	0.12361	2.69;2.69	3.26	2.26	0.28386	.	.	.	.	.	T	0.14485	0.0350	L	0.27053	0.805	0.20926	N	0.999826	D	0.60160	0.987	P	0.52343	0.696	T	0.14392	-1.0474	9	0.41790	T	0.15	.	7.6562	0.28377	0.1296:0.0:0.8704:0.0	.	896	Q2TAC2	CCD57_HUMAN	Y	896	ENSP00000374292:H896Y;ENSP00000376158:H896Y	ENSP00000374292:H896Y	H	-	1	0	CCDC57	77652912	0.001000	0.12720	0.004000	0.12327	0.010000	0.07245	0.989000	0.29629	0.484000	0.27630	0.457000	0.33378	CAT	CCDC57	-	NULL		0.607	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	G	NM_198082		80059623	-1	no_errors	ENST00000389641	ensembl	human	known	70_37	missense	SNP	0.003	A
CCDC60	160777	genome.wustl.edu	37	12	119961580	119961580	+	Missense_Mutation	SNP	G	G	C	rs562474676		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:119961580G>C	ENST00000327554.2	+	11	1651	c.1186G>C	c.(1186-1188)Gag>Cag	p.E396Q	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	396										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CGTAGCCCAGGAGGCTGGCTT	0.463																																																	0													103.0	84.0	90.0					12																	119961580		2203	4300	6503	SO:0001583	missense	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.1186G>C	12.37:g.119961580G>C	ENSP00000333374:p.Glu396Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E396Q	ENST00000327554.2	37	c.1186	CCDS9190.1	12	.	.	.	.	.	.	.	.	.	.	G	17.15	3.316230	0.60524	.	.	ENSG00000183273	ENST00000327554	T	0.34275	1.37	4.16	4.16	0.48862	.	0.000000	0.51477	D	0.000084	T	0.57388	0.2050	M	0.76002	2.32	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59456	-0.7451	9	.	.	.	-29.7369	11.8272	0.52273	0.0:0.0:1.0:0.0	.	396	Q8IWA6	CCD60_HUMAN	Q	396	ENSP00000333374:E396Q	.	E	+	1	0	CCDC60	118445963	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	4.100000	0.57762	2.156000	0.67533	0.655000	0.94253	GAG	CCDC60	-	NULL		0.463	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC60	HGNC	protein_coding	OTTHUMT00000401680.1	G	NM_178499		119961580	+1	no_errors	ENST00000327554	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC88B	283234	genome.wustl.edu	37	11	64112488	64112488	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64112488G>A	ENST00000356786.5	+	14	2519	c.2475G>A	c.(2473-2475)cgG>cgA	p.R825R	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	825						membrane (GO:0016020)				endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCCGGGAGCGGAGGCAGTGGG	0.736																																																	0													6.0	7.0	6.0					11																	64112488		2025	3993	6018	SO:0001819	synonymous_variant	283234			AK090436	CCDS8072.2	11q13.1	2013-03-13	2007-05-31	2007-05-31	ENSG00000168071	ENSG00000168071			26757	protein-coding gene	gene with protein product	"""brain leucine zipper protein"", ""GRP78-interacting protein induced by ER stress"""	611205	"""coiled-coil domain containing 88"""	CCDC88		15882442, 21289099	Standard	NM_032251		Approved	FLJ37970, BRLZ, HkRP3, FLJ00354, GIPIE	uc001nzy.3	A6NC98	OTTHUMG00000045419	ENST00000356786.5:c.2475G>A	11.37:g.64112488G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8Y5|B5MDM2|Q05BL2|Q6RUV3|Q8N1Q6|Q8NF44|Q9H0H1	Silent	SNP	pfam_HOOK	p.R825	ENST00000356786.5	37	c.2475	CCDS8072.2	11																																																																																			CCDC88B	-	NULL		0.736	CCDC88B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC88B	HGNC	protein_coding	OTTHUMT00000104845.1	G	NM_032251		64112488	+1	no_errors	ENST00000356786	ensembl	human	known	70_37	silent	SNP	0.968	A
CCPG1	9236	genome.wustl.edu	37	15	55664079	55664079	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:55664079C>G	ENST00000310958.6	-	6	916	c.618G>C	c.(616-618)ttG>ttC	p.L206F	DYX1C1-CCPG1_ENST00000565113.1_RNA|MIR628_ENST00000385229.1_RNA|CCPG1_ENST00000442196.3_Missense_Mutation_p.L206F|CCPG1_ENST00000425574.3_Missense_Mutation_p.L206F|CCPG1_ENST00000569205.1_Missense_Mutation_p.L206F	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	206	Interaction with MCF2L and SRC. {ECO:0000250}.				cell cycle (GO:0007049)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of Rho guanyl-nucleotide exchange factor activity (GO:2001106)	integral component of membrane (GO:0016021)				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GACGTTTACTCAACTCCTTAG	0.438																																																	0													120.0	108.0	111.0					15																	55664079		1882	4107	5989	SO:0001583	missense	9236			AF212228	CCDS42039.1, CCDS55966.1, CCDS55967.1	15q21.1	2011-04-20				ENSG00000260916			24227	protein-coding gene	gene with protein product		611326				9383053, 10574462	Standard	NM_004748		Approved	KIAA1254, CPR8	uc010bfk.2	Q9ULG6		ENST00000310958.6:c.618G>C	15.37:g.55664079C>G	ENSP00000311656:p.Leu206Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJH3|A8K9T0|O14712|Q05DG4|Q5U5S7|Q8IYV8|Q9BY53|Q9HA17	Missense_Mutation	SNP	NULL	p.L206F	ENST00000310958.6	37	c.618	CCDS42039.1	15	.	.	.	.	.	.	.	.	.	.	C	10.47	1.359008	0.24598	.	.	ENSG00000256061	ENST00000310958;ENST00000442196;ENST00000425574	T;T;T	0.30981	3.84;3.84;1.51	5.52	1.43	0.22495	.	1.078510	0.07282	N	0.870860	T	0.32194	0.0821	L	0.51422	1.61	0.09310	N	1	P;D;P;P	0.58620	0.911;0.983;0.911;0.911	B;P;B;B	0.53861	0.382;0.736;0.382;0.382	T	0.17745	-1.0359	10	0.10111	T	0.7	.	1.7312	0.02932	0.1318:0.4385:0.1284:0.3014	.	206;206;206;62	A8K9T0;Q9ULG6-3;Q9ULG6;Q9ULG6-2	.;.;CCPG1_HUMAN;.	F	206	ENSP00000311656:L206F;ENSP00000403400:L206F;ENSP00000415128:L206F	ENSP00000311656:L206F	L	-	3	2	DYX1C1	53451371	0.000000	0.05858	0.000000	0.03702	0.407000	0.30961	0.076000	0.14712	0.015000	0.14971	0.655000	0.94253	TTG	CCPG1	-	NULL		0.438	CCPG1-001	KNOWN	basic|CCDS	protein_coding	CCPG1	HGNC	protein_coding	OTTHUMT00000419850.1	C	NM_004748		55664079	-1	no_errors	ENST00000310958	ensembl	human	known	70_37	missense	SNP	0.000	G
CCT6B	10693	genome.wustl.edu	37	17	33267634	33267634	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:33267634C>G	ENST00000314144.5	-	8	1007	c.892G>C	c.(892-894)Gat>Cat	p.D298H	CCT6B_ENST00000421975.3_Missense_Mutation_p.D261H|CCT6B_ENST00000436961.3_Missense_Mutation_p.D253H	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	298					chaperone-mediated protein complex assembly (GO:0051131)|protein folding (GO:0006457)|protein transport (GO:0015031)|spermatogenesis (GO:0007283)	chaperonin-containing T-complex (GO:0005832)	ATP binding (GO:0005524)|protein transporter activity (GO:0008565)|unfolded protein binding (GO:0051082)			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GAAAATGGATCAATTCCCTAT	0.303																																																	0													55.0	60.0	58.0					17																	33267634		2203	4293	6496	SO:0001583	missense	10693			D78333	CCDS32617.1, CCDS54105.1, CCDS54106.1	17q	2011-09-02			ENSG00000132141	ENSG00000132141		"""Heat Shock Proteins / Chaperonins"""	1621	protein-coding gene	gene with protein product		610730				8812458, 9013858	Standard	NM_006584		Approved	Cctz2, TSA303	uc002hig.3	Q92526		ENST00000314144.5:c.892G>C	17.37:g.33267634C>G	ENSP00000327191:p.Asp298His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DX20|B4DYB0|Q8TC34	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.D298H	ENST00000314144.5	37	c.892	CCDS32617.1	17	.	.	.	.	.	.	.	.	.	.	C	16.15	3.040802	0.55003	.	.	ENSG00000132141	ENST00000421975;ENST00000314144;ENST00000436961	T;T;T	0.70282	-0.47;-0.47;-0.47	3.3	3.3	0.37823	.	0.088686	0.85682	D	0.000000	D	0.90280	0.6960	H	0.99535	4.615	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.994;0.999;0.999	D	0.93420	0.6776	10	0.87932	D	0	-9.4327	12.9115	0.58182	0.0:1.0:0.0:0.0	.	253;261;298	B4DYB0;B4DX20;Q92526	.;.;TCPW_HUMAN	H	261;298;253	ENSP00000398044:D261H;ENSP00000327191:D298H;ENSP00000400917:D253H	ENSP00000327191:D298H	D	-	1	0	CCT6B	30291747	1.000000	0.71417	1.000000	0.80357	0.626000	0.37791	6.886000	0.75611	2.156000	0.67533	0.460000	0.39030	GAT	CCT6B	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta		0.303	CCT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6B	HGNC	protein_coding	OTTHUMT00000448014.1	C	NM_006584		33267634	-1	no_errors	ENST00000314144	ensembl	human	known	70_37	missense	SNP	1.000	G
CCZ1B	221960	genome.wustl.edu	37	7	6859533	6859533	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6859533C>A	ENST00000316731.8	-	7	1134	c.562G>T	c.(562-564)Gac>Tac	p.D188Y	CCZ1B_ENST00000538180.1_Missense_Mutation_p.D45Y	NM_198097.3	NP_932765.1	P86790	CCZ1B_HUMAN	CCZ1 vacuolar protein trafficking and biogenesis associated homolog B (S. cerevisiae)	188						lysosome (GO:0005764)|membrane (GO:0016020)											CCAAAAATGTCAAGTAGGTCA	0.333																																																	0													52.0	51.0	52.0					7																	6859533		2179	4288	6467	SO:0001583	missense	221960			BC010130	CCDS5354.1	7p22.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000146574	ENSG00000146574			21717	protein-coding gene	gene with protein product	"""similar to CGI-43 protein"""		"""chromosome 7 open reading frame 28B"""	C7orf28B		12477932	Standard	NM_198097		Approved	DKFZP586I1023, H_NH0577018.2, MGC19819	uc003sqx.2	P86790	OTTHUMG00000152441	ENST00000316731.8:c.562G>T	7.37:g.6859533C>A	ENSP00000314544:p.Asp188Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU45|O95766|Q9UG65|Q9Y359	Missense_Mutation	SNP	pfam_DUF1712_fun	p.D188Y	ENST00000316731.8	37	c.562	CCDS5354.1	7	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021744	0.54576	.	.	ENSG00000146574	ENST00000316731;ENST00000538180	.	.	.	2.72	2.72	0.32119	.	0.000000	0.85682	D	0.000000	T	0.65585	0.2705	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.69150	-0.5221	6	0.59425	D	0.04	-24.884	11.2352	0.48936	0.0:1.0:0.0:0.0	.	.	.	.	Y	188;45	.	ENSP00000314544:D188Y	D	-	1	0	C7orf28B	6826058	1.000000	0.71417	0.976000	0.42696	0.705000	0.40729	7.251000	0.78297	1.521000	0.48983	0.194000	0.17425	GAC	CCZ1B	-	pfam_DUF1712_fun		0.333	CCZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCZ1B	HGNC	protein_coding	OTTHUMT00000246858.1	C	NM_198097		6859533	-1	no_errors	ENST00000316731	ensembl	human	known	70_37	missense	SNP	1.000	A
CD97	976	genome.wustl.edu	37	19	14517894	14517894	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14517894C>T	ENST00000242786.5	+	18	2309	c.2229C>T	c.(2227-2229)atC>atT	p.I743I	DDX39A_ENST00000592927.1_5'Flank|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.I694I|CD97_ENST00000358600.3_Silent_p.I650I	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	743					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCACGGCCATCGCGCAGCTCT	0.637																																																	0													114.0	81.0	92.0					19																	14517894		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2229C>T	19.37:g.14517894C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.I743	ENST00000242786.5	37	c.2229	CCDS32929.1	19																																																																																			CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt		0.637	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14517894	+1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.149	T
CD97	976	genome.wustl.edu	37	19	14517903	14517903	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14517903C>T	ENST00000242786.5	+	18	2318	c.2238C>T	c.(2236-2238)ctC>ctT	p.L746L	DDX39A_ENST00000592927.1_5'Flank|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.L697L|CD97_ENST00000358600.3_Silent_p.L653L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	746					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCGCGCAGCTCTTCCTGTTGG	0.647																																																	0													130.0	93.0	105.0					19																	14517903		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2238C>T	19.37:g.14517903C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L746	ENST00000242786.5	37	c.2238	CCDS32929.1	19																																																																																			CD97	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt		0.647	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14517903	+1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	1.000	T
CD97	976	genome.wustl.edu	37	19	14518909	14518909	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14518909C>T	ENST00000242786.5	+	20	2564	c.2484C>T	c.(2482-2484)ctC>ctT	p.L828L	DDX39A_ENST00000592927.1_5'Flank|CTC-548K16.5_ENST00000590626.1_RNA|CD97_ENST00000357355.3_Silent_p.L779L|CD97_ENST00000358600.3_Silent_p.L735L	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	828					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular component movement (GO:0006928)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|inflammatory response (GO:0006954)|neuropeptide signaling pathway (GO:0007218)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TCCAGGCCCTCAGGGCATCAG	0.652																																																	0													48.0	51.0	50.0					19																	14518909		2203	4300	6503	SO:0001819	synonymous_variant	976				CCDS32929.1, CCDS32930.1, CCDS32931.1	19p13	2014-08-08	2006-03-28			ENSG00000123146		"""CD molecules"", ""-"", ""GPCR / Class B : Orphans"""	1711	protein-coding gene	gene with protein product	"""leukocyte antigen CD97"", ""seven-span transmembrane protein"", ""seven-transmembrane, heterodimeric receptor associated with inflammation"", ""seven transmembrane helix receptor"""	601211	"""CD97 antigen"""			7636245, 8786105	Standard	NM_078481		Approved	TM7LN1	uc002myl.3	P48960		ENST00000242786.5:c.2484C>T	19.37:g.14518909C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7Z4|B2RBJ9|O00718|O76101|Q8NG72|Q8TBQ7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,pfam_EG-like_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_CD97,prints_GPCR_2_secretin-like,prints_GPCR_2_EMR1_rcpt	p.L828	ENST00000242786.5	37	c.2484	CCDS32929.1	19																																																																																			CD97	-	NULL		0.652	CD97-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CD97	HGNC	protein_coding	OTTHUMT00000459821.2	C	NM_078481		14518909	+1	no_errors	ENST00000242786	ensembl	human	known	70_37	silent	SNP	0.998	T
CDC42BPA	8476	genome.wustl.edu	37	1	227262018	227262018	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:227262018G>A	ENST00000366769.3	-	18	3819	c.2528C>T	c.(2527-2529)tCt>tTt	p.S843F	CDC42BPA_ENST00000535525.1_Missense_Mutation_p.S843F|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.S843F|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.S843F|CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.S762F|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.S843F|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.S843F	NM_003607.3	NP_003598.2			CDC42 binding protein kinase alpha (DMPK-like)											NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AGTCATTTTAGAAGCTAAGGC	0.378																																																	0													103.0	100.0	101.0					1																	227262018		2203	4300	6503	SO:0001583	missense	8476			U59305	CCDS1558.1, CCDS1559.1	1q42.11	2011-11-23	2001-11-28		ENSG00000143776	ENSG00000143776			1737	protein-coding gene	gene with protein product	"""myotonic dystrophy kinase-related Cdc42-binding kinase"""	603412	"""CDC42-binding protein kinase alpha (DMPK-like)"""				Standard	NM_003607		Approved	MRCKA, PK428, FLJ23347, KIAA0451, MRCK	uc001hqr.3	Q5VT25	OTTHUMG00000037618	ENST00000366769.3:c.2528C>T	1.37:g.227262018G>A	ENSP00000355731:p.Ser843Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Citron,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Pkinase_C,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Kinase-like_dom,superfamily_WD40_repeat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_PAK_box_Rho-bd,pfscan_PAK_box_Rho-bd,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom	p.S843F	ENST00000366769.3	37	c.2528	CCDS1558.1	1	.	.	.	.	.	.	.	.	.	.	G	32	5.105762	0.94292	.	.	ENSG00000143776	ENST00000366769;ENST00000366767;ENST00000334218;ENST00000366766;ENST00000366764;ENST00000366762;ENST00000535525;ENST00000366765	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.56	5.56	0.83823	.	0.049845	0.85682	D	0.000000	T	0.57902	0.2085	L	0.43152	1.355	0.58432	D	0.999999	D;D;D;D;D	0.60160	0.985;0.973;0.977;0.987;0.973	P;P;D;D;P	0.64042	0.864;0.807;0.921;0.921;0.847	T	0.57866	-0.7737	10	0.72032	D	0.01	.	19.9052	0.97004	0.0:0.0:1.0:0.0	.	843;843;762;843;843	F5H5N0;Q5VT25-4;Q5VT25-3;Q5VT25-5;Q5VT25-2	.;.;.;.;.	F	843;762;843;843;843;107;843;843	ENSP00000355731:S843F;ENSP00000355729:S762F;ENSP00000335341:S843F;ENSP00000355728:S843F;ENSP00000355726:S843F;ENSP00000443275:S843F;ENSP00000355727:S843F	ENSP00000335341:S843F	S	-	2	0	CDC42BPA	225328641	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.398000	0.73244	2.776000	0.95493	0.655000	0.94253	TCT	CDC42BPA	-	NULL		0.378	CDC42BPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC42BPA	HGNC	protein_coding	OTTHUMT00000091696.1	G	NM_014826		227262018	-1	no_errors	ENST00000334218	ensembl	human	known	70_37	missense	SNP	1.000	A
CDH17	1015	genome.wustl.edu	37	8	95164299	95164299	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:95164299G>C	ENST00000027335.3	-	13	1717	c.1593C>G	c.(1591-1593)ttC>ttG	p.F531L	CDH17_ENST00000441892.2_Missense_Mutation_p.F317L|CDH17_ENST00000450165.2_Missense_Mutation_p.F531L	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	531	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|oligopeptide transmembrane transport (GO:0035672)|oligopeptide transport (GO:0006857)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|proton-dependent oligopeptide secondary active transmembrane transporter activity (GO:0005427)|transporter activity (GO:0005215)	p.F531F(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTTCTGCTTTGAACACAATGT	0.398																																																	1	Substitution - coding silent(1)	skin(1)											94.0	91.0	92.0					8																	95164299		2203	4300	6503	SO:0001583	missense	1015			X83228	CCDS6260.1	8q22.1	2010-01-26			ENSG00000079112	ENSG00000079112		"""Cadherins / Major cadherins"""	1756	protein-coding gene	gene with protein product		603017				9615235, 10191097	Standard	NM_004063		Approved	HPT-1, cadherin	uc003ygh.2	Q12864	OTTHUMG00000164391	ENST00000027335.3:c.1593C>G	8.37:g.95164299G>C	ENSP00000027335:p.Phe531Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15336|Q2M2E0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F531L	ENST00000027335.3	37	c.1593	CCDS6260.1	8	.	.	.	.	.	.	.	.	.	.	G	15.15	2.747738	0.49257	.	.	ENSG00000079112	ENST00000027335;ENST00000441892;ENST00000450165	T;T;T	0.34667	1.35;1.35;1.35	5.67	5.67	0.87782	Cadherin (4);Cadherin-like (1);	0.508000	0.18395	N	0.142540	T	0.20251	0.0487	N	0.11673	0.155	0.37081	D	0.898993	B;B	0.23990	0.067;0.095	B;B	0.25405	0.06;0.032	T	0.19484	-1.0304	10	0.19590	T	0.45	-0.9804	11.0654	0.47972	0.0846:0.0:0.9154:0.0	.	317;531	E7EN24;Q12864	.;CAD17_HUMAN	L	531;317;531	ENSP00000027335:F531L;ENSP00000392811:F317L;ENSP00000401468:F531L	ENSP00000027335:F531L	F	-	3	2	CDH17	95233475	0.990000	0.36364	0.947000	0.38551	0.984000	0.73092	1.754000	0.38369	2.836000	0.97738	0.655000	0.94253	TTC	CDH17	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.398	CDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH17	HGNC	protein_coding	OTTHUMT00000378560.1	G	NM_004063		95164299	-1	no_errors	ENST00000027335	ensembl	human	known	70_37	missense	SNP	0.986	C
CDH23	64072	genome.wustl.edu	37	10	73552953	73552953	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:73552953C>G	ENST00000224721.6	+	47	6288	c.6283C>G	c.(6283-6285)Caa>Gaa	p.Q2095E	CDH23_ENST00000398788.3_5'Flank	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2090	Cadherin 20. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium ion transport (GO:0006816)|calcium-dependent cell-cell adhesion (GO:0016339)|cytosolic calcium ion homeostasis (GO:0051480)|equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTCAGTCCTTCAAGTCACAGC	0.527																																																	0													26.0	29.0	28.0					10																	73552953		1994	4170	6164	SO:0001583	missense	64072			AY010111	CCDS53540.1, CCDS73146.1	10q22.1	2014-08-08	2010-01-25		ENSG00000107736	ENSG00000107736		"""Cadherins / Cadherin-related"""	13733	protein-coding gene	gene with protein product	"""cadherin-related family member 23"""	605516	"""cadherin related 23"", ""cadherin-like 23"""	DFNB12, USH1D		11090341	Standard	NM_022124		Approved	CDHR23	uc001jrx.4	Q9H251	OTTHUMG00000019347	ENST00000224721.6:c.6283C>G	10.37:g.73552953C>G	ENSP00000224721:p.Gln2095Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	C4IXS9|F6U049|Q5QGS1|Q5QGS2|Q5QGS5|Q5QGS6|Q5XKN2|Q6UWW1|Q96JL3|Q9H4K9	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.Q2093E	ENST00000224721.6	37	c.6277		10	.	.	.	.	.	.	.	.	.	.	C	15.12	2.740229	0.49045	.	.	ENSG00000107736	ENST00000398860;ENST00000398855;ENST00000224721	.	.	.	5.61	5.61	0.85477	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.47135	0.1429	L	0.46157	1.445	0.80722	D	1	B	0.33583	0.418	B	0.32393	0.145	T	0.40175	-0.9577	9	0.07482	T	0.82	.	14.481	0.67582	0.1469:0.8531:0.0:0.0	.	2090	Q9H251	CAD23_HUMAN	E	2095;2090;2093	.	ENSP00000224721:Q2095E	Q	+	1	0	CDH23	73222959	1.000000	0.71417	0.998000	0.56505	0.984000	0.73092	5.448000	0.66612	2.644000	0.89710	0.650000	0.86243	CAA	CDH23	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin		0.527	CDH23-001	PUTATIVE	basic|appris_principal	protein_coding	CDH23	HGNC	protein_coding	OTTHUMT00000051227.4	C	NM_052836		73552953	+1	no_errors	ENST00000224721	ensembl	human	known	70_37	missense	SNP	1.000	G
CDHR1	92211	genome.wustl.edu	37	10	85974065	85974065	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:85974065C>G	ENST00000372117.3	+	17	2371	c.2268C>G	c.(2266-2268)ctC>ctG	p.L756L	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Silent_p.L460L	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	756					cellular process (GO:0009987)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment membrane (GO:0042622)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TTGAGTGGCTCAAGTCCAAGA	0.572																																																	0													65.0	61.0	62.0					10																	85974065		2203	4300	6503	SO:0001819	synonymous_variant	92211			AB053448	CCDS7372.1, CCDS53548.1	10q23.1	2014-01-28	2010-01-25	2010-01-25	ENSG00000148600	ENSG00000148600		"""Cadherins / Cadherin-related"""	14550	protein-coding gene	gene with protein product		609502	"""protocadherin 21"""	PCDH21		11597768	Standard	NM_001171971		Approved	KIAA1775, CORD15, RP65	uc001kcv.3	Q96JP9	OTTHUMG00000018634	ENST00000372117.3:c.2268C>G	10.37:g.85974065C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YZ8|Q8IXY5	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.L756	ENST00000372117.3	37	c.2268	CCDS7372.1	10																																																																																			CDHR1	-	NULL		0.572	CDHR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR1	HGNC	protein_coding	OTTHUMT00000049111.1	C	NM_033100		85974065	+1	no_errors	ENST00000372117	ensembl	human	known	70_37	silent	SNP	0.999	G
CDHR5	53841	genome.wustl.edu	37	11	619042	619042	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:619042G>A	ENST00000358353.3	-	14	1839	c.1517C>T	c.(1516-1518)tCt>tTt	p.S506F	CDHR5_ENST00000397542.2_Missense_Mutation_p.S506F|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	506					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						AGTTGTGCCAGAGGGTGGATG	0.687																																																	0													35.0	46.0	42.0					11																	619042		2202	4293	6495	SO:0001583	missense	53841			AF258675	CCDS7707.1, CCDS7708.1	11p15.5	2011-07-01	2010-01-25	2010-01-25	ENSG00000099834	ENSG00000099834		"""Cadherins / Cadherin-related"""	7521	protein-coding gene	gene with protein product		606839	"""mucin and cadherin-like"", ""mucin-like protocadherin"""	MUCDHL, MUPCDH		11031102, 10801787	Standard	NM_021924		Approved	FLJ20219, MU-PCDH	uc001lqj.3	Q9HBB8	OTTHUMG00000132018	ENST00000358353.3:c.1517C>T	11.37:g.619042G>A	ENSP00000351118:p.Ser506Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J7X1|Q9H746|Q9HAU3|Q9HBB5|Q9HBB6|Q9HBB7|Q9NX86|Q9NXI9	Missense_Mutation	SNP	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	p.S506F	ENST00000358353.3	37	c.1517	CCDS7707.1	11	.	.	.	.	.	.	.	.	.	.	G	18.25	3.582857	0.65992	.	.	ENSG00000099834	ENST00000397542;ENST00000358353	T;T	0.47177	0.85;0.85	3.97	-0.362	0.12560	.	3.356490	0.01598	N	0.021907	T	0.32376	0.0827	N	0.14661	0.345	0.09310	N	1	D;D	0.53745	0.962;0.962	P;P	0.49276	0.605;0.605	T	0.24083	-1.0170	10	0.09843	T	0.71	1.7911	1.5169	0.02508	0.1896:0.1632:0.4799:0.1672	.	500;506	Q9HBB8-4;Q9HBB8	.;CDHR5_HUMAN	F	506	ENSP00000380676:S506F;ENSP00000351118:S506F	ENSP00000351118:S506F	S	-	2	0	CDHR5	609042	0.000000	0.05858	0.000000	0.03702	0.461000	0.32589	-0.200000	0.09478	-0.149000	0.11215	0.561000	0.74099	TCT	CDHR5	-	NULL		0.687	CDHR5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDHR5	HGNC	protein_coding	OTTHUMT00000255023.2	G	NM_021924		619042	-1	no_errors	ENST00000358353	ensembl	human	known	70_37	missense	SNP	0.000	A
CDK18	5129	genome.wustl.edu	37	1	205495892	205495892	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:205495892C>T	ENST00000360066.2	+	8	967				CDK18_ENST00000429964.2_Intron|CDK18_ENST00000506784.1_Intron|CDK18_ENST00000509056.1_Intron	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18								ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						GAGCCACGCTCTGTGTTCCAG	0.637																																					Pancreas(180;489 2072 28461 40831 44265)												0													157.0	136.0	144.0					1																	205495892		2203	4300	6503	SO:0001627	intron_variant	5129			X66362	CCDS1454.1, CCDS44300.1	1q31-q32	2011-11-08	2009-12-16	2009-12-16	ENSG00000117266	ENSG00000117266		"""Cyclin-dependent kinases"""	8751	protein-coding gene	gene with protein product		169190	"""PCTAIRE protein kinase 3"""	PCTK3		1437147, 19884882	Standard	NM_002596		Approved	PCTAIRE3	uc010pri.2	Q07002	OTTHUMG00000037203	ENST00000360066.2:c.667-11C>T	1.37:g.205495892C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VXQ2|Q6V3A2|Q6V3A3|Q96F90	RNA	SNP	-	NULL	ENST00000360066.2	37	NULL	CCDS44300.1	1																																																																																			CDK18	-	-		0.637	CDK18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK18	HGNC	protein_coding	OTTHUMT00000090407.2	C	NM_002596		205495892	+1	no_errors	ENST00000505932	ensembl	human	known	70_37	rna	SNP	0.108	T
CDK4	1019	genome.wustl.edu	37	12	58145321	58145321	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:58145321C>T	ENST00000257904.6	-	2	545	c.180G>A	c.(178-180)ctG>ctA	p.L60L	CDK4_ENST00000312990.6_Silent_p.L60L|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_5'UTR|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	60	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell division (GO:0051301)|circadian rhythm (GO:0007623)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell cycle arrest (GO:0071157)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell size (GO:0045793)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of translation (GO:0045727)|protein phosphorylation (GO:0006468)|regulation of gene expression (GO:0010468)|response to drug (GO:0042493)|response to hyperoxia (GO:0055093)|response to lead ion (GO:0010288)|response to testosterone (GO:0033574)|response to toxic substance (GO:0009636)|signal transduction (GO:0007165)	chromatin (GO:0000785)|cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCAGTCGCCTCAGTAAAGCCA	0.572			Mis			melanoma			Hereditary Melanoma																														yes	Dom		Familial malignant melanoma	12	12q14	1019	cyclin-dependent kinase 4		E	0													109.0	93.0	98.0					12																	58145321		2203	4300	6503	SO:0001819	synonymous_variant	1019	Familial Cancer Database	Familial Atypical Multiple Mole Melanoma sydrome, FAMMM, Familial Dysplastic Nevus syndrome	M14505	CCDS8953.1	12q13	2014-09-17				ENSG00000135446		"""Cyclin-dependent kinases"""	1773	protein-coding gene	gene with protein product		123829				8275715	Standard	NM_000075		Approved	PSK-J3	uc001spv.3	P11802		ENST00000257904.6:c.180G>A	12.37:g.58145321C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9A0|B4DNF9|O00576|Q6FG61	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Aminoglycoside_PTrfase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L60	ENST00000257904.6	37	c.180	CCDS8953.1	12																																																																																			CDK4	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.572	CDK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK4	HGNC	protein_coding	OTTHUMT00000408790.2	C	NM_000075		58145321	-1	no_errors	ENST00000257904	ensembl	human	known	70_37	silent	SNP	1.000	T
CDK5R2	8941	genome.wustl.edu	37	2	219825346	219825346	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:219825346C>T	ENST00000302625.4	+	1	970	c.804C>T	c.(802-804)ctC>ctT	p.L268L	AC097468.7_ENST00000429343.1_RNA	NM_003936.4	NP_003927.1	Q13319	CD5R2_HUMAN	cyclin-dependent kinase 5, regulatory subunit 2 (p39)	268					cerebellum development (GO:0021549)|hippocampus development (GO:0021766)|layer formation in cerebral cortex (GO:0021819)|neuron migration (GO:0001764)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|superior olivary nucleus maturation (GO:0021722)	cyclin-dependent protein kinase 5 holoenzyme complex (GO:0016533)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	cyclin-dependent protein kinase 5 activator activity (GO:0016534)|lipid binding (GO:0008289)			central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	8		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCTCTACCTCGCCTACTCCT	0.662																																																	0													114.0	113.0	113.0					2																	219825346		2203	4300	6503	SO:0001819	synonymous_variant	8941			U34051	CCDS2427.1	2q35	2008-05-22			ENSG00000171450	ENSG00000171450			1776	protein-coding gene	gene with protein product	"""neuronal CDK5 activator isoform"""	603764				7592934	Standard	NM_003936		Approved	p39nck5ai, P39, NCK5AI	uc002vjf.4	Q13319	OTTHUMG00000133083	ENST00000302625.4:c.804C>T	2.37:g.219825346C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFW6	Silent	SNP	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator	p.L268	ENST00000302625.4	37	c.804	CCDS2427.1	2																																																																																			CDK5R2	-	pfam_CDK5_activator,superfamily_Cyclin-like,pirsf_CDK5_activator		0.662	CDK5R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK5R2	HGNC	protein_coding	OTTHUMT00000256728.1	C	NM_003936		219825346	+1	no_errors	ENST00000302625	ensembl	human	known	70_37	silent	SNP	1.000	T
CDKL2	8999	genome.wustl.edu	37	4	76529028	76529028	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:76529028G>C	ENST00000429927.2	-	6	1471	c.768C>G	c.(766-768)ctC>ctG	p.L256L	CDKL2_ENST00000307465.4_Silent_p.L256L	NM_003948.3	NP_003939.1	Q92772	CDKL2_HUMAN	cyclin-dependent kinase-like 2 (CDC2-related kinase)	256	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				sex differentiation (GO:0007548)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			CCACTTCAGAGAGCTTAGGAT	0.348																																																	0													123.0	126.0	125.0					4																	76529028		2203	4300	6503	SO:0001819	synonymous_variant	8999			U35146	CCDS3570.1	4q21.21	2011-11-04			ENSG00000138769	ENSG00000138769		"""Cyclin-dependent kinases"""	1782	protein-coding gene	gene with protein product		603442				9000130	Standard	NM_003948		Approved	P56, KKIAMRE	uc003hiq.3	Q92772	OTTHUMG00000130103	ENST00000429927.2:c.768C>G	4.37:g.76529028G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R695	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L256	ENST00000429927.2	37	c.768	CCDS3570.1	4																																																																																			CDKL2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.348	CDKL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CDKL2	HGNC	protein_coding	OTTHUMT00000252409.2	G	NM_003948		76529028	-1	no_errors	ENST00000429927	ensembl	human	known	70_37	silent	SNP	0.998	C
CEP135	9662	genome.wustl.edu	37	4	56820461	56820461	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:56820461C>G	ENST00000257287.4	+	4	508	c.384C>G	c.(382-384)ctC>ctG	p.L128L	CEP135_ENST00000422247.2_Silent_p.L128L	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	128					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					CTCATAAACTCAAACTGTTGG	0.328																																																	0													69.0	68.0	68.0					4																	56820461		2203	4300	6503	SO:0001819	synonymous_variant	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.384C>G	4.37:g.56820461C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMY0|O75130|Q58F25|Q9H8H7	Silent	SNP	superfamily_Prefoldin	p.L128	ENST00000257287.4	37	c.384	CCDS33986.1	4																																																																																			CEP135	-	NULL		0.328	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	C	NM_025009		56820461	+1	no_errors	ENST00000257287	ensembl	human	known	70_37	silent	SNP	0.971	G
CENPE	1062	genome.wustl.edu	37	4	104082602	104082602	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:104082602C>T	ENST00000265148.3	-	19	1944	c.1855G>A	c.(1855-1857)Gac>Aac	p.D619N	CENPE_ENST00000380026.3_Missense_Mutation_p.D594N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	619					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTTTTGGGTCTTCAATGCTT	0.373																																																	0													92.0	94.0	93.0					4																	104082602		2202	4300	6502	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1855G>A	4.37:g.104082602C>T	ENSP00000265148:p.Asp619Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.D619N	ENST00000265148.3	37	c.1855	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	13.66	2.303441	0.40795	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.69806	0.54;-0.43;0.54	5.32	4.48	0.54585	.	.	.	.	.	T	0.67192	0.2867	L	0.29908	0.895	0.33285	D	0.562839	P;D	0.60575	0.873;0.988	P;P	0.57204	0.543;0.815	T	0.75662	-0.3240	9	0.59425	D	0.04	.	11.941	0.52901	0.0:0.92:0.0:0.08	.	594;619	Q02224-3;Q02224	.;CENPE_HUMAN	N	619;619;594;619	ENSP00000265148:D619N;ENSP00000369365:D594N;ENSP00000423981:D619N	ENSP00000265148:D619N	D	-	1	0	CENPE	104302051	0.551000	0.26497	0.108000	0.21378	0.080000	0.17528	1.878000	0.39608	1.249000	0.43950	0.585000	0.79938	GAC	CENPE	-	NULL		0.373	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104082602	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.610	T
CEP164	22897	genome.wustl.edu	37	11	117265190	117265190	+	Missense_Mutation	SNP	G	G	A	rs550799764	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:117265190G>A	ENST00000278935.3	+	21	2888	c.2741G>A	c.(2740-2742)cGg>cAg	p.R914Q	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	914	Glu-rich.				cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAGGACTTGCGGCGCCGGCAC	0.662																																																	0													39.0	40.0	40.0					11																	117265190		2201	4296	6497	SO:0001583	missense	22897			AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.2741G>A	11.37:g.117265190G>A	ENSP00000278935:p.Arg914Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.R914Q	ENST00000278935.3	37	c.2741	CCDS31683.1	11	.	.	.	.	.	.	.	.	.	.	G	9.007	0.981452	0.18812	.	.	ENSG00000110274	ENST00000278935;ENST00000529538;ENST00000375253	T	0.42513	0.97	4.55	4.55	0.56014	.	0.333926	0.21625	N	0.071573	T	0.36082	0.0954	L	0.58669	1.825	0.19775	N	0.999956	B;B;B;B	0.32893	0.052;0.366;0.017;0.389	B;B;B;B	0.28011	0.009;0.05;0.002;0.085	T	0.25882	-1.0119	10	0.34782	T	0.22	-9.1608	10.5248	0.44941	0.094:0.0:0.906:0.0	.	888;688;914;917	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	Q	914;888;795	ENSP00000278935:R914Q	ENSP00000278935:R914Q	R	+	2	0	CEP164	116770400	0.530000	0.26330	0.938000	0.37757	0.671000	0.39405	0.438000	0.21559	2.245000	0.73994	0.591000	0.81541	CGG	CEP164	-	NULL		0.662	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP164	HGNC	protein_coding	OTTHUMT00000392893.1	G	NM_014956		117265190	+1	no_errors	ENST00000278935	ensembl	human	known	70_37	missense	SNP	0.505	A
CEPT1	10390	genome.wustl.edu	37	1	111725406	111725406	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:111725406C>G	ENST00000545121.1	+	7	1054				RP5-1180E21.5_ENST00000610049.1_RNA|RP5-1180E21.4_ENST00000607951.1_RNA|CEPT1_ENST00000357172.4_Intron|CEPT1_ENST00000467362.1_Intron	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1						CDP-choline pathway (GO:0006657)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	diacylglycerol cholinephosphotransferase activity (GO:0004142)|ethanolaminephosphotransferase activity (GO:0004307)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	TAACTCTTCTCTTCACTCTGT	0.408																																																	0													132.0	126.0	128.0					1																	111725406		2202	4300	6502	SO:0001627	intron_variant	10390			AF068302	CCDS830.1	1p13	2010-07-08			ENSG00000134255	ENSG00000134255	2.7.8.1, 2.7.8.2		24289	protein-coding gene	gene with protein product						10191259, 12216837	Standard	XM_005270353		Approved		uc001eah.1	Q9Y6K0	OTTHUMG00000012357	ENST00000545121.1:c.847-15C>G	1.37:g.111725406C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YJ9|Q9P0Y8	RNA	SNP	-	NULL	ENST00000545121.1	37	NULL	CCDS830.1	1																																																																																			CEPT1	-	-		0.408	CEPT1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEPT1	HGNC	protein_coding	OTTHUMT00000034462.2	C	NM_006090		111725406	+1	no_errors	ENST00000483427	ensembl	human	known	70_37	rna	SNP	0.998	G
CFH	3075	genome.wustl.edu	37	1	196716339	196716339	+	Missense_Mutation	SNP	G	G	A	rs121913063		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:196716339G>A	ENST00000367429.4	+	22	3832	c.3592G>A	c.(3592-3594)Gaa>Aaa	p.E1198K		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1198	Sushi 20. {ECO:0000255|PROSITE- ProRule:PRU00302}.		E -> A (in AHUS1). {ECO:0000269|PubMed:14583443}.		complement activation (GO:0006956)|complement activation, alternative pathway (GO:0006957)|innate immune response (GO:0045087)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)	p.E1198*(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGAATCAGTTGAATTTGTGTG	0.398																																																	1	Substitution - Nonsense(1)	large_intestine(1)	GRCh37	CM060895|CM070672	CFH	M	rs121913063						249.0	223.0	232.0					1																	196716339		2203	4300	6503	SO:0001583	missense	3075			Y00716	CCDS1385.1	1q32	2014-09-17	2004-08-09	2004-08-12	ENSG00000000971	ENSG00000000971		"""Complement system"""	4883	protein-coding gene	gene with protein product	"""beta-1H"", ""H factor 2 (complement)"", ""age-related maculopathy susceptibility 1"""	134370	"""H factor 1 (complement)"""	HF, HF1, HF2		2889480, 2963625	Standard	NM_000186		Approved	HUS, FHL1, ARMS1, ARMD4	uc001gtj.4	P08603	OTTHUMG00000035607	ENST00000367429.4:c.3592G>A	1.37:g.196716339G>A	ENSP00000356399:p.Glu1198Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL14|P78435|Q14570|Q2TAZ5|Q38G77|Q5TFM3|Q8N708|Q9NU86	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.E1198K	ENST00000367429.4	37	c.3592	CCDS1385.1	1	.	.	.	.	.	.	.	.	.	.	.	11.18	1.564030	0.27915	.	.	ENSG00000000971	ENST00000367429	T	0.63913	-0.07	4.35	3.44	0.39384	Complement control module (1);Sushi/SCR/CCP (3);	.	.	.	.	T	0.71846	0.3388	M	0.85542	2.76	0.80722	D	1	D	0.53312	0.959	P	0.57057	0.812	T	0.73726	-0.3892	9	0.07175	T	0.84	.	11.7776	0.51995	0.0:0.1778:0.8222:0.0	.	1198	P08603	CFAH_HUMAN	K	1198	ENSP00000356399:E1198K	ENSP00000356399:E1198K	E	+	1	0	CFH	194982962	0.999000	0.42202	0.974000	0.42286	0.007000	0.05969	3.600000	0.54052	1.196000	0.43129	-0.485000	0.04761	GAA	CFH	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP		0.398	CFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CFH	HGNC	protein_coding	OTTHUMT00000086412.2	G	NM_000186		196716339	+1	no_errors	ENST00000367429	ensembl	human	known	70_37	missense	SNP	0.996	A
CHCHD2	51142	genome.wustl.edu	37	7	56174064	56174064	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:56174064G>C	ENST00000395422.3	-	1	205	c.43C>G	c.(43-45)Ccg>Gcg	p.P15A		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	15						mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACCTGGCCGGAGGGGCCATG	0.667																																																	0													41.0	47.0	45.0					7																	56174064		2203	4299	6502	SO:0001583	missense	51142			AF078845	CCDS5526.1	7p11.2	2014-07-14	2004-01-19	2004-01-21	ENSG00000106153	ENSG00000106153		"""Coiled-coil-helix-coiled-coil-helix domain containing"""	21645	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 17"""	C7orf17		23303788	Standard	NM_016139		Approved		uc003tsa.3	Q9Y6H1	OTTHUMG00000129429	ENST00000395422.3:c.43C>G	7.37:g.56174064G>C	ENSP00000378812:p.Pro15Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q498C3|Q6NZ50	Missense_Mutation	SNP	pfam_CHCH	p.P15A	ENST00000395422.3	37	c.43	CCDS5526.1	7	.	.	.	.	.	.	.	.	.	.	G	20.1	3.937457	0.73557	.	.	ENSG00000106153	ENST00000395422	T	0.45668	0.89	4.83	4.83	0.62350	.	0.377361	0.29948	N	0.010795	T	0.56217	0.1970	L	0.46157	1.445	0.80722	D	1	D	0.76494	0.999	D	0.80764	0.994	T	0.43653	-0.9378	10	0.19147	T	0.46	.	17.4308	0.87539	0.0:0.0:1.0:0.0	.	15	Q9Y6H1	CHCH2_HUMAN	A	15	ENSP00000378812:P15A	ENSP00000378812:P15A	P	-	1	0	CHCHD2	56141558	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.582000	0.82546	2.669000	0.90835	0.561000	0.74099	CCG	CHCHD2	-	NULL		0.667	CHCHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHCHD2	HGNC	protein_coding	OTTHUMT00000251589.1	G	NM_016139		56174064	-1	no_errors	ENST00000395422	ensembl	human	known	70_37	missense	SNP	1.000	C
CHCHD3	54927	genome.wustl.edu	37	7	132481277	132481277	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:132481277C>A	ENST00000262570.5	-	7	730	c.586G>T	c.(586-588)Gag>Tag	p.E196*	CHCHD3_ENST00000476546.1_5'UTR|CHCHD3_ENST00000448878.1_Nonsense_Mutation_p.E201*	NM_017812.2	NP_060282.1	Q9NX63	MIC19_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 3	196	CHCH.				inner mitochondrial membrane organization (GO:0007007)|mitochondrial fusion (GO:0008053)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	phosphatase binding (GO:0019902)|protein complex scaffold (GO:0032947)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						TGGGTGTTCTCACGGTAACAC	0.527																																																	0													147.0	121.0	130.0					7																	132481277		2203	4300	6503	SO:0001587	stop_gained	54927			BC011596	CCDS5828.1	7q33	2012-10-02			ENSG00000106554	ENSG00000106554		"""Coiled-coil-helix-coiled-coil-helix domain containing"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21906	protein-coding gene	gene with protein product	"""mitochondrial inner membrane organizing system 3"", ""protein phosphatase 1, regulatory subunit 22"""	613748				22252321, 23019327, 21081504, 17624330	Standard	NM_017812		Approved	FLJ20420, MINOS3, PPP1R22	uc003vre.3	Q9NX63	OTTHUMG00000155231	ENST00000262570.5:c.586G>T	7.37:g.132481277C>A	ENSP00000262570:p.Glu196*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_DUF737	p.E196*	ENST00000262570.5	37	c.586	CCDS5828.1	7	.	.	.	.	.	.	.	.	.	.	C	14.33	2.504526	0.44558	.	.	ENSG00000106554	ENST00000262570;ENST00000448878	.	.	.	5.81	1.72	0.24424	.	0.309648	0.39834	N	0.001245	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-7.5765	12.9418	0.58350	0.0651:0.4393:0.4956:0.0	.	.	.	.	X	196;201	.	ENSP00000262570:E196X	E	-	1	0	CHCHD3	132131817	0.996000	0.38824	0.996000	0.52242	0.044000	0.14063	2.394000	0.44450	0.768000	0.33290	-0.171000	0.13296	GAG	CHCHD3	-	NULL		0.527	CHCHD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CHCHD3	HGNC	protein_coding	OTTHUMT00000338899.1	C	NM_017812		132481277	-1	no_errors	ENST00000262570	ensembl	human	known	70_37	nonsense	SNP	0.937	A
CHD6	84181	genome.wustl.edu	37	20	40040818	40040818	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:40040818C>G	ENST00000373233.3	-	36	7394	c.7217G>C	c.(7216-7218)aGa>aCa	p.R2406T	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2406					ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGCAGGAACTCTCTCTTCCCC	0.532																																																	0													111.0	99.0	103.0					20																	40040818		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.7217G>C	20.37:g.40040818C>G	ENSP00000362330:p.Arg2406Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.R2406T	ENST00000373233.3	37	c.7217	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878102	0.91664	.	.	ENSG00000124177	ENST00000373233	T	0.63913	-0.07	5.25	5.25	0.73442	BRK domain (1);	0.095258	0.45606	D	0.000345	T	0.69780	0.3149	L	0.52573	1.65	0.80722	D	1	D	0.55385	0.971	P	0.53360	0.724	T	0.72272	-0.4342	10	0.66056	D	0.02	-14.9616	19.0427	0.93008	0.0:1.0:0.0:0.0	.	2406	Q8TD26	CHD6_HUMAN	T	2406	ENSP00000362330:R2406T	ENSP00000362330:R2406T	R	-	2	0	CHD6	39474232	1.000000	0.71417	1.000000	0.80357	0.835000	0.47333	7.320000	0.79064	2.722000	0.93159	0.655000	0.94253	AGA	CHD6	-	pfam_BRK_domain,smart_BRK_domain		0.532	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40040818	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	G
CHD8	57680	genome.wustl.edu	37	14	21861729	21861729	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:21861729C>G	ENST00000557364.1	-	32	6488	c.6225G>C	c.(6223-6225)ttG>ttC	p.L2075F	SNORD9_ENST00000362566.1_RNA|CHD8_ENST00000399982.2_Missense_Mutation_p.L2075F|CHD8_ENST00000555962.1_5'Flank|CHD8_ENST00000430710.3_Missense_Mutation_p.L1796F			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2075	Ser-rich.				ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACAGCTTGCTCAAGTCCAGCT	0.512																																																	0													38.0	40.0	39.0					14																	21861729		2098	4224	6322	SO:0001583	missense	57680			AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.6225G>C	14.37:g.21861729C>G	ENSP00000451601:p.Leu2075Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_BRK_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L2075F	ENST00000557364.1	37	c.6225	CCDS53885.1	14	.	.	.	.	.	.	.	.	.	.	C	12.40	1.926411	0.34002	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	D;D;D	0.88975	-2.45;-2.45;-2.45	5.26	4.3	0.51218	.	0.256479	0.28182	N	0.016293	D	0.85366	0.5680	N	0.08118	0	0.27806	N	0.942319	D	0.69078	0.997	D	0.75484	0.986	T	0.76260	-0.3024	10	0.56958	D	0.05	-6.6309	5.9341	0.19154	0.0:0.6998:0.1964:0.1038	.	1796	Q9HCK8-2	.	F	1796;2075;1795;2075	ENSP00000406288:L1796F;ENSP00000382863:L2075F;ENSP00000451601:L2075F	ENSP00000262707:L1795F	L	-	3	2	CHD8	20931569	0.932000	0.31603	1.000000	0.80357	0.998000	0.95712	0.639000	0.24690	2.739000	0.93911	0.563000	0.77884	TTG	CHD8	-	NULL		0.512	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD8	HGNC	protein_coding	OTTHUMT00000410436.1	C	NM_020920		21861729	-1	no_errors	ENST00000399982	ensembl	human	known	70_37	missense	SNP	1.000	G
CHGA	1113	genome.wustl.edu	37	14	93397861	93397861	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:93397861C>T	ENST00000216492.5	+	6	902	c.622C>T	c.(622-624)Cag>Tag	p.Q208*	CHGA_ENST00000334654.4_Intron|CHGA_ENST00000553866.1_3'UTR	NM_001275.3	NP_001266.1	P10645	CMGA_HUMAN	chromogranin A (parathyroid secretory protein 1)	208					regulation of blood pressure (GO:0008217)	extracellular region (GO:0005576)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|secretory granule (GO:0030141)				cervix(1)|large_intestine(1)|lung(3)|skin(3)	8		all_cancers(154;0.0843)		Epithelial(152;0.102)|COAD - Colon adenocarcinoma(157;0.208)|all cancers(159;0.224)		GGGCCTCTCTCAGGGTCTGGT	0.652																																					Colon(31;154 822 45066 49155)|NSCLC(28;804 1157 13734 25204)												0													26.0	29.0	28.0					14																	93397861		2203	4299	6502	SO:0001587	stop_gained	1113				CCDS9906.1	14q32	2012-10-02			ENSG00000100604	ENSG00000100604			1929	protein-coding gene	gene with protein product	"""vasostatin"", ""pancreastatin"", ""parastatin"""	118910				3403545	Standard	NM_001275		Approved		uc001ybc.4	P10645		ENST00000216492.5:c.622C>T	14.37:g.93397861C>T	ENSP00000216492:p.Gln208*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9E9|Q53FA8|Q6NR84|Q96E84|Q96GL7|Q9BQB5	Nonsense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.Q208*	ENST00000216492.5	37	c.622	CCDS9906.1	14	.	.	.	.	.	.	.	.	.	.	C	38	7.159555	0.98103	.	.	ENSG00000100604	ENST00000216492	.	.	.	4.34	3.43	0.39272	.	0.428002	0.21591	N	0.072085	.	.	.	.	.	.	0.22050	N	0.9994	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	-11.4728	10.9862	0.47523	0.1864:0.8136:0.0:0.0	.	.	.	.	X	208	.	ENSP00000216492:Q208X	Q	+	1	0	CHGA	92467614	0.291000	0.24352	0.011000	0.14972	0.782000	0.44232	0.992000	0.29667	0.917000	0.36895	0.555000	0.69702	CAG	CHGA	-	pfam_Granin		0.652	CHGA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGA	HGNC	protein_coding	OTTHUMT00000412411.1	C	NM_001275		93397861	+1	no_errors	ENST00000216492	ensembl	human	known	70_37	nonsense	SNP	0.048	T
CHGB	1114	genome.wustl.edu	37	20	5905674	5905674	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:5905674G>C	ENST00000378961.4	+	5	2217	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	671						extracellular region (GO:0005576)|secretory granule (GO:0030141)	hormone activity (GO:0005179)			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGATAGCTGAGAAATTCAGCC	0.443																																																	0													81.0	79.0	80.0					20																	5905674		2203	4300	6503	SO:0001583	missense	1114				CCDS13092.1	20p12.3	2013-09-19			ENSG00000089199	ENSG00000089199			1930	protein-coding gene	gene with protein product	"""secretogranin B"""	118920		SCG1		3608978	Standard	NM_001819		Approved		uc002wmg.3	P05060	OTTHUMG00000031821	ENST00000378961.4:c.2013G>C	20.37:g.5905674G>C	ENSP00000368244:p.Glu671Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K021|Q59EU9|Q6IBS6|Q9BQV6|Q9UC25|Q9UJA6	Missense_Mutation	SNP	pfam_Granin,prints_Chromogranin_AB	p.E671D	ENST00000378961.4	37	c.2013	CCDS13092.1	20	.	.	.	.	.	.	.	.	.	.	G	18.87	3.715807	0.68844	.	.	ENSG00000089199	ENST00000378961	T	0.01963	4.53	5.69	1.34	0.21922	.	0.181737	0.38381	N	0.001718	T	0.03959	0.0111	M	0.71581	2.175	0.34104	D	0.66225	P	0.42357	0.777	B	0.42738	0.396	T	0.28299	-1.0048	10	0.87932	D	0	-11.2744	6.6363	0.22885	0.2239:0.1278:0.6482:0.0	.	671	P05060	SCG1_HUMAN	D	671	ENSP00000368244:E671D	ENSP00000368244:E671D	E	+	3	2	CHGB	5853674	1.000000	0.71417	0.994000	0.49952	0.918000	0.54935	3.009000	0.49552	0.077000	0.16863	0.655000	0.94253	GAG	CHGB	-	pfam_Granin		0.443	CHGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHGB	HGNC	protein_coding	OTTHUMT00000077897.2	G	NM_001819		5905674	+1	no_errors	ENST00000378961	ensembl	human	known	70_37	missense	SNP	1.000	C
CHIA	27159	genome.wustl.edu	37	1	111854982	111854982	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:111854982C>G	ENST00000369740.1	+	4	329	c.226C>G	c.(226-228)Ctc>Gtc	p.L76V	CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Intron|CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.L76V|CHIA_ENST00000451398.2_Intron	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	76					apoptotic process (GO:0006915)|cell wall chitin metabolic process (GO:0006037)|chitin catabolic process (GO:0006032)|chitin metabolic process (GO:0006030)|digestion (GO:0007586)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|positive regulation of chemokine secretion (GO:0090197)|production of molecular mediator involved in inflammatory response (GO:0002532)|response to fungus (GO:0009620)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	carbohydrate binding (GO:0030246)|chitin binding (GO:0008061)|chitinase activity (GO:0004568)|kinase binding (GO:0019900)|lysozyme activity (GO:0003796)	p.L76V(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		TGATGTGACTCTCTACCAAGC	0.453																																																	1	Substitution - Missense(1)	urinary_tract(1)											115.0	110.0	111.0					1																	111854982		1957	4147	6104	SO:0001583	missense	27159			AF290004	CCDS832.1, CCDS41368.1, CCDS58017.1	1p13.2	2008-05-14			ENSG00000134216	ENSG00000134216			17432	protein-coding gene	gene with protein product		606080				11085997	Standard	NM_021797		Approved	AMCase, TSA1902, CHIT2	uc001eas.4	Q9BZP6	OTTHUMG00000011165	ENST00000369740.1:c.226C>G	1.37:g.111854982C>G	ENSP00000358755:p.Leu76Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32W79|Q32W80|Q3B866|Q5U5Z5|Q5VUV4|Q86UD8|Q9ULY3|Q9ULY4	Missense_Mutation	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.L76V	ENST00000369740.1	37	c.226	CCDS41368.1	1	.	.	.	.	.	.	.	.	.	.	C	17.02	3.280813	0.59758	.	.	ENSG00000134216	ENST00000369740;ENST00000343320	T;T	0.04809	3.55;3.55	4.7	2.7	0.31948	Chitinase II (1);Glycoside hydrolase, family 18, catalytic domain (1);Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.000000	0.52532	U	0.000066	T	0.05090	0.0136	M	0.67953	2.075	0.80722	D	1	B	0.32507	0.373	P	0.46585	0.521	T	0.13764	-1.0497	10	0.51188	T	0.08	-8.7349	7.3959	0.26936	0.0:0.7226:0.1746:0.1028	.	76	Q9BZP6	CHIA_HUMAN	V	76	ENSP00000358755:L76V;ENSP00000341828:L76V	ENSP00000341828:L76V	L	+	1	0	CHIA	111656505	0.269000	0.24143	0.909000	0.35828	0.939000	0.58152	0.916000	0.28651	0.432000	0.26286	0.655000	0.94253	CTC	CHIA	-	pfam_Glyco_hydro18cat,superfamily_Glycoside_hydrolase_SF,smart_Chitinase_II		0.453	CHIA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIA	HGNC	protein_coding	OTTHUMT00000030710.1	C			111854982	+1	no_errors	ENST00000343320	ensembl	human	known	70_37	missense	SNP	0.996	G
CHIT1	1118	genome.wustl.edu	37	1	203186868	203186868	+	Splice_Site	SNP	C	C	G	rs372941874|rs143439055|rs200625369	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203186868C>G	ENST00000367229.1	-	10	1189	c.1155G>C	c.(1153-1155)ctG>ctC	p.L385L	CHIT1_ENST00000535569.1_Splice_Site_p.L376L|CHIT1_ENST00000255427.3_Splice_Site_p.L366L|CHIT1_ENST00000484834.1_5'UTR	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	385					chitin catabolic process (GO:0006032)|immune response (GO:0006955)|polysaccharide catabolic process (GO:0000272)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|lysosome (GO:0005764)	chitin binding (GO:0008061)|chitinase activity (GO:0004568)|endochitinase activity (GO:0008843)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						CTTACTTACTCAGTTCCTGCC	0.587																																																	0													51.0	53.0	52.0					1																	203186868		2198	4300	6498	SO:0001630	splice_region_variant	1118			U29615	CCDS1436.1, CCDS58057.1	1q32.1	2013-06-06			ENSG00000133063	ENSG00000133063			1936	protein-coding gene	gene with protein product		600031				9748235, 9492324	Standard	NM_003465		Approved	CHIT, CHI3	uc001gzn.2	Q13231	OTTHUMG00000042126	ENST00000367229.1:c.1156+1G>C	1.37:g.203186868C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNW6|J3KN09|Q0VGG5|Q0VGG6|Q3ZAR1|Q6ISC2|Q9H3V8|Q9UDJ8	Silent	SNP	pfam_Glyco_hydro18cat,pfam_Chitin-bd_dom,superfamily_Glycoside_hydrolase_SF,superfamily_Chitin-bd_dom,smart_Chitinase_II,smart_Chitin-bd_dom,pfscan_Chitin-bd_dom	p.L385	ENST00000367229.1	37	c.1155	CCDS1436.1	1																																																																																			CHIT1	-	superfamily_Glycoside_hydrolase_SF		0.587	CHIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIT1	HGNC	protein_coding	OTTHUMT00000100275.2	C	NM_003465	Silent	203186868	-1	no_errors	ENST00000367229	ensembl	human	known	70_37	silent	SNP	0.483	G
CHRAC1	54108	genome.wustl.edu	37	8	141525317	141525317	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:141525317G>C	ENST00000220913.5	+	3	569	c.367G>C	c.(367-369)Gaa>Caa	p.E123Q	CHRAC1_ENST00000519533.1_3'UTR	NM_017444.5	NP_059140.1	Q9NRG0	CHRC1_HUMAN	chromatin accessibility complex 1	123					chromatin remodeling (GO:0006338)|DNA-dependent DNA replication (GO:0006261)	CHRAC (GO:0008623)|epsilon DNA polymerase complex (GO:0008622)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|sequence-specific DNA binding (GO:0043565)			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			CAATGATAATGAAAGTGACCA	0.388																																																	0													113.0	109.0	111.0					8																	141525317		2203	4300	6503	SO:0001583	missense	54108			AF226076	CCDS6379.1	8q24.3	2008-08-07				ENSG00000104472			13544	protein-coding gene	gene with protein product	"""histone-fold protein CHRAC15"""	607268				10880450, 11000277	Standard	NM_017444		Approved	CHRAC15, YCL1	uc003yvl.3	Q9NRG0		ENST00000220913.5:c.367G>C	8.37:g.141525317G>C	ENSP00000220913:p.Glu123Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_CBFA_NFYB_domain,superfamily_Histone-fold	p.E123Q	ENST00000220913.5	37	c.367	CCDS6379.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	8.060|8.060	0.767918|0.767918	0.15983|0.15983	.|.	.|.	ENSG00000104472|ENSG00000104472	ENST00000220913|ENST00000519618	T|.	0.36520|.	1.25|.	4.32|4.32	2.49|2.49	0.30216|0.30216	.|.	0.503248|.	0.17471|.	N|.	0.173092|.	T|T	0.18509|0.18509	0.0444|0.0444	N|N	0.08118|0.08118	0|0	0.19775|0.19775	N|N	0.999955|0.999955	B|.	0.02656|.	0.0|.	B|.	0.06405|.	0.002|.	T|T	0.26326|0.26326	-1.0106|-1.0106	10|5	0.15499|.	T|.	0.54|.	-7.5277|-7.5277	8.8688|8.8688	0.35303|0.35303	0.0839:0.1511:0.765:0.0|0.0839:0.1511:0.765:0.0	.|.	123|.	Q9NRG0|.	CHRC1_HUMAN|.	Q|I	123|88	ENSP00000220913:E123Q|.	ENSP00000220913:E123Q|.	E|M	+|+	1|3	0|0	CHRAC1|CHRAC1	141594499|141594499	0.427000|0.427000	0.25514|0.25514	0.000000|0.000000	0.03702|0.03702	0.101000|0.101000	0.19017|0.19017	3.236000|3.236000	0.51336|0.51336	0.439000|0.439000	0.26476|0.26476	-0.300000|-0.300000	0.09419|0.09419	GAA|ATG	CHRAC1	-	NULL		0.388	CHRAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRAC1	HGNC	protein_coding	OTTHUMT00000377816.1	G	NM_017444		141525317	+1	no_errors	ENST00000220913	ensembl	human	known	70_37	missense	SNP	0.003	C
CHRDL1	91851	genome.wustl.edu	37	X	109924798	109924798	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:109924798G>A	ENST00000372045.1	-	10	1175	c.1044C>T	c.(1042-1044)ttC>ttT	p.F348F	CHRDL1_ENST00000218054.4_Silent_p.F354F|CHRDL1_ENST00000394797.4_Silent_p.F354F|CHRDL1_ENST00000372042.1_Silent_p.F356F|CHRDL1_ENST00000434224.1_Silent_p.F275F|CHRDL1_ENST00000444321.2_Silent_p.F355F|CHRDL1_ENST00000482160.1_Silent_p.F276F			Q9BU40	CRDL1_HUMAN	chordin-like 1	348					BMP signaling pathway (GO:0030509)|cell differentiation (GO:0030154)|compound eye development (GO:0048749)|eye development (GO:0001654)|negative regulation of BMP signaling pathway (GO:0030514)|nervous system development (GO:0007399)|ossification (GO:0001503)	extracellular region (GO:0005576)				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						CATCCTCCATGAATACAGACT	0.478																																																	0													196.0	150.0	165.0					X																	109924798		2203	4300	6503	SO:0001819	synonymous_variant	91851			AL049176	CCDS14553.1, CCDS48148.1, CCDS48149.1, CCDS48150.1, CCDS48148.2	Xq23	2014-01-31			ENSG00000101938	ENSG00000101938			29861	protein-coding gene	gene with protein product		300350	"""megalocornea 1 (X-linked)"""	MGC1		11441185, 11118896, 22284829	Standard	NM_001143981		Approved	NRLN1, CHL	uc004eow.3	Q9BU40	OTTHUMG00000022199	ENST00000372045.1:c.1044C>T	X.37:g.109924798G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKD0|B4DMP3|D3DUY6|E9PGS5|Q539E4|Q9Y3H7	Silent	SNP	pfam_VWF_C,smart_VWF_C,pfscan_VWF_C	p.F356	ENST00000372045.1	37	c.1068		X																																																																																			CHRDL1	-	NULL		0.478	CHRDL1-001	KNOWN	basic	protein_coding	CHRDL1	HGNC	protein_coding	OTTHUMT00000057912.1	G	NM_145234		109924798	-1	no_errors	ENST00000372042	ensembl	human	known	70_37	silent	SNP	1.000	A
CIC	23152	genome.wustl.edu	37	19	42794092	42794092	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:42794092G>C	ENST00000575354.2	+	9	1493	c.1453G>C	c.(1453-1455)Gag>Cag	p.E485Q	CIC_ENST00000572681.2_Missense_Mutation_p.E1394Q|CIC_ENST00000160740.3_Missense_Mutation_p.E485Q	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	485					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGAGGACCCAGAGGGCAACAA	0.602			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													53.0	33.0	40.0					19																	42794092		2202	4298	6500	SO:0001583	missense	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.1453G>C	19.37:g.42794092G>C	ENSP00000458663:p.Glu485Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LGI1|Q9UEG5|Q9Y6T1	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.E485Q	ENST00000575354.2	37	c.1453	CCDS12601.1	19	.	.	.	.	.	.	.	.	.	.	G	13.48	2.248594	0.39797	.	.	ENSG00000079432	ENST00000160740	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	T	0.38983	0.1061	N	0.24115	0.695	0.34515	D	0.707501	P	0.37466	0.596	B	0.32289	0.143	T	0.58973	-0.7541	8	0.87932	D	0	-4.4677	15.4304	0.75092	0.0:0.0:1.0:0.0	.	485	Q96RK0	CIC_HUMAN	Q	485	.	ENSP00000160740:E485Q	E	+	1	0	CIC	47485932	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	5.880000	0.69698	2.586000	0.87340	0.561000	0.74099	GAG	CIC	-	NULL		0.602	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42794092	+1	no_errors	ENST00000160740	ensembl	human	known	70_37	missense	SNP	0.995	C
CIITA	4261	genome.wustl.edu	37	16	11002973	11002973	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:11002973C>T	ENST00000324288.8	+	12	2878	c.2745C>T	c.(2743-2745)ttC>ttT	p.F915F	CIITA_ENST00000381835.5_Silent_p.F331F|CIITA_ENST00000537380.1_Intron	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	915					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						AGGAGAAGTTCACCATCGAGC	0.592			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0													93.0	62.0	73.0					16																	11002973		2197	4300	6497	SO:0001819	synonymous_variant	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.2745C>T	16.37:g.11002973C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,prints_MHC_II_transact	p.F915	ENST00000324288.8	37	c.2745	CCDS10544.1	16																																																																																			CIITA	-	NULL		0.592	CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CIITA	HGNC	protein_coding	OTTHUMT00000251966.2	C	NM_000246		11002973	+1	no_errors	ENST00000324288	ensembl	human	known	70_37	silent	SNP	1.000	T
CIZ1	25792	genome.wustl.edu	37	9	130928435	130928435	+	3'UTR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:130928435G>C	ENST00000393608.1	-	0	2940				CIZ1_ENST00000325721.8_3'UTR|CIZ1_ENST00000372938.5_3'UTR|CIZ1_ENST00000372948.3_3'UTR|CIZ1_ENST00000357558.5_3'UTR|CIZ1_ENST00000277465.4_3'UTR|CIZ1_ENST00000372954.1_3'UTR|CIZ1_ENST00000538431.1_3'UTR|CIZ1_ENST00000476727.2_5'Flank|CIZ1_ENST00000541172.1_3'UTR	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1						maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGCATTAGCAGATCTGGACCC	0.532																																																	0													14.0	16.0	15.0					9																	130928435		2163	4247	6410	SO:0001624	3_prime_UTR_variant	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.*41C>G	9.37:g.130928435G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	RNA	SNP	-	NULL	ENST00000393608.1	37	NULL	CCDS6894.1	9																																																																																			CIZ1	-	-		0.532	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	G	NM_012127		130928435	-1	no_errors	ENST00000461765	ensembl	human	known	70_37	rna	SNP	0.000	C
CIZ1	25792	genome.wustl.edu	37	9	130929266	130929266	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:130929266G>A	ENST00000393608.1	-	15	2568				CIZ1_ENST00000325721.8_Intron|CIZ1_ENST00000372938.5_Intron|CIZ1_ENST00000372948.3_Intron|CIZ1_ENST00000357558.5_Intron|CIZ1_ENST00000277465.4_Intron|CIZ1_ENST00000372954.1_Intron|CIZ1_ENST00000538431.1_Intron|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000541172.1_Intron	NM_012127.2	NP_036259.2	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1						maintenance of protein location in nucleus (GO:0051457)|positive regulation of DNA-dependent DNA replication initiation (GO:0032298)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						AGGGGCAGAAGAGAAGGCTTC	0.632																																																	0																																										SO:0001627	intron_variant	25792			AB030835	CCDS6894.1, CCDS48033.1, CCDS48034.1, CCDS75910.1	9q34.1	2012-10-05			ENSG00000148337	ENSG00000148337			16744	protein-coding gene	gene with protein product		611420				10529385	Standard	NM_001131015		Approved	LSFR1, ZNF356	uc011mas.2	Q9ULV3	OTTHUMG00000020735	ENST00000393608.1:c.2365+107C>T	9.37:g.130929266G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9J8|B4E131|B7ZAS8|Q5SYW3|Q5SYW5|Q8WU72|Q9H868|Q9NYM8|Q9UHK4|Q9Y3F9|Q9Y3G0	RNA	SNP	-	NULL	ENST00000393608.1	37	NULL	CCDS6894.1	9																																																																																			CIZ1	-	-		0.632	CIZ1-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIZ1	HGNC	protein_coding	OTTHUMT00000054399.1	G	NM_012127		130929266	-1	no_errors	ENST00000485001	ensembl	human	known	70_37	rna	SNP	0.003	A
CKAP2	26586	genome.wustl.edu	37	13	53030687	53030687	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:53030687C>G	ENST00000378037.5	+	2	190	c.100C>G	c.(100-102)Ctg>Gtg	p.L34V	CKAP2_ENST00000378034.3_Missense_Mutation_p.L34V|CKAP2_ENST00000258607.5_Missense_Mutation_p.L34V|CKAP2_ENST00000490903.1_5'UTR	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3			cytoskeleton associated protein 2											breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		CAAGGAACATCTGTTGAGAAG	0.328																																																	0													112.0	112.0	112.0					13																	53030687		2203	4299	6502	SO:0001583	missense	26586			AF177227	CCDS9435.1, CCDS41893.1, CCDS66557.1, CCDS73578.1	13q14	2014-03-21			ENSG00000136108	ENSG00000136108			1990	protein-coding gene	gene with protein product		611569				9771967	Standard	XM_005266343		Approved	LB1, FLJ10749, se20-10, TMAP	uc001vgv.2	Q8WWK9	OTTHUMG00000016967	ENST00000378037.5:c.100C>G	13.37:g.53030687C>G	ENSP00000367276:p.Leu34Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.L34V	ENST00000378037.5	37	c.100	CCDS41893.1	13	.	.	.	.	.	.	.	.	.	.	.	10.08	1.251066	0.22880	.	.	ENSG00000136108	ENST00000398044;ENST00000258607;ENST00000378034;ENST00000378037	T;T;T	0.31510	1.49;1.49;1.49	5.29	2.56	0.30785	.	0.133504	0.34200	N	0.004161	T	0.39200	0.1069	M	0.71581	2.175	0.53005	D	0.999966	B;P;B	0.45957	0.042;0.869;0.421	B;P;B	0.50162	0.084;0.633;0.169	T	0.15838	-1.0423	10	0.72032	D	0.01	-0.173	7.0542	0.25089	0.3062:0.6134:0.0:0.0804	.	34;34;34	Q8WWK9;B2RMQ4;A8MYU4	CKAP2_HUMAN;.;.	V	34	ENSP00000258607:L34V;ENSP00000367273:L34V;ENSP00000367276:L34V	ENSP00000258607:L34V	L	+	1	2	CKAP2	51928688	0.687000	0.27671	0.035000	0.18076	0.359000	0.29487	0.517000	0.22832	0.286000	0.22352	-0.321000	0.08615	CTG	CKAP2	-	NULL		0.328	CKAP2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CKAP2	HGNC	protein_coding	OTTHUMT00000355010.2	C			53030687	+1	no_errors	ENST00000378037	ensembl	human	known	70_37	missense	SNP	0.723	G
CKAP4	10970	genome.wustl.edu	37	12	106633787	106633787	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:106633787G>A	ENST00000378026.4	-	2	960	c.824C>T	c.(823-825)tCc>tTc	p.S275F	CKAP4_ENST00000552828.1_5'UTR	NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	275						cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						TTCTTCCAGGGAGGCAACCTT	0.498																																																	0													191.0	187.0	189.0					12																	106633787		2203	4300	6503	SO:0001583	missense	10970			X69910	CCDS9103.1	12q23.3	2006-06-23				ENSG00000136026			16991	protein-coding gene	gene with protein product						8314870	Standard	NM_006825		Approved	P63, CLIMP-63, ERGIC-63	uc001tlk.3	Q07065		ENST00000378026.4:c.824C>T	12.37:g.106633787G>A	ENSP00000367265:p.Ser275Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504S5|Q53ES6	Missense_Mutation	SNP	superfamily_Tscrpt_elong_fac_GreA/B_N,superfamily_STAT_TF_coiled-coil	p.S275F	ENST00000378026.4	37	c.824	CCDS9103.1	12	.	.	.	.	.	.	.	.	.	.	G	13.19	2.162760	0.38217	.	.	ENSG00000136026	ENST00000378026	D	0.81499	-1.5	5.8	4.89	0.63831	.	0.434763	0.27012	N	0.021375	D	0.88894	0.6561	M	0.76328	2.33	0.24790	N	0.992766	D	0.71674	0.998	D	0.66847	0.947	D	0.83673	0.0167	10	0.72032	D	0.01	-3.7772	16.6763	0.85280	0.0:0.1297:0.8703:0.0	.	275	Q07065	CKAP4_HUMAN	F	275	ENSP00000367265:S275F	ENSP00000367265:S275F	S	-	2	0	CKAP4	105157917	0.999000	0.42202	0.822000	0.32727	0.365000	0.29674	3.557000	0.53741	1.409000	0.46915	0.563000	0.77884	TCC	CKAP4	-	NULL		0.498	CKAP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CKAP4	HGNC	protein_coding	OTTHUMT00000407196.1	G			106633787	-1	no_errors	ENST00000378026	ensembl	human	known	70_37	missense	SNP	0.303	A
CLCNKA	1187	genome.wustl.edu	37	1	16350317	16350317	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:16350317G>A	ENST00000331433.4	+	3	142	c.123G>A	c.(121-123)caG>caA	p.Q41Q	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000420078.1_Silent_p.Q41Q|CLCNKA_ENST00000375692.1_Silent_p.Q41Q|CLCNKA_ENST00000439316.2_Silent_p.Q41Q			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	41					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGCTAAAGCAGAAGGTGTTCC	0.607																																																	0													184.0	128.0	147.0					1																	16350317		2203	4300	6503	SO:0001819	synonymous_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.123G>A	1.37:g.16350317G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Silent	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.Q41	ENST00000331433.4	37	c.123	CCDS167.1	1																																																																																			CLCNKA	-	superfamily_Cl-channel_core		0.607	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	G			16350317	+1	no_errors	ENST00000331433	ensembl	human	known	70_37	silent	SNP	0.948	A
CLDN24	100132463	genome.wustl.edu	37	4	184242961	184242961	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:184242961G>T	ENST00000541814.1	-	1	618	c.619C>A	c.(619-621)Cag>Aag	p.Q207K	CLDN22_ENST00000323319.5_5'Flank	NM_001185149.1	NP_001172078.1	A6NM45	CLD24_HUMAN	claudin 24	207						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	4						TAGGGACACTGAGTTTGCATT	0.527																																																	0																																										SO:0001583	missense	100132463				CCDS54824.1	4q35.1	2012-07-05			ENSG00000185758	ENSG00000185758			37200	protein-coding gene	gene with protein product			"""claudin 21"""	CLDN21		12736707	Standard	NM_001185149		Approved		uc021xva.1	A6NM45	OTTHUMG00000160628	ENST00000541814.1:c.619C>A	4.37:g.184242961G>T	ENSP00000438400:p.Gln207Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H040	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin	p.Q207K	ENST00000541814.1	37	c.619	CCDS54824.1	4	.	.	.	.	.	.	.	.	.	.	G	3.437	-0.114969	0.06881	.	.	ENSG00000185758	ENST00000541814	D	0.85171	-1.95	4.71	4.71	0.59529	.	.	.	.	.	T	0.71213	0.3313	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.54289	-0.8316	7	0.02654	T	1	.	12.8958	0.58098	0.0:0.0:0.8376:0.1624	.	.	.	.	K	207	ENSP00000438400:Q207K	ENSP00000438400:Q207K	Q	-	1	0	CLDN24	184479955	0.090000	0.21635	0.010000	0.14722	0.123000	0.20343	2.898000	0.48672	2.462000	0.83206	0.555000	0.69702	CAG	CLDN24	-	NULL		0.527	CLDN24-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN24	HGNC	protein_coding		G	XM_001714660		184242961	-1	no_errors	ENST00000541814	ensembl	human	known	70_37	missense	SNP	0.078	T
CLEC17A	388512	genome.wustl.edu	37	19	14710943	14710943	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14710943C>T	ENST00000417570.1	+	12	881	c.843C>T	c.(841-843)ttC>ttT	p.F281F	CLEC17A_ENST00000547437.1_Silent_p.F281F|CLEC17A_ENST00000397439.2_Silent_p.F264F	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	281	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CCCGGATGTTCTGCCAGGAGA	0.522																																																	0													74.0	72.0	73.0					19																	14710943		1978	4170	6148	SO:0001819	synonymous_variant	388512			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.843C>T	19.37:g.14710943C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MX68|B2RTX0|B7ZMM4	Silent	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.F281	ENST00000417570.1	37	c.843	CCDS56087.1	19																																																																																			CLEC17A	-	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII		0.522	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1	C	NM_207390		14710943	+1	no_errors	ENST00000417570	ensembl	human	known	70_37	silent	SNP	0.995	T
CLK4	57396	genome.wustl.edu	37	5	178030740	178030740	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:178030740C>T	ENST00000316308.4	-	13	1492	c.1324G>A	c.(1324-1326)Gat>Aat	p.D442N		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	442	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TGTTCTTCATCATGACAAAGC	0.318																																																	0													84.0	82.0	82.0					5																	178030740		2202	4300	6502	SO:0001583	missense	57396			AF294429	CCDS4437.1	5q35	2008-05-02			ENSG00000113240	ENSG00000113240		"""CDC-like kinases"""	13659	protein-coding gene	gene with protein product		607969				11170754	Standard	NM_020666		Approved		uc003mjf.1	Q9HAZ1	OTTHUMG00000130893	ENST00000316308.4:c.1324G>A	5.37:g.178030740C>T	ENSP00000316948:p.Asp442Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D442N	ENST00000316308.4	37	c.1324	CCDS4437.1	5	.	.	.	.	.	.	.	.	.	.	C	13.53	2.264049	0.39995	.	.	ENSG00000113240	ENST00000316308;ENST00000536763	T	0.20598	2.06	5.32	5.32	0.75619	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.200086	0.48767	D	0.000168	T	0.14614	0.0353	N	0.26130	0.795	0.80722	D	1	B;B	0.11235	0.004;0.004	B;B	0.15484	0.013;0.013	T	0.07520	-1.0768	10	0.30854	T	0.27	.	10.0225	0.42053	0.0:0.908:0.0:0.092	.	442;442	B9EG64;Q9HAZ1	.;CLK4_HUMAN	N	442;334	ENSP00000316948:D442N	ENSP00000316948:D442N	D	-	1	0	CLK4	177963346	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.841000	0.55850	2.473000	0.83533	0.591000	0.81541	GAT	CLK4	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.318	CLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLK4	HGNC	protein_coding	OTTHUMT00000253479.2	C			178030740	-1	no_errors	ENST00000316308	ensembl	human	known	70_37	missense	SNP	1.000	T
CLSTN1	22883	genome.wustl.edu	37	1	9791276	9791276	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:9791276G>A	ENST00000377298.4	-	18	3528	c.2736C>T	c.(2734-2736)gtC>gtT	p.V912V	CLSTN1_ENST00000377288.3_Silent_p.V893V|CLSTN1_ENST00000477264.1_5'UTR|CLSTN1_ENST00000361311.4_Silent_p.V902V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	912					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	cell junction (GO:0030054)|cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)|calcium ion binding (GO:0005509)|kinesin binding (GO:0019894)|X11-like protein binding (GO:0042988)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		CCATGGGGTTGACGGTGATGG	0.652																																																	0													122.0	105.0	111.0					1																	9791276		2203	4300	6503	SO:0001819	synonymous_variant	22883			AB020718	CCDS105.1, CCDS30580.1	1p36.22	2011-07-01			ENSG00000171603	ENSG00000171603		"""Cadherins / Cadherin-related"""	17447	protein-coding gene	gene with protein product	"""cadherin-related family member 12"""	611321				10048485	Standard	XM_005263432		Approved	CSTN1, KIAA0911, CDHR12	uc001aqh.3	O94985	OTTHUMG00000001451	ENST00000377298.4:c.2736C>T	1.37:g.9791276G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K183|Q5SR52|Q5UE58|Q71MN0|Q8N4K9	Silent	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V912	ENST00000377298.4	37	c.2736	CCDS30580.1	1																																																																																			CLSTN1	-	NULL		0.652	CLSTN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLSTN1	HGNC	protein_coding	OTTHUMT00000004239.1	G			9791276	-1	no_errors	ENST00000377298	ensembl	human	known	70_37	silent	SNP	0.989	A
CLTC	1213	genome.wustl.edu	37	17	57724983	57724983	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:57724983G>T	ENST00000269122.3	+	3	749	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.D159Y	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	159	Globular terminal domain.|WD40-like repeat 4.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|mitotic nuclear division (GO:0007067)|negative regulation of hyaluronan biosynthetic process (GO:1900126)|negative regulation of protein localization to plasma membrane (GO:1903077)|osteoblast differentiation (GO:0001649)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|transferrin transport (GO:0033572)	clathrin coat (GO:0030118)|clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin complex (GO:0071439)|clathrin-coated endocytic vesicle membrane (GO:0030669)|clathrin-coated vesicle (GO:0030136)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|spindle (GO:0005819)|trans-Golgi network membrane (GO:0032588)|vesicle (GO:0031982)	clathrin light chain binding (GO:0032051)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|structural molecule activity (GO:0005198)		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTACCGTACAGATGCAAAACA	0.408			T	"""ALK, TFE3"""	"""ALCL, renal """																																			Dom	yes		17	17q11-qter	1213	"""clathrin, heavy polypeptide (Hc)"""		L	0													129.0	122.0	124.0					17																	57724983		2203	4300	6503	SO:0001583	missense	1213			X55878	CCDS32696.1, CCDS74115.1	17q23.1	2013-09-19	2006-09-29		ENSG00000141367	ENSG00000141367			2092	protein-coding gene	gene with protein product		118955	"""clathrin, heavy polypeptide (Hc)"", ""clathrin, heavy chain"", ""clathrin, heavy polypeptide-like 2"""	CLTCL2		1765375, 7584026	Standard	NM_004859		Approved	Hc	uc002ixq.1	Q00610	OTTHUMG00000134279	ENST00000269122.3:c.475G>T	17.37:g.57724983G>T	ENSP00000269122:p.Asp159Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU00|Q6N0A0|Q86TF2	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.D159Y	ENST00000269122.3	37	c.475	CCDS32696.1	17	.	.	.	.	.	.	.	.	.	.	G	16.16	3.044153	0.55110	.	.	ENSG00000141367	ENST00000269122;ENST00000393043	T;T	0.28255	1.62;1.62	5.79	5.79	0.91817	Clathrin, heavy chain, propeller, N-terminal (1);Clathrin, heavy chain, linker/propeller domain (1);	0.000000	0.85682	D	0.000000	T	0.65238	0.2672	M	0.89287	3.02	0.80722	D	1	D;P	0.89917	1.0;0.913	D;P	0.91635	0.999;0.906	T	0.70691	-0.4802	10	0.87932	D	0	.	20.0411	0.97590	0.0:0.0:1.0:0.0	.	159;159	Q00610;Q00610-2	CLH1_HUMAN;.	Y	159	ENSP00000269122:D159Y;ENSP00000376763:D159Y	ENSP00000269122:D159Y	D	+	1	0	CLTC	55079765	1.000000	0.71417	1.000000	0.80357	0.087000	0.18053	9.869000	0.99810	2.739000	0.93911	0.655000	0.94253	GAT	CLTC	-	pfam_Clathrin_H-chain_propeller_rpt,superfamily_Clathrin_H-chain_propeller_N,pirsf_Clathrin_heavy_chain		0.408	CLTC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLTC	HGNC	protein_coding	OTTHUMT00000258859.1	G	NM_004859		57724983	+1	no_errors	ENST00000269122	ensembl	human	known	70_37	missense	SNP	1.000	T
CMIP	80790	genome.wustl.edu	37	16	81479049	81479049	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:81479049C>T	ENST00000537098.3	+	1	275	c.203C>T	c.(202-204)cCg>cTg	p.P68L		NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	68	PH.					cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(5)|kidney(1)|lung(7)	13						ATCCGGCACCCGCGGACCTTT	0.637																																																	0													26.0	32.0	30.0					16																	81479049		2027	4188	6215	SO:0001583	missense	80790			AB051481	CCDS54044.1, CCDS54045.1	16q23	2011-08-04			ENSG00000153815	ENSG00000153815			24319	protein-coding gene	gene with protein product		610112				11214970, 12939343	Standard	NM_030629		Approved		uc002fgp.3	Q8IY22		ENST00000537098.3:c.203C>T	16.37:g.81479049C>T	ENSP00000446100:p.Pro68Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9C0G9	Missense_Mutation	SNP	NULL	p.P68L	ENST00000537098.3	37	c.203	CCDS54044.1	16	.	.	.	.	.	.	.	.	.	.	C	15.36	2.809799	0.50421	.	.	ENSG00000153815	ENST00000537098	T	0.47869	0.83	2.72	2.72	0.32119	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.000000	0.33792	U	0.004558	T	0.30293	0.0760	N	0.14661	0.345	0.80722	D	1	B	0.20261	0.043	B	0.12837	0.008	T	0.10894	-1.0610	10	0.39692	T	0.17	.	13.6975	0.62589	0.0:1.0:0.0:0.0	.	68	Q8IY22	CMIP_HUMAN	L	68	ENSP00000446100:P68L	ENSP00000446100:P68L	P	+	2	0	CMIP	80036550	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.795000	0.62489	1.207000	0.43291	0.306000	0.20318	CCG	CMIP	-	NULL		0.637	CMIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMIP	HGNC	protein_coding	OTTHUMT00000432399.2	C	NM_030629		81479049	+1	no_errors	ENST00000537098	ensembl	human	known	70_37	missense	SNP	1.000	T
CMYA5	202333	genome.wustl.edu	37	5	79030219	79030219	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:79030219C>T	ENST00000446378.2	+	2	5662	c.5631C>T	c.(5629-5631)gtC>gtT	p.V1877V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1877					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		CTGCGGATGTCAAAGAAACAA	0.363																																																	0													66.0	65.0	65.0					5																	79030219		1824	4086	5910	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5631C>T	5.37:g.79030219C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.V1877	ENST00000446378.2	37	c.5631	CCDS47238.1	5																																																																																			CMYA5	-	NULL		0.363	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79030219	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	silent	SNP	0.000	T
CMYA5	202333	genome.wustl.edu	37	5	79054713	79054713	+	Nonsense_Mutation	SNP	C	C	T	rs374540188		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:79054713C>T	ENST00000446378.2	+	7	11279	c.11248C>T	c.(11248-11250)Caa>Taa	p.Q3750*	CMYA5_ENST00000505466.1_3'UTR	NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3750	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAAGATGATCAAGAAGTAAA	0.368																																																	0													143.0	136.0	138.0					5																	79054713		1956	4152	6108	SO:0001587	stop_gained	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.11248C>T	5.37:g.79054713C>T	ENSP00000394770:p.Gln3750*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.Q3750*	ENST00000446378.2	37	c.11248	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	C	53	20.618437	0.99932	.	.	ENSG00000164309	ENST00000446378	.	.	.	5.07	4.13	0.48395	.	0.355187	0.21885	N	0.067664	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.44086	T	0.13	.	12.8698	0.57958	0.2182:0.7817:0.0:0.0	.	.	.	.	X	3750	.	ENSP00000394770:Q3750X	Q	+	1	0	CMYA5	79090469	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	1.463000	0.35277	2.631000	0.89168	0.561000	0.74099	CAA	CMYA5	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.368	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	C	NM_153610		79054713	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CNGA4	1262	genome.wustl.edu	37	11	6265412	6265412	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:6265412G>C	ENST00000379936.2	+	6	1616	c.1501G>C	c.(1501-1503)Gac>Cac	p.D501H		NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	501					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACGAGGCCTAGACCAGCAGCT	0.562																																																	0													85.0	82.0	83.0					11																	6265412		2201	4296	6497	SO:0001583	missense	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.1501G>C	11.37:g.6265412G>C	ENSP00000369268:p.Asp501His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.D501H	ENST00000379936.2	37	c.1501	CCDS31408.1	11	.	.	.	.	.	.	.	.	.	.	G	19.40	3.820778	0.71028	.	.	ENSG00000132259	ENST00000379936	D	0.97731	-4.51	5.28	5.28	0.74379	.	0.107027	0.64402	D	0.000008	D	0.96876	0.8980	L	0.29908	0.895	0.47584	D	0.999468	P	0.49783	0.928	P	0.53912	0.737	D	0.97291	0.9924	10	0.59425	D	0.04	.	17.7154	0.88335	0.0:0.0:1.0:0.0	.	501	Q8IV77	CNGA4_HUMAN	H	501	ENSP00000369268:D501H	ENSP00000369268:D501H	D	+	1	0	CNGA4	6221988	1.000000	0.71417	0.908000	0.35775	0.632000	0.37999	4.302000	0.59092	2.763000	0.94921	0.632000	0.83419	GAC	CNGA4	-	NULL		0.562	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	G	NM_001037329		6265412	+1	no_errors	ENST00000379936	ensembl	human	known	70_37	missense	SNP	0.998	C
CNGB1	1258	genome.wustl.edu	37	16	57973451	57973451	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:57973451C>G	ENST00000251102.8	-	16	1315	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q	CNGB1_ENST00000564448.1_Missense_Mutation_p.E413Q|CNGB1_ENST00000564654.1_5'UTR	NM_001297.4	NP_001288.3	Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	419					cation transport (GO:0006812)|cytosolic calcium ion homeostasis (GO:0051480)|detection of light stimulus involved in visual perception (GO:0050908)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|protein heterotetramerization (GO:0051290)|regulation of membrane potential (GO:0042391)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|retina homeostasis (GO:0001895)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of smell (GO:0007608)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|intracellular cyclic nucleotide activated cation channel complex (GO:0017071)|plasma membrane (GO:0005886)|terminal bouton (GO:0043195)|transmembrane transporter complex (GO:1902495)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ttggccttctcttcagcctcc	0.592																																					Colon(156;1293 1853 16336 28962 38659)												0													96.0	103.0	101.0					16																	57973451		1979	4161	6140	SO:0001583	missense	1258			AF042498	CCDS42169.1, CCDS45495.1, CCDS67042.1	16q13	2013-02-14			ENSG00000070729	ENSG00000070729		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2151	protein-coding gene	gene with protein product	"""glutamic acid-rich protein"""	600724		CNCG2, CNCG3L		8766832, 7590744, 16382102	Standard	NM_001297		Approved	RCNC2, RCNCb, GARP, GAR1, CNGB1B, RP45	uc002emt.2	Q14028	OTTHUMG00000154810	ENST00000251102.8:c.1255G>C	16.37:g.57973451C>G	ENSP00000251102:p.Glu419Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	H3BN09|O43636|Q13059|Q14029|Q9UMG2	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.E419Q	ENST00000251102.8	37	c.1255	CCDS42169.1	16	.	.	.	.	.	.	.	.	.	.	C	0.610	-0.825486	0.02734	.	.	ENSG00000070729	ENST00000251102	T	0.30714	1.52	1.25	-2.49	0.06403	.	.	.	.	.	T	0.09862	0.0242	N	0.08118	0	0.09310	N	0.999998	B	0.28026	0.198	B	0.12837	0.008	T	0.21177	-1.0253	9	0.20519	T	0.43	.	0.534	0.00633	0.2343:0.3402:0.233:0.1925	.	419	Q14028	CNGB1_HUMAN	Q	419	ENSP00000251102:E419Q	ENSP00000251102:E419Q	E	-	1	0	CNGB1	56530952	0.000000	0.05858	0.000000	0.03702	0.015000	0.08874	-1.055000	0.03493	-1.285000	0.02387	-0.309000	0.09137	GAG	CNGB1	-	NULL		0.592	CNGB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGB1	HGNC	protein_coding	OTTHUMT00000337167.2	C	NM_001297		57973451	-1	no_errors	ENST00000251102	ensembl	human	known	70_37	missense	SNP	0.000	G
CNTD1	124817	genome.wustl.edu	37	17	40956316	40956316	+	Nonsense_Mutation	SNP	C	C	T	rs573823531		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40956316C>T	ENST00000588408.1	+	3	595	c.319C>T	c.(319-321)Cag>Tag	p.Q107*	CNTD1_ENST00000588527.1_Nonsense_Mutation_p.Q24*	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	107	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GAGAGAGTCTCAGAATTGGAG	0.463																																																	0													124.0	117.0	120.0					17																	40956316		2203	4300	6503	SO:0001587	stop_gained	124817			AK097456	CCDS11440.1	17q21.31	2014-07-03	2006-03-31	2006-03-31	ENSG00000176563	ENSG00000176563			26847	protein-coding gene	gene with protein product			"""cyclin N-terminal domain containing"""	CNTD		24891606	Standard	NM_173478		Approved	FLJ40137	uc002ibm.4	Q8N815		ENST00000588408.1:c.319C>T	17.37:g.40956316C>T	ENSP00000465204:p.Gln107*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658Q6|Q8NEP1	Nonsense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like	p.Q107*	ENST00000588408.1	37	c.319	CCDS11440.1	17	.	.	.	.	.	.	.	.	.	.	C	13.88	2.368122	0.42003	.	.	ENSG00000176563	ENST00000315066	.	.	.	5.23	2.87	0.33458	.	0.673105	0.15653	N	0.251271	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07644	T	0.81	-0.0462	5.283	0.15686	0.2085:0.5969:0.0:0.1946	.	.	.	.	X	107	.	ENSP00000316647:Q107X	Q	+	1	0	CNTD1	38209842	0.000000	0.05858	0.092000	0.20876	0.043000	0.13939	0.604000	0.24164	1.212000	0.43366	0.561000	0.74099	CAG	CNTD1	-	superfamily_Cyclin-like		0.463	CNTD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTD1	HGNC	protein_coding	OTTHUMT00000452398.1	C	NM_173478		40956316	+1	no_errors	ENST00000588408	ensembl	human	known	70_37	nonsense	SNP	0.004	T
CNTN5	53942	genome.wustl.edu	37	11	99715931	99715931	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:99715931C>T	ENST00000524871.1	+	6	804	c.514C>T	c.(514-516)Cag>Tag	p.Q172*	CNTN5_ENST00000279463.3_Nonsense_Mutation_p.Q172*|CNTN5_ENST00000528682.1_Nonsense_Mutation_p.Q172*|CNTN5_ENST00000418526.2_Nonsense_Mutation_p.Q98*|CNTN5_ENST00000527185.1_Nonsense_Mutation_p.Q172*	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	172	Ig-like C2-type 1.				cell adhesion (GO:0007155)|sensory perception of sound (GO:0007605)	anchored component of membrane (GO:0031225)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TGGTCATTATCAGTGTTTAGC	0.358																																																	0													132.0	127.0	128.0					11																	99715931		1843	4111	5954	SO:0001587	stop_gained	53942			AB013802	CCDS53696.1, CCDS53697.1, CCDS58168.1	11q22.1	2013-02-11			ENSG00000149972	ENSG00000149972		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2175	protein-coding gene	gene with protein product		607219					Standard	NM_014361		Approved	NB-2, hNB-2	uc021qpb.1	O94779	OTTHUMG00000167579	ENST00000524871.1:c.514C>T	11.37:g.99715931C>T	ENSP00000435637:p.Gln172*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4P0|B7ZM07|E9PKE8|O94780|Q49AF3	Nonsense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q172*	ENST00000524871.1	37	c.514	CCDS53696.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.963303	0.97151	.	.	ENSG00000149972	ENST00000527185;ENST00000528682;ENST00000524871;ENST00000418526;ENST00000279463	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	18.59	0.91206	0.0:1.0:0.0:0.0	.	.	.	.	X	172;172;172;98;172	.	ENSP00000279463:Q172X	Q	+	1	0	CNTN5	99221141	1.000000	0.71417	0.993000	0.49108	0.900000	0.52787	7.426000	0.80270	2.639000	0.89480	0.650000	0.86243	CAG	CNTN5	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.358	CNTN5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNTN5	HGNC	protein_coding	OTTHUMT00000395148.2	C	NM_014361		99715931	+1	no_errors	ENST00000279463	ensembl	human	known	70_37	nonsense	SNP	1.000	T
COL11A2	1302	genome.wustl.edu	37	6	33154583	33154583	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:33154583C>T	ENST00000374708.4	-	5	877	c.619G>A	c.(619-621)Gag>Aag	p.E207K	COL11A2_ENST00000374713.1_Missense_Mutation_p.E207K|COL11A2_ENST00000361917.1_Missense_Mutation_p.E207K|COL11A2_ENST00000341947.2_Missense_Mutation_p.E207K|COL11A2_ENST00000395197.1_Missense_Mutation_p.E207K|COL11A2_ENST00000357486.1_Missense_Mutation_p.E207K|COL11A2_ENST00000374712.1_Missense_Mutation_p.E207K|COL11A2_ENST00000374714.1_Missense_Mutation_p.E207K|COL11A2_ENST00000395194.1_Missense_Mutation_p.E207K	NM_080681.2	NP_542412.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	207	Laminin G-like.				cartilage development (GO:0051216)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATGGCCAGCTCCTGGACATCA	0.547																																					Melanoma(1;90 116 3946 5341 17093)												0													132.0	126.0	128.0					6																	33154583		2203	4300	6503	SO:0001583	missense	1302			U32169	CCDS43452.1, CCDS54992.1	6p21.3	2013-01-16			ENSG00000204248	ENSG00000204248		"""Collagens"""	2187	protein-coding gene	gene with protein product		120290		DFNA13, DFNB53		7559422, 10581026	Standard	NM_080679		Approved	HKE5	uc003ocx.1	P13942	OTTHUMG00000031036	ENST00000374708.4:c.619G>A	6.37:g.33154583C>T	ENSP00000363840:p.Glu207Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLX2|E7ER90|Q07751|Q13271|Q13272|Q13273|Q5JP94|Q5SUI8|Q7Z6C3|Q99866|Q9UIP9	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Laminin_G,smart_Fib_collagen_C	p.E207K	ENST00000374708.4	37	c.619	CCDS43452.1	6	.	.	.	.	.	.	.	.	.	.	C	15.25	2.777365	0.49786	.	.	ENSG00000204248	ENST00000374708;ENST00000341947;ENST00000357486;ENST00000374714;ENST00000374713;ENST00000395197;ENST00000374712;ENST00000361917;ENST00000457788;ENST00000395194	T;T;T;T;T;T;T;T;T;T	0.77489	-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1;-1.1	4.21	3.26	0.37387	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.077622	0.51477	D	0.000089	T	0.68842	0.3045	L	0.32530	0.975	0.38870	D	0.956689	B;B;B;P	0.51147	0.033;0.073;0.073;0.942	B;B;B;P	0.54815	0.03;0.04;0.04;0.761	T	0.72626	-0.4236	10	0.59425	D	0.04	.	10.1016	0.42509	0.0:0.6809:0.3191:0.0	.	207;207;207;207	Q7Z6C3;P13942-8;P13942-6;P13942	.;.;.;COBA2_HUMAN	K	207	ENSP00000363840:E207K;ENSP00000339915:E207K;ENSP00000350079:E207K;ENSP00000363846:E207K;ENSP00000363845:E207K;ENSP00000378623:E207K;ENSP00000363844:E207K;ENSP00000355123:E207K;ENSP00000405520:E207K;ENSP00000378620:E207K	ENSP00000339915:E207K	E	-	1	0	COL11A2	33262561	1.000000	0.71417	0.994000	0.49952	0.511000	0.34104	2.922000	0.48860	2.342000	0.79632	0.442000	0.29010	GAG	COL11A2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.547	COL11A2-001	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	COL11A2	HGNC	protein_coding	OTTHUMT00000076032.2	C			33154583	-1	no_errors	ENST00000341947	ensembl	human	known	70_37	missense	SNP	1.000	T
COL12A1	1303	genome.wustl.edu	37	6	75825740	75825740	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:75825740G>A	ENST00000322507.8	-	48	7862	c.7553C>T	c.(7552-7554)tCa>tTa	p.S2518L	COL12A1_ENST00000483888.2_Missense_Mutation_p.S2518L|COL12A1_ENST00000345356.6_Missense_Mutation_p.S1354L|COL12A1_ENST00000416123.2_Missense_Mutation_p.S2518L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2518	Nonhelical region (NC3).				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTACCTGGTGAGGTGTAGCC	0.313																																																	0													92.0	86.0	88.0					6																	75825740		1856	4079	5935	SO:0001583	missense	1303			U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.7553C>T	6.37:g.75825740G>A	ENSP00000325146:p.Ser2518Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A	p.S2518L	ENST00000322507.8	37	c.7553	CCDS43482.1	6	.	.	.	.	.	.	.	.	.	.	G	21.6	4.169751	0.78452	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888;ENST00000493109	D;D;D;D;D;T	0.89681	-2.1;-2.55;-2.2;-2.06;-2.07;0.66	4.54	3.67	0.42095	Concanavalin A-like lectin/glucanase (1);	0.079635	0.52532	D	0.000070	T	0.78861	0.4350	N	0.10760	0.04	0.41599	D	0.988847	D;P	0.61697	0.99;0.947	P;P	0.57152	0.814;0.643	T	0.80730	-0.1252	10	0.33940	T	0.23	.	12.7789	0.57466	0.0802:0.0:0.9198:0.0	.	1354;2518	Q99715-2;Q99715	.;COCA1_HUMAN	L	2518;156;2518;1354;2518;2518;72	ENSP00000325146:S2518L;ENSP00000399812:S156L;ENSP00000305147:S1354L;ENSP00000412864:S2518L;ENSP00000421216:S2518L;ENSP00000423423:S72L	ENSP00000325146:S2518L	S	-	2	0	COL12A1	75882460	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.174000	0.94824	1.024000	0.39682	-0.136000	0.14681	TCA	COL12A1	-	superfamily_ConA-like_lec_gl_sf		0.313	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL12A1	HGNC	protein_coding	OTTHUMT00000041249.3	G	NM_004370		75825740	-1	no_errors	ENST00000322507	ensembl	human	known	70_37	missense	SNP	1.000	A
COL18A1	80781	genome.wustl.edu	37	21	46925806	46925806	+	Missense_Mutation	SNP	G	G	C	rs201265799		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:46925806G>C	ENST00000359759.4	+	36	4408	c.4387G>C	c.(4387-4389)Gag>Cag	p.E1463Q	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.E1048Q|COL18A1_ENST00000355480.5_Missense_Mutation_p.E1228Q			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1463	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CGAGGTTCCCGAGGGCTGGCT	0.667																																																	0													72.0	84.0	80.0					21																	46925806		2071	4183	6254	SO:0001583	missense	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4387G>C	21.37:g.46925806G>C	ENSP00000352798:p.Glu1463Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.E1463Q	ENST00000359759.4	37	c.4387		21	.	.	.	.	.	.	.	.	.	.	G	21.4	4.148798	0.78001	.	.	ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	3.93	3.93	0.45458	Collagenase NC10/endostatin (1);	0.000000	0.85682	U	0.000000	T	0.69557	0.3124	M	0.84846	2.72	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.996;0.993;0.993	T	0.73282	-0.4032	10	0.45353	T	0.12	.	13.0632	0.59018	0.0:0.0:1.0:0.0	.	1463;1045;1228;1048	P39060;D3DSM4;P39060-1;P39060-2	COIA1_HUMAN;.;.;.	Q	1048;1048;1228;1463;1463;396	ENSP00000383191:E1048Q;ENSP00000347665:E1228Q;ENSP00000352798:E1463Q;ENSP00000339118:E396Q	ENSP00000339118:E396Q	E	+	1	0	COL18A1	45750234	1.000000	0.71417	0.909000	0.35828	0.937000	0.57800	5.448000	0.66612	1.911000	0.55334	0.491000	0.48974	GAG	COL18A1	-	pfam_Collagenase_NC10/endostatin		0.667	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46925806	+1	no_errors	ENST00000359759	ensembl	human	known	70_37	missense	SNP	0.982	C
COL18A1	80781	genome.wustl.edu	37	21	46925859	46925859	+	Missense_Mutation	SNP	G	G	C	rs374911370		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:46925859G>C	ENST00000359759.4	+	36	4461	c.4440G>C	c.(4438-4440)caG>caC	p.Q1480H	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.Q1065H|COL18A1_ENST00000355480.5_Missense_Mutation_p.Q1245H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1480	Nonhelical region 11 (NC11).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endothelial cell morphogenesis (GO:0001886)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|response to drug (GO:0042493)|response to hydrostatic pressure (GO:0051599)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		TCCGCGTGCAGAACGGGTTCC	0.662																																																	0													97.0	115.0	109.0					21																	46925859		2093	4189	6282	SO:0001583	missense	80781				CCDS42971.1, CCDS42972.1	21q22.3	2013-01-16			ENSG00000182871	ENSG00000182871		"""Collagens"""	2195	protein-coding gene	gene with protein product	"""endostatin"""	120328	"""Knobloch syndrome, type 1"""	KNO		8188291, 8776601, 10942434, 17546652	Standard	NM_130445		Approved	KS, KNO1	uc002zhi.3	P39060	OTTHUMG00000090407	ENST00000359759.4:c.4440G>C	21.37:g.46925859G>C	ENSP00000352798:p.Gln1480His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVI4|Q58EX6|Q6RZ39|Q6RZ40|Q6RZ41|Q8N4S4|Q8WXI5|Q96T70|Q9UK38|Q9Y6Q7|Q9Y6Q8	Missense_Mutation	SNP	pfam_Collagenase_NC10/endostatin,pfam_DUF959_COL18_N,pfam_Collagen,pfam_Frizzled_dom,superfamily_C-type_lectin_fold,superfamily_ConA-like_lec_gl_sf,superfamily_Frizzled_dom,smart_Frizzled_dom,smart_Laminin_G,pfscan_Frizzled_dom	p.Q1480H	ENST00000359759.4	37	c.4440		21	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	5.944|5.944	0.358124|0.358124	0.11239|0.11239	.|.	.|.	ENSG00000182871|ENSG00000182871	ENST00000400337;ENST00000400347;ENST00000355480;ENST00000359759;ENST00000539645;ENST00000342220|ENST00000423214	T;T;T;T|.	0.43294|.	0.95;0.95;0.95;0.95|.	3.69|3.69	-5.73|-5.73	0.02398|0.02398	Collagenase NC10/endostatin (1);|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.11922|0.11922	0.0290|0.0290	N|N	0.08118|0.08118	0|0	0.21740|0.21740	N|N	0.99957|0.99957	P;B;B;B|.	0.34757|.	0.467;0.087;0.216;0.216|.	B;B;B;B|.	0.35470|.	0.203;0.132;0.128;0.128|.	T|T	0.22208|0.22208	-1.0223|-1.0223	10|5	0.44086|.	T|.	0.13|.	.|.	1.6948|1.6948	0.02859|0.02859	0.4122:0.2298:0.2427:0.1153|0.4122:0.2298:0.2427:0.1153	.|.	1480;1062;1245;1065|.	P39060;D3DSM4;P39060-1;P39060-2|.	COIA1_HUMAN;.;.;.|.	H|T	1065;1065;1245;1480;1480;413|61	ENSP00000383191:Q1065H;ENSP00000347665:Q1245H;ENSP00000352798:Q1480H;ENSP00000339118:Q413H|.	ENSP00000339118:Q413H|.	Q|R	+|+	3|2	2|0	COL18A1|COL18A1	45750287|45750287	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.154000|0.154000	0.21943|0.21943	-3.346000|-3.346000	0.00503|0.00503	-1.065000|-1.065000	0.03168|0.03168	-0.339000|-0.339000	0.08088|0.08088	CAG|AGA	COL18A1	-	pfam_Collagenase_NC10/endostatin		0.662	COL18A1-201	KNOWN	basic|appris_principal	protein_coding	COL18A1	HGNC	protein_coding	OTTHUMT00000206827.1	G			46925859	+1	no_errors	ENST00000359759	ensembl	human	known	70_37	missense	SNP	0.031	C
COL24A1	255631	genome.wustl.edu	37	1	86591470	86591470	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:86591470C>G	ENST00000370571.2	-	3	915	c.549G>C	c.(547-549)aaG>aaC	p.K183N	COL24A1_ENST00000436319.1_Missense_Mutation_p.K183N	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	183	Laminin G-like.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TAAAATATTTCTTTCCACACT	0.343																																																	0													57.0	52.0	54.0					1																	86591470		1827	4084	5911	SO:0001583	missense	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.549G>C	1.37:g.86591470C>G	ENSP00000359603:p.Lys183Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Missense_Mutation	SNP	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.K183N	ENST00000370571.2	37	c.549	CCDS41353.1	1	.	.	.	.	.	.	.	.	.	.	C	3.988	-0.005105	0.07773	.	.	ENSG00000171502	ENST00000370571;ENST00000436319	T;T	0.02258	4.37;4.37	5.61	2.65	0.31530	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G, thrombospondin-type, N-terminal (1);Laminin G, subdomain 2 (1);	0.175079	0.27482	N	0.019162	T	0.00936	0.0031	L	0.55834	1.745	0.30944	N	0.725518	B;B	0.20671	0.047;0.012	B;B	0.16289	0.015;0.011	T	0.45731	-0.9241	10	0.49607	T	0.09	.	6.1889	0.20513	0.1281:0.5545:0.2478:0.0695	.	183;183	F8WDM8;Q17RW2	.;COOA1_HUMAN	N	183	ENSP00000359603:K183N;ENSP00000392531:K183N	ENSP00000359603:K183N	K	-	3	2	COL24A1	86364058	1.000000	0.71417	0.963000	0.40424	0.637000	0.38172	0.888000	0.28268	0.278000	0.22164	0.655000	0.94253	AAG	COL24A1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.343	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	C	NM_152890		86591470	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	missense	SNP	0.976	G
COL4A1	1282	genome.wustl.edu	37	13	110819508	110819508	+	Nonsense_Mutation	SNP	G	G	A	rs377122126		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:110819508G>A	ENST00000375820.4	-	44	4067	c.3946C>T	c.(3946-3948)Caa>Taa	p.Q1316*		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1316	Triple-helical region.				axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GTCTTACCTTGAAATCCTGGA	0.542																																																	0													182.0	170.0	174.0					13																	110819508		2203	4300	6503	SO:0001587	stop_gained	1282			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.3946C>T	13.37:g.110819508G>A	ENSP00000364979:p.Gln1316*	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Nonsense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.Q1316*	ENST00000375820.4	37	c.3946	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	G	42	9.432177	0.99169	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198	.	.	.	5.28	4.42	0.53409	.	0.131926	0.50627	D	0.000108	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7962	0.78412	0.0:0.1366:0.8634:0.0	.	.	.	.	X	959;1316;965	.	ENSP00000364973:Q959X	Q	-	1	0	COL4A1	109617509	1.000000	0.71417	0.998000	0.56505	0.689000	0.40095	3.007000	0.49536	1.197000	0.43143	0.655000	0.94253	CAA	COL4A1	-	pfam_Collagen		0.542	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	G			110819508	-1	no_errors	ENST00000375820	ensembl	human	known	70_37	nonsense	SNP	1.000	A
COL4A5	1287	genome.wustl.edu	37	X	107911727	107911727	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:107911727G>A	ENST00000361603.2	+	41	4027	c.3783G>A	c.(3781-3783)ggG>ggA	p.G1261G	COL4A5_ENST00000328300.6_Silent_p.G1261G	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1261	Triple-helical region.		G -> E (in APSX). {ECO:0000269|PubMed:9848783}.		axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GTCCTCCTGGGAGACCAGGTA	0.522									Alport syndrome with Diffuse Leiomyomatosis																																								0													28.0	27.0	27.0					X																	107911727		2203	4300	6503	SO:0001819	synonymous_variant	1287	Familial Cancer Database		M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.3783G>A	X.37:g.107911727G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Silent	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G1261	ENST00000361603.2	37	c.3783	CCDS14543.1	X																																																																																			COL4A5	-	pfam_Collagen		0.522	COL4A5-001	KNOWN	basic|CCDS	protein_coding	COL4A5	HGNC	protein_coding	OTTHUMT00000057880.2	G			107911727	+1	no_errors	ENST00000328300	ensembl	human	known	70_37	silent	SNP	1.000	A
COL6A3	1293	genome.wustl.edu	37	2	238249571	238249571	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:238249571C>G	ENST00000295550.4	-	38	8440	c.7988G>C	c.(7987-7989)aGa>aCa	p.R2663T	COL6A3_ENST00000346358.4_Missense_Mutation_p.R2463T|COL6A3_ENST00000353578.4_Missense_Mutation_p.R2457T|COL6A3_ENST00000472056.1_Missense_Mutation_p.R2056T|COL6A3_ENST00000347401.3_Missense_Mutation_p.R2462T|COL6A3_ENST00000409809.1_Missense_Mutation_p.R2457T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2663	Nonhelical region.|VWFA 12. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|response to glucose (GO:0009749)	collagen type VI trimer (GO:0005589)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AACTGCCACTCTGGCGAAGTG	0.557																																																	0													104.0	98.0	100.0					2																	238249571		2203	4300	6503	SO:0001583	missense	1293			X52022	CCDS33409.1, CCDS33410.1, CCDS33411.1, CCDS33412.1, CCDS33410.2, CCDS33411.2, CCDS54439.1	2q37	2014-09-17			ENSG00000163359	ENSG00000163359		"""Collagens"""	2213	protein-coding gene	gene with protein product		120250				1339440, 11992252	Standard	NM_004369		Approved		uc002vwl.2	P12111	OTTHUMG00000150020	ENST00000295550.4:c.7988G>C	2.37:g.238249571C>G	ENSP00000295550:p.Arg2663Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MT30|B4E3U5|B7ZMJ7|E9PFQ6|E9PGQ9|Q16501|Q53QF4|Q53QF6	Missense_Mutation	SNP	pfam_VWF_A,pfam_Collagen,pfam_Prot_inh_Kunz-m,superfamily_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,smart_VWF_A,smart_Prot_inh_Kunz-m,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.R2663T	ENST00000295550.4	37	c.7988	CCDS33412.1	2	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050694	0.36181	.	.	ENSG00000163359	ENST00000295550;ENST00000347401;ENST00000353578;ENST00000472056;ENST00000409809;ENST00000346358	D;D;D;D;D;D	0.86769	-2.17;-2.17;-2.17;-2.17;-2.17;-2.17	5.05	5.05	0.67936	von Willebrand factor, type A (3);	0.000000	0.64402	D	0.000018	D	0.94268	0.8159	M	0.85777	2.775	0.53688	D	0.999976	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.993;0.988;0.998	D	0.95018	0.8158	10	0.87932	D	0	.	18.7716	0.91894	0.0:1.0:0.0:0.0	.	2056;2457;2663	E9PFQ6;P12111-2;P12111	.;.;CO6A3_HUMAN	T	2663;2462;2457;2056;2457;2463	ENSP00000295550:R2663T;ENSP00000315609:R2462T;ENSP00000315873:R2457T;ENSP00000418285:R2056T;ENSP00000386844:R2457T;ENSP00000295546:R2463T	ENSP00000295550:R2663T	R	-	2	0	COL6A3	237914310	0.998000	0.40836	0.857000	0.33713	0.782000	0.44232	7.684000	0.84104	2.478000	0.83669	0.655000	0.94253	AGA	COL6A3	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A		0.557	COL6A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL6A3	HGNC	protein_coding	OTTHUMT00000315790.2	C	NM_004369		238249571	-1	no_errors	ENST00000295550	ensembl	human	known	70_37	missense	SNP	1.000	G
COL7A1	1294	genome.wustl.edu	37	3	48619011	48619011	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:48619011C>G	ENST00000328333.8	-	49	4884	c.4777G>C	c.(4777-4779)Gac>Cac	p.D1593H	COL7A1_ENST00000454817.1_Missense_Mutation_p.D1593H|MIR711_ENST00000390201.1_RNA	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1593	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	basement membrane (GO:0005604)|collagen type VII trimer (GO:0005590)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTCACCCGGTCTCCAGGGTCT	0.592																																																	0													100.0	105.0	104.0					3																	48619011		2203	4300	6503	SO:0001583	missense	1294			L02870	CCDS2773.1	3p21.1	2014-09-17	2008-08-01		ENSG00000114270	ENSG00000114270		"""Collagens"", ""Fibronectin type III domain containing"""	2214	protein-coding gene	gene with protein product	"""collagen VII, alpha-1 polypeptide"", ""LC collagen"""	120120	"""epidermolysis bullosa, dystrophic, dominant and recessive"""	EBDCT, EBD1, EBR1		1871109	Standard	NM_000094		Approved		uc003ctz.2	Q02388	OTTHUMG00000133541	ENST00000328333.8:c.4777G>C	3.37:g.48619011C>G	ENSP00000332371:p.Asp1593His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14054|Q16507	Missense_Mutation	SNP	pfam_Collagen,pfam_Fibronectin_type3,pfam_VWF_A,pfam_Prot_inh_Kunz-m,superfamily_Fibronectin_type3,superfamily_Prot_inh_Kunz-m,smart_VWF_A,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_VWF_A,pfscan_Prot_inh_Kunz-m,prints_Prot_inh_Kunz-m	p.D1593H	ENST00000328333.8	37	c.4777	CCDS2773.1	3	.	.	.	.	.	.	.	.	.	.	C	13.41	2.229977	0.39399	.	.	ENSG00000114270	ENST00000328333;ENST00000454817	D;D	0.96300	-3.97;-3.97	5.25	5.25	0.73442	.	0.128435	0.34245	N	0.004123	D	0.97548	0.9197	M	0.70275	2.135	0.39788	D	0.97239	D	0.76494	0.999	D	0.76071	0.987	D	0.97249	0.9896	10	0.27785	T	0.31	.	16.0038	0.80344	0.0:1.0:0.0:0.0	.	1593	Q02388	CO7A1_HUMAN	H	1593	ENSP00000332371:D1593H;ENSP00000412569:D1593H	ENSP00000332371:D1593H	D	-	1	0	COL7A1	48594015	0.965000	0.33210	0.940000	0.37924	0.385000	0.30292	2.041000	0.41213	2.444000	0.82710	0.643000	0.83706	GAC	COL7A1	-	NULL		0.592	COL7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL7A1	HGNC	protein_coding	OTTHUMT00000257519.1	C	NM_000094		48619011	-1	no_errors	ENST00000328333	ensembl	human	known	70_37	missense	SNP	0.986	G
CPEB1	64506	genome.wustl.edu	37	15	83226522	83226522	+	Silent	SNP	G	G	C	rs372219971		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:83226522G>C	ENST00000562019.1	-	4	910	c.594C>G	c.(592-594)ctC>ctG	p.L198L	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000398591.2_Silent_p.L123L|CPEB1_ENST00000398592.2_Intron|CPEB1_ENST00000423133.2_Silent_p.L123L|CPEB1_ENST00000568757.1_Silent_p.L123L|CPEB1_ENST00000261723.6_Silent_p.L201L|CPEB1_ENST00000564522.1_Silent_p.L123L|CPEB1_ENST00000568128.1_Silent_p.L198L|CPEB1_ENST00000450751.2_Silent_p.L123L|CPEB1_ENST00000563800.1_Silent_p.L225L|RP11-152F13.10_ENST00000562833.1_5'Flank			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	198	Ser-rich.				cellular response to amino acid stimulus (GO:0071230)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|mRNA processing (GO:0006397)|negative regulation of cytoplasmic translation (GO:2000766)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|ribonucleoprotein complex (GO:0030529)	metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|nucleotide binding (GO:0000166)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			TCAAATCTGAGAGATGATCTG	0.522																																																	0													96.0	94.0	94.0					15																	83226522		1940	4177	6117	SO:0001819	synonymous_variant	64506			AF329402	CCDS42072.1, CCDS45329.1, CCDS45330.1, CCDS42072.2, CCDS45329.2, CCDS45330.2	15q25.1	2008-02-05				ENSG00000214575			21744	protein-coding gene	gene with protein product		607342				11223249	Standard	NM_001079533		Approved	FLJ13203, CPEB	uc002biv.3	Q9BZB8		ENST00000562019.1:c.594C>G	15.37:g.83226522G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6C6|Q86W46|Q8IV41|Q9BZB7|Q9H8V5	Silent	SNP	pfscan_RRM_dom	p.L198	ENST00000562019.1	37	c.594		15																																																																																			CPEB1	-	NULL		0.522	CPEB1-006	KNOWN	basic|appris_candidate_longest	protein_coding	CPEB1	HGNC	protein_coding	OTTHUMT00000421102.1	G	NM_030594		83226522	-1	no_errors	ENST00000562019	ensembl	human	known	70_37	silent	SNP	1.000	C
CPSF1	29894	genome.wustl.edu	37	8	145622829	145622829	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145622829G>A	ENST00000349769.3	-	22	2352	c.2258C>T	c.(2257-2259)tCc>tTc	p.S753F	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	753					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCTGAAGAGGGAGCCCGAATC	0.677																																					NSCLC(133;1088 1848 27708 34777 35269)												0													56.0	64.0	61.0					8																	145622829		2202	4299	6501	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.2258C>T	8.37:g.145622829G>A	ENSP00000339353:p.Ser753Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.S753F	ENST00000349769.3	37	c.2258	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	18.59	3.656542	0.67586	.	.	ENSG00000071894	ENST00000349769	T	0.35236	1.32	5.4	5.4	0.78164	.	0.253987	0.41194	D	0.000935	T	0.32466	0.0830	L	0.43152	1.355	0.40760	D	0.982992	P	0.41265	0.744	B	0.40659	0.336	T	0.18272	-1.0342	10	0.66056	D	0.02	-12.4848	10.1519	0.42799	0.0917:0.0:0.9083:0.0	.	753	Q10570	CPSF1_HUMAN	F	753	ENSP00000339353:S753F	ENSP00000339353:S753F	S	-	2	0	CPSF1	145593637	1.000000	0.71417	0.999000	0.59377	0.948000	0.59901	4.704000	0.61831	2.538000	0.85594	0.491000	0.48974	TCC	CPSF1	-	NULL		0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145622829	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	A
CPSF1	29894	genome.wustl.edu	37	8	145625203	145625203	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145625203C>G	ENST00000349769.3	-	11	1181	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	363					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCGCCTTGTCAAAGTGGAAC	0.657																																					NSCLC(133;1088 1848 27708 34777 35269)												0													21.0	19.0	20.0					8																	145625203		2170	4248	6418	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.1087G>C	8.37:g.145625203C>G	ENSP00000339353:p.Asp363His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.D363H	ENST00000349769.3	37	c.1087	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	C	15.32	2.799832	0.50208	.	.	ENSG00000071894	ENST00000349769	T	0.45668	0.89	5.4	5.4	0.78164	.	0.091772	0.64402	D	0.000001	T	0.45276	0.1334	L	0.48986	1.54	0.80722	D	1	P;B	0.40553	0.721;0.339	P;B	0.44422	0.449;0.223	T	0.25328	-1.0135	10	0.30854	T	0.27	-0.9759	16.6676	0.85257	0.0:1.0:0.0:0.0	.	285;363	D3DWL9;Q10570	.;CPSF1_HUMAN	H	363	ENSP00000339353:D363H	ENSP00000339353:D363H	D	-	1	0	CPSF1	145596011	1.000000	0.71417	0.998000	0.56505	0.282000	0.26991	7.218000	0.77991	2.527000	0.85204	0.555000	0.69702	GAC	CPSF1	-	NULL		0.657	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	C	NM_013291		145625203	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	G
CPSF1	29894	genome.wustl.edu	37	8	145625597	145625597	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145625597G>C	ENST00000349769.3	-	9	994	c.900C>G	c.(898-900)ctC>ctG	p.L300L	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	300					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TGAGGCTGTTGAGAGCCACGC	0.677																																					NSCLC(133;1088 1848 27708 34777 35269)												0													46.0	35.0	39.0					8																	145625597		2202	4299	6501	SO:0001819	synonymous_variant	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.900C>G	8.37:g.145625597G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AF0	Silent	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.L300	ENST00000349769.3	37	c.900	CCDS34966.1	8																																																																																			CPSF1	-	NULL		0.677	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145625597	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	silent	SNP	1.000	C
CPSF2	53981	genome.wustl.edu	37	14	92608640	92608640	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92608640C>T	ENST00000298875.4	+	8	1079	c.794C>T	c.(793-795)tCa>tTa	p.S265L		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	265					gene expression (GO:0010467)|histone mRNA 3'-end processing (GO:0006398)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	RNA binding (GO:0003723)			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGTGTTTACTCATTGGCACTC	0.398																																					Ovarian(78;28 1788 18702 44111)												0													267.0	247.0	253.0					14																	92608640		2203	4300	6503	SO:0001583	missense	53981			AB037788	CCDS9902.1	14q31.1	2008-07-28	2002-08-29			ENSG00000165934			2325	protein-coding gene	gene with protein product		606028	"""cleavage and polyadenylation specific factor 2, 100kD subunit"""			7969155, 11124543	Standard	NM_017437		Approved	KIAA1367	uc001yah.2	Q9P2I0		ENST00000298875.4:c.794C>T	14.37:g.92608640C>T	ENSP00000298875:p.Ser265Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KME1|Q6NSJ1|Q9H3W7	Missense_Mutation	SNP	pfam_Beta_Casp,pfam_RMMBL,pfam_Beta-lactamas-like,smart_Beta-lactamas-like	p.S265L	ENST00000298875.4	37	c.794	CCDS9902.1	14	.	.	.	.	.	.	.	.	.	.	C	34	5.312846	0.95655	.	.	ENSG00000165934	ENST00000298875	T	0.44881	0.91	5.5	5.5	0.81552	Beta-Casp domain (1);	0.059284	0.64402	D	0.000001	T	0.57460	0.2055	M	0.81682	2.555	0.80722	D	1	P	0.39131	0.661	P	0.44647	0.456	T	0.63093	-0.6714	10	0.72032	D	0.01	.	19.4	0.94625	0.0:1.0:0.0:0.0	.	265	Q9P2I0	CPSF2_HUMAN	L	265	ENSP00000298875:S265L	ENSP00000298875:S265L	S	+	2	0	CPSF2	91678393	1.000000	0.71417	0.956000	0.39512	0.997000	0.91878	7.723000	0.84788	2.575000	0.86900	0.563000	0.77884	TCA	CPSF2	-	pfam_Beta_Casp		0.398	CPSF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF2	HGNC	protein_coding	OTTHUMT00000412123.1	C			92608640	+1	no_errors	ENST00000298875	ensembl	human	known	70_37	missense	SNP	1.000	T
CRB2	286204	genome.wustl.edu	37	9	126132855	126132855	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:126132855G>C	ENST00000373631.3	+	7	1524	c.1523G>C	c.(1522-1524)aGa>aCa	p.R508T	CRB2_ENST00000359999.3_Missense_Mutation_p.R508T|CRB2_ENST00000373629.2_Missense_Mutation_p.R176T	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs family member 2	508	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cardiovascular system development (GO:0072358)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|mesoderm formation (GO:0001707)|negative regulation of endopeptidase activity (GO:0010951)|notochord formation (GO:0014028)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|somitogenesis (GO:0001756)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTTGTCCTGAGACTGCCGGAC	0.602																																																	0													81.0	67.0	72.0					9																	126132855		2203	4300	6503	SO:0001583	missense	286204			AK095783	CCDS6852.2	9q33.2	2014-02-06	2014-02-06		ENSG00000148204	ENSG00000148204			18688	protein-coding gene	gene with protein product		609720	"""crumbs homolog 2 (Drosophila)"""			14767562	Standard	XM_005251934		Approved	FLJ38464, FLJ16786	uc004bnx.1	Q5IJ48	OTTHUMG00000020638	ENST00000373631.3:c.1523G>C	9.37:g.126132855G>C	ENSP00000362734:p.Arg508Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3N4|Q0QD46|Q5JS41|Q5JS43|Q6ZTA9|Q6ZWI6	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R508T	ENST00000373631.3	37	c.1523	CCDS6852.2	9	.	.	.	.	.	.	.	.	.	.	G	2.058	-0.416080	0.04766	.	.	ENSG00000148204	ENST00000359999;ENST00000373631;ENST00000373629	T;T;T	0.78924	-1.22;0.05;-1.22	4.94	1.73	0.24493	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.676008	0.12930	N	0.427443	T	0.60064	0.2240	L	0.35793	1.09	0.09310	N	1	B;B	0.13594	0.002;0.008	B;B	0.12837	0.008;0.004	T	0.37220	-0.9715	10	0.11485	T	0.65	.	2.8384	0.05522	0.0911:0.2812:0.3817:0.246	.	508;508	Q5IJ48;Q5IJ48-2	CRUM2_HUMAN;.	T	508;508;176	ENSP00000353092:R508T;ENSP00000362734:R508T;ENSP00000362732:R176T	ENSP00000353092:R508T	R	+	2	0	CRB2	125172676	0.000000	0.05858	0.989000	0.46669	0.169000	0.22640	-0.312000	0.08113	1.042000	0.40150	0.448000	0.29417	AGA	CRB2	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.602	CRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRB2	HGNC	protein_coding	OTTHUMT00000053990.3	G	NM_173689		126132855	+1	no_errors	ENST00000373631	ensembl	human	known	70_37	missense	SNP	0.000	C
CREBBP	1387	genome.wustl.edu	37	16	3817784	3817784	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3817784C>A	ENST00000262367.5	-	16	3996	c.3187G>T	c.(3187-3189)Gaa>Taa	p.E1063*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1025*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1063	Poly-Glu.				cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTACTCTCTTCTTCCTCTTTA	0.413			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													267.0	236.0	247.0					16																	3817784		2197	4300	6497	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3187G>T	16.37:g.3817784C>A	ENSP00000262367:p.Glu1063*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.E1063*	ENST00000262367.5	37	c.3187	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	49	15.081322	0.99821	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	-19.4274	20.0086	0.97443	0.0:1.0:0.0:0.0	.	.	.	.	X	1063;1093;1025	.	ENSP00000262367:E1063X	E	-	1	0	CREBBP	3757785	1.000000	0.71417	0.997000	0.53966	0.635000	0.38103	7.152000	0.77419	2.808000	0.96608	0.655000	0.94253	GAA	CREBBP	-	NULL		0.413	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380		3817784	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CREBBP	1387	genome.wustl.edu	37	16	3817799	3817799	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3817799C>A	ENST00000262367.5	-	16	3981	c.3172G>T	c.(3172-3174)Gaa>Taa	p.E1058*	CREBBP_ENST00000382070.3_Nonsense_Mutation_p.E1020*	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1058					cellular lipid metabolic process (GO:0044255)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|embryonic digit morphogenesis (GO:0042733)|gene expression (GO:0010467)|germ-line stem cell maintenance (GO:0030718)|histone acetylation (GO:0016573)|homeostatic process (GO:0042592)|innate immune response (GO:0045087)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein complex assembly (GO:0006461)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|response to hypoxia (GO:0001666)|rhythmic process (GO:0048511)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nuclear body (GO:0016604)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|histone acetyltransferase activity (GO:0004402)|MRF binding (GO:0043426)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TCTTTAACTTCTACTTTCACT	0.428			"""T, N, F, Mis, O"""	"""MLL, MORF, RUNXBP2"""	"""ALL, AML, DLBCL, B-NHL """		Rubinstein-Taybi syndrome																																	Dom/Rec	yes		16	16p13.3	1387	CREB binding protein (CBP)	yes	L	0													253.0	226.0	235.0					16																	3817799		2197	4300	6497	SO:0001587	stop_gained	1387			U85962	CCDS10509.1, CCDS45399.1	16p13.3	2011-07-01	2008-08-01		ENSG00000005339	ENSG00000005339		"""Chromatin-modifying enzymes / K-acetyltransferases"""	2348	protein-coding gene	gene with protein product		600140	"""Rubinstein-Taybi syndrome"""	RSTS		8413673	Standard	NM_001079846		Approved	RTS, CBP, KAT3A	uc002cvv.3	Q92793	OTTHUMG00000129431	ENST00000262367.5:c.3172G>T	16.37:g.3817799C>A	ENSP00000262367:p.Glu1058*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUC9|O00147|Q16376|Q4LE28	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.E1058*	ENST00000262367.5	37	c.3172	CCDS10509.1	16	.	.	.	.	.	.	.	.	.	.	C	49	15.504742	0.99836	.	.	ENSG00000005339	ENST00000262367;ENST00000543883;ENST00000382070	.	.	.	5.61	4.66	0.58398	.	0.228496	0.38164	N	0.001783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-12.1365	14.6019	0.68447	0.0:0.9299:0.0:0.0701	.	.	.	.	X	1058;1088;1020	.	ENSP00000262367:E1058X	E	-	1	0	CREBBP	3757800	1.000000	0.71417	0.723000	0.30687	0.902000	0.53008	5.462000	0.66707	1.513000	0.48852	0.655000	0.94253	GAA	CREBBP	-	NULL		0.428	CREBBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CREBBP	HGNC	protein_coding	OTTHUMT00000251591.2	C	NM_004380		3817799	-1	no_errors	ENST00000262367	ensembl	human	known	70_37	nonsense	SNP	0.999	A
CRHR2	1395	genome.wustl.edu	37	7	30721797	30721797	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:30721797C>T	ENST00000471646.1	-	1	517	c.100G>A	c.(100-102)Gag>Aag	p.E34K	CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000506074.2_Missense_Mutation_p.E34K|CRHR2_ENST00000348438.4_Intron	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	34					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cAMP-mediated signaling (GO:0043951)|positive regulation of cAMP-mediated signaling (GO:0043950)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotrophin-releasing factor receptor activity (GO:0015056)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGCCTACCCTCGGGGTCCAGG	0.741																																																	0													7.0	9.0	9.0					7																	30721797		2165	4247	6412	SO:0001583	missense	1395				CCDS5429.1, CCDS56477.1, CCDS56478.1, CCDS75576.1	7p21-p15	2012-08-10			ENSG00000106113	ENSG00000106113		"""GPCR / Class B : Corticotropin-releasing factor receptors"""	2358	protein-coding gene	gene with protein product		602034				8536644	Standard	NM_001883		Approved	CRF2, CRF-RB, HM-CRF	uc003tbp.3	Q13324	OTTHUMG00000023218	ENST00000471646.1:c.100G>A	7.37:g.30721797C>T	ENSP00000418722:p.Glu34Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R967|B3SXS6|B3SXS7|B3SXS8|B3SXT0|F8WA81|O43461|Q4QRJ4|Q99431	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_CRF_rcpt,prints_GPCR_2_secretin-like,prints_GPCR_2_CRF2_rcpt,prints_GPCR_2_diuretic_rcpt	p.E34K	ENST00000471646.1	37	c.100	CCDS5429.1	7	.	.	.	.	.	.	.	.	.	.	C	14.99	2.701411	0.48307	.	.	ENSG00000106113	ENST00000471646;ENST00000506074	T;T	0.55234	0.53;0.53	4.45	1.3	0.21679	GPCR, family 2, extracellular hormone receptor domain (1);	.	.	.	.	T	0.27933	0.0688	N	0.08118	0	0.21386	N	0.9997	B;B;B	0.24920	0.114;0.114;0.114	B;B;B	0.11329	0.004;0.006;0.004	T	0.12477	-1.0546	9	0.10902	T	0.67	.	11.7851	0.52037	0.0:0.4623:0.5377:0.0	.	34;34;34	B3SXT0;B3SXS6;Q13324	.;.;CRFR2_HUMAN	K	34	ENSP00000418722:E34K;ENSP00000426498:E34K	ENSP00000418722:E34K	E	-	1	0	CRHR2	30688322	0.999000	0.42202	1.000000	0.80357	0.977000	0.68977	0.872000	0.28037	0.571000	0.29365	0.563000	0.77884	GAG	CRHR2	-	pfscan_GPCR_2_extracellular_dom,prints_GPCR_2_CRF2_rcpt		0.741	CRHR2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CRHR2	HGNC	protein_coding	OTTHUMT00000250448.3	C			30721797	-1	no_errors	ENST00000471646	ensembl	human	known	70_37	missense	SNP	0.984	T
CRLF3	51379	genome.wustl.edu	37	17	29111327	29111327	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:29111327G>A	ENST00000324238.6	-	8	1331	c.1207C>T	c.(1207-1209)Cga>Tga	p.R403*	CTD-2349P21.10_ENST00000585212.1_RNA|CRLF3_ENST00000544695.1_Nonsense_Mutation_p.R287*|CRLF3_ENST00000577725.1_5'Flank	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	403					G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of cell growth (GO:0030308)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				ATAGTTACTCGAAGCTTGAAG	0.413																																					Pancreas(30;346 881 29244 33464 41299)												0													88.0	81.0	84.0					17																	29111327		2203	4300	6503	SO:0001587	stop_gained	51379			AF120151	CCDS32607.1	17q11.2	2008-05-02				ENSG00000176390			17177	protein-coding gene	gene with protein product		614853					Standard	NM_015986		Approved	CREME9, CYTOR4	uc002hfr.4	Q8IUI8		ENST00000324238.6:c.1207C>T	17.37:g.29111327G>A	ENSP00000318804:p.Arg403*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJF3|B2R8C3|Q2MLY7|Q9UNI3|Q9Y6M8	Nonsense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.R403*	ENST00000324238.6	37	c.1207	CCDS32607.1	17	.	.	.	.	.	.	.	.	.	.	G	36	5.724216	0.96847	.	.	ENSG00000176390	ENST00000324238;ENST00000544695	.	.	.	5.17	4.14	0.48551	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-9.9974	14.8895	0.70597	0.0:0.0:0.7623:0.2377	.	.	.	.	X	403;287	.	ENSP00000318804:R403X	R	-	1	2	CRLF3	26135453	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	2.914000	0.48797	2.561000	0.86390	0.563000	0.77884	CGA	CRLF3	-	NULL		0.413	CRLF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRLF3	HGNC	protein_coding	OTTHUMT00000444354.1	G			29111327	-1	no_errors	ENST00000324238	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CRTAC1	55118	genome.wustl.edu	37	10	99677323	99677323	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:99677323C>T	ENST00000370597.3	-	5	1004	c.649G>A	c.(649-651)Gac>Aac	p.D217N	CRTAC1_ENST00000298819.4_Missense_Mutation_p.D217N|CRTAC1_ENST00000370591.2_Missense_Mutation_p.D217N	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	217						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CGGGAGAGGTCACTGGCCTCA	0.547																																																	0													59.0	50.0	53.0					10																	99677323		2203	4300	6503	SO:0001583	missense	55118			AJ276171	CCDS31266.1, CCDS55723.1	10q22	2007-12-03			ENSG00000095713	ENSG00000095713			14882	protein-coding gene	gene with protein product		606276				11139377	Standard	NM_018058		Approved	FLJ10320, CEP-68, ASPIC1	uc001kou.2	Q9NQ79	OTTHUMG00000018871	ENST00000370597.3:c.649G>A	10.37:g.99677323C>T	ENSP00000359629:p.Asp217Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALN4|Q5T4F8|Q8N4H6|Q8TE52|Q9NQ78|Q9NQ80|Q9NW46	Missense_Mutation	SNP	pfam_FG-GAP,pfam_UnbV_ASPIC,pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd	p.D217N	ENST00000370597.3	37	c.649	CCDS31266.1	10	.	.	.	.	.	.	.	.	.	.	C	14.35	2.509631	0.44660	.	.	ENSG00000095713	ENST00000413387;ENST00000370597;ENST00000298819;ENST00000309155;ENST00000370591	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	5.28	5.28	0.74379	.	0.050966	0.85682	D	0.000000	T	0.16599	0.0399	L	0.34521	1.04	0.51012	D	0.9999	B;B;B	0.19583	0.037;0.022;0.034	B;B;B	0.19391	0.024;0.011;0.025	T	0.05733	-1.0867	10	0.25106	T	0.35	-35.7139	12.291	0.54819	0.0:0.9223:0.0:0.0777	.	217;217;113	Q9NQ79-2;Q9NQ79;Q5T4F6	.;CRAC1_HUMAN;.	N	113;217;217;209;217	ENSP00000408445:D113N;ENSP00000359629:D217N;ENSP00000298819:D217N;ENSP00000310810:D209N;ENSP00000359623:D217N	ENSP00000298819:D217N	D	-	1	0	CRTAC1	99667313	1.000000	0.71417	1.000000	0.80357	0.810000	0.45777	3.869000	0.56062	2.473000	0.83533	0.467000	0.42956	GAC	CRTAC1	-	NULL		0.547	CRTAC1-001	KNOWN	basic|CCDS	protein_coding	CRTAC1	HGNC	protein_coding	OTTHUMT00000049754.1	C	NM_018058		99677323	-1	no_errors	ENST00000370597	ensembl	human	known	70_37	missense	SNP	1.000	T
CRYL1	51084	genome.wustl.edu	37	13	21006309	21006309	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:21006309C>T	ENST00000298248.7	-	5	627	c.565G>A	c.(565-567)Gag>Aag	p.E189K	MIR4499_ENST00000584834.1_RNA|CRYL1_ENST00000382812.1_Missense_Mutation_p.E167K|CRYL1_ENST00000480748.1_5'UTR	NM_015974.2	NP_057058.2	Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	189					fatty acid metabolic process (GO:0006631)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|L-gulonate 3-dehydrogenase activity (GO:0050104)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		CCGGCCACCTCCTTCTGGACT	0.627																																																	0													66.0	73.0	71.0					13																	21006309		2068	4192	6260	SO:0001583	missense	51084			AF077049	CCDS41871.1	13q11	2008-07-18			ENSG00000165475	ENSG00000165475			18246	protein-coding gene	gene with protein product	"""crystallin, lamda 1"", ""L-gulonate 3-dehydrogenase"", ""lambda-crystallin homolog"""	609877				12527201	Standard	NM_015974		Approved	GDH, lambda-CRY, MGC149525, MGC149526	uc001une.3	Q9Y2S2	OTTHUMG00000016516	ENST00000298248.7:c.565G>A	13.37:g.21006309C>T	ENSP00000298248:p.Glu189Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ43|B3KN92|Q0VDI1|Q7Z4Z9|Q9P0G7	Missense_Mutation	SNP	pfam_3-OHacyl-CoA_DH_NAD-bd,pfam_3HC_DH_C,superfamily_6-PGluconate_DH_C-like	p.E189K	ENST00000298248.7	37	c.565	CCDS41871.1	13	.	.	.	.	.	.	.	.	.	.	C	21.6	4.166413	0.78339	.	.	ENSG00000165475	ENST00000298248;ENST00000382812	T;T	0.78003	-1.14;-1.14	5.43	5.43	0.79202	3-hydroxyacyl-CoA dehydrogenase, conserved site (1);NAD(P)-binding domain (1);	0.098834	0.64402	D	0.000002	D	0.92283	0.7552	H	0.95950	3.745	0.80722	D	1	D;D	0.76494	0.999;0.995	D;D	0.80764	0.994;0.954	D	0.94462	0.7677	10	0.87932	D	0	-32.9513	19.239	0.93875	0.0:1.0:0.0:0.0	.	63;189	B4DWM9;Q9Y2S2	.;CRYL1_HUMAN	K	189;167	ENSP00000298248:E189K;ENSP00000372262:E167K	ENSP00000298248:E189K	E	-	1	0	CRYL1	19904309	1.000000	0.71417	0.979000	0.43373	0.827000	0.46813	6.493000	0.73658	2.533000	0.85409	0.491000	0.48974	GAG	CRYL1	-	NULL		0.627	CRYL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRYL1	HGNC	protein_coding	OTTHUMT00000044071.1	C	NM_015974		21006309	-1	no_errors	ENST00000298248	ensembl	human	known	70_37	missense	SNP	1.000	T
CSMD1	64478	genome.wustl.edu	37	8	3165225	3165225	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:3165225C>A	ENST00000520002.1	-	26	4500	c.3945G>T	c.(3943-3945)aaG>aaT	p.K1315N	CSMD1_ENST00000539096.1_Missense_Mutation_p.K1314N|CSMD1_ENST00000602557.1_Missense_Mutation_p.K1315N|CSMD1_ENST00000537824.1_Missense_Mutation_p.K1314N|CSMD1_ENST00000602723.1_Missense_Mutation_p.K1315N|CSMD1_ENST00000400186.3_Missense_Mutation_p.K1315N|CSMD1_ENST00000542608.1_Missense_Mutation_p.K1314N			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	1315	CUB 8. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCTAATGGTCTTTCCTGGGT	0.438																																																	0													201.0	197.0	198.0					8																	3165225		1951	4141	6092	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.3945G>T	8.37:g.3165225C>A	ENSP00000430733:p.Lys1315Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.K1315N	ENST00000520002.1	37	c.3945		8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	5.611|5.611	0.297415|0.297415	0.10622|0.10622	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000335551|ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096	.|T;T;T;T;T	.|0.59906	.|0.23;0.23;0.23;0.23;0.23	4.51|4.51	0.616|0.616	0.17613|0.17613	.|CUB (5);	.|0.149257	.|0.43110	.|D	.|0.000618	T|T	0.34658|0.34658	0.0905|0.0905	N|N	0.16201|0.16201	0.385|0.385	0.49582|0.49582	D|D	0.9998|0.9998	.|B;B;B	.|0.24317	.|0.101;0.002;0.0	.|B;B;B	.|0.27715	.|0.082;0.013;0.006	T|T	0.04593|0.04593	-1.0940|-1.0940	5|10	.|0.22706	.|T	.|0.39	.|.	8.5383|8.5383	0.33377|0.33377	0.0:0.5239:0.0:0.4761|0.0:0.5239:0.0:0.4761	.|.	.|1315;1315;1315	.|E5RIG2;Q96PZ7;Q96PZ7-4	.|.;CSMD1_HUMAN;.	Y|N	795|1315;1315;1177;1314;1314;1314	.|ENSP00000383047:K1315N;ENSP00000430733:K1315N;ENSP00000441462:K1314N;ENSP00000446243:K1314N;ENSP00000441675:K1314N	.|ENSP00000320445:K1177N	D|K	-|-	1|3	0|2	CSMD1|CSMD1	3152632|3152632	0.997000|0.997000	0.39634|0.39634	0.673000|0.673000	0.29887|0.29887	0.403000|0.403000	0.30841|0.30841	0.399000|0.399000	0.20916|0.20916	0.367000|0.367000	0.24454|0.24454	-0.145000|-0.145000	0.13849|0.13849	GAC|AAG	CSMD1	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.438	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	C	NM_033225		3165225	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	0.848	A
CSMD2	114784	genome.wustl.edu	37	1	34082535	34082535	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:34082535C>T	ENST00000373380.1	-	18	2826	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	CSMD2_ENST00000373388.2_Missense_Mutation_p.R95Q|CSMD2_ENST00000373381.4_Missense_Mutation_p.R1996Q|CSMD2_ENST00000373377.1_Missense_Mutation_p.R95Q			Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1956	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTAGTTCCATCGCCGCACTGT	0.517																																																	0													103.0	96.0	99.0					1																	34082535		2203	4300	6503	SO:0001583	missense	114784			AY210418	CCDS380.1, CCDS60082.1	1p34.3	2014-01-28			ENSG00000121904	ENSG00000121904			19290	protein-coding gene	gene with protein product		608398				11472063, 11572484	Standard	NM_001281956		Approved	KIAA1884	uc001bxn.1	Q7Z408	OTTHUMG00000011135	ENST00000373380.1:c.2606G>A	1.37:g.34082535C>T	ENSP00000362478:p.Arg869Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM50|E7EUA6|Q53TY4|Q5VT59|Q8N963|Q96Q03|Q9H4V7|Q9H4V8|Q9H4V9|Q9H4W0|Q9H4W1|Q9H4W2|Q9H4W3|Q9H4W4|Q9HCY5|Q9HCY6|Q9HCY7	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.R1996Q	ENST00000373380.1	37	c.5987		1	.	.	.	.	.	.	.	.	.	.	C	37	6.089858	0.97271	.	.	ENSG00000121904	ENST00000373381;ENST00000373380;ENST00000373377;ENST00000373388	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	6.16	6.16	0.99307	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.85682	D	0.000000	T	0.70029	0.3177	N	0.21240	0.645	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.999	T	0.67534	-0.5646	10	0.38643	T	0.18	.	19.848	0.96722	0.0:1.0:0.0:0.0	.	869;1956;1996	Q7Z408-2;Q7Z408;E7EUA6	.;CSMD2_HUMAN;.	Q	1996;869;95;95	ENSP00000362479:R1996Q;ENSP00000362478:R869Q;ENSP00000362475:R95Q;ENSP00000362486:R95Q	ENSP00000241312:R1956Q	R	-	2	0	CSMD2	33855122	1.000000	0.71417	0.993000	0.49108	0.984000	0.73092	7.796000	0.85898	2.937000	0.99478	0.650000	0.86243	CGA	CSMD2	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.517	CSMD2-002	KNOWN	basic	protein_coding	CSMD2	HGNC	protein_coding	OTTHUMT00000030635.4	C	NM_052896		34082535	-1	no_errors	ENST00000373381	ensembl	human	known	70_37	missense	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113277728	113277728	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:113277728C>A	ENST00000297405.5	-	60	9844	c.9600G>T	c.(9598-9600)caG>caT	p.Q3200H	CSMD3_ENST00000352409.3_Missense_Mutation_p.Q3130H|CSMD3_ENST00000343508.3_Missense_Mutation_p.Q3160H|CSMD3_ENST00000455883.2_Missense_Mutation_p.Q3031H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3200	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTAGCCTGGCTGGCACATGT	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													206.0	172.0	184.0					8																	113277728		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9600G>T	8.37:g.113277728C>A	ENSP00000297405:p.Gln3200His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Q3200H	ENST00000297405.5	37	c.9600	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	C	15.61	2.883690	0.51908	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06;-0.06	5.44	3.65	0.41850	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000002	T	0.63534	0.2519	L	0.31157	0.91	0.44129	D	0.996912	D;D;D	0.71674	0.997;0.998;0.994	D;D;P	0.87578	0.998;0.998;0.879	T	0.57365	-0.7824	10	0.20519	T	0.43	.	8.4935	0.33115	0.0:0.7048:0.0:0.2952	.	3031;3200;3160	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	H	3160;3200;2470;3031;3130	ENSP00000345799:Q3160H;ENSP00000297405:Q3200H;ENSP00000341558:Q2470H;ENSP00000412263:Q3031H;ENSP00000343124:Q3130H	ENSP00000297405:Q3200H	Q	-	3	2	CSMD3	113346904	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.816000	0.27267	0.788000	0.33755	0.585000	0.79938	CAG	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.428	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113277728	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113332155	113332155	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:113332155C>T	ENST00000297405.5	-	46	7465	c.7221G>A	c.(7219-7221)ttG>ttA	p.L2407L	CSMD3_ENST00000352409.3_Silent_p.L2337L|CSMD3_ENST00000343508.3_Silent_p.L2367L|CSMD3_ENST00000455883.2_Silent_p.L2303L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2407	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.L2367L(1)|p.L2407L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATCTTCCGTCAAAATTTCAG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							2	Substitution - coding silent(2)	lung(2)											124.0	126.0	125.0					8																	113332155		2203	4300	6503	SO:0001819	synonymous_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7221G>A	8.37:g.113332155C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Silent	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.L2407	ENST00000297405.5	37	c.7221	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.358	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	C	NM_052900		113332155	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	silent	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	114186060	114186060	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:114186060G>C	ENST00000297405.5	-	4	844	c.600C>G	c.(598-600)atC>atG	p.I200M	CSMD3_ENST00000352409.3_Missense_Mutation_p.I200M|CSMD3_ENST00000519485.1_5'Flank|CSMD3_ENST00000343508.3_Missense_Mutation_p.I160M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I200M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	200	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCTGTAGCGGATCTTGTCCC	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													135.0	121.0	126.0					8																	114186060		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.600C>G	8.37:g.114186060G>C	ENSP00000297405:p.Ile200Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.I200M	ENST00000297405.5	37	c.600	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154242	0.57259	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000455883;ENST00000352409	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.1	-2.61	0.06171	Complement control module (2);Sushi/SCR/CCP (3);	0.096276	0.39274	N	0.001411	T	0.71558	0.3354	M	0.80028	2.48	0.25108	N	0.990736	P;P;D;D	0.55385	0.899;0.95;0.966;0.971	P;P;P;P	0.58331	0.495;0.735;0.787;0.837	T	0.64368	-0.6424	10	0.72032	D	0.01	.	4.5488	0.12098	0.4504:0.0:0.3066:0.243	.	200;200;200;160	Q7Z407-3;Q7Z407-4;Q7Z407;Q7Z407-2	.;.;CSMD3_HUMAN;.	M	160;200;200;200	ENSP00000345799:I160M;ENSP00000297405:I200M;ENSP00000412263:I200M;ENSP00000343124:I200M	ENSP00000297405:I200M	I	-	3	3	CSMD3	114255236	0.993000	0.37304	0.978000	0.43139	0.971000	0.66376	0.264000	0.18497	-0.531000	0.06340	-0.150000	0.13652	ATC	CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.463	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		114186060	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	0.956	C
CSPG4	1464	genome.wustl.edu	37	15	75970197	75970197	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:75970197C>T	ENST00000308508.5	-	9	5073	c.4981G>A	c.(4981-4983)Gag>Aag	p.E1661K	CTD-2026K11.1_ENST00000569467.1_RNA|AC105020.1_ENST00000435356.1_5'Flank	NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1661	Cysteine-containing.|Neurite growth inhibition. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|carbohydrate metabolic process (GO:0005975)|cell proliferation (GO:0008283)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|intracellular signal transduction (GO:0035556)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|small molecule metabolic process (GO:0044281)|tissue remodeling (GO:0048771)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell projection (GO:0042995)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GGGGGCATCTCATGCTCATAC	0.607																																																	0													43.0	45.0	44.0					15																	75970197		2197	4294	6491	SO:0001583	missense	1464			X96753, AY359468	CCDS10284.1	15q24.2	2010-04-19	2007-02-16		ENSG00000173546	ENSG00000173546		"""Proteoglycans / Cell surface : Other"""	2466	protein-coding gene	gene with protein product	"""melanoma-associated chondroitin sulfate proteoglycan"""	601172	"""chondroitin sulfate proteoglycan 4 (melanoma-associated)"""			8790396, 16407841	Standard	NM_001897		Approved	MCSPG, MEL-CSPG, MSK16, NG2, MCSP, HMW-MAA	uc002baw.3	Q6UVK1	OTTHUMG00000142836	ENST00000308508.5:c.4981G>A	15.37:g.75970197C>T	ENSP00000312506:p.Glu1661Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW77|Q92675	Missense_Mutation	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	p.E1661K	ENST00000308508.5	37	c.4981	CCDS10284.1	15	.	.	.	.	.	.	.	.	.	.	C	12.91	2.078261	0.36662	.	.	ENSG00000173546	ENST00000308508	T	0.18657	2.2	4.87	1.65	0.23941	.	0.614325	0.15213	N	0.274388	T	0.13670	0.0331	L	0.46157	1.445	0.33436	D	0.581691	B	0.06786	0.001	B	0.06405	0.002	T	0.35847	-0.9772	10	0.06757	T	0.87	.	5.5649	0.17165	0.0:0.5203:0.296:0.1837	.	1661	Q6UVK1	CSPG4_HUMAN	K	1661	ENSP00000312506:E1661K	ENSP00000312506:E1661K	E	-	1	0	CSPG4	73757252	0.941000	0.31946	0.974000	0.42286	0.875000	0.50365	1.735000	0.38176	0.047000	0.15862	0.485000	0.47835	GAG	CSPG4	-	NULL		0.607	CSPG4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG4	HGNC	protein_coding	OTTHUMT00000286472.1	C	NM_001897		75970197	-1	no_errors	ENST00000308508	ensembl	human	known	70_37	missense	SNP	0.996	T
CSPG5	10675	genome.wustl.edu	37	3	47618348	47618349	+	Missense_Mutation	DNP	CC	CC	AT			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:47618348_47618349CC>AT	ENST00000383738.2	-	2	3265_3266	c.1167_1168GG>AT	c.(1165-1170)ctGGtg>ctATtg	p.V390L	CSPG5_ENST00000264723.4_Missense_Mutation_p.V390L|CSPG5_ENST00000465441.1_5'Flank|CSPG5_ENST00000456150.1_Missense_Mutation_p.V252L	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	390	EGF-like.				axon regeneration (GO:0031103)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|intracellular transport (GO:0046907)|nervous system development (GO:0007399)|regulation of growth (GO:0040008)|regulation of synaptic transmission (GO:0050804)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|Golgi-associated vesicle membrane (GO:0030660)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		ATGTTCTCCACCAGGTAGCACT	0.589																																																	0																																										SO:0001583	missense	10675			AF059274	CCDS2757.1, CCDS56252.1, CCDS56253.1, CCDS74930.1	3p21.3	2008-07-18			ENSG00000114646	ENSG00000114646			2467	protein-coding gene	gene with protein product		606775				9950058	Standard	NM_006574		Approved	NGC	uc003crp.4	O95196	OTTHUMG00000133518	ENST00000383738.2:c.1167_1168delinsAT	3.37:g.47618348_47618349delinsAT	ENSP00000373244:p.Val390Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q71M39|Q71M40	Missense_Mutation|Silent	SNP	pfam_Chon_Sulph_att,pfam_Neural_ProG_Cyt	p.V390L|p.L389	ENST00000383738.2	37	c.1168|c.1167	CCDS56253.1	3																																																																																			CSPG5	-	NULL		0.589	CSPG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSPG5	HGNC	protein_coding	OTTHUMT00000257489.1	C	NM_006574		47618348|47618349	-1	no_errors	ENST00000383738	ensembl	human	known	70_37	missense|silent	SNP	1.000	A|T
CSTF2	1478	genome.wustl.edu	37	X	100077239	100077239	+	Splice_Site	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:100077239G>C	ENST00000372972.2	+	3	153		c.e3-1		SNORA9_ENST00000365361.1_RNA|CSTF2_ENST00000415585.2_Splice_Site	NM_001325.2	NP_001316.1	P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa						gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	cleavage body (GO:0071920)|mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CTGCTCTCCAGATTGGTATAC	0.453																																																	0													64.0	52.0	56.0					X																	100077239		2203	4300	6503	SO:0001630	splice_region_variant	1478			BC017712	CCDS14473.1	Xq22.1	2013-02-12	2002-08-29		ENSG00000101811	ENSG00000101811		"""RNA binding motif (RRM) containing"""	2484	protein-coding gene	gene with protein product		300907	"""cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kD"""			1741396	Standard	XM_006724622		Approved		uc004egh.3	P33240	OTTHUMG00000022709	ENST00000372972.2:c.138-1G>C	X.37:g.100077239G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H951|Q6LA74|Q8N502	Splice_Site	SNP	-	e3-1	ENST00000372972.2	37	c.138-1	CCDS14473.1	X	.	.	.	.	.	.	.	.	.	.	G	19.90	3.912933	0.72983	.	.	ENSG00000101811	ENST00000415585;ENST00000372972;ENST00000458320;ENST00000413437	.	.	.	5.09	5.09	0.68999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.749	0.88429	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CSTF2	99963895	1.000000	0.71417	0.985000	0.45067	0.969000	0.65631	9.154000	0.94694	2.121000	0.65114	0.529000	0.55759	.	CSTF2	-	-		0.453	CSTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSTF2	HGNC	protein_coding	OTTHUMT00000058926.1	G	NM_001325	Intron	100077239	+1	no_errors	ENST00000415585	ensembl	human	known	70_37	splice_site	SNP	1.000	C
CTAGE5	4253	genome.wustl.edu	37	14	39815196	39815196	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:39815196C>G	ENST00000280083.3	+	21	2234	c.1920C>G	c.(1918-1920)ctC>ctG	p.L640L	CTAGE5_ENST00000557038.1_Silent_p.L560L|RP11-407N17.3_ENST00000553728.1_Silent_p.L1175L|CTAGE5_ENST00000396165.4_Silent_p.L611L|CTAGE5_ENST00000341749.3_Silent_p.L628L|CTAGE5_ENST00000341502.5_Silent_p.L640L|CTAGE5_ENST00000348007.3_Silent_p.L597L|CTAGE5_ENST00000556148.1_Silent_p.L565L|RP11-407N17.3_ENST00000603904.1_Silent_p.L611L|CTAGE5_ENST00000553352.1_Silent_p.L611L|CTAGE5_ENST00000396158.2_Silent_p.L645L			O15320	CTGE5_HUMAN	CTAGE family, member 5	640	Pro-rich.				positive regulation of catalytic activity (GO:0043085)	membrane (GO:0016020)	enzyme activator activity (GO:0008047)		CTAGE5/SIP1(2)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0475)		CAGCAGAACTCAGAAGTTTTA	0.373																																																	0													79.0	79.0	79.0					14																	39815196		2203	4300	6503	SO:0001819	synonymous_variant	4253			U94780	CCDS9673.1, CCDS9674.1, CCDS9675.1, CCDS9676.1, CCDS58316.1, CCDS58317.1	14q21.1	2009-09-11	2004-08-24	2004-08-26	ENSG00000150527	ENSG00000150527			7057	protein-coding gene	gene with protein product		602132	"""meningioma expressed antigen 6 (coiled-coil proline-rich)"""	MGEA, MGEA6		9356211, 11149944	Standard	NM_203355		Approved	MEA6, cTAGE-5A, cTAGE-5B, cTAGE-5C, cTAGE-5D, MGEA11	uc001wvi.4	O15320	OTTHUMG00000140258	ENST00000280083.3:c.1920C>G	14.37:g.39815196C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRA6|B4DQS6|D3DSA6|G3XAC5|O00169|Q6MZN2|Q6P2R8|Q86TF6|Q8IX92|Q8IX93	Silent	SNP	NULL	p.L645	ENST00000280083.3	37	c.1935	CCDS9674.1	14																																																																																			CTAGE5	-	NULL		0.373	CTAGE5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	CTAGE5	HGNC	protein_coding	OTTHUMT00000276771.2	C	NM_005930		39815196	+1	no_errors	ENST00000396158	ensembl	human	known	70_37	silent	SNP	0.992	G
CTBP1	1487	genome.wustl.edu	37	4	1222068	1222068	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:1222068C>G	ENST00000290921.6	-	3	440	c.259G>C	c.(259-261)Gag>Cag	p.E87Q	CTBP1_ENST00000382952.3_Missense_Mutation_p.E76Q	NM_001328.2	NP_001319.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	87					Golgi organization (GO:0007030)|negative regulation of cell proliferation (GO:0008285)|negative regulation of histone acetylation (GO:0035067)|negative regulation of histone H4 acetylation (GO:0090241)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of histone deacetylation (GO:0031065)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|regulation of transcription by chromatin organization (GO:0034401)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|protein C-terminus binding (GO:0008022)|protein domain specific binding (GO:0019904)|repressing transcription factor binding (GO:0070491)|RNA polymerase II transcription corepressor activity (GO:0001106)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TTGAACTTCTCCAGGTCCTCC	0.587																																																	0													172.0	151.0	158.0					4																	1222068		2203	4300	6503	SO:0001583	missense	1487			U37408	CCDS3348.1, CCDS43203.1	4p16	2008-02-05			ENSG00000159692	ENSG00000159692			2494	protein-coding gene	gene with protein product	"""brefeldin A-ribosylated substrate"""	602618				9479502	Standard	XM_005272261		Approved	BARS	uc003gcv.1	Q13363	OTTHUMG00000089259	ENST00000290921.6:c.259G>C	4.37:g.1222068C>G	ENSP00000290921:p.Glu87Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5N3|Q7Z2Q5	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom,pfam_6PGDH_NADP-bd	p.E87Q	ENST00000290921.6	37	c.259	CCDS3348.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.67|19.67	3.871339|3.871339	0.72065|0.72065	.|.	.|.	ENSG00000159692|ENSG00000159692	ENST00000382952;ENST00000290921;ENST00000506180;ENST00000514210;ENST00000515399;ENST00000513420|ENST00000504092	T;T;T;T;T;T|.	0.56941|.	0.43;0.43;0.43;0.43;0.43;0.43|.	4.85|4.85	4.85|4.85	0.62838|0.62838	D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.66982|0.66982	0.2845|0.2845	L|L	0.45352|0.45352	1.415|1.415	0.80722|0.80722	D|D	1|1	B;B|.	0.33694|.	0.421;0.208|.	B;B|.	0.39660|.	0.306;0.215|.	T|T	0.64499|0.64499	-0.6393|-0.6393	10|5	0.62326|.	D|.	0.03|.	-33.503|-33.503	17.9751|17.9751	0.89124|0.89124	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	87;76|.	Q13363;Q7Z2Q5|.	CTBP1_HUMAN;.|.	Q|A	76;87;81;76;76;76|2	ENSP00000372411:E76Q;ENSP00000290921:E87Q;ENSP00000424684:E81Q;ENSP00000426470:E76Q;ENSP00000425053:E76Q;ENSP00000420983:E76Q|.	ENSP00000290921:E87Q|.	E|G	-|-	1|2	0|0	CTBP1|CTBP1	1212068|1212068	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.739000|5.739000	0.68622|0.68622	2.223000|2.223000	0.72356|0.72356	0.655000|0.655000	0.94253|0.94253	GAG|GGA	CTBP1	-	pfam_D-isomer_2_OHA_DH_cat_dom		0.587	CTBP1-001	KNOWN	basic|CCDS	protein_coding	CTBP1	HGNC	protein_coding	OTTHUMT00000202938.1	C	NM_001328		1222068	-1	no_errors	ENST00000290921	ensembl	human	known	70_37	missense	SNP	1.000	G
CTBP2	1488	genome.wustl.edu	37	10	126683113	126683113	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:126683113C>G	ENST00000337195.5	-	7	1104	c.705G>C	c.(703-705)caG>caC	p.Q235H	CTBP2_ENST00000531469.1_Missense_Mutation_p.Q235H|CTBP2_ENST00000494626.2_Missense_Mutation_p.Q235H|CTBP2_ENST00000309035.6_Missense_Mutation_p.Q775H|CTBP2_ENST00000334808.6_Missense_Mutation_p.Q303H|CTBP2_ENST00000411419.2_Missense_Mutation_p.Q235H	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	235					negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)|viral genome replication (GO:0019079)|white fat cell differentiation (GO:0050872)	cell junction (GO:0030054)|nucleus (GO:0005634)|synapse (GO:0045202)|transcriptional repressor complex (GO:0017053)	NAD binding (GO:0051287)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CGCAGTCGCTCTGATACAGCA	0.483																																																	0													89.0	82.0	84.0					10																	126683113		2203	4300	6503	SO:0001583	missense	1488			AF016507	CCDS7643.1, CCDS7644.1	10q26.13	2008-08-01			ENSG00000175029	ENSG00000175029			2495	protein-coding gene	gene with protein product		602619				9479502, 11864595	Standard	NM_022802		Approved	ribeye	uc001lie.4	P56545	OTTHUMG00000019224	ENST00000337195.5:c.705G>C	10.37:g.126683113C>G	ENSP00000338615:p.Gln235His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2X5|D3DRF5|O43449|Q5SQP7|Q69YI3|Q86SV0|Q9H2T8	Missense_Mutation	SNP	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom	p.Q775H	ENST00000337195.5	37	c.2325	CCDS7643.1	10	.	.	.	.	.	.	.	.	.	.	C	13.05	2.121472	0.37436	.	.	ENSG00000175029	ENST00000337195;ENST00000309035;ENST00000334808;ENST00000531469;ENST00000494626;ENST00000411419	T;T;T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44;-1.44;-1.44	5.21	5.21	0.72293	D-isomer specific 2-hydroxyacid dehydrogenase, NAD-binding (1);D-isomer specific 2-hydroxyacid dehydrogenase, catalytic domain (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.70141	0.3190	L	0.28400	0.85	0.58432	D	0.999999	B;B;B	0.25521	0.006;0.128;0.005	B;B;B	0.20577	0.009;0.03;0.008	T	0.68534	-0.5383	10	0.49607	T	0.09	.	12.1607	0.54103	0.0:0.9215:0.0:0.0785	.	235;775;303	P56545;P56545-2;Q5SQP8	CTBP2_HUMAN;.;.	H	235;775;303;235;235;235	ENSP00000338615:Q235H;ENSP00000311825:Q775H;ENSP00000357816:Q303H;ENSP00000434630:Q235H;ENSP00000436285:Q235H;ENSP00000410474:Q235H	ENSP00000311825:Q775H	Q	-	3	2	CTBP2	126673103	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.133000	0.50531	2.428000	0.82296	0.561000	0.74099	CAG	CTBP2	-	pfam_D-isomer_2_OHA_DH_NAD-bd,pfam_D-isomer_2_OHA_DH_cat_dom		0.483	CTBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTBP2	HGNC	protein_coding	OTTHUMT00000050900.3	C	NM_001083914		126683113	-1	no_errors	ENST00000309035	ensembl	human	known	70_37	missense	SNP	1.000	G
CTSH	1512	genome.wustl.edu	37	15	79237102	79237102	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:79237102G>A	ENST00000220166.5	-	1	201					NM_004390.3	NP_004381.2	P09668	CATH_HUMAN	cathepsin H						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|bradykinin catabolic process (GO:0010815)|cellular response to thyroid hormone stimulus (GO:0097067)|dichotomous subdivision of terminal units involved in lung branching (GO:0060448)|ERK1 and ERK2 cascade (GO:0070371)|immune response-regulating signaling pathway (GO:0002764)|membrane protein proteolysis (GO:0033619)|metanephros development (GO:0001656)|negative regulation of apoptotic process (GO:0043066)|neuropeptide catabolic process (GO:0010813)|positive regulation of angiogenesis (GO:0045766)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidase activity (GO:0010952)|protein destabilization (GO:0031648)|proteolysis (GO:0006508)|response to retinoic acid (GO:0032526)|spermatogenesis (GO:0007283)|surfactant homeostasis (GO:0043129)|T cell mediated cytotoxicity (GO:0001913)|zymogen activation (GO:0031638)	acrosomal vesicle (GO:0001669)|alveolar lamellar body (GO:0097208)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|outer dense fiber (GO:0001520)	aminopeptidase activity (GO:0004177)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|endopeptidase activity (GO:0004175)|HLA-A specific activating MHC class I receptor activity (GO:0030108)|peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|thyroid hormone binding (GO:0070324)			central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)	10						CCAGCACGCAGAGTTCCTGGC	0.652																																																	0																																										SO:0001627	intron_variant	1512			X07549	CCDS10308.1	15q25.1	2014-01-28			ENSG00000103811	ENSG00000103811	3.4.22.16	"""Cathepsins"""	2535	protein-coding gene	gene with protein product		116820		CPSB		2849458	Standard	NM_004390		Approved	ACC-4, ACC-5	uc021srk.1	P09668	OTTHUMG00000144171	ENST00000220166.5:c.91+130C>T	15.37:g.79237102G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBK0|Q96NY6|Q9BUM7	RNA	SNP	-	NULL	ENST00000220166.5	37	NULL	CCDS10308.1	15																																																																																			CTSH	-	-		0.652	CTSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSH	HGNC	protein_coding	OTTHUMT00000291370.1	G	NM_004390		79237102	-1	no_errors	ENST00000534268	ensembl	human	putative	70_37	rna	SNP	0.025	A
CTSS	1520	genome.wustl.edu	37	1	150705599	150705599	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:150705599C>G	ENST00000368985.3	-	8	1179	c.919G>C	c.(919-921)Gaa>Caa	p.E307Q	CTSS_ENST00000448301.2_Missense_Mutation_p.E257Q	NM_001199739.1|NM_004079.4	NP_001186668.1|NP_004070.3	P25774	CATS_HUMAN	cathepsin S	307					adaptive immune response (GO:0002250)|antigen processing and presentation (GO:0019882)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|basement membrane disassembly (GO:0034769)|cellular response to thyroid hormone stimulus (GO:0097067)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|immune response (GO:0006955)|innate immune response (GO:0045087)|positive regulation of inflammatory response (GO:0050729)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|toll-like receptor signaling pathway (GO:0002224)	endolysosome lumen (GO:0036021)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|lysosome (GO:0005764)|membrane (GO:0016020)	collagen binding (GO:0005518)|cysteine-type endopeptidase activity (GO:0004197)|fibronectin binding (GO:0001968)|laminin binding (GO:0043236)|proteoglycan binding (GO:0043394)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			ATATATCCTTCTTCACCAAAG	0.338																																																	0													90.0	93.0	92.0					1																	150705599		2203	4299	6502	SO:0001583	missense	1520			M90696	CCDS968.1, CCDS55634.1	1q21	2008-02-05			ENSG00000163131	ENSG00000163131	3.4.22.27	"""Cathepsins"""	2545	protein-coding gene	gene with protein product		116845				1373132	Standard	NM_001199739		Approved		uc001evn.3	P25774	OTTHUMG00000035010	ENST00000368985.3:c.919G>C	1.37:g.150705599C>G	ENSP00000357981:p.Glu307Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWC9|D3DV05|Q5T5I0|Q6FHS5|Q9BUG3	Missense_Mutation	SNP	pfam_Peptidase_C1A_C,pfam_Prot_inhib_I29,smart_Prot_inhib_I29,smart_Peptidase_C1A_C,prints_Peptidase_C1A_C	p.E307Q	ENST00000368985.3	37	c.919	CCDS968.1	1	.	.	.	.	.	.	.	.	.	.	C	5.102	0.204480	0.09704	.	.	ENSG00000163131	ENST00000448301;ENST00000368985	D;T	0.97553	-4.43;1.97	5.77	-2.09	0.07232	Peptidase C1A, papain C-terminal (2);	0.890365	0.10115	N	0.714219	T	0.80555	0.4645	N	0.03177	-0.4	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.08055	0.003;0.001	T	0.72683	-0.4219	10	0.15499	T	0.54	.	12.0881	0.53708	0.0:0.0958:0.3919:0.5123	.	257;307	B4DWC9;P25774	.;CATS_HUMAN	Q	257;307	ENSP00000408414:E257Q;ENSP00000357981:E307Q	ENSP00000357981:E307Q	E	-	1	0	CTSS	148972223	0.001000	0.12720	0.029000	0.17559	0.718000	0.41266	-0.516000	0.06282	-0.162000	0.10964	-1.596000	0.00833	GAA	CTSS	-	pfam_Peptidase_C1A_C,smart_Peptidase_C1A_C		0.338	CTSS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTSS	HGNC	protein_coding	OTTHUMT00000084737.1	C	NM_004079		150705599	-1	no_errors	ENST00000368985	ensembl	human	known	70_37	missense	SNP	0.010	G
CUL4A	8451	genome.wustl.edu	37	13	113899366	113899366	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:113899366C>T	ENST00000375440.4	+	13	1521	c.1437C>T	c.(1435-1437)ctC>ctT	p.L479L	CUL4A_ENST00000375441.3_Silent_p.L379L|CUL4A_ENST00000451881.1_Silent_p.L379L|CUL4A_ENST00000326335.4_Silent_p.L379L	NM_001008895.1	NP_001008895.1	Q13619	CUL4A_HUMAN	cullin 4A	479					cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|G1/S transition of mitotic cell cycle (GO:0000082)|hemopoiesis (GO:0030097)|intrinsic apoptotic signaling pathway (GO:0097193)|negative regulation of cell proliferation (GO:0008285)|negative regulation of granulocyte differentiation (GO:0030853)|positive regulation of cell proliferation (GO:0008284)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|regulation of nucleotide-excision repair (GO:2000819)|regulation of protein metabolic process (GO:0051246)|somatic stem cell maintenance (GO:0035019)|viral process (GO:0016032)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			TGTCAAAGCTCAAGCATGGTA	0.473																																																	0													98.0	98.0	98.0					13																	113899366		2203	4300	6503	SO:0001819	synonymous_variant	8451			U58090	CCDS9533.1, CCDS41908.1, CCDS73604.1	13q34	2011-05-24			ENSG00000139842	ENSG00000139842			2554	protein-coding gene	gene with protein product		603137				8681378	Standard	NM_001008895		Approved		uc021rmv.1	Q13619	OTTHUMG00000017384	ENST00000375440.4:c.1437C>T	13.37:g.113899366C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2W2|O75834|Q589T6|Q5TC62|Q6UP08|Q9UP17	Silent	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.L479	ENST00000375440.4	37	c.1437	CCDS41908.1	13																																																																																			CUL4A	-	pfam_Cullin_N,superfamily_Cullin_homology,smart_Cullin_homology,pfscan_Cullin_homology		0.473	CUL4A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CUL4A	HGNC	protein_coding	OTTHUMT00000045888.3	C	NM_003589		113899366	+1	no_errors	ENST00000375440	ensembl	human	known	70_37	silent	SNP	0.917	T
CUX1	1523	genome.wustl.edu	37	7	101813743	101813743	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:101813743G>A	ENST00000292535.7	+	10	779	c.741G>A	c.(739-741)caG>caA	p.Q247Q	CUX1_ENST00000546411.2_Silent_p.Q247Q|CUX1_ENST00000549414.2_Silent_p.Q247Q|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000437600.4_Silent_p.Q258Q|CUX1_ENST00000360264.3_Silent_p.Q258Q|CUX1_ENST00000556210.1_Silent_p.Q247Q|CUX1_ENST00000292538.4_Silent_p.Q258Q|CUX1_ENST00000425244.2_Silent_p.Q212Q|CUX1_ENST00000547394.2_Silent_p.Q242Q|CUX1_ENST00000550008.2_Silent_p.Q247Q|CUX1_ENST00000393824.3_Silent_p.Q221Q	NM_181552.3	NP_853530.2	P39880	CUX1_HUMAN	cut-like homeobox 1	247					auditory receptor cell differentiation (GO:0042491)|kidney development (GO:0001822)|lung development (GO:0030324)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|retrograde transport, vesicle recycling within Golgi (GO:0000301)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGGTGGCTCAGAGAGAGGCGG	0.493																																																	0													36.0	30.0	32.0					7																	101813743		2203	4299	6502	SO:0001819	synonymous_variant	1523			M74099	CCDS5720.1, CCDS5721.1, CCDS47672.1, CCDS56498.1, CCDS56499.1, CCDS56500.1, CCDS59071.1	7q22.1	2012-10-03	2007-11-07	2007-11-07	ENSG00000257923	ENSG00000257923		"""Homeoboxes / CUT class"""	2557	protein-coding gene	gene with protein product	"""golgi integral membrane protein 6"""	116896	"""cut (Drosophila)-like 1 (CCAAT displacement protein)"", ""cut-like 1, CCAAT displacement protein (Drosophila)"""	CUTL1		8468066, 9799793, 15004235	Standard	NM_001202543		Approved	CDP, CDP1, CUX, CUT, Clox, CDP/Cut, CDP/Cux, Cux/CDP, CASP, GOLIM6	uc003uyx.4	P39880	OTTHUMG00000157129	ENST00000292535.7:c.741G>A	7.37:g.101813743G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV79|J3KQV9|Q6NYH4|Q75LE5|Q75MT2|Q75MT3|Q86UJ7|Q9UEV5	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_LemA-like_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.Q258	ENST00000292535.7	37	c.774	CCDS5721.1	7																																																																																			CUX1	-	NULL		0.493	CUX1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	CUX1	HGNC	protein_coding	OTTHUMT00000347535.1	G	NM_001913		101813743	+1	no_errors	ENST00000360264	ensembl	human	known	70_37	silent	SNP	1.000	A
CWF19L2	143884	genome.wustl.edu	37	11	107207441	107207442	+	Splice_Site	INS	-	-	A	rs540909186		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:107207441_107207442insA	ENST00000282251.5	-	15	2230		c.e15-2			NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)								catalytic activity (GO:0003824)			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCTGAACATCTAAAAAAAAAAA	0.257																																																	0																																										SO:0001630	splice_region_variant	143884			AK056905	CCDS8336.2	11q23.1	2005-09-22			ENSG00000152404	ENSG00000152404			26508	protein-coding gene	gene with protein product						14702039	Standard	NM_152434		Approved	FLJ32343	uc010rvp.2	Q2TBE0	OTTHUMG00000152975	ENST00000282251.5:c.2203-2->T	11.37:g.107207452_107207452dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU66|A4FU67|A4FU68|Q6PHW1|Q96MI1	Splice_Site	INS	-	e15-2	ENST00000282251.5	37	c.2203-3_2203-2	CCDS8336.2	11																																																																																			CWF19L2	-	-		0.257	CWF19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWF19L2	HGNC	protein_coding	OTTHUMT00000328825.2	-	NM_152434	Intron	107207442	-1	no_errors	ENST00000282251	ensembl	human	known	70_37	splice_site_ins	INS	0.999:0.586	A
CWH43	80157	genome.wustl.edu	37	4	48996776	48996776	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:48996776C>G	ENST00000226432.4	+	5	835	c.652C>G	c.(652-654)Ctt>Gtt	p.L218V	CWH43_ENST00000513409.1_Missense_Mutation_p.L191V	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	218					GPI anchor biosynthetic process (GO:0006506)	integral component of membrane (GO:0016021)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						AGAAGTCTCTCTTGTTTCCAG	0.542																																																	0													113.0	107.0	109.0					4																	48996776		2203	4300	6503	SO:0001583	missense	80157				CCDS3486.1, CCDS68697.1	4p12-p11	2010-09-21			ENSG00000109182	ENSG00000109182			26133	protein-coding gene	gene with protein product						17714445, 17761529	Standard	NM_025087		Approved	FLJ21511, CWH43-C	uc003gyv.3	Q9H720	OTTHUMG00000128627	ENST00000226432.4:c.652C>G	4.37:g.48996776C>G	ENSP00000226432:p.Leu218Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPD7	Missense_Mutation	SNP	superfamily_Endo/exonuclease/phosphatase	p.L218V	ENST00000226432.4	37	c.652	CCDS3486.1	4	.	.	.	.	.	.	.	.	.	.	C	12.05	1.822353	0.32237	.	.	ENSG00000109182	ENST00000226432;ENST00000513409	T;T	0.41065	1.56;1.01	4.8	3.92	0.45320	.	0.151461	0.30311	N	0.009917	T	0.33030	0.0849	L	0.48362	1.52	0.28817	N	0.897911	B	0.23185	0.081	B	0.24006	0.05	T	0.18935	-1.0321	9	.	.	.	.	8.2301	0.31593	0.1606:0.7573:0.0:0.0821	.	218	Q9H720	PG2IP_HUMAN	V	218;191	ENSP00000226432:L218V;ENSP00000422802:L191V	.	L	+	1	0	CWH43	48691533	0.727000	0.28069	0.997000	0.53966	0.957000	0.61999	1.070000	0.30653	1.303000	0.44873	0.655000	0.94253	CTT	CWH43	-	NULL		0.542	CWH43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWH43	HGNC	protein_coding	OTTHUMT00000250496.2	C	NM_025087		48996776	+1	no_errors	ENST00000226432	ensembl	human	known	70_37	missense	SNP	0.990	G
CXorf56	63932	genome.wustl.edu	37	X	118699296	118699296	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:118699296G>C	ENST00000371594.4	-	1	101	c.23C>G	c.(22-24)tCa>tGa	p.S8*	CXorf56_ENST00000320339.4_5'UTR|CXorf56_ENST00000536133.1_Nonsense_Mutation_p.S8*	NM_022101.3	NP_071384.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	8										cervix(1)|endometrium(2)|lung(7)	10						GCAGACTACTGACCGAGACAC	0.552																																																	0													70.0	63.0	65.0					X																	118699296		2203	4300	6503	SO:0001587	stop_gained	63932			AK026618	CCDS55484.1, CCDS55485.1	Xq24	2008-02-05			ENSG00000018610	ENSG00000018610			26239	protein-coding gene	gene with protein product						12477932	Standard	NM_022101		Approved	FLJ22965	uc004erk.2	Q9H5V9	OTTHUMG00000022276	ENST00000371594.4:c.23C>G	X.37:g.118699296G>C	ENSP00000360652:p.Ser8*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPX7|B4DQN2|D3DWH9|F5GWL7|O43351	Nonsense_Mutation	SNP	NULL	p.S8*	ENST00000371594.4	37	c.23	CCDS14579.1	X	.	.	.	.	.	.	.	.	.	.	G	36	5.609511	0.96637	.	.	ENSG00000018610	ENST00000486230;ENST00000371594;ENST00000536133;ENST00000476164	.	.	.	4.55	4.55	0.56014	.	0.125176	0.53938	D	0.000053	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-6.4544	15.5211	0.75866	0.0:0.0:1.0:0.0	.	.	.	.	X	8	.	ENSP00000360652:S8X	S	-	2	0	CXorf56	118583324	1.000000	0.71417	0.037000	0.18230	0.639000	0.38242	6.332000	0.72934	1.848000	0.53677	0.591000	0.81541	TCA	CXorf56	-	NULL		0.552	CXorf56-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf56	HGNC	protein_coding		G	NM_022101		118699296	-1	no_errors	ENST00000371594	ensembl	human	known	70_37	nonsense	SNP	0.983	C
CT55	54967	genome.wustl.edu	37	X	134292169	134292169	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:134292169G>C	ENST00000276241.6	-	4	718	c.492C>G	c.(490-492)atC>atG	p.I164M	CXorf48_ENST00000344129.2_Missense_Mutation_p.I164M	NM_001031705.2	NP_001026875.1	Q8WUE5	CT55_HUMAN		164										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AAGTTGCCTTGATGTTTGAGA	0.433																																																	0													120.0	107.0	111.0					X																	134292169		2203	4300	6503	SO:0001583	missense	54967																														ENST00000276241.6:c.492C>G	X.37:g.134292169G>C	ENSP00000276241:p.Ile164Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NWY8	Missense_Mutation	SNP	superfamily_NA-bd_OB-fold-like	p.I164M	ENST00000276241.6	37	c.492	CCDS35400.1	X	.	.	.	.	.	.	.	.	.	.	g	3.989	-0.004853	0.07773	.	.	ENSG00000169551	ENST00000276241;ENST00000344129	T;T	0.53423	0.62;0.62	2.21	-1.8	0.07907	.	0.460841	0.15989	N	0.234923	T	0.34454	0.0898	L	0.38175	1.15	0.09310	N	1	P	0.44578	0.838	B	0.41813	0.367	T	0.25398	-1.0133	10	0.49607	T	0.09	-13.5641	9.0529	0.36387	0.0:0.0:0.3952:0.6048	.	164	Q8WUE5	CX048_HUMAN	M	164	ENSP00000276241:I164M;ENSP00000343893:I164M	ENSP00000276241:I164M	I	-	3	3	CXorf48	134119835	0.016000	0.18221	0.000000	0.03702	0.091000	0.18340	-0.668000	0.05268	-0.536000	0.06298	0.279000	0.19357	ATC	CXorf48	-	NULL		0.433	CXorf48-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CXorf48	HGNC	protein_coding	OTTHUMT00000058404.1	G			134292169	-1	no_errors	ENST00000276241	ensembl	human	known	70_37	missense	SNP	0.000	C
CYB5R1	51706	genome.wustl.edu	37	1	202933826	202933826	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:202933826G>C	ENST00000367249.4	-	6	550				CYB5R1_ENST00000497655.1_5'UTR	NM_016243.2	NP_057327.2	Q9UHQ9	NB5R1_HUMAN	cytochrome b5 reductase 1						sterol biosynthetic process (GO:0016126)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)		Flavin adenine dinucleotide(DB03147)	AAAATGCCCTGAGAGGTCAGG	0.473																																																	0													105.0	99.0	101.0					1																	202933826		2203	4300	6503	SO:0001627	intron_variant	51706			AF169481	CCDS1431.1	1q32.1	2011-04-08		2005-07-13	ENSG00000159348	ENSG00000159348	1.6.2.2		13397	protein-coding gene	gene with protein product		608341	"""NAD(P)H:quinone oxidoreductase type 3, polypeptide A2"""	NQO3A2		12975309, 10611283	Standard	NM_016243		Approved	humb5R2	uc001gyt.2	Q9UHQ9	OTTHUMG00000041387	ENST00000367249.4:c.476-3C>G	1.37:g.202933826G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK21|B2R8E0|O95329|Q53F73|Q8NCL5|Q9UHJ1	RNA	SNP	-	NULL	ENST00000367249.4	37	NULL	CCDS1431.1	1																																																																																			CYB5R1	-	-		0.473	CYB5R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYB5R1	HGNC	protein_coding	OTTHUMT00000099155.1	G	NM_016243		202933826	-1	no_errors	ENST00000497655	ensembl	human	known	70_37	rna	SNP	1.000	C
CYP17A1	1586	genome.wustl.edu	37	10	104594005	104594005	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:104594005C>T	ENST00000369887.3	-	4	838				CYP17A1-AS1_ENST00000369884.4_RNA|CYP17A1_ENST00000489268.1_5'UTR	NM_000102.3	NP_000093.1	P05093	CP17A_HUMAN	cytochrome P450, family 17, subfamily A, polypeptide 1						adrenal gland development (GO:0030325)|androgen biosynthetic process (GO:0006702)|biphenyl metabolic process (GO:0018879)|cellular response to antibiotic (GO:0071236)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to lipopolysaccharide (GO:0071222)|dibenzo-p-dioxin metabolic process (GO:0018894)|glucocorticoid biosynthetic process (GO:0006704)|hippocampus development (GO:0021766)|hormone biosynthetic process (GO:0042446)|Leydig cell differentiation (GO:0033327)|ovulation (GO:0030728)|phenol-containing compound metabolic process (GO:0018958)|phthalate metabolic process (GO:0018963)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|progesterone metabolic process (GO:0042448)|response to acetate (GO:0010034)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to fungicide (GO:0060992)|response to herbicide (GO:0009635)|response to insecticide (GO:0017085)|response to ionizing radiation (GO:0010212)|response to methylmercury (GO:0051597)|response to nutrient levels (GO:0031667)|response to retinoic acid (GO:0032526)|response to steroid hormone (GO:0048545)|sex differentiation (GO:0007548)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)|steroid metabolic process (GO:0008202)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	axon (GO:0030424)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)	17-alpha-hydroxyprogesterone aldolase activity (GO:0047442)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|steroid 17-alpha-monooxygenase activity (GO:0004508)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)	Abiraterone(DB05812)|Aminophenazone(DB01424)|Dexamethasone(DB01234)|Metoclopramide(DB01233)|Progesterone(DB00396)	CCCTGACCTTCAGCCAGAATG	0.527																																																	0																																										SO:0001627	intron_variant	414269			M19489	CCDS7541.1	10q24.3	2010-05-04	2003-02-14	2003-02-28	ENSG00000148795	ENSG00000148795	1.14.99.9	"""Cytochrome P450s"""	2593	protein-coding gene	gene with protein product	"""Steroid 17-alpha-monooxygenase"""	609300	"""cytochrome P450, subfamily XVII (steroid 17-alpha-hydroxylase), adrenal hyperplasia"""	CYP17		1347802	Standard	NM_000102		Approved	P450C17, CPT7, S17AH	uc001kwg.3	P05093	OTTHUMG00000018969	ENST00000369887.3:c.667-126G>A	10.37:g.104594005C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TZV7	RNA	SNP	-	NULL	ENST00000369887.3	37	NULL	CCDS7541.1	10																																																																																			CYP17A1-AS1	-	-		0.527	CYP17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP17A1-AS1	HGNC	protein_coding	OTTHUMT00000050101.1	C	NM_000102		104594005	+1	no_errors	ENST00000369884	ensembl	human	known	70_37	rna	SNP	0.023	T
CYP4A22	284541	genome.wustl.edu	37	1	47609027	47609027	+	Missense_Mutation	SNP	G	G	C	rs143840411		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:47609027G>C	ENST00000371891.3	+	5	628	c.597G>C	c.(595-597)aaG>aaC	p.K199N	CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Missense_Mutation_p.K199N|CYP4A22_ENST00000294337.3_Missense_Mutation_p.K199N	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	199						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.K199K(1)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATCATGAAGAGTGCCTTCA	0.562																																					Pancreas(88;1240 1470 2099 14214 37557)												1	Substitution - coding silent(1)	skin(1)											131.0	115.0	120.0					1																	47609027		2203	4300	6503	SO:0001583	missense	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.597G>C	1.37:g.47609027G>C	ENSP00000360958:p.Lys199Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.K199N	ENST00000371891.3	37	c.597	CCDS30707.1	1	.	.	.	.	.	.	.	.	.	.	g	10.18	1.278439	0.23307	.	.	ENSG00000162365	ENST00000371890;ENST00000371891;ENST00000294337	T;T;T	0.69175	-0.38;-0.38;-0.38	1.44	1.44	0.22558	.	0.100458	0.64402	D	0.000003	T	0.80243	0.4587	M	0.91818	3.245	0.43141	D	0.994894	D;D	0.89917	1.0;0.988	D;D	0.91635	0.999;0.93	T	0.78471	-0.2191	10	0.87932	D	0	.	3.1653	0.06534	0.5405:0.0:0.4595:0.0	.	199;199	Q5TCH5;Q5TCH4	.;CP4AM_HUMAN	N	199	ENSP00000360957:K199N;ENSP00000360958:K199N;ENSP00000294337:K199N	ENSP00000294337:K199N	K	+	3	2	CYP4A22	47381614	0.998000	0.40836	0.981000	0.43875	0.245000	0.25701	0.315000	0.19451	1.127000	0.42034	0.194000	0.17425	AAG	CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-II		0.562	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47609027	+1	no_errors	ENST00000371891	ensembl	human	known	70_37	missense	SNP	1.000	C
CYP4A22	284541	genome.wustl.edu	37	1	47610227	47610227	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:47610227G>A	ENST00000371891.3	+	8	934	c.903G>A	c.(901-903)gaG>gaA	p.E301E	CYP4A22_ENST00000485117.1_Intron|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Intron|CYP4A22_ENST00000294337.3_Silent_p.E301E	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	301						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCCAGATGGAGAATGGGAGCA	0.537																																					Pancreas(88;1240 1470 2099 14214 37557)												0													179.0	169.0	172.0					1																	47610227		2203	4300	6503	SO:0001819	synonymous_variant	284541				CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.903G>A	1.37:g.47610227G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-II,prints_Cyt_P450_E_grp-IV	p.E301	ENST00000371891.3	37	c.903	CCDS30707.1	1																																																																																			CYP4A22	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.537	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP4A22	HGNC	protein_coding	OTTHUMT00000021635.1	G	XM_208213		47610227	+1	no_errors	ENST00000371891	ensembl	human	known	70_37	silent	SNP	1.000	A
CYP2J2	1573	genome.wustl.edu	37	1	60377994	60377994	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:60377994G>C	ENST00000371204.3	-	3	417				CYP2J2_ENST00000492633.1_5'UTR	NM_000775.2	NP_000766.2	P51589	CP2J2_HUMAN	cytochrome P450, family 2, subfamily J, polypeptide 2						arachidonic acid metabolic process (GO:0019369)|epoxygenase P450 pathway (GO:0019373)|icosanoid metabolic process (GO:0006690)|linoleic acid metabolic process (GO:0043651)|regulation of heart contraction (GO:0008016)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	arachidonic acid 11,12-epoxygenase activity (GO:0008405)|arachidonic acid 14,15-epoxygenase activity (GO:0008404)|arachidonic acid epoxygenase activity (GO:0008392)|aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|linoleic acid epoxygenase activity (GO:0071614)			NS(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|skin(1)	26	all_cancers(7;0.000396)				Apixaban(DB06605)|Astemizole(DB00637)|Cholecalciferol(DB00169)|Levomilnacipran(DB08918)|Masoprocol(DB00179)|Rivaroxaban(DB06228)	CTGGGAAAAAGAAAGTCAACA	0.398																																																	0													122.0	116.0	118.0					1																	60377994		2203	4300	6503	SO:0001627	intron_variant	1573			BC032594	CCDS613.1	1p31.3-p31.2	2008-02-05	2003-01-14		ENSG00000134716	ENSG00000134716		"""Cytochrome P450s"""	2634	protein-coding gene	gene with protein product		601258	"""cytochrome P450, subfamily IIJ (arachidonic acid epoxygenase) polypeptide 2"""			9570962	Standard	NM_000775		Approved		uc001czq.3	P51589	OTTHUMG00000008991	ENST00000371204.3:c.374-11C>G	1.37:g.60377994G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD33|Q8TF13	RNA	SNP	-	NULL	ENST00000371204.3	37	NULL	CCDS613.1	1																																																																																			CYP2J2	-	-		0.398	CYP2J2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2J2	HGNC	protein_coding	OTTHUMT00000024940.1	G	NM_000775		60377994	-1	no_errors	ENST00000492633	ensembl	human	known	70_37	rna	SNP	0.000	C
CYP7A1	1581	genome.wustl.edu	37	8	59405044	59405044	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:59405044G>A	ENST00000301645.3	-	5	1220	c.1083C>T	c.(1081-1083)ctC>ctT	p.L361L		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	361					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cholesterol catabolic process (GO:0006707)|cholesterol homeostasis (GO:0042632)|regulation of bile acid biosynthetic process (GO:0070857)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|intracellular membrane-bounded organelle (GO:0043231)	cholesterol 7-alpha-monooxygenase activity (GO:0008123)|heme binding (GO:0020037)|iron ion binding (GO:0005506)	p.L361L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TCCGGATGTTGAGGGAGGCAC	0.408									Neonatal Giant Cell Hepatitis																																								1	Substitution - coding silent(1)	breast(1)											119.0	108.0	111.0					8																	59405044		2203	4300	6503	SO:0001819	synonymous_variant	1581	Familial Cancer Database	Neonatal Hemochromatosis	M89803	CCDS6171.1	8q11-q12	2010-05-04	2003-01-14		ENSG00000167910	ENSG00000167910	1.14.13.17	"""Cytochrome P450s"""	2651	protein-coding gene	gene with protein product	"""cholesterol 7 alpha-monooxygenase"""	118455	"""cytochrome P450, subfamily VIIA (cholesterol 7 alpha-monooxygenase), polypeptide 1"""	CYP7		1358792	Standard	NM_000780		Approved		uc003xtm.4	P22680	OTTHUMG00000164301	ENST00000301645.3:c.1083C>T	8.37:g.59405044G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P78454|Q3MIL8|Q7KZ19	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I	p.L361	ENST00000301645.3	37	c.1083	CCDS6171.1	8																																																																																			CYP7A1	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.408	CYP7A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7A1	HGNC	protein_coding	OTTHUMT00000378190.1	G	NM_000780		59405044	-1	no_errors	ENST00000301645	ensembl	human	known	70_37	silent	SNP	0.999	A
CYTH3	9265	genome.wustl.edu	37	7	6204918	6204918	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6204918C>T	ENST00000350796.3	-	12	1249	c.1113G>A	c.(1111-1113)tgG>tgA	p.W371*	CYTH3_ENST00000488964.1_5'Flank|CYTH3_ENST00000396741.2_Nonsense_Mutation_p.W286*	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	372	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGGATTTCATCCACTCCTCCT	0.642																																																	0													37.0	39.0	38.0					7																	6204918		2203	4300	6503	SO:0001587	stop_gained	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1113G>A	7.37:g.6204918C>T	ENSP00000297044:p.Trp371*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2N8	Nonsense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.W371*	ENST00000350796.3	37	c.1113	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	C	37	6.622305	0.97714	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	.	.	.	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2844	0.90110	0.0:1.0:0.0:0.0	.	.	.	.	X	371;286	.	ENSP00000297044:W371X	W	-	3	0	CYTH3	6171443	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.672000	0.83956	2.407000	0.81776	0.561000	0.74099	TGG	CYTH3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.642	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	C	NM_004227		6204918	-1	no_errors	ENST00000350796	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CYTH3	9265	genome.wustl.edu	37	7	6204977	6204977	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6204977C>T	ENST00000350796.3	-	12	1190	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	CYTH3_ENST00000488964.1_5'Flank|CYTH3_ENST00000396741.2_Missense_Mutation_p.E267K	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	353	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						TGGTTCCCCTCTACCACGCGG	0.597																																																	0													49.0	48.0	48.0					7																	6204977		2203	4300	6503	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.1054G>A	7.37:g.6204977C>T	ENSP00000297044:p.Glu352Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2N8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.E352K	ENST00000350796.3	37	c.1054	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	C	29.6	5.018198	0.93404	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.16743	2.32;2.32	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.29256	0.0728	M	0.75264	2.295	0.80722	D	1	B;P	0.39964	0.405;0.697	B;B	0.41666	0.346;0.363	T	0.08472	-1.0720	10	0.72032	D	0.01	.	18.7418	0.91775	0.0:1.0:0.0:0.0	.	267;352	B7Z2V9;O43739-2	.;.	K	352;267	ENSP00000297044:E352K;ENSP00000379967:E267K	ENSP00000297044:E352K	E	-	1	0	CYTH3	6171502	1.000000	0.71417	1.000000	0.80357	0.580000	0.36256	7.686000	0.84128	2.518000	0.84900	0.561000	0.74099	GAG	CYTH3	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	C	NM_004227		6204977	-1	no_errors	ENST00000350796	ensembl	human	known	70_37	missense	SNP	1.000	T
CYTH3	9265	genome.wustl.edu	37	7	6209731	6209731	+	Intron	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6209731G>T	ENST00000350796.3	-	9	960				CYTH3_ENST00000488964.1_Intron|CYTH3_ENST00000396741.2_Intron	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3						establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						GACAAGCAGGGACAGCCCGTC	0.567																																																	0																																										SO:0001627	intron_variant	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.823+434C>A	7.37:g.6209731G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2N8	RNA	SNP	-	NULL	ENST00000350796.3	37	NULL	CCDS5346.1	7																																																																																			CYTH3	-	-		0.567	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	G	NM_004227		6209731	-1	no_errors	ENST00000465320	ensembl	human	known	70_37	rna	SNP	1.000	T
D2HGDH	728294	genome.wustl.edu	37	2	242688385	242688385	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:242688385C>T	ENST00000321264.4	+	7	1062				D2HGDH_ENST00000537090.1_Missense_Mutation_p.S320L|D2HGDH_ENST00000403782.1_Intron|D2HGDH_ENST00000342518.6_Intron	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase						2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular protein metabolic process (GO:0044267)|response to cobalt ion (GO:0032025)|response to manganese ion (GO:0010042)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	(R)-2-hydroxyglutarate dehydrogenase activity (GO:0051990)|flavin adenine dinucleotide binding (GO:0050660)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTCGCCTCTTCGTGCCACGCC	0.682																																																	0																																										SO:0001627	intron_variant	728294			AK091725	CCDS33426.1, CCDS74684.1	2p25.3	2010-05-11			ENSG00000180902	ENSG00000180902	1.1.99.-		28358	protein-coding gene	gene with protein product		609186				15070399, 15609246	Standard	NM_152783		Approved	MGC25181, D2HGD, FLJ42195	uc002wce.1	Q8N465	OTTHUMG00000151474	ENST00000321264.4:c.854-1181C>T	2.37:g.242688385C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3L6|E7ENP2|Q6IQ24|Q8N5Q8	Missense_Mutation	SNP	pfam_Oxid_FAD_bind_N,superfamily_FAD-bd_2	p.S320L	ENST00000321264.4	37	c.959	CCDS33426.1	2	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.108363	0.00353	.	.	ENSG00000180902	ENST00000537090	D	0.87412	-2.25	0.427	-0.854	0.10705	.	.	.	.	.	T	0.63581	0.2523	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.53739	-0.8396	5	0.02654	T	1	.	.	.	.	.	.	.	.	L	320	ENSP00000442796:S320L	ENSP00000442796:S320L	S	+	2	0	D2HGDH	242337058	0.003000	0.15002	0.010000	0.14722	0.010000	0.07245	-0.990000	0.03732	-0.568000	0.06038	-0.600000	0.04104	TCG	D2HGDH	-	NULL		0.682	D2HGDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	D2HGDH	HGNC	protein_coding	OTTHUMT00000322794.2	C	NM_152783		242688385	+1	no_errors	ENST00000537090	ensembl	human	known	70_37	missense	SNP	0.011	T
DAGLB	221955	genome.wustl.edu	37	7	6487442	6487442	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6487442C>T	ENST00000297056.6	-	1	201	c.32G>A	c.(31-33)tGg>tAg	p.W11*	DAGLB_ENST00000428902.2_5'UTR|DAGLB_ENST00000479922.2_5'UTR|DAGLB_ENST00000421761.2_5'UTR|KDELR2_ENST00000463747.1_Intron|DAGLB_ENST00000436575.1_Intron|DAGLB_ENST00000425398.2_Nonsense_Mutation_p.W11*	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	11					arachidonic acid metabolic process (GO:0019369)|blood coagulation (GO:0007596)|lipid catabolic process (GO:0016042)|neuroblast proliferation (GO:0007405)|neurotransmitter biosynthetic process (GO:0042136)|platelet activation (GO:0030168)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCGATGGCCCAGCGCCGGCC	0.677																																																	0													31.0	33.0	32.0					7																	6487442		2202	4300	6502	SO:0001587	stop_gained	221955			AF450090	CCDS5350.1, CCDS47536.1	7p22.1	2008-03-18			ENSG00000164535	ENSG00000164535	3.1.1.-		28923	protein-coding gene	gene with protein product		614016					Standard	NM_139179		Approved	KCCR13L, DAGLBETA	uc003sqa.3	Q8NCG7	OTTHUMG00000125513	ENST00000297056.6:c.32G>A	7.37:g.6487442C>T	ENSP00000297056:p.Trp11*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2P3|B3KV90|B4DQU0|Q6PIX3|Q8N2N2|Q8N9S1|Q8TED3|Q8WXE6	Nonsense_Mutation	SNP	pfam_Lipase_3	p.W11*	ENST00000297056.6	37	c.32	CCDS5350.1	7	.	.	.	.	.	.	.	.	.	.	C	39	7.645431	0.98409	.	.	ENSG00000164535	ENST00000297056;ENST00000425398;ENST00000471132;ENST00000432248	.	.	.	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.5108	0.90916	0.0:1.0:0.0:0.0	.	.	.	.	X	11	.	ENSP00000297056:W11X	W	-	2	0	DAGLB	6453967	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.424000	0.73366	2.483000	0.83821	0.555000	0.69702	TGG	DAGLB	-	NULL		0.677	DAGLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAGLB	HGNC	protein_coding	OTTHUMT00000246840.2	C	NM_139179		6487442	-1	no_errors	ENST00000297056	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DAP3	7818	genome.wustl.edu	37	1	155658957	155658957	+	5'UTR	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155658957C>A	ENST00000368336.5	+	0	109				YY1AP1_ENST00000361831.5_5'Flank|YY1AP1_ENST00000311573.5_5'Flank|YY1AP1_ENST00000476093.1_5'Flank|YY1AP1_ENST00000407221.1_5'Flank|YY1AP1_ENST00000368339.5_5'Flank|YY1AP1_ENST00000405763.3_5'Flank|DAP3_ENST00000471642.2_5'UTR|YY1AP1_ENST00000368340.5_5'Flank|YY1AP1_ENST00000347088.5_5'Flank|YY1AP1_ENST00000359205.5_5'Flank|DAP3_ENST00000496863.1_3'UTR|DAP3_ENST00000421487.2_5'UTR|YY1AP1_ENST00000404643.1_5'Flank|YY1AP1_ENST00000368330.2_5'Flank|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000295566.4_5'Flank|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000465375.1_5'UTR|YY1AP1_ENST00000355499.4_5'Flank|DAP3_ENST00000535183.1_5'UTR|YY1AP1_ENST00000438245.2_5'Flank|DAP3_ENST00000343043.3_5'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3						apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AACTAGTCCTCGACTCACGGT	0.632																																																	0																																										SO:0001623	5_prime_UTR_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.-16C>A	1.37:g.155658957C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	RNA	SNP	-	NULL	ENST00000368336.5	37	NULL	CCDS1120.1	1																																																																																			DAP3	-	-		0.632	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	C	NM_004632		155658957	+1	no_errors	ENST00000461479	ensembl	human	known	70_37	rna	SNP	0.000	A
DAZL	1618	genome.wustl.edu	37	3	16635205	16635205	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:16635205G>C	ENST00000399444.2	-	9	985	c.692C>G	c.(691-693)tCa>tGa	p.S231*	DAZL_ENST00000250863.8_Nonsense_Mutation_p.S251*	NM_001351.3	NP_001342.2	Q92904	DAZL_HUMAN	deleted in azoospermia-like	231					female meiosis II (GO:0007147)|germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|oocyte maturation (GO:0001556)|positive regulation of meiosis (GO:0045836)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|polysome (GO:0005844)	mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)		RAF1/DAZL(2)	endometrium(1)|large_intestine(3)|lung(4)|prostate(3)	11						TTCATGAACTGAACATTCATT	0.308																																																	0													65.0	62.0	63.0					3																	16635205		1850	4088	5938	SO:0001587	stop_gained	1618			BC027595	CCDS43059.1, CCDS54556.1	3p24	2013-02-12			ENSG00000092345	ENSG00000092345		"""RNA binding motif (RRM) containing"""	2685	protein-coding gene	gene with protein product		601486		DAZLA		8896558	Standard	NM_001351		Approved	DAZH, SPGYLA, MGC26406, DAZL1	uc003cbb.3	Q92904	OTTHUMG00000157050	ENST00000399444.2:c.692C>G	3.37:g.16635205G>C	ENSP00000382373:p.Ser231*	Somatic		WXS	Illumina HiSeq	Phase_IV	O15396|Q5HYB4|Q92909	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S231*	ENST00000399444.2	37	c.692	CCDS43059.1	3	.	.	.	.	.	.	.	.	.	.	G	38	7.134027	0.98085	.	.	ENSG00000092345	ENST00000250863;ENST00000399444	.	.	.	5.82	4.95	0.65309	.	0.726392	0.13227	N	0.403969	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-6.958	7.6358	0.28266	0.1469:0.1363:0.7168:0.0	.	.	.	.	X	251;231	.	ENSP00000250863:S251X	S	-	2	0	DAZL	16610209	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	1.919000	0.40015	1.482000	0.48325	0.650000	0.86243	TCA	DAZL	-	NULL		0.308	DAZL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAZL	HGNC	protein_coding	OTTHUMT00000347261.2	G	NM_001351		16635205	-1	no_errors	ENST00000399444	ensembl	human	known	70_37	nonsense	SNP	0.967	C
BRINP1	1620	genome.wustl.edu	37	9	121929662	121929662	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:121929662C>G	ENST00000265922.3	-	8	2447	c.1986G>C	c.(1984-1986)ctG>ctC	p.L662L	BRINP1_ENST00000482797.1_Intron	NM_014618.2	NP_055433.2	O60477	BRNP1_HUMAN	bone morphogenetic protein/retinoic acid inducible neural-specific 1	662					cell cycle arrest (GO:0007050)|cell death (GO:0008219)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell cycle (GO:0045786)|negative regulation of mitotic cell cycle (GO:0045930)|positive regulation of neuron differentiation (GO:0045666)	cytoplasm (GO:0005737)											CGTTGAACCTCAGGCTATACC	0.572																																																	0													182.0	168.0	173.0					9																	121929662		2203	4300	6503	SO:0001819	synonymous_variant	0			AF027734	CCDS6822.1	9q32-q33	2013-08-06	2013-08-06	2013-07-31	ENSG00000078725	ENSG00000078725			2687	protein-coding gene	gene with protein product		602865	"""deleted in bladder cancer chromosome region candidate 1"", ""deleted in bladder cancer 1"""	DBCCR1, DBC1		9175739, 10444335, 15193422	Standard	NM_014618		Approved	FAM5A	uc004bkc.2	O60477	OTTHUMG00000021020	ENST00000265922.3:c.1986G>C	9.37:g.121929662C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IPV6|Q6P1A0|Q8WU22	Silent	SNP	pfam_MACPF,smart_MACPF	p.L662	ENST00000265922.3	37	c.1986	CCDS6822.1	9																																																																																			DBC1	-	NULL		0.572	BRINP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DBC1	HGNC	protein_coding	OTTHUMT00000055440.2	C	NM_014618		121929662	-1	no_errors	ENST00000265922	ensembl	human	known	70_37	silent	SNP	1.000	G
DCHS1	8642	genome.wustl.edu	37	11	6661191	6661191	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:6661191C>A	ENST00000299441.3	-	2	2065	c.1654G>T	c.(1654-1656)Gat>Tat	p.D552Y		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	552	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D552N(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGCCACCATCTGTGGCCACC	0.547																																																	1	Substitution - Missense(1)	urinary_tract(1)											86.0	87.0	86.0					11																	6661191		2201	4296	6497	SO:0001583	missense	8642			AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.1654G>T	11.37:g.6661191C>A	ENSP00000299441:p.Asp552Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D552Y	ENST00000299441.3	37	c.1654	CCDS7771.1	11	.	.	.	.	.	.	.	.	.	.	C	17.80	3.477639	0.63849	.	.	ENSG00000166341	ENST00000299441	T	0.80909	-1.43	5.18	5.18	0.71444	Cadherin (4);Cadherin-like (1);	0.355526	0.20375	N	0.093580	D	0.94598	0.8259	H	0.99312	4.51	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96789	0.9581	10	0.87932	D	0	.	18.0581	0.89369	0.0:1.0:0.0:0.0	.	552	Q96JQ0	PCD16_HUMAN	Y	552	ENSP00000299441:D552Y	ENSP00000299441:D552Y	D	-	1	0	DCHS1	6617767	1.000000	0.71417	0.973000	0.42090	0.783000	0.44284	7.759000	0.85235	2.588000	0.87417	0.579000	0.79373	GAT	DCHS1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.547	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS1	HGNC	protein_coding	OTTHUMT00000257258.1	C	NM_003737		6661191	-1	no_errors	ENST00000299441	ensembl	human	known	70_37	missense	SNP	1.000	A
DCHS2	54798	genome.wustl.edu	37	4	155254118	155254118	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:155254118G>A	ENST00000357232.4	-	9	1744	c.1745C>T	c.(1744-1746)tCc>tTc	p.S582F	DCHS2_ENST00000339452.1_Missense_Mutation_p.S1081F|DCHS2_ENST00000507542.1_5'Flank	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2	582	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAAGTCCAGGATGGGCTGTG	0.567																																																	0													88.0	89.0	89.0					4																	155254118		2203	4300	6503	SO:0001583	missense	54798			BC140919	CCDS3785.1, CCDS47150.1	4q32.1	2014-06-04	2013-10-04	2004-09-03		ENSG00000197410		"""Cadherins / Cadherin-related"""	23111	protein-coding gene	gene with protein product	"""cadherin-related family member 7"""	612486	"""cadherin-like 27"", ""dachsous 2 (Drosophila)"""	CDH27, PCDH23		15003449	Standard	NM_017639		Approved	CDHJ, FLJ20047, PCDHJ, CDHR7	uc003inw.2	Q6V1P9		ENST00000357232.4:c.1745C>T	4.37:g.155254118G>A	ENSP00000349768:p.Ser582Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU14|E9PC11|Q4W5P9|Q6ZS61|Q9NXU8	Missense_Mutation	SNP	pfam_Cadherin,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Cadherin-like,superfamily_Homeodomain-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S582F	ENST00000357232.4	37	c.1745	CCDS3785.1	4	.	.	.	.	.	.	.	.	.	.	G	14.40	2.524163	0.44866	.	.	ENSG00000197410	ENST00000357232;ENST00000339452;ENST00000544161	T;T	0.58210	0.55;0.35	5.43	3.64	0.41730	Cadherin (2);	1.137740	0.06739	N	0.778130	T	0.61986	0.2391	L	0.49778	1.585	0.21220	N	0.999759	P;D	0.53151	0.883;0.958	P;P	0.50231	0.461;0.635	T	0.57165	-0.7858	10	0.59425	D	0.04	.	16.1119	0.81270	0.0:0.251:0.749:0.0	.	1081;582	E9PC11;Q6V1P9	.;PCD23_HUMAN	F	582;1081;1081	ENSP00000349768:S582F;ENSP00000345062:S1081F	ENSP00000345062:S1081F	S	-	2	0	DCHS2	155473568	0.003000	0.15002	0.002000	0.10522	0.035000	0.12851	1.260000	0.32968	0.715000	0.32103	0.655000	0.94253	TCC	DCHS2	-	smart_Cadherin,pfscan_Cadherin		0.567	DCHS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCHS2	HGNC	protein_coding	OTTHUMT00000365281.2	G	NM_001142552		155254118	-1	no_errors	ENST00000357232	ensembl	human	known	70_37	missense	SNP	0.011	A
DCST2	127579	genome.wustl.edu	37	1	155005216	155005216	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155005216G>A	ENST00000368424.3	-	3	526	c.468C>T	c.(466-468)gcC>gcT	p.A156A	DCST2_ENST00000295536.5_Silent_p.A156A|DCST1_ENST00000423025.2_5'Flank|DCST1_ENST00000295542.1_5'Flank|DCST1_ENST00000368419.2_5'Flank|DCST1_ENST00000392480.1_5'Flank	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	156						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			TGGTCTTCCGGGCAATAGCTT	0.517																																																	0													88.0	83.0	84.0					1																	155005216		2203	4300	6503	SO:0001819	synonymous_variant	127579			AK057496	CCDS1082.2	1q22	2008-02-05		2005-08-09	ENSG00000163354	ENSG00000163354			26562	protein-coding gene	gene with protein product							Standard	NM_144622		Approved	FLJ32934	uc001fgm.3	Q5T1A1	OTTHUMG00000037371	ENST00000368424.3:c.468C>T	1.37:g.155005216G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M2R2|Q8N810|Q96M03	Silent	SNP	pfam_DC_STAMP-like	p.A156	ENST00000368424.3	37	c.468	CCDS1082.2	1																																																																																			DCST2	-	NULL		0.517	DCST2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DCST2	HGNC	protein_coding	OTTHUMT00000090953.3	G	NM_144622		155005216	-1	no_errors	ENST00000368424	ensembl	human	known	70_37	silent	SNP	0.474	A
DCUN1D5	84259	genome.wustl.edu	37	11	102954050	102954050	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:102954050C>T	ENST00000260247.5	-	3	526	c.184G>A	c.(184-186)Gat>Aat	p.D62N	DCUN1D5_ENST00000531543.1_Intron	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	62	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		ACAACTTCATCAGGACCTTCA	0.303																																																	0													50.0	50.0	50.0					11																	102954050		2201	4294	6495	SO:0001583	missense	84259				CCDS8325.1	11q22.3	2013-06-10	2013-06-10		ENSG00000137692	ENSG00000137692			28409	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 5 (S. cerevisiae)"""			15988528	Standard	NM_032299		Approved	MGC2714, FLJ32431	uc001phm.3	Q9BTE7	OTTHUMG00000165822	ENST00000260247.5:c.184G>A	11.37:g.102954050C>T	ENSP00000260247:p.Asp62Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZTT2	Missense_Mutation	SNP	pfam_PONY_dom	p.D62N	ENST00000260247.5	37	c.184	CCDS8325.1	11	.	.	.	.	.	.	.	.	.	.	C	20.9	4.063158	0.76187	.	.	ENSG00000137692	ENST00000260247	.	.	.	5.72	5.72	0.89469	Domain of unknown function DUF298 (1);	0.113194	0.64402	D	0.000017	T	0.66056	0.2751	M	0.73430	2.235	0.80722	D	1	P	0.39847	0.691	B	0.37833	0.259	T	0.67964	-0.5534	9	0.42905	T	0.14	-18.4152	19.8908	0.96929	0.0:1.0:0.0:0.0	.	62	Q9BTE7	DCNL5_HUMAN	N	62	.	ENSP00000260247:D62N	D	-	1	0	DCUN1D5	102459260	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.483000	0.81158	2.707000	0.92482	0.650000	0.86243	GAT	DCUN1D5	-	NULL		0.303	DCUN1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D5	HGNC	protein_coding	OTTHUMT00000386382.2	C	NM_032299		102954050	-1	no_errors	ENST00000260247	ensembl	human	known	70_37	missense	SNP	1.000	T
DDX19B	11269	genome.wustl.edu	37	16	70363314	70363314	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:70363314G>A	ENST00000288071.6	+	8	972	c.727G>A	c.(727-729)Gag>Aag	p.E243K	DDX19B_ENST00000355992.3_Missense_Mutation_p.E212K|RP11-529K1.2_ENST00000562077.1_RNA|DDX19B_ENST00000568625.1_Missense_Mutation_p.E134K|DDX19B_ENST00000563206.1_Missense_Mutation_p.E248K|DDX19B_ENST00000451014.3_Missense_Mutation_p.E217K|RP11-529K1.3_ENST00000567706.1_Intron|DDX19B_ENST00000393657.2_Missense_Mutation_p.E134K|DDX19B_ENST00000563392.1_Missense_Mutation_p.E134K	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	243	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|N-terminal lobe.				mRNA export from nucleus (GO:0006406)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				TGTTCTGGATGAGGCTGATGT	0.532																																					Esophageal Squamous(26;382 757 1343 9728 15939)												0													72.0	65.0	67.0					16																	70363314		2198	4297	6495	SO:0001583	missense	11269			AJ237946	CCDS10888.1, CCDS32475.1, CCDS42187.1, CCDS58478.1	16q22.3	2012-02-23	2012-02-23	2005-07-13	ENSG00000157349	ENSG00000157349		"""DEAD-boxes"""	2742	protein-coding gene	gene with protein product		605812	"""DEAD (Asp-Glu-Ala-As) box polypeptide 19"", ""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 19 (Dbp5, yeast, homolog)"""	DDX19		10428971	Standard	NM_007242		Approved	DBP5	uc002eyo.4	Q9UMR2	OTTHUMG00000137577	ENST00000288071.6:c.727G>A	16.37:g.70363314G>A	ENSP00000288071:p.Glu243Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNE9|B4DXS6|E7EMK4|Q6FIB7|Q6IAE0|Q96KE7|Q9H0U0	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E243K	ENST00000288071.6	37	c.727	CCDS10888.1	16	.	.	.	.	.	.	.	.	.	.	G	27.3	4.818980	0.90873	.	.	ENSG00000157349	ENST00000451014;ENST00000355992;ENST00000393657;ENST00000288071	T;T;T;T	0.38077	1.16;1.16;1.16;1.16	4.82	3.85	0.44370	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.73536	0.3599	H	0.98721	4.31	0.80722	D	1	D;D;D	0.89917	0.998;0.971;1.0	D;P;D	0.81914	0.995;0.572;0.995	T	0.83062	-0.0147	10	0.87932	D	0	-12.2791	12.049	0.53495	0.0:0.0:0.8261:0.1739	.	217;212;243	E7EMK4;Q9UMR2-2;Q9UMR2	.;.;DD19B_HUMAN	K	217;212;134;243	ENSP00000392639:E217K;ENSP00000348271:E212K;ENSP00000377267:E134K;ENSP00000288071:E243K	ENSP00000288071:E243K	E	+	1	0	DDX19B	68920815	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	9.078000	0.94023	1.238000	0.43771	0.609000	0.83330	GAG	DDX19B	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.532	DDX19B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX19B	HGNC	protein_coding	OTTHUMT00000268965.3	G	NM_007242		70363314	+1	no_errors	ENST00000288071	ensembl	human	known	70_37	missense	SNP	1.000	A
DDX5	1655	genome.wustl.edu	37	17	62498149	62498149	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:62498149C>A	ENST00000225792.5	-	11	1596	c.1195G>T	c.(1195-1197)Gat>Tat	p.D399Y	DDX5_ENST00000580026.1_5'Flank|DDX5_ENST00000578804.1_Missense_Mutation_p.D399Y|MIR3064_ENST00000581130.1_RNA|DDX5_ENST00000450599.2_Missense_Mutation_p.D320Y|MIR5047_ENST00000579212.1_RNA	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	399	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cell growth (GO:0016049)|circadian rhythm (GO:0007623)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of osteoblast differentiation (GO:0045667)|regulation of skeletal muscle cell differentiation (GO:2001014)|regulation of viral genome replication (GO:0045069)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|estrogen receptor binding (GO:0030331)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA helicase activity (GO:0003724)|transcription coactivator activity (GO:0003713)			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			GAGGCCACATCTGTAGCAATC	0.378			T	ETV4	prostate																																NSCLC(22;406 813 4871 19580 40307)			Dom	yes		17	17q21	1655	DEAD (Asp-Glu-Ala-Asp) box polypeptide 5		E	0													129.0	131.0	130.0					17																	62498149		2203	4300	6503	SO:0001583	missense	1655			AF015812	CCDS11659.1	17q21	2012-07-27	2012-02-23		ENSG00000108654	ENSG00000108654		"""DEAD-boxes"""	2746	protein-coding gene	gene with protein product		180630	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 5 (RNA helicase, 68kD)"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 5"""	HLR1, G17P1		22156369, 18698352	Standard	NM_004396		Approved	p68	uc002jek.2	P17844	OTTHUMG00000178936	ENST00000225792.5:c.1195G>T	17.37:g.62498149C>A	ENSP00000225792:p.Asp399Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLW8|B5BU21|D3DU32|E7ETL9|O75681|Q53Y61	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_P68HR,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.D399Y	ENST00000225792.5	37	c.1195	CCDS11659.1	17	.	.	.	.	.	.	.	.	.	.	C	8.276	0.814387	0.16607	.	.	ENSG00000108654	ENST00000540698;ENST00000450599;ENST00000225792	.	.	.	6.08	5.1	0.69264	Helicase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.90597	0.7052	H	0.98525	4.255	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94468	0.7682	9	0.87932	D	0	-21.4811	16.7821	0.85565	0.1301:0.8699:0.0:0.0	.	320;399;399	B4DLW8;B5BUE6;P17844	.;.;DDX5_HUMAN	Y	399;329;388	.	ENSP00000225792:D388Y	D	-	1	0	DDX5	59928611	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.346000	0.79347	1.554000	0.49487	0.655000	0.94253	GAT	DDX5	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.378	DDX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX5	HGNC	protein_coding	OTTHUMT00000444030.1	C	NM_004396		62498149	-1	no_errors	ENST00000225792	ensembl	human	known	70_37	missense	SNP	1.000	A
DEFB110	245913	genome.wustl.edu	37	6	49976901	49976901	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:49976901C>G	ENST00000393660.2	-	2	138	c.139G>C	c.(139-141)Gag>Cag	p.E47Q		NM_001037728.2	NP_001032817.1	Q30KQ9	DB110_HUMAN	defensin, beta 110 locus	50					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					TAATCATACTCAACATCATCA	0.353																																																	0													185.0	173.0	177.0					6																	49976901		1891	4119	6010	SO:0001583	missense	245913			DQ012014, BC148541	CCDS43473.1, CCDS34475.1	6p12.3	2010-11-26	2010-11-26		ENSG00000203970	ENSG00000203970		"""Defensins, beta"""	18091	protein-coding gene	gene with protein product			"""defensin, beta 110"""			11854508, 16033865	Standard	NM_001037728		Approved	DEFB-10, DEFB-11, DEFB111	uc003pac.3	Q30KQ9	OTTHUMG00000160208	ENST00000393660.2:c.139G>C	6.37:g.49976901C>G	ENSP00000377270:p.Glu47Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q30KR0	Missense_Mutation	SNP	NULL	p.E47Q	ENST00000393660.2	37	c.139	CCDS43473.1	6	.	.	.	.	.	.	.	.	.	.	c	14.55	2.570200	0.45798	.	.	ENSG00000203970	ENST00000393660	T	0.73363	-0.74	4.9	4.9	0.64082	.	.	.	.	.	T	0.81950	0.4931	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.82323	-0.0514	7	.	.	.	.	13.4692	0.61273	0.0:1.0:0.0:0.0	.	47	Q30KQ9-2	.	Q	47	ENSP00000377270:E47Q	.	E	-	1	0	DEFB110	50084860	0.975000	0.34042	0.984000	0.44739	0.615000	0.37417	3.194000	0.51005	2.559000	0.86315	0.580000	0.79431	GAG	DEFB110	-	NULL		0.353	DEFB110-001	KNOWN	basic|CCDS	protein_coding	DEFB110	HGNC	protein_coding	OTTHUMT00000359663.1	C	NM_001037728		49976901	-1	no_errors	ENST00000393660	ensembl	human	known	70_37	missense	SNP	0.993	G
DENND6A	201627	genome.wustl.edu	37	3	57616535	57616535	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:57616535C>G	ENST00000311128.5	-	17	1494	c.1424G>C	c.(1423-1425)aGa>aCa	p.R475T	RP11-755B10.2_ENST00000470427.1_RNA	NM_152678.2	NP_689891.1	Q8IWF6	DEN6A_HUMAN	DENN/MADD domain containing 6A	475					positive regulation of cell-cell adhesion mediated by cadherin (GO:2000049)|positive regulation of Rab GTPase activity (GO:0032851)	cytoplasm (GO:0005737)|recycling endosome (GO:0055037)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										AAGAAACTGTCTTAATTGAGG	0.358																																																	0													77.0	76.0	76.0					3																	57616535		2203	4300	6503	SO:0001583	missense	201627			AK074156	CCDS33773.1	3p14.3	2013-10-11	2012-10-03	2012-10-03	ENSG00000174839	ENSG00000174839		"""DENN/MADD domain containing"""	26635	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member A"""	FAM116A		21330364	Standard	NM_152678		Approved	FLJ34969, AFI1A	uc003dja.3	Q8IWF6	OTTHUMG00000158639	ENST00000311128.5:c.1424G>C	3.37:g.57616535C>G	ENSP00000311401:p.Arg475Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5T4|Q8N235|Q8TEG8	Missense_Mutation	SNP	pfam_Afi1_N,pfam_Secretory_pathway_prot_Avl9,pfam_DENN_dom	p.R475T	ENST00000311128.5	37	c.1424	CCDS33773.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.90|13.90	2.376106|2.376106	0.42105|0.42105	.|.	.|.	ENSG00000174839|ENSG00000174839	ENST00000471531|ENST00000311128	.|.	.|.	.|.	5.94|5.94	5.94|5.94	0.96194|0.96194	.|.	.|0.088385	.|0.85682	.|D	.|0.000000	T|T	0.52435|0.52435	0.1734|0.1734	M|M	0.62016|0.62016	1.91|1.91	0.43091|0.43091	D|D	0.994763|0.994763	.|P	.|0.41313	.|0.745	.|B	.|0.38985	.|0.287	T|T	0.50432|0.50432	-0.8829|-0.8829	5|9	.|0.24483	.|T	.|0.36	-20.1004|-20.1004	10.6777|10.6777	0.45796|0.45796	0.0:0.8587:0.0:0.1413|0.0:0.8587:0.0:0.1413	.|.	.|475	.|Q8IWF6	.|F116A_HUMAN	N|T	46|475	.|.	.|ENSP00000311401:R475T	K|R	-|-	3|2	2|0	FAM116A|FAM116A	57591575|57591575	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.969000|0.969000	0.65631|0.65631	3.033000|3.033000	0.49743|0.49743	2.822000|2.822000	0.97130|0.97130	0.557000|0.557000	0.71058|0.71058	AAG|AGA	DENND6A	-	pfam_Afi1_N		0.358	DENND6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DENND6A	HGNC	protein_coding	OTTHUMT00000351594.1	C	NM_152678		57616535	-1	no_errors	ENST00000311128	ensembl	human	known	70_37	missense	SNP	1.000	G
DERL3	91319	genome.wustl.edu	37	22	24179859	24179859	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:24179859G>A	ENST00000318109.7	-	5	526	c.510C>T	c.(508-510)ctC>ctT	p.L170L	DERL3_ENST00000476077.1_Silent_p.L170L|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Silent_p.L170L|DERL3_ENST00000404056.1_Intron			Q96Q80	DERL3_HUMAN	derlin 3	170					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						GCAGGTCCACGAGGATGGAGT	0.652																																																	0													44.0	43.0	43.0					22																	24179859		2203	4300	6503	SO:0001819	synonymous_variant	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.510C>T	22.37:g.24179859G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Silent	SNP	pfam_DER1	p.L170	ENST00000318109.7	37	c.510	CCDS33615.1	22																																																																																			DERL3	-	pfam_DER1		0.652	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DERL3	HGNC	protein_coding	OTTHUMT00000319905.1	G	NM_198440		24179859	-1	no_errors	ENST00000318109	ensembl	human	known	70_37	silent	SNP	0.000	A
DFNB31	25861	genome.wustl.edu	37	9	117170230	117170230	+	Silent	SNP	G	G	A	rs558215535		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:117170230G>A	ENST00000362057.3	-	8	1863	c.1695C>T	c.(1693-1695)tcC>tcT	p.S565S	DFNB31_ENST00000265134.6_Silent_p.S182S|DFNB31_ENST00000374059.3_Silent_p.S214S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	565					inner ear receptor stereocilium organization (GO:0060122)|retina homeostasis (GO:0001895)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin filament (GO:0005884)|cilium (GO:0005929)|cytoplasm (GO:0005737)|stereocilia ankle link complex (GO:0002142)|stereocilium (GO:0032420)		p.S565S(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCCTTACCACGGACACATCTG	0.572																																																	1	Substitution - coding silent(1)	endometrium(1)																																								SO:0001819	synonymous_variant	25861			AK056190	CCDS6806.1, CCDS43870.1	9q32	2013-06-19			ENSG00000095397	ENSG00000095397			16361	protein-coding gene	gene with protein product	"""whirlin"""	607928				12833159, 17171570	Standard	NM_015404		Approved	CIP98, WHRN, USH2D, PDZD7B	uc004biz.4	Q9P202	OTTHUMG00000020539	ENST00000362057.3:c.1695C>T	9.37:g.117170230G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKU1|A5PKZ9|Q5TAU9|Q5TAV0|Q5TAV1|Q5TAV2|Q96MZ9|Q9H9F4|Q9UFZ3	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.S565	ENST00000362057.3	37	c.1695	CCDS6806.1	9																																																																																			DFNB31	-	NULL		0.572	DFNB31-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DFNB31	HGNC	protein_coding	OTTHUMT00000053776.2	G	NM_015404		117170230	-1	no_errors	ENST00000362057	ensembl	human	known	70_37	silent	SNP	0.989	A
DGAT1	8694	genome.wustl.edu	37	8	145540701	145540701	+	Missense_Mutation	SNP	G	G	A	rs573410614		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145540701G>A	ENST00000332324.4	-	15	1505	c.1232C>T	c.(1231-1233)tCg>tTg	p.S411L	GS1-393G12.12_ENST00000525023.1_RNA|DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	411					acylglycerol acyl-chain remodeling (GO:0036155)|cellular lipid metabolic process (GO:0044255)|diacylglycerol metabolic process (GO:0046339)|glycerophospholipid biosynthetic process (GO:0046474)|lipid storage (GO:0019915)|long-chain fatty-acyl-CoA metabolic process (GO:0035336)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	diacylglycerol O-acyltransferase activity (GO:0004144)|retinol O-fatty-acyltransferase activity (GO:0050252)|transferase activity, transferring acyl groups (GO:0016746)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			GAAGAAGGCCGAGGCCAGGAA	0.637																																																	0													58.0	57.0	57.0					8																	145540701		2203	4296	6499	SO:0001583	missense	8694			AF059202	CCDS6420.1	8q24.3	2014-05-06	2010-06-24	2001-11-09	ENSG00000185000	ENSG00000185000	2.3.1.20		2843	protein-coding gene	gene with protein product		604900	"""diacylglycerol O-acyltransferase homolog 1 (mouse)"""			9756920	Standard	NM_012079		Approved	ARGP1, DGAT	uc003zbv.3	O75907	OTTHUMG00000174606	ENST00000332324.4:c.1232C>T	8.37:g.145540701G>A	ENSP00000332258:p.Ser411Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWQ2|D3DWL6|Q96BB8	Missense_Mutation	SNP	pfam_MBOAT_fam,superfamily_PEP-util_enz_mobile_dom	p.S411L	ENST00000332324.4	37	c.1232	CCDS6420.1	8	.	.	.	.	.	.	.	.	.	.	G	29.9	5.045626	0.93685	.	.	ENSG00000185000	ENST00000332324	T	0.79033	-1.23	4.55	4.55	0.56014	.	0.000000	0.85682	D	0.000000	D	0.91181	0.7222	H	0.95780	3.72	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93621	0.6948	10	0.87932	D	0	-17.1684	14.8306	0.70146	0.0:0.0:1.0:0.0	.	411	O75907	DGAT1_HUMAN	L	411	ENSP00000332258:S411L	ENSP00000332258:S411L	S	-	2	0	DGAT1	145511509	1.000000	0.71417	0.919000	0.36401	0.976000	0.68499	8.887000	0.92456	2.368000	0.80403	0.561000	0.74099	TCG	DGAT1	-	pfam_MBOAT_fam		0.637	DGAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGAT1	HGNC	protein_coding	OTTHUMT00000382059.3	G	NM_012079		145540701	-1	no_errors	ENST00000332324	ensembl	human	known	70_37	missense	SNP	0.967	A
DGCR5	26220	genome.wustl.edu	37	22	18981843	18981843	+	RNA	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:18981843G>T	ENST00000438934.1	+	0	5194				DGCR5_ENST00000537283.1_RNA|DGCR5_ENST00000440005.2_RNA					DiGeorge syndrome critical region gene 5 (non-protein coding)																		GACATGGGCGGAGGGAACCGT	0.637																																																	0																																												26220			X91348		22q11	2012-10-16	2008-08-13		ENSG00000237517	ENSG00000237517		"""Long non-coding RNAs"""	16757	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 37"", ""long intergenic non-protein coding RNA 37"""					8659529	Standard	NR_002733		Approved	NCRNA00037, LINC00037	uc021wku.1		OTTHUMG00000149977		22.37:g.18981843G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000438934.1	37	NULL		22																																																																																			DGCR5	-	-		0.637	DGCR5-002	KNOWN	basic	antisense	DGCR5	HGNC	antisense	OTTHUMT00000314912.1	G	NR_002733		18981843	+1	no_errors	ENST00000438934	ensembl	human	known	70_37	rna	SNP	0.010	T
DGCR8	54487	genome.wustl.edu	37	22	20093767	20093767	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:20093767C>T	ENST00000351989.3	+	10	2285	c.1856C>T	c.(1855-1857)tCt>tTt	p.S619F	DGCR8_ENST00000407755.1_Missense_Mutation_p.S586F|DGCR8_ENST00000383024.2_Missense_Mutation_p.S586F	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	619	Necessary for heme-binding and pri-miRNA processing.|Necessary for interaction with DROSHA.				gene expression (GO:0010467)|primary miRNA processing (GO:0031053)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGCTGTTGTCTCCATATCAG	0.557																																																	0													64.0	61.0	62.0					22																	20093767		2203	4300	6503	SO:0001583	missense	54487			AF165527, AB050770	CCDS13773.1, CCDS54501.1	22q11.2	2013-05-02	2013-05-02		ENSG00000128191	ENSG00000128191			2847	protein-coding gene	gene with protein product		609030	"""chromosome 22 open reading frame 12"", ""DiGeorge syndrome critical region gene 8"""	C22orf12		21454614	Standard	NM_001190326		Approved	DGCRK6, Gy1, pasha	uc002zri.3	Q8WYQ5	OTTHUMG00000150503	ENST00000351989.3:c.1856C>T	22.37:g.20093767C>T	ENSP00000263209:p.Ser619Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8G1|Q6DCB2|Q6MZE9|Q6Y2L0|Q96G39|Q96GP8|Q9H6L8|Q9H6T7|Q9NRW2	Missense_Mutation	SNP	pfam_Ds-RNA-bd,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Ds-RNA-bd,pfscan_WW_Rsp5_WWP,pfscan_Ds-RNA-bd	p.S619F	ENST00000351989.3	37	c.1856	CCDS13773.1	22	.	.	.	.	.	.	.	.	.	.	C	28.4	4.914201	0.92178	.	.	ENSG00000128191	ENST00000351989;ENST00000383024;ENST00000407755	T;T;T	0.36878	1.23;1.34;1.34	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.58552	0.2130	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.85130	0.997;0.985	T	0.61922	-0.6963	10	0.87932	D	0	-12.455	16.9668	0.86288	0.0:1.0:0.0:0.0	.	586;619	Q8WYQ5-3;Q8WYQ5	.;DGCR8_HUMAN	F	619;586;586	ENSP00000263209:S619F;ENSP00000372488:S586F;ENSP00000384726:S586F	ENSP00000263209:S619F	S	+	2	0	DGCR8	18473767	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	7.044000	0.76578	2.532000	0.85374	0.467000	0.42956	TCT	DGCR8	-	NULL		0.557	DGCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DGCR8	HGNC	protein_coding	OTTHUMT00000318654.1	C			20093767	+1	no_errors	ENST00000351989	ensembl	human	known	70_37	missense	SNP	1.000	T
DGKK	139189	genome.wustl.edu	37	X	50213452	50213452	+	RNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:50213452C>T	ENST00000376025.2	-	0	285							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GTGTACAGTTCTGTGGCTGAT	0.642																																																	0													71.0	82.0	79.0					X																	50213452		1912	4110	6022			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50213452C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.642	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	C	NM_001013742		50213452	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.756	T
DHH	50846	genome.wustl.edu	37	12	49483753	49483753	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:49483753C>G	ENST00000266991.2	-	3	1386	c.1080G>C	c.(1078-1080)ttG>ttC	p.L360F	RP11-386G11.8_ENST00000548030.1_RNA|RP11-386G11.8_ENST00000553174.1_RNA	NM_021044.2	NP_066382.1	O43323	DHH_HUMAN	desert hedgehog	360					cell-cell signaling (GO:0007267)|Leydig cell differentiation (GO:0033327)|male sex determination (GO:0030238)|myelination (GO:0042552)|regulation of steroid biosynthetic process (GO:0050810)|response to estradiol (GO:0032355)|spermatid development (GO:0007286)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|peptidase activity (GO:0008233)|zinc ion binding (GO:0008270)			breast(1)|large_intestine(3)|lung(4)	8						GCAGCAGTCTCAAGGGGGCAA	0.677																																																	0													9.0	11.0	10.0					12																	49483753		2194	4284	6478	SO:0001583	missense	50846			AB010994	CCDS8779.1	12q13.1	2010-06-24	2010-06-24			ENSG00000139549			2865	protein-coding gene	gene with protein product		605423	"""desert hedgehog (Drosophila) homolog"""			10773676, 10640830	Standard	NM_021044		Approved	HHG-3, MGC35145	uc001rtf.3	O43323	OTTHUMG00000170408	ENST00000266991.2:c.1080G>C	12.37:g.49483753C>G	ENSP00000266991:p.Leu360Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15794	Missense_Mutation	SNP	pfam_Hedgehog_signaling_dom,pfam_Hint_dom,superfamily_Hedgehog_sig/DD-Pept_Zn-bd_dom,smart_Hint_dom_N,smart_Hint_dom_C,pirsf_Hedgehog,prints_Hedgehog	p.L360F	ENST00000266991.2	37	c.1080	CCDS8779.1	12	.	.	.	.	.	.	.	.	.	.	c	13.71	2.316993	0.40996	.	.	ENSG00000139549	ENST00000266991	D	0.99369	-5.78	4.77	4.77	0.60923	Peptidase C46, hedgehog protein, hint region (1);	0.260691	0.31323	N	0.007854	D	0.97346	0.9132	L	0.43757	1.38	0.47819	D	0.999524	B	0.22146	0.065	B	0.20384	0.029	D	0.95744	0.8786	10	0.21540	T	0.41	-15.1317	12.2154	0.54404	0.1706:0.8294:0.0:0.0	.	360	O43323	DHH_HUMAN	F	360	ENSP00000266991:L360F	ENSP00000266991:L360F	L	-	3	2	DHH	47770020	0.993000	0.37304	0.999000	0.59377	0.389000	0.30415	0.412000	0.21131	2.654000	0.90174	0.556000	0.70494	TTG	DHH	-	pfam_Hint_dom,pirsf_Hedgehog,prints_Hedgehog		0.677	DHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHH	HGNC	protein_coding	OTTHUMT00000408973.1	C	NM_021044		49483753	-1	no_errors	ENST00000266991	ensembl	human	known	70_37	missense	SNP	1.000	G
DHRS4	10901	genome.wustl.edu	37	14	24422973	24422973	+	5'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:24422973G>A	ENST00000313250.5	+	0	179				DHRS4_ENST00000559632.1_5'Flank|DHRS4-AS1_ENST00000556379.1_RNA|DHRS4_ENST00000397075.3_5'Flank|DHRS4_ENST00000543741.2_5'Flank|DHRS4_ENST00000397073.2_5'Flank|DHRS4_ENST00000558581.1_5'Flank|DHRS4_ENST00000421831.1_5'Flank|DHRS4_ENST00000382761.3_5'Flank|DHRS4_ENST00000397074.3_5'Flank|DHRS4_ENST00000558263.1_5'UTR|DHRS4_ENST00000308178.8_5'Flank	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4						alcohol metabolic process (GO:0006066)|cellular ketone metabolic process (GO:0042180)|oxidation-reduction process (GO:0055114)|protein tetramerization (GO:0051262)|steroid metabolic process (GO:0008202)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	3-keto sterol reductase activity (GO:0000253)|alcohol dehydrogenase [NAD(P)+] activity (GO:0018455)|carbonyl reductase (NADPH) activity (GO:0004090)|oxidoreductase activity, acting on NAD(P)H, quinone or similar compound as acceptor (GO:0016655)|receptor binding (GO:0005102)			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	GGGAAGAGTGGAACCCATACT	0.682																																																	0													42.0	47.0	46.0					14																	24422973		2203	4300	6503	SO:0001623	5_prime_UTR_variant	55449			AF044127	CCDS9605.1, CCDS61408.1, CCDS61409.1, CCDS61410.1, CCDS61411.1, CCDS61412.1	14q11.2	2013-06-14			ENSG00000157326	ENSG00000157326	1.1.1.184	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	16985	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 2"""	611596				10333503, 19027726	Standard	NM_021004		Approved	SCAD-SRL, SDR-SRL, humNRDR, FLJ11008, SDR25C2	uc001wla.3	Q9BTZ2	OTTHUMG00000028777	ENST00000313250.5:c.-25G>A	14.37:g.24422973G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB10|B7WNS9|D3YTB8|E2QRL8|O95162|Q20CR0|Q2LC19|Q2LE81|Q58IU4|Q6E0Y1|Q6UWU3|Q71UQ6|Q8TD03|Q9H3N5|Q9NV08	RNA	SNP	-	NULL	ENST00000313250.5	37	NULL	CCDS9605.1	14																																																																																			DHRS4-AS1	-	-		0.682	DHRS4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DHRS4-AS1	HGNC	protein_coding	OTTHUMT00000071857.3	G			24422973	-1	no_errors	ENST00000553454	ensembl	human	putative	70_37	rna	SNP	0.000	A
DHTKD1	55526	genome.wustl.edu	37	10	12133641	12133641	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:12133641C>G	ENST00000263035.4	+	6	1179	c.1117C>G	c.(1117-1119)Cca>Gca	p.P373A	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	373					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TTACACCACTCCAGCTGAAAG	0.443																																																	0													101.0	94.0	96.0					10																	12133641		2203	4300	6503	SO:0001583	missense	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.1117C>G	10.37:g.12133641C>G	ENSP00000263035:p.Pro373Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.P373A	ENST00000263035.4	37	c.1117	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	C	13.90	2.374701	0.42105	.	.	ENSG00000181192	ENST00000263035;ENST00000415935	T;D	0.95447	2.16;-3.71	5.7	5.7	0.88788	Dehydrogenase, E1 component (1);	0.000000	0.85682	D	0.000000	D	0.96463	0.8846	L	0.46885	1.475	0.80722	D	1	D	0.63880	0.993	D	0.67103	0.949	D	0.94576	0.7775	10	0.21540	T	0.41	-9.3528	19.8385	0.96670	0.0:1.0:0.0:0.0	.	373	Q96HY7	DHTK1_HUMAN	A	373;71	ENSP00000263035:P373A;ENSP00000400625:P71A	ENSP00000263035:P373A	P	+	1	0	DHTKD1	12173647	1.000000	0.71417	0.859000	0.33776	0.739000	0.42172	7.764000	0.85297	2.701000	0.92244	0.655000	0.94253	CCA	DHTKD1	-	pfam_DH_E1,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.443	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	C	NM_018706		12133641	+1	no_errors	ENST00000263035	ensembl	human	known	70_37	missense	SNP	1.000	G
DHTKD1	55526	genome.wustl.edu	37	10	12159690	12159690	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:12159690C>A	ENST00000263035.4	+	14	2400	c.2338C>A	c.(2338-2340)Caa>Aaa	p.Q780K	U6_ENST00000606801.1_RNA	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	780					cell death (GO:0008219)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hematopoietic progenitor cell differentiation (GO:0002244)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)	oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			GTCAACTCTTCAAGAAATGGC	0.458																																																	0													190.0	164.0	173.0					10																	12159690		2203	4300	6503	SO:0001583	missense	55526			BC002477	CCDS7087.1	10p14	2003-11-24			ENSG00000181192	ENSG00000181192			23537	protein-coding gene	gene with protein product		614984				10997877	Standard	NM_018706		Approved	KIAA1630, MGC3090, DKFZP762M115	uc001ild.5	Q96HY7	OTTHUMG00000017677	ENST00000263035.4:c.2338C>A	10.37:g.12159690C>A	ENSP00000263035:p.Gln780Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CU5|Q9BUM8|Q9HCE2	Missense_Mutation	SNP	pfam_Transketolase-like_Pyr-bd,pfam_DH_E1,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.Q780K	ENST00000263035.4	37	c.2338	CCDS7087.1	10	.	.	.	.	.	.	.	.	.	.	C	6.236	0.411709	0.11812	.	.	ENSG00000181192	ENST00000263035	T	0.04360	3.64	5.42	2.38	0.29361	.	0.556803	0.19381	N	0.115652	T	0.03871	0.0109	N	0.08118	0	0.22354	N	0.99918	B	0.02656	0.0	B	0.06405	0.002	T	0.37934	-0.9684	10	0.52906	T	0.07	-0.1831	18.7083	0.91646	0.0:0.3809:0.6191:0.0	.	780	Q96HY7	DHTK1_HUMAN	K	780	ENSP00000263035:Q780K	ENSP00000263035:Q780K	Q	+	1	0	DHTKD1	12199696	0.998000	0.40836	0.990000	0.47175	0.743000	0.42351	0.514000	0.22786	0.192000	0.20272	0.655000	0.94253	CAA	DHTKD1	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.458	DHTKD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHTKD1	HGNC	protein_coding	OTTHUMT00000046777.1	C	NM_018706		12159690	+1	no_errors	ENST00000263035	ensembl	human	known	70_37	missense	SNP	0.996	A
DHX37	57647	genome.wustl.edu	37	12	125438697	125438697	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:125438697C>A	ENST00000308736.2	-	19	2612	c.2514G>T	c.(2512-2514)caG>caT	p.Q838H	DHX37_ENST00000544745.1_Missense_Mutation_p.Q625H	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	838							ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		TCCTCTTCATCTGGGCCACCC	0.657																																																	0													32.0	38.0	36.0					12																	125438697		2203	4300	6503	SO:0001583	missense	57647			AB040950	CCDS9261.1	12q24.31	2004-03-25	2003-06-13	2003-06-20		ENSG00000150990		"""DEAH-boxes"""	17210	protein-coding gene	gene with protein product			"""DEAD/DEAH box helicase DDX37"""	DDX37		10819331	Standard	NM_032656		Approved	KIAA1517, MGC4322, MGC2695	uc001ugy.3	Q8IY37		ENST00000308736.2:c.2514G>T	12.37:g.125438697C>A	ENSP00000311135:p.Gln838His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUI7|Q9P211	Missense_Mutation	SNP	pfam_DUF1605,pfam_Helicase-assoc_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_T2SS_protein-E,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.Q838H	ENST00000308736.2	37	c.2514	CCDS9261.1	12	.	.	.	.	.	.	.	.	.	.	C	14.23	2.473310	0.43942	.	.	ENSG00000150990	ENST00000308736;ENST00000544745	T;T	0.02709	4.19;4.19	5.33	3.44	0.39384	Helicase-associated domain (2);	0.051439	0.85682	N	0.000000	T	0.06142	0.0159	M	0.74647	2.275	0.46396	D	0.999026	B	0.30563	0.285	B	0.34242	0.178	T	0.13710	-1.0499	10	0.42905	T	0.14	0.0745	12.0894	0.53717	0.1365:0.7323:0.1312:0.0	.	838	Q8IY37	DHX37_HUMAN	H	838;625	ENSP00000311135:Q838H;ENSP00000439009:Q625H	ENSP00000311135:Q838H	Q	-	3	2	DHX37	124004650	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	1.283000	0.33237	0.576000	0.29452	0.455000	0.32223	CAG	DHX37	-	pfam_Helicase-assoc_dom,smart_Helicase-assoc_dom		0.657	DHX37-201	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX37	HGNC	protein_coding		C	NM_032656		125438697	-1	no_errors	ENST00000308736	ensembl	human	known	70_37	missense	SNP	1.000	A
DHX8	1659	genome.wustl.edu	37	17	41584391	41584391	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41584391C>G	ENST00000262415.3	+	13	1821	c.1749C>G	c.(1747-1749)atC>atG	p.I583M	DHX8_ENST00000540306.1_Missense_Mutation_p.I583M	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	583	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACAATCAGATCCTGATTGTCA	0.428																																					NSCLC(56;1548 1661 49258 49987)												0													63.0	59.0	60.0					17																	41584391		2203	4300	6503	SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.1749C>G	17.37:g.41584391C>G	ENSP00000262415:p.Ile583Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.I583M	ENST00000262415.3	37	c.1749	CCDS11464.1	17	.	.	.	.	.	.	.	.	.	.	C	16.56	3.158593	0.57368	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	T;T	0.14766	2.48;2.48	5.45	3.42	0.39159	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.39091	0.1065	M	0.91818	3.245	0.58432	D	0.999997	D;P	0.67145	0.996;0.815	D;P	0.65684	0.937;0.792	T	0.37798	-0.9690	10	0.72032	D	0.01	.	7.9519	0.30019	0.0:0.6843:0.0:0.3157	.	583;583	F5H658;Q14562	.;DHX8_HUMAN	M	583	ENSP00000437886:I583M;ENSP00000262415:I583M	ENSP00000262415:I583M	I	+	3	3	DHX8	38939917	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.997000	0.29731	1.294000	0.44707	0.655000	0.94253	ATC	DHX8	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.428	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	C			41584391	+1	no_errors	ENST00000262415	ensembl	human	known	70_37	missense	SNP	1.000	G
DHX8	1659	genome.wustl.edu	37	17	41585216	41585217	+	Missense_Mutation	DNP	TC	TC	CT			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T|C	T|C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41585216_41585217TC>CT	ENST00000262415.3	+	15	2221_2222	c.2149_2150TC>CT	c.(2149-2151)TCa>CTa	p.S717L	DHX8_ENST00000540306.1_Missense_Mutation_p.S717L	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	717	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GATTGTCACCTCAGCCACCTTG	0.426																																					NSCLC(56;1548 1661 49258 49987)												0																																										SO:0001583	missense	1659			D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		Exception_encountered	17.37:g.41585216_41585217delinsCT	ENSP00000262415:p.Ser717Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_NA-bd_OB-fold-like,smart_RNA-binding_domain_S1,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Rbsml_prot_S1_RNA-bd_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S717P|p.S717L	ENST00000262415.3	37	c.2149|c.2150	CCDS11464.1	17																																																																																			DHX8	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd		0.426	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX8	HGNC	protein_coding	OTTHUMT00000453485.1	T|C			41585216|41585217	+1	no_errors	ENST00000262415	ensembl	human	known	70_37	missense	SNP	0.997|1.000	C|T
DIDO1	11083	genome.wustl.edu	37	20	61525016	61525016	+	Splice_Site	SNP	A	A	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:61525016A>T	ENST00000266070.4	-	12	3427		c.e12+1		DIDO1_ENST00000395340.1_Splice_Site|DIDO1_ENST00000395343.1_Splice_Site|DIDO1_ENST00000395335.2_Splice_Site	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1						apoptotic signaling pathway (GO:0097190)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGAAGTACGCACCTGATATTT	0.418																																					Melanoma(25;381 482 3385 5362 7955 17159 17174 40604 47095)												0													74.0	64.0	67.0					20																	61525016		2203	4300	6503	SO:0001630	splice_region_variant	11083			AB002331	CCDS13508.2, CCDS13509.1, CCDS33506.1	20q13.33	2013-01-28	2005-11-11	2005-11-11	ENSG00000101191	ENSG00000101191		"""Zinc fingers, PHD-type"""	2680	protein-coding gene	gene with protein product		604140	"""chromosome 20 open reading frame 158"", ""death associated transcription factor 1"""	C20orf158, DATF1		10393935	Standard	NM_033081		Approved	DIO1, dJ885L7.8, FLJ11265, KIAA0333, DIO-1, BYE1	uc002ydr.2	Q9BTC0	OTTHUMG00000032945	ENST00000266070.4:c.3101+1T>A	20.37:g.61525016A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY65|B9EH82|E1P5I1|O15043|Q3ZTL7|Q3ZTL8|Q4VXS1|Q4VXS2|Q4VXV8|Q4VXV9|Q96D72|Q9BQW0|Q9BW03|Q9H4G6|Q9H4G7|Q9NTU8|Q9NUM8|Q9UFB6	Splice_Site	SNP	-	e10+2	ENST00000266070.4	37	c.3101+2	CCDS33506.1	20	.	.	.	.	.	.	.	.	.	.	A	11.16	1.557770	0.27827	.	.	ENSG00000101191	ENST00000266070;ENST00000395343;ENST00000395340;ENST00000395335	.	.	.	5.4	5.4	0.78164	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.4335	0.75125	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIDO1	60995461	0.998000	0.40836	0.900000	0.35374	0.010000	0.07245	3.984000	0.56923	2.066000	0.61787	0.533000	0.62120	.	DIDO1	-	-		0.418	DIDO1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIDO1	HGNC	protein_coding	OTTHUMT00000080091.2	A	NM_080796	Intron	61525016	-1	no_errors	ENST00000266070	ensembl	human	known	70_37	splice_site	SNP	0.988	T
DIP2A	23181	genome.wustl.edu	37	21	47969760	47969760	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:47969760G>T	ENST00000417564.2	+	22	2620	c.2599G>T	c.(2599-2601)Gag>Tag	p.E867*	DIP2A_ENST00000318711.7_Nonsense_Mutation_p.E868*|DIP2A_ENST00000427143.2_Nonsense_Mutation_p.E803*|DIP2A_ENST00000400274.1_Nonsense_Mutation_p.E863*|DIP2A_ENST00000457905.3_Nonsense_Mutation_p.E867*			Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	867					multicellular organismal development (GO:0007275)|negative regulation of gene expression (GO:0010629)|regulation of apoptotic process (GO:0042981)	cell surface (GO:0009986)|nucleus (GO:0005634)	catalytic activity (GO:0003824)			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGATGCCTCGGAGGAGGACAG	0.637																																																	0													72.0	80.0	77.0					21																	47969760		2202	4300	6502	SO:0001587	stop_gained	23181			AF490768	CCDS46655.1, CCDS46656.1, CCDS46657.1, CCDS54490.1, CCDS54491.1	21q22.3	2010-08-20	2006-01-13	2006-01-13	ENSG00000160305	ENSG00000160305			17217	protein-coding gene	gene with protein product		607711	"""chromosome 21 open reading frame 106"""	C21orf106			Standard	NM_015151		Approved	Dip2, KIAA0184	uc002zjo.2	Q14689	OTTHUMG00000090717	ENST00000417564.2:c.2599G>T	21.37:g.47969760G>T	ENSP00000392066:p.Glu867*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6P4T3|B4E0F0|E7EMA5|Q8IVA3|Q8N4S2|Q8TD89|Q96ML9	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_DMAP1-bd	p.E868*	ENST00000417564.2	37	c.2602	CCDS46655.1	21	.	.	.	.	.	.	.	.	.	.	G	40	8.517594	0.98845	.	.	ENSG00000160305	ENST00000400274;ENST00000427143;ENST00000318711;ENST00000457905;ENST00000417564	.	.	.	4.77	4.77	0.60923	.	0.124952	0.52532	D	0.000073	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27082	T	0.32	-29.3403	17.1613	0.86804	0.0:0.0:1.0:0.0	.	.	.	.	X	863;803;868;867;867	.	ENSP00000323633:E868X	E	+	1	0	DIP2A	46794188	1.000000	0.71417	0.938000	0.37757	0.977000	0.68977	9.650000	0.98490	2.355000	0.79922	0.655000	0.94253	GAG	DIP2A	-	NULL		0.637	DIP2A-012	KNOWN	basic|CCDS	protein_coding	DIP2A	HGNC	protein_coding	OTTHUMT00000376736.1	G	NM_015151		47969760	+1	no_errors	ENST00000318711	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DIRAS3	9077	genome.wustl.edu	37	1	68512439	68512439	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:68512439G>A	ENST00000370981.1	-	4	1178	c.542C>T	c.(541-543)tCa>tTa	p.S181L	GNG12-AS1_ENST00000420587.1_RNA|GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.S181L			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	181					regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of gene expression by genetic imprinting (GO:0006349)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGTCTTGGCTGAAATCTCCAT	0.547																																																	0													124.0	122.0	122.0					1																	68512439		2203	4300	6503	SO:0001583	missense	9077			U96750	CCDS641.1	1p31	2014-05-09		2005-01-27	ENSG00000162595	ENSG00000162595			687	protein-coding gene	gene with protein product		605193	"""ras homolog gene family, member I"""	ARHI		9874798	Standard	XM_006711027		Approved	NOEY2	uc001ded.3	O95661	OTTHUMG00000009544	ENST00000370981.1:c.542C>T	1.37:g.68512439G>A	ENSP00000360020:p.Ser181Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMP3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S181L	ENST00000370981.1	37	c.542	CCDS641.1	1	.	.	.	.	.	.	.	.	.	.	G	18.35	3.605498	0.66445	.	.	ENSG00000162595	ENST00000370981;ENST00000395201	D;D	0.86627	-2.15;-2.15	4.66	3.75	0.43078	Small GTP-binding protein domain (1);	.	.	.	.	D	0.95592	0.8567	H	0.99211	4.47	0.48632	D	0.999687	D	0.89917	1.0	D	0.91635	0.999	D	0.96490	0.9363	9	0.72032	D	0.01	.	12.7581	0.57347	0.0811:0.0:0.9189:0.0	.	181	O95661	DIRA3_HUMAN	L	181	ENSP00000360020:S181L;ENSP00000378627:S181L	ENSP00000360020:S181L	S	-	2	0	DIRAS3	68285027	1.000000	0.71417	0.219000	0.23793	0.183000	0.23260	8.927000	0.92846	1.104000	0.41587	0.650000	0.86243	TCA	DIRAS3	-	pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.547	DIRAS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRAS3	HGNC	protein_coding	OTTHUMT00000026354.2	G	NM_004675		68512439	-1	no_errors	ENST00000370981	ensembl	human	known	70_37	missense	SNP	0.998	A
DLEC1	9940	genome.wustl.edu	37	3	38159078	38159078	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38159078C>T	ENST00000308059.6	+	32	4482	c.4461C>T	c.(4459-4461)ctC>ctT	p.L1487L	DLEC1_ENST00000452631.2_Silent_p.L1490L|DLEC1_ENST00000346219.3_Silent_p.L1487L					deleted in lung and esophageal cancer 1											NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CCAGTGACCTCATTCCCGAGC	0.617											OREG0015476	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													65.0	73.0	70.0					3																	38159078		2052	4190	6242	SO:0001819	synonymous_variant	9940			AB020522	CCDS2672.2	3p21.3	2014-07-31			ENSG00000008226	ENSG00000008226			2899	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 81"""	604050				10213508	Standard	XM_005265630		Approved	DLC1, CFAP81	uc003chp.1	Q9Y238	OTTHUMG00000131085	ENST00000308059.6:c.4461C>T	3.37:g.38159078C>T		Somatic	876	WXS	Illumina HiSeq	Phase_IV		Silent	SNP	superfamily_PapD-like	p.L1487	ENST00000308059.6	37	c.4461	CCDS2672.2	3																																																																																			DLEC1	-	NULL		0.617	DLEC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DLEC1	HGNC	protein_coding	OTTHUMT00000253745.3	C	NM_007337		38159078	+1	no_errors	ENST00000346219	ensembl	human	known	70_37	silent	SNP	0.998	T
DLG4	1742	genome.wustl.edu	37	17	7097021	7097021	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:7097021G>C	ENST00000399506.2	-	15	1747	c.1556C>G	c.(1555-1557)tCg>tGg	p.S519W	DLG4_ENST00000399510.2_Missense_Mutation_p.S562W|DLG4_ENST00000302955.6_Missense_Mutation_p.S516W			P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	519					alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|axon guidance (GO:0007411)|dendritic spine morphogenesis (GO:0060997)|establishment of protein localization (GO:0045184)|learning (GO:0007612)|locomotory exploration behavior (GO:0035641)|negative regulation of receptor internalization (GO:0002091)|nervous system development (GO:0007399)|neuromuscular process controlling balance (GO:0050885)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synaptic transmission (GO:0050806)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|receptor localization to synapse (GO:0097120)|regulation of grooming behavior (GO:2000821)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|signal transduction (GO:0007165)|social behavior (GO:0035176)|synaptic transmission (GO:0007268)|synaptic vesicle maturation (GO:0016188)|vocalization behavior (GO:0071625)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite cytoplasm (GO:0032839)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|juxtaparanode region of axon (GO:0044224)|neuron projection terminus (GO:0044306)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	acetylcholine receptor binding (GO:0033130)|beta-1 adrenergic receptor binding (GO:0031697)|D1 dopamine receptor binding (GO:0031748)|ionotropic glutamate receptor binding (GO:0035255)|P2Y1 nucleotide receptor binding (GO:0031812)|PDZ domain binding (GO:0030165)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein phosphatase binding (GO:0019903)|scaffold protein binding (GO:0097110)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18					Guanidine(DB00536)	GCTCAGAACCGAGTCTTCTCG	0.617																																																	0													72.0	82.0	79.0					17																	7097021		2019	4184	6203	SO:0001583	missense	1742			U83192	CCDS45599.1, CCDS45600.1	17p13.1	2008-12-15	2001-12-04		ENSG00000132535	ENSG00000132535			2903	protein-coding gene	gene with protein product		602887				9286702	Standard	NM_001128827		Approved	PSD-95, PSD95, SAP90, SAP-90	uc010cly.3	P78352	OTTHUMG00000134327	ENST00000399506.2:c.1556C>G	17.37:g.7097021G>C	ENSP00000382425:p.Ser519Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1S1|G5E939|Q92941|Q9UKK8	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_PDZ,pfam_PDZ_assoc,pfam_MAGUK_PEST_N,pfam_SH3_domain,pfam_SH3_2,pfam_L27_1,superfamily_SH3_domain,superfamily_PDZ,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pirsf_M-assoc_guanylate_kinase,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S562W	ENST00000399506.2	37	c.1685		17	.	.	.	.	.	.	.	.	.	.	G	15.03	2.711526	0.48517	.	.	ENSG00000132535	ENST00000399506;ENST00000302955;ENST00000399510;ENST00000293813;ENST00000380912;ENST00000539674	T;T;T	0.13657	2.57;2.58;2.57	5.2	5.2	0.72013	Src homology-3 domain (1);	.	.	.	.	T	0.15392	0.0371	N	0.14661	0.345	0.53688	D	0.999979	B;P;P;P	0.52061	0.001;0.701;0.68;0.95	B;P;P;P	0.52646	0.005;0.705;0.597;0.637	T	0.04386	-1.0955	9	0.37606	T	0.19	.	16.2856	0.82720	0.0:0.0:1.0:0.0	.	559;519;516;562	B9EGL1;P78352;G5E939;P78352-2	.;DLG4_HUMAN;.;.	W	519;516;562;562;459;562	ENSP00000382425:S519W;ENSP00000307471:S516W;ENSP00000382428:S562W	ENSP00000293813:S562W	S	-	2	0	DLG4	7037745	0.995000	0.38212	0.971000	0.41717	0.996000	0.88848	4.763000	0.62257	2.722000	0.93159	0.655000	0.94253	TCG	DLG4	-	superfamily_SH3_domain,pirsf_M-assoc_guanylate_kinase		0.617	DLG4-002	KNOWN	non_canonical_TEC|not_organism_supported|basic|appris_candidate_longest	protein_coding	DLG4	HGNC	protein_coding	OTTHUMT00000259419.2	G	NM_001365		7097021	-1	no_errors	ENST00000293813	ensembl	human	known	70_37	missense	SNP	0.981	C
DLG5	9231	genome.wustl.edu	37	10	79572015	79572015	+	Silent	SNP	G	G	A	rs568757709		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:79572015G>A	ENST00000372391.2	-	21	4151	c.4146C>T	c.(4144-4146)atC>atT	p.I1382I	DLG5_ENST00000372388.2_Silent_p.I1042I|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1382	PDZ 3. {ECO:0000255|PROSITE- ProRule:PRU00143}.				apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCTGGTGAGCGATGCTCCCCA	0.622													G|||	1	0.000199681	0.0008	0.0	5008	,	,		18523	0.0		0.0	False		,,,				2504	0.0																0													106.0	92.0	97.0					10																	79572015		2203	4300	6503	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4146C>T	10.37:g.79572015G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.I1382	ENST00000372391.2	37	c.4146	CCDS7353.2	10																																																																																			DLG5	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.622	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	G			79572015	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	silent	SNP	1.000	A
DLG5	9231	genome.wustl.edu	37	10	79601771	79601771	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:79601771G>A	ENST00000372391.2	-	7	1310	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	DLG5_ENST00000372388.2_Silent_p.I435I	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	435					apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GCTCACTCATGATGAGCTTGT	0.562																																																	0													164.0	118.0	134.0					10																	79601771		2203	4300	6503	SO:0001819	synonymous_variant	9231			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.1305C>T	10.37:g.79601771G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	Silent	SNP	pfam_PDZ,pfam_DUF622,pfam_Guanylate_kin,superfamily_PDZ,superfamily_SH3_domain,superfamily_DEATH-like,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_CARD,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.I435	ENST00000372391.2	37	c.1305	CCDS7353.2	10																																																																																			DLG5	-	NULL		0.562	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	G			79601771	-1	no_errors	ENST00000372391	ensembl	human	known	70_37	silent	SNP	1.000	A
DLGAP4	22839	genome.wustl.edu	37	20	35128773	35128773	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:35128773G>A	ENST00000373907.2	+	9	2470	c.2271G>A	c.(2269-2271)caG>caA	p.Q757Q	DLGAP4_ENST00000373913.3_Silent_p.Q754Q|DLGAP4_ENST00000340491.4_Silent_p.Q218Q|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Silent_p.Q754Q|DLGAP4_ENST00000339266.5_Silent_p.Q757Q			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	757					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGATTGCCCAGATCAAGCGCA	0.642																																																	0													60.0	61.0	61.0					20																	35128773		2203	4300	6503	SO:0001819	synonymous_variant	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2271G>A	20.37:g.35128773G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Silent	SNP	pfam_GKAP	p.Q757	ENST00000373907.2	37	c.2271		20																																																																																			DLGAP4	-	pfam_GKAP		0.642	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	G	NM_014902		35128773	+1	no_errors	ENST00000339266	ensembl	human	known	70_37	silent	SNP	1.000	A
DLGAP4	22839	genome.wustl.edu	37	20	35129008	35129008	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:35129008G>A	ENST00000373907.2	+	9	2705	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	DLGAP4_ENST00000373913.3_Missense_Mutation_p.E833K|DLGAP4_ENST00000340491.4_Missense_Mutation_p.E297K|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000401952.2_Missense_Mutation_p.E833K|DLGAP4_ENST00000339266.5_Missense_Mutation_p.E836K			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	836					cell-cell signaling (GO:0007267)	membrane (GO:0016020)|synapse (GO:0045202)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CAACCTCTCTGAAGAAGGTGG	0.562																																																	0													41.0	41.0	41.0					20																	35129008		2105	4176	6281	SO:0001583	missense	22839			AF088030	CCDS13274.1, CCDS13275.1	20q11.23	2010-02-05			ENSG00000080845	ENSG00000080845			24476	protein-coding gene	gene with protein product						9115257	Standard	XM_005260329		Approved	DAP4, KIAA0964, SAPAP4	uc010zvp.2	Q9Y2H0	OTTHUMG00000032390	ENST00000373907.2:c.2506G>A	20.37:g.35129008G>A	ENSP00000363014:p.Glu836Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5T5|Q5QPG4|Q5T2Y4|Q5T2Y5|Q9H137|Q9H138|Q9H1L7	Missense_Mutation	SNP	pfam_GKAP	p.E836K	ENST00000373907.2	37	c.2506		20	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018435	0.93404	.	.	ENSG00000080845	ENST00000373913;ENST00000401952;ENST00000373907;ENST00000339266;ENST00000340491	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.86	5.86	0.93980	.	0.044969	0.85682	D	0.000000	T	0.71022	0.3291	M	0.88570	2.965	0.80722	D	1	D;D;P;P	0.65815	0.992;0.995;0.698;0.814	D;D;B;P	0.67382	0.951;0.923;0.371;0.782	T	0.75816	-0.3184	10	0.87932	D	0	.	19.1747	0.93599	0.0:0.0:1.0:0.0	.	142;297;836;833	F8WF49;Q9Y2H0-3;Q9Y2H0;Q9Y2H0-1	.;.;DLGP4_HUMAN;.	K	833;833;836;836;297	ENSP00000363023:E833K;ENSP00000384954:E833K;ENSP00000363014:E836K;ENSP00000341633:E836K;ENSP00000345700:E297K	ENSP00000341633:E836K	E	+	1	0	DLGAP4	34562422	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.858000	0.99539	2.775000	0.95449	0.655000	0.94253	GAA	DLGAP4	-	pfam_GKAP		0.562	DLGAP4-007	KNOWN	basic|appris_candidate_longest	protein_coding	DLGAP4	HGNC	protein_coding	OTTHUMT00000079025.2	G	NM_014902		35129008	+1	no_errors	ENST00000339266	ensembl	human	known	70_37	missense	SNP	1.000	A
DLX4	1748	genome.wustl.edu	37	17	48051296	48051296	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:48051296C>T	ENST00000240306.3	+	3	1007	c.712C>T	c.(712-714)Cag>Tag	p.Q238*	DLX4_ENST00000411890.2_Nonsense_Mutation_p.Q166*	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	238					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GGCTTCGCCTCAGATGATGTG	0.612																																																	0													37.0	38.0	37.0					17																	48051296		2203	4300	6503	SO:0001587	stop_gained	1748				CCDS11555.1, CCDS45728.1	17q21.33	2011-06-20			ENSG00000108813	ENSG00000108813		"""Homeoboxes / ANTP class : NKL subclass"""	2917	protein-coding gene	gene with protein product		601911		DLX7, DLX9			Standard	NM_138281		Approved	DLX8, BP1	uc002ipv.3	Q92988	OTTHUMG00000161839	ENST00000240306.3:c.712C>T	17.37:g.48051296C>T	ENSP00000240306:p.Gln238*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTX2|D3DTX3|O60480|Q13265|Q6PJK0|Q9HBE0	Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif,prints_Homeobox_metazoa	p.Q238*	ENST00000240306.3	37	c.712	CCDS11555.1	17	.	.	.	.	.	.	.	.	.	.	C	37	6.241497	0.97403	.	.	ENSG00000108813	ENST00000240306;ENST00000411890	.	.	.	4.84	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.26820	N	0.968812	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.6432	11.2101	0.48793	0.0:0.8148:0.1852:0.0	.	.	.	.	X	238;166	.	ENSP00000240306:Q238X	Q	+	1	0	DLX4	45406295	0.995000	0.38212	0.987000	0.45799	0.804000	0.45430	4.429000	0.59901	2.493000	0.84123	0.561000	0.74099	CAG	DLX4	-	NULL		0.612	DLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLX4	HGNC	protein_coding	OTTHUMT00000366214.1	C			48051296	+1	no_errors	ENST00000240306	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DMKN	93099	genome.wustl.edu	37	19	35992775	35992775	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:35992775G>C	ENST00000339686.3	-	11	1416				DMKN_ENST00000480502.1_Intron|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000408915.2_Missense_Mutation_p.L11V|DMKN_ENST00000443640.1_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000402589.2_Intron|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000602781.1_Intron|DMKN_ENST00000467637.1_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AGCAGGAGCAGAGCAGAGGCA	0.657																																																	0													26.0	34.0	31.0					19																	35992775		2125	4251	6376	SO:0001627	intron_variant	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1239+262C>G	19.37:g.35992775G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	Missense_Mutation	SNP	NULL	p.L11V	ENST00000339686.3	37	c.31	CCDS12463.1	19	.	.	.	.	.	.	.	.	.	.	G	11.17	1.559796	0.27827	.	.	ENSG00000161249	ENST00000408915	T	0.40225	1.04	4.51	2.34	0.29019	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.71870	0.975	T	0.56426	-0.7981	8	0.87932	D	0	.	6.1714	0.20418	0.1026:0.1886:0.7089:0.0	.	11	Q6E0U4-15	.	V	11	ENSP00000386225:L11V	ENSP00000386225:L11V	L	-	1	2	DMKN	40684615	0.988000	0.35896	0.802000	0.32245	0.602000	0.36980	0.468000	0.22051	0.528000	0.28580	0.491000	0.48974	CTG	DMKN	-	NULL		0.657	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	G	NM_033317		35992775	-1	no_errors	ENST00000408915	ensembl	human	known	70_37	missense	SNP	0.958	C
DMRT3	58524	genome.wustl.edu	37	9	990438	990438	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:990438C>T	ENST00000190165.2	+	2	890	c.852C>T	c.(850-852)gtC>gtT	p.V284V		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	284					adult walking behavior (GO:0007628)|male sex differentiation (GO:0046661)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|sex differentiation (GO:0007548)|transcription, DNA-templated (GO:0006351)|transmission of nerve impulse (GO:0019226)|ventral spinal cord interneuron specification (GO:0021521)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		CCGTGGAAGTCCTTCTGTCCA	0.557																																																	0																																										SO:0001819	synonymous_variant	58524			AJ301581	CCDS6443.1	9p24.3	2008-07-21	2001-12-17	2001-12-07	ENSG00000064218	ENSG00000064218			13909	protein-coding gene	gene with protein product	"""testis-specific protein"""	614754	"""DMRT-like family A3"""	DMRTA3		11543627, 10729223	Standard	NM_021240		Approved		uc003zgw.2	Q9NQL9	OTTHUMG00000019436	ENST00000190165.2:c.852C>T	9.37:g.990438C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LA03|Q7LCH8|Q96SC7|Q9NRQ9	Silent	SNP	pfam_DM_DNA-bd,pfam_DMA,superfamily_DM_DNA-bd,superfamily_UBA-like,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.V284	ENST00000190165.2	37	c.852	CCDS6443.1	9																																																																																			DMRT3	-	pfam_DMA,superfamily_UBA-like		0.557	DMRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT3	HGNC	protein_coding	OTTHUMT00000051490.1	C	NM_021240		990438	+1	no_errors	ENST00000190165	ensembl	human	known	70_37	silent	SNP	0.999	T
DMXL2	23312	genome.wustl.edu	37	15	51768828	51768828	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:51768828C>T	ENST00000251076.5	-	27	7206	c.6919G>A	c.(6919-6921)Gaa>Aaa	p.E2307K	DMXL2_ENST00000449909.3_Missense_Mutation_p.E1671K|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.E2308K	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2307						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCGTGTTCTTCAATGCTTTCT	0.343																																																	0													167.0	159.0	162.0					15																	51768828		2196	4293	6489	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.6919G>A	15.37:g.51768828C>T	ENSP00000251076:p.Glu2307Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E2308K	ENST00000251076.5	37	c.6922	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705033	0.88924	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.26373	1.87;1.87;1.74	5.34	5.34	0.76211	.	0.046754	0.85682	D	0.000000	T	0.34164	0.0888	L	0.59436	1.845	0.80722	D	1	P;P;P;D	0.52996	0.929;0.877;0.682;0.957	B;B;B;P	0.44811	0.433;0.339;0.129;0.461	T	0.21211	-1.0252	10	0.72032	D	0.01	.	19.0467	0.93022	0.0:1.0:0.0:0.0	.	2308;1671;2307;2308	F5GWF1;B2RTR3;Q8TDJ6;B7ZMH3	.;.;DMXL2_HUMAN;.	K	2307;2308;1671	ENSP00000251076:E2307K;ENSP00000441858:E2308K;ENSP00000400855:E1671K	ENSP00000251076:E2307K	E	-	1	0	DMXL2	49556120	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.270000	0.78493	2.502000	0.84385	0.655000	0.94253	GAA	DMXL2	-	NULL		0.343	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	C	NM_015263		51768828	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	1.000	T
DNAH1	25981	genome.wustl.edu	37	3	52413996	52413996	+	Missense_Mutation	SNP	G	G	A	rs11543236		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:52413996G>A	ENST00000420323.2	+	48	7714	c.7453G>A	c.(7453-7455)Gac>Aac	p.D2485N		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2485					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GAATGAGGAGGACCGCAGCTG	0.607																																																	0													50.0	58.0	55.0					3																	52413996		2122	4218	6340	SO:0001583	missense	25981			U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.7453G>A	3.37:g.52413996G>A	ENSP00000401514:p.Asp2485Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA	p.D2485N	ENST00000420323.2	37	c.7453	CCDS46842.1	3	.	.	.	.	.	.	.	.	.	.	G	36	5.837904	0.97009	.	.	ENSG00000114841	ENST00000420323	T	0.45276	0.9	5.4	5.4	0.78164	.	0.000000	0.51477	D	0.000100	T	0.75708	0.3886	H	0.94423	3.535	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82398	-0.0477	10	0.87932	D	0	.	19.3589	0.94425	0.0:0.0:1.0:0.0	.	2485	C9JXH6	.	N	2485	ENSP00000401514:D2485N	ENSP00000401514:D2485N	D	+	1	0	DNAH1	52389036	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.515000	0.98015	2.812000	0.96745	0.563000	0.77884	GAC	DNAH1	-	NULL		0.607	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH1	HGNC	protein_coding	OTTHUMT00000350816.1	G	NM_015512		52413996	+1	no_errors	ENST00000420323	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH11	8701	genome.wustl.edu	37	7	21604003	21604003	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:21604003C>G	ENST00000409508.3	+	6	1213	c.1182C>G	c.(1180-1182)ctC>ctG	p.L394L	DNAH11_ENST00000328843.6_Silent_p.L394L	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	394	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTGTAATCTCTTCATTAACC	0.363									Kartagener syndrome																																								0													61.0	55.0	57.0					7																	21604003		1813	4074	5887	SO:0001819	synonymous_variant	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.1182C>G	7.37:g.21604003C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.L394	ENST00000409508.3	37	c.1182		7																																																																																			DNAH11	-	pfam_Dynein_heavy_dom-1		0.363	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	C	NM_003777		21604003	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	silent	SNP	1.000	G
DNAH12	201625	genome.wustl.edu	37	3	57443851	57443851	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:57443851C>A	ENST00000351747.2	-	21	3139	c.2959G>T	c.(2959-2961)Gaa>Taa	p.E987*		NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	987	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						CGTTTCTTTTCAAGATATGCG	0.303																																																	0													124.0	107.0	112.0					3																	57443851		692	1591	2283	SO:0001587	stop_gained	201625			U53532, AK126276	CCDS33771.1	3p21.1	2009-02-04	2006-09-04		ENSG00000174844	ENSG00000174844		"""Axonemal dyneins"""	2943	protein-coding gene	gene with protein product		603340	"""dynein, axonemal, heavy polypeptide 12"", ""dynein heavy chain domain 2"", ""dynein heavy domain 2"", ""dynein, axonemal, heavy chain 12-like"", ""dynein, axonemal, heavy chain 7-like"""	DNHD2, DNAH12L, DNAH7L		8812413, 8666668	Standard	NM_198564		Approved	DLP12, Dnahc3, HL-19, hdhc3, DHC3, FLJ40427, FLJ44290	uc003dit.2	Q6ZR08	OTTHUMG00000158598	ENST00000351747.2:c.2959G>T	3.37:g.57443851C>A	ENSP00000295937:p.Glu987*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGI2|Q6ZTR8|Q8N7R9|Q8WXK2|Q92816	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.E987*	ENST00000351747.2	37	c.2959		3	.	.	.	.	.	.	.	.	.	.	C	43	10.243678	0.99367	.	.	ENSG00000174844	ENST00000351747;ENST00000495027	.	.	.	5.87	5.87	0.94306	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.206	0.98277	0.0:1.0:0.0:0.0	.	.	.	.	X	987;1010	.	ENSP00000295937:E987X	E	-	1	0	DNAH12	57418891	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.759000	0.85235	2.785000	0.95823	0.655000	0.94253	GAA	DNAH12	-	pfam_Dynein_heavy_dom-2		0.303	DNAH12-202	KNOWN	basic|appris_principal	protein_coding	DNAH12	HGNC	protein_coding		C	NM_178504		57443851	-1	no_errors	ENST00000351747	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DNAH14	127602	genome.wustl.edu	37	1	225328694	225328694	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:225328694C>G	ENST00000445597.2	+	17	3276	c.3276C>G	c.(3274-3276)atC>atG	p.I1092M	DNAH14_ENST00000439375.2_Missense_Mutation_p.I1476M|DNAH14_ENST00000430092.1_Missense_Mutation_p.I1476M			Q0VDD8	DYH14_HUMAN	dynein, axonemal, heavy chain 14	1092					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(2)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(2)|lung(2)|skin(2)|stomach(1)	27						TTAAAAATATCTTCAATGCAG	0.323																																																	0													50.0	48.0	49.0					1																	225328694		692	1591	2283	SO:0001583	missense	127602			U61741	CCDS41472.1, CCDS44322.1	1q42.13	2009-02-12	2006-09-04		ENSG00000185842	ENSG00000185842		"""Axonemal dyneins"""	2945	protein-coding gene	gene with protein product		603341	"""dynein, axonemal, heavy polypeptide 14"", ""chromosome 1 open reading frame 67"""	C1orf67		8812413	Standard	NM_144989		Approved	Dnahc14, HL-18, HL18, DKFZp781B1548, MGC27277	uc001how.2	Q0VDD8	OTTHUMG00000037447	ENST00000445597.2:c.3276C>G	1.37:g.225328694C>G	ENSP00000409472:p.Ile1092Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG62|A6NNL2|Q0VDD9|Q4VXC7|Q4VXG4|Q4VXG5|Q5VU33|Q5VU34	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Tautomerase,smart_AAA+_ATPase	p.I1476M	ENST00000445597.2	37	c.4428		1	.	.	.	.	.	.	.	.	.	.	C	15.90	2.969468	0.53614	.	.	ENSG00000185842	ENST00000445597;ENST00000430092;ENST00000439375;ENST00000328556	T;T;T;T	0.34859	2.39;1.34;1.34;1.6	5.67	2.59	0.31030	.	.	.	.	.	T	0.45577	0.1349	L	0.49126	1.545	0.36081	D	0.842761	D	0.67145	0.996	D	0.64237	0.923	T	0.52094	-0.8621	9	0.87932	D	0	.	5.3736	0.16152	0.1399:0.6155:0.0:0.2446	.	1476	Q0VDD8-4	.	M	1092;1476;1476;571	ENSP00000409472:I1092M;ENSP00000414402:I1476M;ENSP00000392061:I1476M;ENSP00000332424:I571M	ENSP00000332424:I571M	I	+	3	3	DNAH14	223395317	0.838000	0.29461	0.081000	0.20488	0.988000	0.76386	0.887000	0.28254	0.247000	0.21414	0.603000	0.83216	ATC	DNAH14	-	NULL		0.323	DNAH14-007	PUTATIVE	basic|exp_conf	protein_coding	DNAH14	HGNC	protein_coding	OTTHUMT00000331217.3	C	XM_059166		225328694	+1	no_errors	ENST00000430092	ensembl	human	known	70_37	missense	SNP	0.375	G
DNAH5	1767	genome.wustl.edu	37	5	13868027	13868027	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:13868027G>A	ENST00000265104.4	-	25	4013	c.3909C>T	c.(3907-3909)caC>caT	p.H1303H	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1303	Stem. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCAAGCATAGTGCAGTGTAT	0.418									Kartagener syndrome																																								0													121.0	104.0	110.0					5																	13868027		2203	4300	6503	SO:0001819	synonymous_variant	1767	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.3909C>T	5.37:g.13868027G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q92860|Q96L74|Q9H5S7|Q9HCG9	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.H1303	ENST00000265104.4	37	c.3909	CCDS3882.1	5																																																																																			DNAH5	-	NULL		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH5	HGNC	protein_coding	OTTHUMT00000207057.2	G	NM_001369		13868027	-1	no_errors	ENST00000265104	ensembl	human	known	70_37	silent	SNP	0.979	A
DNAH6	1768	genome.wustl.edu	37	2	84954818	84954818	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:84954818C>G	ENST00000237449.6	+	60	10006	c.9998C>G	c.(9997-9999)tCt>tGt	p.S3333C	DNAH6_ENST00000389394.3_Missense_Mutation_p.S3333C			Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	3333					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATTGAAACTTCTGTAAAGACA	0.378																																																	0													115.0	96.0	102.0					2																	84954818		692	1591	2283	SO:0001583	missense	1768			U61736	CCDS46348.1	2p11.2	2011-05-24	2006-09-04		ENSG00000115423	ENSG00000115423		"""Axonemal dyneins"""	2951	protein-coding gene	gene with protein product		603336	"""dynein, axonemal, heavy polypeptide 6"", ""dynein heavy chain-like 1"""	DNHL1		8812413	Standard	NM_001370		Approved	Dnahc6, HL-2, FLJ37357	uc010fgb.3	Q9C0G6	OTTHUMG00000128957	ENST00000237449.6:c.9998C>G	2.37:g.84954818C>G	ENSP00000237449:p.Ser3333Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJN9|B5MEE0|B7ZL99|O95493|Q53QZ1|Q53TE5|Q8N1W6|Q92861|Q96BL6|Q9H030|Q9H5E1	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.S3333C	ENST00000237449.6	37	c.9998	CCDS46348.1	2	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072720	0.55646	.	.	ENSG00000115423	ENST00000389394;ENST00000237449	T;T	0.60672	0.17;0.17	5.86	5.86	0.93980	.	0.214562	0.40818	N	0.001009	T	0.79317	0.4425	M	0.90542	3.125	0.80722	D	1	D;D	0.65815	0.991;0.995	P;D	0.63703	0.827;0.917	T	0.82508	-0.0422	10	0.72032	D	0.01	.	16.0536	0.80779	0.0:1.0:0.0:0.0	.	3333;92	Q9C0G6;Q9C0G6-2	DYH6_HUMAN;.	C	3333	ENSP00000374045:S3333C;ENSP00000237449:S3333C	ENSP00000237449:S3333C	S	+	2	0	DNAH6	84808329	0.978000	0.34361	0.168000	0.22838	0.135000	0.20990	4.820000	0.62671	2.937000	0.99478	0.650000	0.86243	TCT	DNAH6	-	NULL		0.378	DNAH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH6	HGNC	protein_coding	OTTHUMT00000328537.2	C	NM_001370		84954818	+1	no_errors	ENST00000237449	ensembl	human	known	70_37	missense	SNP	0.847	G
DNASE1L1	1774	genome.wustl.edu	37	X	153631423	153631423	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153631423C>T	ENST00000393638.1	-	7	920	c.634G>A	c.(634-636)Gat>Aat	p.D212N	DNASE1L1_ENST00000369809.1_Missense_Mutation_p.D212N|SNORA70_ENST00000384436.1_RNA	NM_001009934.1	NP_001009934.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	212					DNA metabolic process (GO:0006259)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|endodeoxyribonuclease activity, producing 5'-phosphomonoesters (GO:0016888)			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCTCCCCATCGGCAATCACC	0.642																																																	0													58.0	56.0	57.0					X																	153631423		2203	4300	6503	SO:0001583	missense	1774			L40817	CCDS14747.1	Xq28	2008-02-05			ENSG00000013563	ENSG00000013563			2957	protein-coding gene	gene with protein product	"""DNase X"""	300081		DNL1L		8541839, 8654957	Standard	XM_005277829		Approved	DNAS1L1, XIB, DNASEX	uc004fkw.1	P49184	OTTHUMG00000033188	ENST00000393638.1:c.634G>A	X.37:g.153631423C>T	ENSP00000377255:p.Asp212Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWW7|Q5HY41	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk	p.D212N	ENST00000393638.1	37	c.634	CCDS14747.1	X	.	.	.	.	.	.	.	.	.	.	C	28.9	4.958374	0.92726	.	.	ENSG00000013563	ENST00000369809;ENST00000393638;ENST00000014935;ENST00000369808;ENST00000369807;ENST00000309585	T;T;T;T;T;T	0.39229	1.09;1.09;1.09;1.09;1.09;1.09	5.11	5.11	0.69529	Endonuclease/exonuclease/phosphatase (2);	0.050660	0.85682	D	0.000000	T	0.65375	0.2685	M	0.77820	2.39	0.46954	D	0.999262	D	0.89917	1.0	D	0.80764	0.994	T	0.70608	-0.4825	10	0.87932	D	0	-10.9846	14.9165	0.70801	0.0:1.0:0.0:0.0	.	212	P49184	DNSL1_HUMAN	N	212	ENSP00000358824:D212N;ENSP00000377255:D212N;ENSP00000014935:D212N;ENSP00000358823:D212N;ENSP00000358822:D212N;ENSP00000309168:D212N	ENSP00000014935:D212N	D	-	1	0	DNASE1L1	153284617	0.999000	0.42202	0.019000	0.16419	0.735000	0.41995	4.794000	0.62482	2.106000	0.64143	0.597000	0.82753	GAT	DNASE1L1	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,smart_DNase_I_euk,pirsf_DNase_I_euk,prints_DNase_I_euk		0.642	DNASE1L1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	DNASE1L1	HGNC	protein_coding	OTTHUMT00000080928.2	C			153631423	-1	no_errors	ENST00000014935	ensembl	human	known	70_37	missense	SNP	0.927	T
DNMBP	23268	genome.wustl.edu	37	10	101716973	101716973	+	Intron	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:101716973G>T	ENST00000324109.4	-	4	360				DNMBP_ENST00000342239.3_Intron|DNMBP-AS1_ENST00000434409.1_RNA	NM_015221.2	NP_056036.1	Q6XZF7	DNMBP_HUMAN	dynamin binding protein						intracellular signal transduction (GO:0035556)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|synapse (GO:0045202)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CTAAAGAAAAGAGGAGCAGAG	0.502																																																	0													15.0	15.0	15.0					10																	101716973		2198	4288	6486	SO:0001627	intron_variant	100188954			AL833283	CCDS7485.1	10q24.31	2012-07-24			ENSG00000107554	ENSG00000107554		"""Rho guanine nucleotide exchange factors"""	30373	protein-coding gene	gene with protein product	"""scaffold protein TUBA"""	611282				10231032, 14506234	Standard	NM_015221		Approved	KIAA1010, Tuba, ARHGEF36	uc001kqj.2	Q6XZF7	OTTHUMG00000018897	ENST00000324109.4:c.269-11C>A	10.37:g.101716973G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVY3|Q9Y2L3	RNA	SNP	-	NULL	ENST00000324109.4	37	NULL	CCDS7485.1	10																																																																																			DNMBP-AS1	-	-		0.502	DNMBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNMBP-AS1	HGNC	protein_coding	OTTHUMT00000049832.2	G	NM_015221		101716973	+1	no_errors	ENST00000434409	ensembl	human	known	70_37	rna	SNP	0.001	T
DNMT3L	29947	genome.wustl.edu	37	21	45675965	45675965	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:45675965C>G	ENST00000418993.1	-	7	1072	c.589G>C	c.(589-591)Gaa>Caa	p.E197Q	DNMT3L_ENST00000270172.3_Missense_Mutation_p.E197Q	NM_175867.2	NP_787063.1	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	197					chorionic trophoblast cell differentiation (GO:0060718)|DNA methylation (GO:0006306)|in utero embryonic development (GO:0001701)|negative regulation of transcription, DNA-templated (GO:0045892)|placenta development (GO:0001890)|positive regulation of catalytic activity (GO:0043085)|regulation of gene expression by genetic imprinting (GO:0006349)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|cytosol (GO:0005829)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTGATGTCTTCAAAAAGGGAC	0.512																																																	0													105.0	106.0	105.0					21																	45675965		2203	4300	6503	SO:0001583	missense	29947			AF194032	CCDS13705.1	21q22.3	2008-07-31			ENSG00000142182	ENSG00000142182			2980	protein-coding gene	gene with protein product	"""cytosine-5-methyltransferase 3-like protein"", ""human cytosine-5-methyltransferase 3-like protein"""	606588				10857753	Standard	NM_013369		Approved	MGC1090	uc002zeh.2	Q9UJW3	OTTHUMG00000086914	ENST00000418993.1:c.589G>C	21.37:g.45675965C>G	ENSP00000412862:p.Glu197Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB42|Q9BUJ4	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD	p.E197Q	ENST00000418993.1	37	c.589	CCDS46650.1	21	.	.	.	.	.	.	.	.	.	.	C	4.362	0.066661	0.08388	.	.	ENSG00000142182	ENST00000270172;ENST00000418993;ENST00000431166	T;T;T	0.76709	-1.04;-1.04;-1.04	3.44	1.53	0.23141	.	0.678701	0.12440	U	0.468757	T	0.56031	0.1958	N	0.08118	0	0.23101	N	0.998299	B;B	0.09022	0.002;0.002	B;B	0.01281	0.0;0.0	T	0.49244	-0.8960	10	0.72032	D	0.01	-16.2042	6.0311	0.19681	0.0:0.7436:0.0:0.2564	.	197;197	Q9UJW3-2;Q9UJW3	.;DNM3L_HUMAN	Q	197;197;182	ENSP00000270172:E197Q;ENSP00000412862:E197Q;ENSP00000400242:E182Q	ENSP00000270172:E197Q	E	-	1	0	DNMT3L	44500393	0.994000	0.37717	0.206000	0.23566	0.010000	0.07245	2.978000	0.49305	0.262000	0.21774	0.462000	0.41574	GAA	DNMT3L	-	NULL		0.512	DNMT3L-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	DNMT3L	HGNC	protein_coding	OTTHUMT00000195820.1	C	NM_013369		45675965	-1	no_errors	ENST00000270172	ensembl	human	known	70_37	missense	SNP	0.965	G
DOCK9	23348	genome.wustl.edu	37	13	99567632	99567632	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:99567632G>A	ENST00000376460.1	-	8	923	c.843C>T	c.(841-843)ctC>ctT	p.L281L	DOCK9_ENST00000448493.2_Silent_p.L293L|DOCK9_ENST00000442173.1_Silent_p.L281L|DOCK9_ENST00000339416.2_Silent_p.L282L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	282	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTTCAAAGTTGAGCTGGAGGA	0.453																																																	0													102.0	99.0	100.0					13																	99567632		2100	4228	6328	SO:0001819	synonymous_variant	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000376460.1:c.843C>T	13.37:g.99567632G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Silent	SNP	pfam_DOCK_C,pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,superfamily_ARM-type_fold,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L282	ENST00000376460.1	37	c.846	CCDS45062.1	13																																																																																			DOCK9	-	smart_Pleckstrin_homology		0.453	DOCK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK9	HGNC	protein_coding	OTTHUMT00000045566.1	G	NM_015296		99567632	-1	no_errors	ENST00000339416	ensembl	human	known	70_37	silent	SNP	1.000	A
DOK6	220164	genome.wustl.edu	37	18	67344969	67344969	+	Splice_Site	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:67344969G>A	ENST00000382713.5	+	4	479		c.e4-1		DOK6_ENST00000584435.1_Splice_Site	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6											central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GTTACTTTCAGAGCTGGAGGC	0.517																																																	0													123.0	117.0	119.0					18																	67344969		2203	4300	6503	SO:0001630	splice_region_variant	220164			AK057795	CCDS32841.1	18q22.2	2013-01-10	2005-01-18	2005-01-18		ENSG00000206052		"""Pleckstrin homology (PH) domain containing"""	28301	protein-coding gene	gene with protein product		611402	"""docking protein 5-like"""	DOK5L		15286081	Standard	NM_152721		Approved	MGC20785, HsT3226	uc002lkl.3	Q6PKX4		ENST00000382713.5:c.290-1G>A	18.37:g.67344969G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNG3|Q4V9S3|Q8WUZ8|Q96HI2|Q96LU2	Splice_Site	SNP	-	e4-1	ENST00000382713.5	37	c.290-1	CCDS32841.1	18	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769245	0.69992	.	.	ENSG00000206052	ENST00000382713	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.9217	0.86166	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOK6	65495949	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.221000	0.95188	2.937000	0.99478	0.650000	0.86243	.	DOK6	-	-		0.517	DOK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK6	HGNC	protein_coding	OTTHUMT00000442969.1	G	NM_152721	Intron	67344969	+1	no_errors	ENST00000382713	ensembl	human	known	70_37	splice_site	SNP	1.000	A
DOPEY1	23033	genome.wustl.edu	37	6	83846971	83846971	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:83846971C>T	ENST00000349129.2	+	21	3470	c.3210C>T	c.(3208-3210)ctC>ctT	p.L1070L	DOPEY1_ENST00000369739.3_Silent_p.L1061L|DOPEY1_ENST00000237163.5_Silent_p.L1051L	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1070					protein transport (GO:0015031)					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		ACTTTAGTCTCACTGTGAATC	0.393																																																	0													88.0	85.0	86.0					6																	83846971		2203	4299	6502	SO:0001819	synonymous_variant	23033			AK027030	CCDS4996.1, CCDS64467.1	6q15	2013-03-05	2006-02-02	2006-02-02	ENSG00000083097	ENSG00000083097			21194	protein-coding gene	gene with protein product			"""KIAA1117"""	KIAA1117		16301316, 16303751, 10931277	Standard	NM_015018		Approved	dJ202D23.2	uc011dyy.2	Q5JWR5	OTTHUMG00000016365	ENST00000349129.2:c.3210C>T	6.37:g.83846971C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XV1|Q9H5J5|Q9NSL4|Q9UPN5|Q9Y414	Silent	SNP	pfam_Dopey_N,superfamily_ARM-type_fold	p.L1070	ENST00000349129.2	37	c.3210	CCDS4996.1	6																																																																																			DOPEY1	-	superfamily_ARM-type_fold		0.393	DOPEY1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	DOPEY1	HGNC	protein_coding	OTTHUMT00000043785.2	C	NM_015018		83846971	+1	no_errors	ENST00000349129	ensembl	human	known	70_37	silent	SNP	0.861	T
DPCD	25911	genome.wustl.edu	37	10	103368688	103368688	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:103368688C>T	ENST00000370151.4	+	5	550	c.501C>T	c.(499-501)atC>atT	p.I167I	DPCD_ENST00000370147.1_3'UTR|FBXW4_ENST00000470093.1_5'Flank	NM_015448.1	NP_056263.1	Q9BVM2	DPCD_HUMAN	deleted in primary ciliary dyskinesia homolog (mouse)	167					determination of left/right symmetry (GO:0007368)|epithelial cilium movement (GO:0003351)|lateral ventricle development (GO:0021670)|left/right pattern formation (GO:0060972)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|third ventricle development (GO:0021678)	nucleus (GO:0005634)				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5						GCACCCTGATCATCTCTGTAA	0.507																																																	0													170.0	155.0	160.0					10																	103368688		2203	4300	6503	SO:0001819	synonymous_variant	25911				CCDS7514.1	10q24.32	2012-05-03			ENSG00000166171	ENSG00000166171			24542	protein-coding gene	gene with protein product						14630615	Standard	NM_015448		Approved	DKFZP566F084, RP11-529I10.4	uc001ktn.3	Q9BVM2	OTTHUMG00000018934	ENST00000370151.4:c.501C>T	10.37:g.103368688C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K289|Q6QNL3|Q8N5R1|Q9UFY6	Silent	SNP	NULL	p.I167	ENST00000370151.4	37	c.501	CCDS7514.1	10																																																																																			DPCD	-	NULL		0.507	DPCD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPCD	HGNC	protein_coding	OTTHUMT00000049958.2	C			103368688	+1	no_errors	ENST00000370151	ensembl	human	known	70_37	silent	SNP	0.991	T
DPCR1	135656	genome.wustl.edu	37	6	30917500	30917500	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:30917500C>G	ENST00000462446.1	+	2	1287	c.1259C>G	c.(1258-1260)tCt>tGt	p.S420C	HCG21_ENST00000419481.1_RNA|DPCR1_ENST00000304311.2_5'UTR			Q3MIW9	DPCR1_HUMAN	diffuse panbronchiolitis critical region 1	325						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						TCAGCAGAGTCTACAGAACAT	0.502																																																	0													154.0	158.0	157.0					6																	30917500		692	1591	2283	SO:0001583	missense	135656			AB064272	CCDS4692.1, CCDS4692.2	6p21.32	2008-02-05			ENSG00000168631	ENSG00000168631			21666	protein-coding gene	gene with protein product		613928				12185533, 10677310	Standard	NM_080870		Approved	PBLT, bCX105N19.6	uc003nsg.2	Q3MIW9	OTTHUMG00000031104	ENST00000462446.1:c.1259C>G	6.37:g.30917500C>G	ENSP00000417182:p.Ser420Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IZC0|Q658M7|Q8WYN2	Missense_Mutation	SNP	NULL	p.S420C	ENST00000462446.1	37	c.1259	CCDS4692.2	6	.	.	.	.	.	.	.	.	.	.	-	7.572	0.667009	0.14710	.	.	ENSG00000168631	ENST00000462446	T	0.47528	0.84	2.36	1.44	0.22558	.	.	.	.	.	T	0.27594	0.0678	N	0.22421	0.69	0.22947	N	0.998526	D	0.56968	0.978	P	0.54460	0.753	T	0.06127	-1.0844	9	0.72032	D	0.01	.	8.6384	0.33962	0.2293:0.7707:0.0:0.0	.	420	E9PEI6	.	C	420	ENSP00000417182:S420C	ENSP00000417182:S420C	S	+	2	0	DPCR1	31025479	0.000000	0.05858	0.001000	0.08648	0.006000	0.05464	0.541000	0.23207	0.580000	0.29522	-0.365000	0.07479	TCT	DPCR1	-	NULL		0.502	DPCR1-001	NOVEL	not_organism_supported|basic|CCDS	protein_coding	DPCR1	HGNC	protein_coding	OTTHUMT00000076173.3	C	NM_080870		30917500	+1	no_errors	ENST00000462446	ensembl	human	novel	70_37	missense	SNP	0.005	G
DPYD	1806	genome.wustl.edu	37	1	97547945	97547945	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:97547945C>T	ENST00000370192.3	-	22	2948	c.2848G>A	c.(2848-2850)Gaa>Aaa	p.E950K		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	950	4Fe-4S ferredoxin-type 2. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	CACATTTCTTCATCAATCATA	0.388																																																	0													243.0	221.0	229.0					1																	97547945		2203	4300	6503	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2848G>A	1.37:g.97547945C>T	ENSP00000359211:p.Glu950Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.E950K	ENST00000370192.3	37	c.2848	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.675483	0.88445	.	.	ENSG00000188641	ENST00000370192	D	0.88664	-2.41	5.82	5.82	0.92795	4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.000000	0.85682	D	0.000000	D	0.87485	0.6189	L	0.38692	1.165	0.80722	D	1	P	0.48230	0.907	P	0.50934	0.654	D	0.88391	0.3008	10	0.66056	D	0.02	-25.6191	20.0954	0.97838	0.0:1.0:0.0:0.0	.	950	Q12882	DPYD_HUMAN	K	950	ENSP00000359211:E950K	ENSP00000359211:E950K	E	-	1	0	DPYD	97320533	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.074000	0.50065	2.746000	0.94184	0.655000	0.94253	GAA	DPYD	-	NULL		0.388	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	C	NM_000110		97547945	-1	no_errors	ENST00000370192	ensembl	human	known	70_37	missense	SNP	1.000	T
DSC1	1823	genome.wustl.edu	37	18	28710590	28710590	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:28710590G>C	ENST00000257198.5	-	16	2833	c.2572C>G	c.(2572-2574)Ctg>Gtg	p.L858V	RP11-408H20.3_ENST00000582307.1_RNA|DSC1_ENST00000257197.3_3'UTR|RP11-408H20.2_ENST00000581836.1_RNA	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	858					homophilic cell adhesion (GO:0007156)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|gap junction (GO:0005921)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GAGCCGGCCAGAGAACCTTTG	0.443																																																	0													145.0	144.0	144.0					18																	28710590		2203	4300	6503	SO:0001583	missense	1823			AF293358	CCDS11894.1, CCDS11895.1	18q12.1	2010-01-26			ENSG00000134765	ENSG00000134765		"""Cadherins / Major cadherins"""	3035	protein-coding gene	gene with protein product		125643				8486729	Standard	NM_024421		Approved	CDHF1	uc002kwn.3	Q08554	OTTHUMG00000131982	ENST00000257198.5:c.2572C>G	18.37:g.28710590G>C	ENSP00000257198:p.Leu858Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HB01	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_pro_dom,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Desmocollin,prints_Cadherin,prints_Desmo_cadherin	p.L858V	ENST00000257198.5	37	c.2572	CCDS11894.1	18	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.686910	0.00738	.	.	ENSG00000134765	ENST00000257198	T	0.75260	-0.92	6.17	-11.0	0.00169	Cadherin, cytoplasmic domain (1);	1.593630	0.03760	N	0.258059	T	0.36908	0.0984	N	0.04355	-0.22	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.39502	-0.9611	10	0.02654	T	1	.	1.0342	0.01544	0.2187:0.1459:0.2827:0.3526	.	858	Q08554	DSC1_HUMAN	V	858	ENSP00000257198:L858V	ENSP00000257198:L858V	L	-	1	2	DSC1	26964588	0.000000	0.05858	0.000000	0.03702	0.450000	0.32258	-3.035000	0.00635	-3.001000	0.00276	-1.291000	0.01355	CTG	DSC1	-	pfam_Cadherin_cytoplasmic-dom,prints_Desmo_cadherin		0.443	DSC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DSC1	HGNC	protein_coding	OTTHUMT00000254946.1	G	NM_004948, NM_024421		28710590	-1	no_errors	ENST00000257198	ensembl	human	known	70_37	missense	SNP	0.000	C
DSP	1832	genome.wustl.edu	37	6	7581463	7581463	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:7581463G>A	ENST00000379802.3	+	23	5381	c.5040G>A	c.(5038-5040)ttG>ttA	p.L1680L	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1680	Central fibrous rod domain.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAGCTCACTTGAGGAATGAGC	0.483																																																	0													93.0	101.0	98.0					6																	7581463		2203	4300	6503	SO:0001819	synonymous_variant	1832			J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.5040G>A	6.37:g.7581463G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Silent	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.L1680	ENST00000379802.3	37	c.5040	CCDS4501.1	6																																																																																			DSP	-	NULL		0.483	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DSP	HGNC	protein_coding	OTTHUMT00000039786.2	G	NM_004415		7581463	+1	no_errors	ENST00000379802	ensembl	human	known	70_37	silent	SNP	0.984	A
DSPP	1834	genome.wustl.edu	37	4	88536937	88536937	+	Silent	SNP	T	T	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:88536937T>C	ENST00000282478.7	+	4	3156	c.3123T>C	c.(3121-3123)gaT>gaC	p.D1041D	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Silent_p.D1041D			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1041	Asp/Ser-rich.				biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		acagcagcgatagcagtgaca	0.522																																																	0													55.0	64.0	61.0					4																	88536937		1555	2768	4323	SO:0001819	synonymous_variant	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3123T>C	4.37:g.88536937T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUI0|O95815	Silent	SNP	NULL	p.D1041	ENST00000282478.7	37	c.3123	CCDS43248.1	4																																																																																			DSPP	-	NULL		0.522	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	T	NM_014208		88536937	+1	no_errors	ENST00000282478	ensembl	human	known	70_37	silent	SNP	0.986	C
DSPP	1834	genome.wustl.edu	37	4	88536999	88536999	+	Missense_Mutation	SNP	A	A	G	rs202222170		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:88536999A>G	ENST00000282478.7	+	4	3218	c.3185A>G	c.(3184-3186)gAc>gGc	p.D1062G	RP11-742B18.1_ENST00000506480.1_RNA|DSPP_ENST00000399271.1_Missense_Mutation_p.D1062G			Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	1062	Asp/Ser-rich.			D -> G (in Ref. 1; AAF42472). {ECO:0000305}.	biomineral tissue development (GO:0031214)|cellular response to cell-matrix adhesion (GO:0071460)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|collagen binding (GO:0005518)|extracellular matrix structural constituent (GO:0005201)			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		gacagcagtgacagcagcgac	0.532																																																	0													48.0	61.0	56.0					4																	88536999		1554	2803	4357	SO:0001583	missense	1834			AF163151	CCDS43248.1	4q21.3	2008-02-05			ENSG00000152591	ENSG00000152591			3054	protein-coding gene	gene with protein product		125485		DFNA39, DGI1		8995371, 9533027	Standard	NM_014208		Approved	DMP3	uc003hqu.3	Q9NZW4	OTTHUMG00000161061	ENST00000282478.7:c.3185A>G	4.37:g.88536999A>G	ENSP00000282478:p.Asp1062Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUI0|O95815	Missense_Mutation	SNP	NULL	p.D1062G	ENST00000282478.7	37	c.3185	CCDS43248.1	4	.	.	.	.	.	.	.	.	.	.	a	6.732	0.503863	0.12822	.	.	ENSG00000152591	ENST00000399271;ENST00000282478	D;D	0.88975	-2.45;-2.45	1.51	1.51	0.23008	.	.	.	.	.	D	0.87716	0.6247	L	0.29908	0.895	0.21762	N	0.99955	D	0.76494	0.999	D	0.74023	0.982	T	0.76072	-0.3093	9	0.24483	T	0.36	.	5.1866	0.15187	1.0:0.0:0.0:0.0	.	1062	Q9NZW4	DSPP_HUMAN	G	1062	ENSP00000382213:D1062G;ENSP00000282478:D1062G	ENSP00000282478:D1062G	D	+	2	0	DSPP	88756023	0.386000	0.25180	0.936000	0.37596	0.006000	0.05464	2.307000	0.43682	0.963000	0.38082	0.242000	0.17961	GAC	DSPP	-	NULL		0.532	DSPP-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	DSPP	HGNC	protein_coding	OTTHUMT00000363616.3	A	NM_014208		88536999	+1	no_errors	ENST00000282478	ensembl	human	known	70_37	missense	SNP	0.993	G
DTX1	1840	genome.wustl.edu	37	12	113531867	113531867	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:113531867G>T	ENST00000257600.3	+	5	1693	c.1190G>T	c.(1189-1191)cGa>cTa	p.R397L	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex 1, E3 ubiquitin ligase	397					cell surface receptor signaling pathway (GO:0007166)|glial cell differentiation (GO:0010001)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of T cell differentiation (GO:0045581)|Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)|regulation of Notch signaling pathway (GO:0008593)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|Notch binding (GO:0005112)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GATGTGGTTCGAAGATACATG	0.617																																																	0													30.0	26.0	27.0					12																	113531867		2199	4290	6489	SO:0001583	missense	1840			AF053700	CCDS9164.1	12q24	2014-01-28	2014-01-28			ENSG00000135144			3060	protein-coding gene	gene with protein product		602582	"""deltex homolog 1 (Drosophila)"""			9590294, 12670957	Standard	NM_004416		Approved	hDx-1	uc001tuk.1	Q86Y01	OTTHUMG00000169610	ENST00000257600.3:c.1190G>T	12.37:g.113531867G>T	ENSP00000257600:p.Arg397Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O60630|Q9BS04	Missense_Mutation	SNP	pfam_WWE-dom,smart_WWE-dom_subgr,smart_Znf_RING,pfscan_WWE-dom,pfscan_Znf_RING	p.R397L	ENST00000257600.3	37	c.1190	CCDS9164.1	12	.	.	.	.	.	.	.	.	.	.	G	15.92	2.974653	0.53720	.	.	ENSG00000135144	ENST00000257600	T	0.66638	-0.22	3.74	2.84	0.33178	.	0.208086	0.39834	N	0.001256	T	0.53850	0.1822	L	0.29908	0.895	0.41857	D	0.990209	B	0.24317	0.101	B	0.27796	0.083	T	0.55153	-0.8185	10	0.72032	D	0.01	-3.9242	10.7299	0.46089	0.1019:0.0:0.8981:0.0	.	397	Q86Y01	DTX1_HUMAN	L	397	ENSP00000257600:R397L	ENSP00000257600:R397L	R	+	2	0	DTX1	112016250	0.996000	0.38824	0.978000	0.43139	0.982000	0.71751	3.851000	0.55926	0.845000	0.35118	0.462000	0.41574	CGA	DTX1	-	NULL		0.617	DTX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DTX1	HGNC	protein_coding	OTTHUMT00000405045.2	G			113531867	+1	no_errors	ENST00000257600	ensembl	human	known	70_37	missense	SNP	0.903	T
DUOX1	53905	genome.wustl.edu	37	15	45433184	45433184	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:45433184G>A	ENST00000321429.4	+	14	1888	c.1481G>A	c.(1480-1482)gGa>gAa	p.G494E	DUOX1_ENST00000561166.1_Missense_Mutation_p.G140E|DUOX1_ENST00000389037.3_Missense_Mutation_p.G494E	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	494	Peroxidase-like; mediates peroxidase activity.				cuticle development (GO:0042335)|cytokine-mediated signaling pathway (GO:0019221)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide biosynthetic process (GO:0050665)|hydrogen peroxide catabolic process (GO:0042744)|oxidation-reduction process (GO:0055114)|response to cAMP (GO:0051591)|superoxide anion generation (GO:0042554)|thyroid hormone generation (GO:0006590)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|NAD(P)H oxidase activity (GO:0016174)|NADP binding (GO:0050661)|peroxidase activity (GO:0004601)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CGGGACCCTGGACCTCTGTTC	0.592																																																	0													107.0	103.0	105.0					15																	45433184		2198	4298	6496	SO:0001583	missense	53905			AF213465	CCDS32221.1	15q21	2013-01-10				ENSG00000137857		"""EF-hand domain containing"""	3062	protein-coding gene	gene with protein product	"""NADPH thyroid oxidase 1"", ""flavoprotein NADPH oxidase"", ""nicotinamide adenine dinucleotide phosphate oxidase"""	606758				10806195	Standard	XM_005254463		Approved	NOXEF1, THOX1, LNOX1	uc001zut.1	Q9NRD9		ENST00000321429.4:c.1481G>A	15.37:g.45433184G>A	ENSP00000317997:p.Gly494Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH28|Q14C94|Q6ZMB3|Q6ZR09|Q9NZC1	Nonsense_Mutation	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.W436*	ENST00000321429.4	37	c.1308	CCDS32221.1	15	.	.	.	.	.	.	.	.	.	.	G	26.8	4.774239	0.90108	.	.	ENSG00000137857	ENST00000431588;ENST00000321429;ENST00000389037	D;D	0.84800	-1.9;-1.9	4.46	4.46	0.54185	.	0.211084	0.49916	D	0.000133	D	0.94291	0.8166	H	0.95539	3.685	0.80722	D	1	D	0.67145	0.996	D	0.72625	0.978	D	0.95699	0.8747	10	0.87932	D	0	-16.884	14.9827	0.71321	0.0:0.0:1.0:0.0	.	494	Q9NRD9	DUOX1_HUMAN	E	494	ENSP00000317997:G494E;ENSP00000373689:G494E	ENSP00000317997:G494E	G	+	2	0	DUOX1	43220476	1.000000	0.71417	0.826000	0.32828	0.543000	0.35085	9.407000	0.97325	2.474000	0.83562	0.650000	0.86243	GGA	DUOX1	-	pfscan_Haem_peroxidase_animal		0.592	DUOX1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	DUOX1	HGNC	protein_coding	OTTHUMT00000416251.1	G	NM_017434		45433184	+1	no_errors	ENST00000561220	ensembl	human	known	70_37	nonsense	SNP	1.000	A
DYNAP	284254	genome.wustl.edu	37	18	52265085	52265085	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:52265085C>G	ENST00000321600.1	+	3	388	c.342C>G	c.(340-342)gtC>gtG	p.V114V	DYNAP_ENST00000585973.1_Silent_p.V62V	NM_173629.1	NP_775900.1	Q8N1N2	DYNAP_HUMAN	dynactin associated protein	114					activation of protein kinase B activity (GO:0032148)|cellular response to ergosterol (GO:1901625)|positive regulation of cell proliferation (GO:0008284)|regulation of apoptotic process (GO:0042981)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											TGTGGAAAGTCTTCCTGGCTT	0.353																																																	0													112.0	100.0	104.0					18																	52265085		2203	4300	6503	SO:0001819	synonymous_variant	284254			AK096425	CCDS11957.1	18q21.2	2012-10-24	2012-10-24	2012-10-24	ENSG00000178690	ENSG00000178690			26808	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 26"""	C18orf26		20978158	Standard	NM_173629		Approved	FLJ39106	uc002lfq.1	Q8N1N2	OTTHUMG00000132709	ENST00000321600.1:c.342C>G	18.37:g.52265085C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.V114	ENST00000321600.1	37	c.342	CCDS11957.1	18																																																																																			DYNAP	-	NULL		0.353	DYNAP-001	KNOWN	basic|CCDS	protein_coding	DYNAP	HGNC	protein_coding	OTTHUMT00000256007.1	C	NM_173629		52265085	+1	no_errors	ENST00000321600	ensembl	human	known	70_37	silent	SNP	0.942	G
DYNC1H1	1778	genome.wustl.edu	37	14	102474550	102474550	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:102474550G>A	ENST00000360184.4	+	29	6017	c.5853G>A	c.(5851-5853)gtG>gtA	p.V1951V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1951	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TTTGCCAGGTGGGTGCCTGGG	0.597																																																	0													71.0	69.0	70.0					14																	102474550		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.5853G>A	14.37:g.102474550G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.V1951	ENST00000360184.4	37	c.5853	CCDS9966.1	14																																																																																			DYNC1H1	-	smart_AAA+_ATPase		0.597	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102474550	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	1.000	A
DYNC1LI1	51143	genome.wustl.edu	37	3	32612168	32612168	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:32612168G>A	ENST00000273130.4	-	1	198	c.95C>T	c.(94-96)tCg>tTg	p.S32L	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.S32L	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	32					microtubule-based movement (GO:0007018)|mitotic nuclear division (GO:0007067)|positive regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090267)|transport (GO:0006810)|viral process (GO:0016032)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic dynein complex (GO:0005868)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ACCGTTGCCCGACGCTATCTC	0.677																																																	0													25.0	27.0	26.0					3																	32612168		2201	4297	6498	SO:0001583	missense	51143			AF078849	CCDS2654.1	3p23	2013-01-18	2005-11-25	2005-11-25	ENSG00000144635	ENSG00000144635		"""Cytoplasmic dyneins"""	18745	protein-coding gene	gene with protein product		615890	"""dynein, cytoplasmic, light intermediate polypeptide 1"""	DNCLI1		16260502	Standard	NM_016141		Approved		uc003cfb.4	Q9Y6G9	OTTHUMG00000130750	ENST00000273130.4:c.95C>T	3.37:g.32612168G>A	ENSP00000273130:p.Ser32Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRG7|Q53HC8|Q53HK7	Missense_Mutation	SNP	pfam_Dynein_light_int_chain	p.S32L	ENST00000273130.4	37	c.95	CCDS2654.1	3	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428690	0.83667	.	.	ENSG00000144635	ENST00000273130;ENST00000432458;ENST00000424991	T;T;T	0.46063	2.23;0.88;1.89	5.13	4.2	0.49525	.	0.819414	0.11279	N	0.580503	T	0.26846	0.0657	N	0.08118	0	0.21020	N	0.999803	B;B	0.23591	0.026;0.088	B;B	0.23275	0.027;0.045	T	0.16424	-1.0403	10	0.56958	D	0.05	-1.0908	13.5542	0.61749	0.0:0.1562:0.8437:0.0	.	32;32	E9PHI6;Q9Y6G9	.;DC1L1_HUMAN	L	32	ENSP00000273130:S32L;ENSP00000407279:S32L;ENSP00000409019:S32L	ENSP00000273130:S32L	S	-	2	0	DYNC1LI1	32587172	0.986000	0.35501	0.977000	0.42913	0.788000	0.44548	3.183000	0.50918	2.553000	0.86117	0.561000	0.74099	TCG	DYNC1LI1	-	NULL		0.677	DYNC1LI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1LI1	HGNC	protein_coding	OTTHUMT00000253250.1	G	NM_016141		32612168	-1	no_errors	ENST00000273130	ensembl	human	known	70_37	missense	SNP	0.921	A
DZIP3	9666	genome.wustl.edu	37	3	108351882	108351882	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:108351882C>T	ENST00000361582.3	+	9	1009	c.779C>T	c.(778-780)tCt>tTt	p.S260F	DZIP3_ENST00000463306.1_Missense_Mutation_p.S260F	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	260					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGTGAACGATCTTGTGAAGCT	0.264																																																	0													134.0	149.0	144.0					3																	108351882		2203	4288	6491	SO:0001583	missense	9666			AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.779C>T	3.37:g.108351882C>T	ENSP00000355028:p.Ser260Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S260F	ENST00000361582.3	37	c.779	CCDS2952.1	3	.	.	.	.	.	.	.	.	.	.	C	9.173	1.021557	0.19433	.	.	ENSG00000198919	ENST00000393969;ENST00000361582;ENST00000479138;ENST00000463306	T;T;T	0.51574	0.7;0.7;0.7	4.39	3.51	0.40186	.	0.141093	0.33199	N	0.005178	T	0.26846	0.0657	N	0.19112	0.55	0.28227	N	0.926266	B	0.11235	0.004	B	0.09377	0.004	T	0.17077	-1.0381	10	0.10377	T	0.69	-5.4196	8.3674	0.32395	0.0:0.8922:0.0:0.1078	.	260	Q86Y13	DZIP3_HUMAN	F	260	ENSP00000355028:S260F;ENSP00000418115:S260F;ENSP00000419981:S260F	ENSP00000355028:S260F	S	+	2	0	DZIP3	109834572	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.298000	0.51818	1.081000	0.41110	-0.189000	0.12847	TCT	DZIP3	-	NULL		0.264	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP3	HGNC	protein_coding	OTTHUMT00000353968.1	C	NM_014648		108351882	+1	no_errors	ENST00000361582	ensembl	human	known	70_37	missense	SNP	1.000	T
DZIP1L	199221	genome.wustl.edu	37	3	137787051	137787051	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:137787051G>C	ENST00000327532.2	-	13	2136	c.1774C>G	c.(1774-1776)Cca>Gca	p.P592A	DZIP1L_ENST00000488595.1_5'Flank	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	592					cilium assembly (GO:0042384)	ciliary basal body (GO:0036064)	metal ion binding (GO:0046872)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCGGGGCGTGGAGCGGGGGCG	0.697																																																	0													44.0	48.0	47.0					3																	137787051		2203	4300	6503	SO:0001583	missense	199221			AK057406	CCDS3096.1, CCDS54645.1	3q22.3	2013-05-22	2013-05-22		ENSG00000158163	ENSG00000158163			26551	protein-coding gene	gene with protein product			"""DAZ interacting protein 1-like"""			12477932	Standard	NM_173543		Approved	FLJ32844, DZIP2	uc003erq.3	Q8IYY4	OTTHUMG00000159819	ENST00000327532.2:c.1774C>G	3.37:g.137787051G>C	ENSP00000332148:p.Pro592Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JUG5|Q96M38	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.P592A	ENST00000327532.2	37	c.1774	CCDS3096.1	3	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816243	0.16607	.	.	ENSG00000158163	ENST00000327532	T	0.45276	0.9	4.91	4.03	0.46877	.	0.087771	0.48286	D	0.000193	T	0.37571	0.1008	L	0.59436	1.845	0.27423	N	0.954245	D	0.54397	0.966	P	0.46144	0.505	T	0.33574	-0.9863	10	0.05351	T	0.99	-4.3678	11.0821	0.48066	0.0:0.187:0.813:0.0	.	592	Q8IYY4	DZI1L_HUMAN	A	592	ENSP00000332148:P592A	ENSP00000332148:P592A	P	-	1	0	DZIP1L	139269741	0.499000	0.26083	0.047000	0.18901	0.013000	0.08279	1.694000	0.37752	1.263000	0.44181	-0.181000	0.13052	CCA	DZIP1L	-	NULL		0.697	DZIP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DZIP1L	HGNC	protein_coding	OTTHUMT00000357548.1	G	NM_173543		137787051	-1	no_errors	ENST00000327532	ensembl	human	known	70_37	missense	SNP	0.201	C
EDN2	1907	genome.wustl.edu	37	1	41949753	41949753	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:41949753G>A	ENST00000372587.4	-	2	255	c.186C>T	c.(184-186)ttC>ttT	p.F62F	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	62					artery smooth muscle contraction (GO:0014824)|calcium-mediated signaling (GO:0019722)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|energy homeostasis (GO:0097009)|hormonal regulation of the force of heart contraction (GO:0003058)|inositol phosphate-mediated signaling (GO:0048016)|lung alveolus development (GO:0048286)|macrophage activation (GO:0042116)|macrophage chemotaxis (GO:0048246)|neutrophil chemotaxis (GO:0030593)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of heart rate (GO:0010460)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of the force of heart contraction by chemical signal (GO:0003099)|prostaglandin biosynthetic process (GO:0001516)|regulation of systemic arterial blood pressure by endothelin (GO:0003100)|regulation of vasoconstriction (GO:0019229)|temperature homeostasis (GO:0001659)|vasoconstriction (GO:0042310)|vein smooth muscle contraction (GO:0014826)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	hormone activity (GO:0005179)			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCAAGTGGCAGAAGTAGACGC	0.617																																																	0													54.0	41.0	45.0					1																	41949753		2203	4300	6503	SO:0001819	synonymous_variant	1907			M65199	CCDS462.1	1p34	2013-02-26			ENSG00000127129	ENSG00000127129		"""Endogenous ligands"""	3177	protein-coding gene	gene with protein product		131241					Standard	NM_001956		Approved	ET2	uc009vwh.3	P20800	OTTHUMG00000006362	ENST00000372587.4:c.186C>T	1.37:g.41949753G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T1R3	Silent	SNP	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D	p.F62	ENST00000372587.4	37	c.186	CCDS462.1	1																																																																																			EDN2	-	pfam_Endothln-like_toxin,smart_Endothln-like_toxin,prints_Bibrotoxin/Sarafotoxin-D		0.617	EDN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDN2	HGNC	protein_coding	OTTHUMT00000016983.1	G	NM_001956		41949753	-1	no_errors	ENST00000372587	ensembl	human	known	70_37	silent	SNP	1.000	A
EDEM3	80267	genome.wustl.edu	37	1	184677335	184677335	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:184677335C>G	ENST00000318130.8	-	17	2255	c.1989G>C	c.(1987-1989)ttG>ttC	p.L663F	EDEM3_ENST00000367512.3_Missense_Mutation_p.L620F|EDEM3_ENST00000466392.1_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	663					cellular protein metabolic process (GO:0044267)|glycoprotein catabolic process (GO:0006516)|post-translational protein modification (GO:0043687)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|response to unfolded protein (GO:0006986)	endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|glycoprotein endo-alpha-1,2-mannosidase activity (GO:0004569)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTCCAGCAGTCAATACTACCC	0.378																																																	0													63.0	56.0	58.0					1																	184677335		2203	4300	6503	SO:0001583	missense	80267			AF288393	CCDS1363.2	1q25	2008-02-05	2006-03-31	2006-03-31	ENSG00000116406	ENSG00000116406			16787	protein-coding gene	gene with protein product		610214	"""chromosome 1 open reading frame 22"""	C1orf22		15537790, 15579471	Standard	NM_025191		Approved		uc010pok.2	Q9BZQ6	OTTHUMG00000035387	ENST00000318130.8:c.1989G>C	1.37:g.184677335C>G	ENSP00000318147:p.Leu663Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCH6|B7ZLZ2|Q0VGM5|Q5TEZ0|Q9HCW1|Q9UFV7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,pfam_Protease-assoc_domain,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.L663F	ENST00000318130.8	37	c.1989	CCDS1363.2	1	.	.	.	.	.	.	.	.	.	.	C	16.66	3.183664	0.57800	.	.	ENSG00000116406	ENST00000318130;ENST00000367512	T;T	0.74632	-0.86;-0.84	5.66	2.71	0.32032	.	0.000000	0.85682	D	0.000000	T	0.72391	0.3454	L	0.52364	1.645	0.80722	D	1	P	0.46142	0.873	P	0.49387	0.609	T	0.68315	-0.5441	10	0.46703	T	0.11	.	8.7978	0.34890	0.0:0.6121:0.0:0.3879	.	663	Q9BZQ6	EDEM3_HUMAN	F	663;620	ENSP00000318147:L663F;ENSP00000356482:L620F	ENSP00000318147:L663F	L	-	3	2	EDEM3	182943958	1.000000	0.71417	0.983000	0.44433	0.999000	0.98932	1.691000	0.37721	0.287000	0.22375	0.655000	0.94253	TTG	EDEM3	-	NULL		0.378	EDEM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDEM3	HGNC	protein_coding	OTTHUMT00000085785.3	C	NM_025191		184677335	-1	no_errors	ENST00000318130	ensembl	human	known	70_37	missense	SNP	1.000	G
EEF1A1	1915	genome.wustl.edu	37	6	74228906	74228906	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:74228906C>G	ENST00000316292.9	-	3	1361	c.370G>C	c.(370-372)Gaa>Caa	p.E124Q	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000309268.6_Missense_Mutation_p.E124Q|EEF1A1_ENST00000331523.2_Missense_Mutation_p.E124Q	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	124	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ATACCAGCTTCAAATTCACCA	0.453											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													25.0	28.0	27.0					6																	74228906		2124	4264	6388	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.370G>C	6.37:g.74228906C>G	ENSP00000339063:p.Glu124Gln	Somatic	1151	WXS	Illumina HiSeq	Phase_IV	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.E124Q	ENST00000316292.9	37	c.370	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	C	13.68	2.309937	0.40895	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000356303	T;T;T;T	0.47177	0.85;0.85;0.85;0.85	4.43	4.43	0.53597	Protein synthesis factor, GTP-binding (2);	0.000000	0.85682	U	0.000000	T	0.45196	0.1330	M	0.70787	2.145	0.80722	D	1	P;P;P;P	0.35542	0.508;0.508;0.508;0.508	B;B;B;B	0.41374	0.355;0.355;0.355;0.355	T	0.57242	-0.7845	10	0.87932	D	0	.	17.4834	0.87680	0.0:1.0:0.0:0.0	.	124;124;124;124	P68104;Q53HR5;Q6IPS9;Q5VTE0	EF1A1_HUMAN;.;.;EF1A3_HUMAN	Q	124	ENSP00000339063:E124Q;ENSP00000339053:E124Q;ENSP00000330054:E124Q;ENSP00000348651:E124Q	ENSP00000339053:E124Q	E	-	1	0	EEF1A1	74285627	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.495000	0.81514	2.176000	0.68965	0.549000	0.68633	GAA	EEF1A1	-	pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.453	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	C	NM_001402		74228906	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	missense	SNP	1.000	G
EEF1A1	1915	genome.wustl.edu	37	6	74229171	74229171	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:74229171G>C	ENST00000316292.9	-	2	1204	c.213C>G	c.(211-213)atC>atG	p.I71M	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.I71M|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I71M	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	71	G2. {ECO:0000250}.|tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TATCAATGGTGATACCACGTT	0.423											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													74.0	84.0	81.0					6																	74229171		2201	4287	6488	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.213C>G	6.37:g.74229171G>C	ENSP00000339063:p.Ile71Met	Somatic	1151	WXS	Illumina HiSeq	Phase_IV	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.I71M	ENST00000316292.9	37	c.213	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	g	10.33	1.321343	0.23994	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.77358	-1.09;-1.09;-1.09;-1.09;-1.09	3.97	2.17	0.27698	Protein synthesis factor, GTP-binding (6);	0.000000	0.64402	U	0.000001	T	0.80003	0.4544	M	0.79475	2.455	0.58432	D	0.999999	B;P;P;P;P	0.46578	0.152;0.88;0.88;0.88;0.88	B;P;P;P;P	0.59703	0.376;0.862;0.862;0.862;0.862	T	0.81147	-0.1065	10	0.87932	D	0	.	9.7014	0.40189	0.239:0.0:0.761:0.0	.	71;71;71;71;71	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	M	71	ENSP00000339063:I71M;ENSP00000339053:I71M;ENSP00000330054:I71M;ENSP00000348651:I71M;ENSP00000392366:I71M	ENSP00000339053:I71M	I	-	3	3	EEF1A1	74285892	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.028000	0.41088	0.458000	0.26988	-0.226000	0.12346	ATC	EEF1A1	-	pfam_EF_GTP-bd_dom,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.423	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	G	NM_001402		74229171	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	missense	SNP	1.000	C
EEF1A1	1915	genome.wustl.edu	37	6	74229671	74229671	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:74229671G>C	ENST00000316292.9	-	1	1070	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	EEF1A1_ENST00000491404.1_5'Flank|EEF1A1_ENST00000309268.6_Missense_Mutation_p.L27V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.L27V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	27	tr-type G.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational elongation (GO:0006414)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|eukaryotic translation elongation factor 1 complex (GO:0005853)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|translation elongation factor activity (GO:0003746)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTATAGATCAGATGGCCAGTA	0.413																																																	0													76.0	78.0	77.0					6																	74229671		2202	4296	6498	SO:0001583	missense	1915			BC019669	CCDS4980.1	6q14.1	2010-06-30	2004-11-19		ENSG00000156508	ENSG00000156508			3189	protein-coding gene	gene with protein product		130590	"""leukocyte receptor cluster (LRC) member 7"""	EF1A, EEF1A, LENG7		8812466, 10941842	Standard	NM_001402		Approved	EE1A1	uc003phj.3	P68104	OTTHUMG00000015031	ENST00000316292.9:c.79C>G	6.37:g.74229671G>C	ENSP00000339063:p.Leu27Val	Somatic		WXS	Illumina HiSeq	Phase_IV	P04719|P04720|Q6IQ15	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc	p.L27V	ENST00000316292.9	37	c.79	CCDS4980.1	6	.	.	.	.	.	.	.	.	.	.	G	15.16	2.751985	0.49362	.	.	ENSG00000156508	ENST00000316292;ENST00000358190;ENST00000309268;ENST00000331523;ENST00000391977;ENST00000456206;ENST00000356303;ENST00000455918	T;T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24;-0.24	4.15	2.35	0.29111	Protein synthesis factor, GTP-binding (2);	0.000000	0.64402	U	0.000007	T	0.75810	0.3900	M	0.89414	3.03	0.80722	D	1	P;P;P;P;P	0.52692	0.729;0.955;0.955;0.955;0.955	P;D;D;D;D	0.64595	0.576;0.927;0.927;0.927;0.927	T	0.79067	-0.1955	10	0.87932	D	0	.	10.1842	0.42986	0.1634:0.0:0.8366:0.0	.	27;27;27;27;27	A6PW80;P68104;Q53HR5;Q6IPS9;Q5VTE0	.;EF1A1_HUMAN;.;.;EF1A3_HUMAN	V	27	ENSP00000339063:L27V;ENSP00000339053:L27V;ENSP00000330054:L27V;ENSP00000348651:L27V;ENSP00000392366:L27V	ENSP00000339053:L27V	L	-	1	2	EEF1A1	74286392	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	6.388000	0.73195	0.515000	0.28320	0.555000	0.69702	CTG	EEF1A1	-	pfam_EF_GTP-bd_dom,tigrfam_Transl_elong_EF1A_euk/arc		0.413	EEF1A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EEF1A1	HGNC	protein_coding	OTTHUMT00000041210.2	G	NM_001402		74229671	-1	no_errors	ENST00000309268	ensembl	human	known	70_37	missense	SNP	1.000	C
EFCAB10	100130771	genome.wustl.edu	37	7	105209661	105209661	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:105209661G>A	ENST00000480514.1	-	3	384	c.348C>T	c.(346-348)ttC>ttT	p.F116F	EFCAB10_ENST00000460135.1_Silent_p.F61F|EFCAB10_ENST00000490493.1_5'UTR|RP11-251G23.5_ENST00000609827.1_RNA|EFCAB10_ENST00000486180.1_Silent_p.F116F|EFCAB10_ENST00000485614.1_Silent_p.F116F			A6NFE3	EFC10_HUMAN	EF-hand calcium binding domain 10	116							calcium ion binding (GO:0005509)										CTTCCTCCTTGAATTTATCCA	0.303																																																	0																																										SO:0001819	synonymous_variant	100130771			BC105284		7q22.2	2013-01-29			ENSG00000185055	ENSG00000185055		"""EF-hand domain containing"""	34531	protein-coding gene	gene with protein product							Standard	NR_027068		Approved		uc003vdc.4	A6NFE3	OTTHUMG00000157397	ENST00000480514.1:c.348C>T	7.37:g.105209661G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	superfamily_cAMP_dep_PK_reg_su_I/II_a/b,pfscan_EF_HAND_2	p.F116	ENST00000480514.1	37	c.348		7																																																																																			EFCAB10	-	NULL		0.303	EFCAB10-001	KNOWN	basic|appris_candidate	protein_coding	EFCAB10	HGNC	protein_coding	OTTHUMT00000348673.1	G			105209661	-1	no_errors	ENST00000480514	ensembl	human	known	70_37	silent	SNP	0.985	A
CRACR2A	84766	genome.wustl.edu	37	12	3763514	3763514	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:3763514C>A	ENST00000252322.1	-	10	1378	c.910G>T	c.(910-912)Gag>Tag	p.E304*	EFCAB4B_ENST00000444507.1_Nonsense_Mutation_p.E304*|EFCAB4B_ENST00000440314.2_Nonsense_Mutation_p.E304*	NM_032680.3	NP_116069.1	Q9BSW2	EFC4B_HUMAN		304					activation of store-operated calcium channel activity (GO:0032237)|immune system process (GO:0002376)|positive regulation of calcium ion transport (GO:0051928)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGTATTCTCAGCCTTGGTC	0.562																																																	0													70.0	63.0	66.0					12																	3763514		2203	4300	6503	SO:0001587	stop_gained	84766																														ENST00000252322.1:c.910G>T	12.37:g.3763514C>A	ENSP00000252322:p.Glu304*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1X0|B9EK63	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_EF_hand_Ca-bd,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,pfscan_EF_HAND_2,tigrfam_Small_GTP-bd_dom	p.E304*	ENST00000252322.1	37	c.910	CCDS8522.1	12	.	.	.	.	.	.	.	.	.	.	C	36	5.811659	0.96975	.	.	ENSG00000130038	ENST00000440314;ENST00000444507;ENST00000252322	.	.	.	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-13.5131	14.2367	0.65932	0.0:1.0:0.0:0.0	.	.	.	.	X	304	.	ENSP00000252322:E304X	E	-	1	0	EFCAB4B	3633775	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	5.142000	0.64820	2.206000	0.71126	0.455000	0.32223	GAG	EFCAB4B	-	NULL		0.562	EFCAB4B-005	KNOWN	basic|CCDS	protein_coding	EFCAB4B	HGNC	protein_coding	OTTHUMT00000398673.1	C			3763514	-1	no_errors	ENST00000440314	ensembl	human	known	70_37	nonsense	SNP	1.000	A
EGFLAM	133584	genome.wustl.edu	37	5	38412643	38412643	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:38412643G>A	ENST00000354891.3	+	11	1733	c.1387G>A	c.(1387-1389)Gag>Aag	p.E463K	EGFLAM_ENST00000397202.2_5'UTR|EGFLAM_ENST00000336740.6_Missense_Mutation_p.E229K|EGFLAM_ENST00000322350.5_Missense_Mutation_p.E463K	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	463	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CATCGTAAGTGAGACCAAAAT	0.488																																					Colon(62;485 1295 3347 17454)												0													108.0	105.0	106.0					5																	38412643		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1387G>A	5.37:g.38412643G>A	ENSP00000346964:p.Glu463Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.E463K	ENST00000354891.3	37	c.1387	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	G	16.78	3.218152	0.58560	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000339580	T;T;T	0.79454	-1.27;-1.27;-1.27	6.07	5.2	0.72013	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.198155	0.52532	N	0.000061	T	0.69278	0.3093	L	0.31845	0.965	0.80722	D	1	B;P;B	0.35575	0.374;0.51;0.409	B;B;B	0.35182	0.1;0.174;0.197	T	0.68424	-0.5412	10	0.36615	T	0.2	.	15.2986	0.73928	0.0667:0.0:0.9333:0.0	.	229;463;463	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	K	463;463;229;229	ENSP00000346964:E463K;ENSP00000313084:E463K;ENSP00000337607:E229K	ENSP00000313084:E463K	E	+	1	0	EGFLAM	38448400	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	4.359000	0.59449	1.589000	0.49982	0.650000	0.86243	GAG	EGFLAM	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.488	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	G	NM_152403		38412643	+1	no_errors	ENST00000354891	ensembl	human	known	70_37	missense	SNP	1.000	A
EGFLAM	133584	genome.wustl.edu	37	5	38427292	38427292	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:38427292C>G	ENST00000354891.3	+	14	2338	c.1992C>G	c.(1990-1992)atC>atG	p.I664M	EGFLAM-AS1_ENST00000508986.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.I30M|EGFLAM_ENST00000336740.6_Missense_Mutation_p.I430M|EGFLAM_ENST00000322350.5_Missense_Mutation_p.I664M	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	664	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TCCTGTCCATCAACTTGGCAG	0.522																																					Colon(62;485 1295 3347 17454)												0													150.0	151.0	150.0					5																	38427292		2203	4300	6503	SO:0001583	missense	133584			AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.1992C>G	5.37:g.38427292C>G	ENSP00000346964:p.Ile664Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Fibronectin_type3,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Laminin_G	p.I664M	ENST00000354891.3	37	c.1992	CCDS56363.1	5	.	.	.	.	.	.	.	.	.	.	C	17.02	3.281842	0.59758	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580	T;T;T;T	0.81078	-0.57;-0.57;-0.57;-1.45	5.76	4.88	0.63580	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.100948	0.64402	D	0.000002	D	0.88463	0.6443	M	0.87180	2.865	0.80722	D	1	P;D;P	0.53745	0.889;0.962;0.921	P;P;P	0.60789	0.718;0.879;0.747	D	0.89220	0.3570	10	0.72032	D	0.01	7.3945	9.3373	0.38058	0.0:0.7349:0.0:0.2651	.	430;664;664	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	M	664;664;430;30;430	ENSP00000346964:I664M;ENSP00000313084:I664M;ENSP00000337607:I430M;ENSP00000380385:I30M	ENSP00000313084:I664M	I	+	3	3	EGFLAM	38463049	0.994000	0.37717	0.993000	0.49108	0.954000	0.61252	0.361000	0.20267	1.414000	0.47017	0.655000	0.94253	ATC	EGFLAM	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.522	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	EGFLAM	HGNC	protein_coding	OTTHUMT00000367323.1	C	NM_152403		38427292	+1	no_errors	ENST00000354891	ensembl	human	known	70_37	missense	SNP	1.000	G
EGFR	1956	genome.wustl.edu	37	7	55238200	55238200	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:55238200C>G	ENST00000275493.2	+	16	2057				EGFR_ENST00000455089.1_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000344576.2_Missense_Mutation_p.S694C|EGFR_ENST00000454757.2_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor						activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GCCTGGCCTTCTGCATCTGTG	0.597		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																													yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0													135.0	113.0	120.0					7																	55238200		2203	4300	6503	SO:0001627	intron_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1881-668C>G	7.37:g.55238200C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat	p.S694C	ENST00000275493.2	37	c.2081	CCDS5514.1	7	.	.	.	.	.	.	.	.	.	.	C	8.630	0.893478	0.17613	.	.	ENSG00000146648	ENST00000344576	T	0.81247	-1.47	2.98	1.16	0.20824	.	.	.	.	.	T	0.63988	0.2558	N	0.08118	0	0.09310	N	1	P	0.42620	0.785	B	0.43950	0.437	T	0.56763	-0.7925	9	0.87932	D	0	.	5.0916	0.14711	0.0:0.7156:0.0:0.2844	.	694	P00533-3	.	C	694	ENSP00000345973:S694C	ENSP00000345973:S694C	S	+	2	0	EGFR	55205694	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.121000	0.15667	0.312000	0.23038	-0.253000	0.11424	TCT	EGFR	-	NULL		0.597	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGFR	HGNC	protein_coding	OTTHUMT00000251456.2	C	NM_005228		55238200	+1	no_errors	ENST00000344576	ensembl	human	known	70_37	missense	SNP	0.000	G
EHMT1	79813	genome.wustl.edu	37	9	140611105	140611105	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:140611105C>T	ENST00000460843.1	+	3	140	c.113C>T	c.(112-114)tCa>tTa	p.S38L	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Missense_Mutation_p.S7L|EHMT1_ENST00000462484.1_Missense_Mutation_p.S38L	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	38					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GATGAAGGCTCAGCAGAGAAA	0.562																																																	0													73.0	76.0	75.0					9																	140611105		2203	4298	6501	SO:0001583	missense	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.113C>T	9.37:g.140611105C>T	ENSP00000417980:p.Ser38Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.S38L	ENST00000460843.1	37	c.113	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	c	12.71	2.019114	0.35606	.	.	ENSG00000181090	ENST00000334856;ENST00000371400;ENST00000462484;ENST00000460843	T;T;T	0.70045	1.52;0.88;-0.45	5.41	3.58	0.41010	.	0.330121	0.26304	N	0.025159	T	0.56307	0.1976	L	0.46157	1.445	0.24399	N	0.994714	B;B;B	0.09022	0.0;0.002;0.002	B;B;B	0.11329	0.0;0.006;0.006	T	0.46789	-0.9166	10	0.34782	T	0.22	.	9.0877	0.36592	0.0:0.7783:0.0:0.2217	.	38;7;38	Q9H9B1;Q9H9B1-2;Q9H9B1-4	EHMT1_HUMAN;.;.	L	7;7;38;38	ENSP00000334476:S7L;ENSP00000417328:S38L;ENSP00000417980:S38L	ENSP00000334476:S7L	S	+	2	0	EHMT1	139730926	0.315000	0.24571	0.529000	0.27951	0.963000	0.63663	0.744000	0.26245	0.681000	0.31386	0.546000	0.68486	TCA	EHMT1	-	NULL		0.562	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	C	NM_024757		140611105	+1	no_errors	ENST00000460843	ensembl	human	known	70_37	missense	SNP	0.750	T
EIF2AK1	27102	genome.wustl.edu	37	7	6068648	6068648	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:6068648G>A	ENST00000199389.6	-	12	1494	c.1348C>T	c.(1348-1350)Ctt>Ttt	p.L450F	EIF2AK1_ENST00000536084.1_Missense_Mutation_p.L326F|ANKRD61_ENST00000409061.1_5'Flank	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	450	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of cell proliferation (GO:0008285)|negative regulation of hemoglobin biosynthetic process (GO:0046986)|negative regulation of translational initiation by iron (GO:0045993)|protein autophosphorylation (GO:0046777)|protoporphyrinogen IX metabolic process (GO:0046501)|regulation of eIF2 alpha phosphorylation by heme (GO:0010999)|response to external stimulus (GO:0009605)|response to stress (GO:0006950)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|heme binding (GO:0020037)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		GGGCCATGAAGAAAAATATTT	0.378																																																	0													71.0	69.0	70.0					7																	6068648		2203	4300	6503	SO:0001583	missense	27102			BC006524	CCDS5345.1	7p22	2005-01-20			ENSG00000086232	ENSG00000086232			24921	protein-coding gene	gene with protein product	"""heme regulated initiation factor 2 alpha kinase"""	613635				7709427, 10718198	Standard	NM_014413		Approved	HRI, KIAA1369	uc003spp.3	Q9BQI3	OTTHUMG00000090689	ENST00000199389.6:c.1348C>T	7.37:g.6068648G>A	ENSP00000199389:p.Leu450Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R2|Q549K6|Q8NBW3|Q9HC02|Q9NYE0|Q9P0V6|Q9P1J5|Q9P2H8|Q9UHG4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L450F	ENST00000199389.6	37	c.1348	CCDS5345.1	7	.	.	.	.	.	.	.	.	.	.	G	16.44	3.123392	0.56613	.	.	ENSG00000086232	ENST00000199389;ENST00000536084;ENST00000426957	T;T	0.70399	-0.48;-0.48	4.79	4.79	0.61399	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	T	0.77089	0.4079	L	0.59967	1.855	0.54753	D	0.999987	D;D;P	0.76494	0.998;0.999;0.929	D;D;P	0.70935	0.971;0.956;0.719	T	0.72944	-0.4138	10	0.19147	T	0.46	-15.8865	9.7769	0.40626	0.16:0.0:0.84:0.0	.	326;449;450	B4DIP4;Q9BQI3-2;Q9BQI3	.;.;E2AK1_HUMAN	F	450;326;77	ENSP00000199389:L450F;ENSP00000445784:L326F	ENSP00000199389:L450F	L	-	1	0	EIF2AK1	6035174	1.000000	0.71417	0.999000	0.59377	0.991000	0.79684	5.242000	0.65389	2.213000	0.71641	0.555000	0.69702	CTT	EIF2AK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.378	EIF2AK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK1	HGNC	protein_coding	OTTHUMT00000207373.2	G	NM_014413		6068648	-1	no_errors	ENST00000199389	ensembl	human	known	70_37	missense	SNP	1.000	A
EIF2AK2	5610	genome.wustl.edu	37	2	37365460	37365460	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:37365460C>G	ENST00000233057.4	-	8	962	c.640G>C	c.(640-642)Gag>Cag	p.E214Q	EIF2AK2_ENST00000395127.2_Missense_Mutation_p.E214Q|EIF2AK2_ENST00000405334.1_Missense_Mutation_p.E214Q	NM_001135651.2	NP_001129123.1	P19525	E2AK2_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 2	214					activation of MAPKK activity (GO:0000186)|defense response to virus (GO:0051607)|endoplasmic reticulum unfolded protein response (GO:0030968)|evasion or tolerance by virus of host immune response (GO:0030683)|innate immune response (GO:0045087)|modulation by virus of host morphology or physiology (GO:0019048)|modulation by virus of host process (GO:0019054)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production (GO:0001819)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of hematopoietic progenitor cell differentiation (GO:1901532)|regulation of hematopoietic stem cell differentiation (GO:1902036)|regulation of hematopoietic stem cell proliferation (GO:1902033)|regulation of NLRP3 inflammasome complex assembly (GO:1900225)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|viral life cycle (GO:0019058)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|eukaryotic translation initiation factor 2alpha kinase activity (GO:0004694)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				GAATTTATCTCTGATGTATCT	0.338																																																	0													116.0	120.0	118.0					2																	37365460		2203	4300	6503	SO:0001583	missense	5610			BC057805	CCDS1786.1, CCDS46259.1	2p22-p21	2014-06-12	2005-01-19	2005-01-19	ENSG00000055332	ENSG00000055332			9437	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 83"""	176871	"""protein kinase, interferon-inducible double stranded RNA dependent"""	PRKR		1351683	Standard	NM_001135651		Approved	PKR, EIF2AK1, PPP1R83	uc010fac.3	P19525	OTTHUMG00000100962	ENST00000233057.4:c.640G>C	2.37:g.37365460C>G	ENSP00000233057:p.Glu214Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3P0|D6W584|E9PC80|Q52M43|Q7Z6F6|Q9UIR4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ds-RNA-bd,superfamily_Kinase-like_dom,smart_Ds-RNA-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ds-RNA-bd,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E214Q	ENST00000233057.4	37	c.640	CCDS1786.1	2	.	.	.	.	.	.	.	.	.	.	C	7.075	0.569079	0.13560	.	.	ENSG00000055332	ENST00000233057;ENST00000395127;ENST00000405334;ENST00000379156	T;T;T	0.76060	-0.93;-0.93;-0.99	2.93	-1.28	0.09318	.	1.443390	0.04561	N	0.391600	T	0.65471	0.2694	L	0.54908	1.71	0.09310	N	1	B;B;B;B	0.16396	0.009;0.009;0.017;0.004	B;B;B;B	0.19148	0.022;0.016;0.024;0.007	T	0.49643	-0.8918	10	0.62326	D	0.03	0.362	0.5756	0.00703	0.1975:0.3709:0.1937:0.238	.	214;214;214;214	Q8IW76;B7ZKK7;P19525;E9PC80	.;.;E2AK2_HUMAN;.	Q	214	ENSP00000233057:E214Q;ENSP00000378559:E214Q;ENSP00000385014:E214Q	ENSP00000233057:E214Q	E	-	1	0	EIF2AK2	37218964	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.109000	0.15417	-0.322000	0.08615	-0.484000	0.04775	GAG	EIF2AK2	-	NULL		0.338	EIF2AK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2AK2	HGNC	protein_coding	OTTHUMT00000218571.2	C	NM_002759		37365460	-1	no_errors	ENST00000233057	ensembl	human	known	70_37	missense	SNP	0.000	G
AGO2	27161	genome.wustl.edu	37	8	141566014	141566014	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:141566014G>T	ENST00000220592.5	-	10	1362	c.1250C>A	c.(1249-1251)tCc>tAc	p.S417Y	AGO2_ENST00000519980.1_Missense_Mutation_p.S417Y	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	417					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										GTAGAGGATGGAGGGCGGCTG	0.602																																																	0													59.0	54.0	56.0					8																	141566014		2203	4300	6503	SO:0001583	missense	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.1250C>A	8.37:g.141566014G>T	ENSP00000220592:p.Ser417Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCZ5|Q8WV58|Q96ID1	Missense_Mutation	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.S417Y	ENST00000220592.5	37	c.1250	CCDS6380.1	8	.	.	.	.	.	.	.	.	.	.	G	17.66	3.444088	0.63067	.	.	ENSG00000123908	ENST00000220592;ENST00000519980	T;T	0.05199	3.48;3.48	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.08935	0.0221	L	0.36672	1.1	0.80722	D	1	P;P	0.40282	0.711;0.587	B;B	0.42282	0.382;0.308	T	0.39461	-0.9613	10	0.19590	T	0.45	-16.1301	19.6058	0.95582	0.0:0.0:1.0:0.0	.	417;417	Q9UKV8-2;Q9UKV8	.;AGO2_HUMAN	Y	417	ENSP00000220592:S417Y;ENSP00000430176:S417Y	ENSP00000220592:S417Y	S	-	2	0	EIF2C2	141635196	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.052000	0.57420	2.722000	0.93159	0.655000	0.94253	TCC	EIF2C2	-	NULL		0.602	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	G			141566014	-1	no_errors	ENST00000220592	ensembl	human	known	70_37	missense	SNP	1.000	T
AGO2	27161	genome.wustl.edu	37	8	141572715	141572715	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:141572715G>A	ENST00000220592.5	-	4	467	c.355C>T	c.(355-357)Ctg>Ttg	p.L119L	AGO2_ENST00000519980.1_Silent_p.L119L	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	119					epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										TCTCCTGGCAGCGTGACCTCC	0.612																																																	0													168.0	126.0	140.0					8																	141572715		2203	4300	6503	SO:0001819	synonymous_variant	27161			AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.355C>T	8.37:g.141572715G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	pfam_Piwi,pfam_PAZ,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ,smart_PAZ,smart_Piwi,pfscan_PAZ,pfscan_Piwi	p.L119	ENST00000220592.5	37	c.355	CCDS6380.1	8																																																																																			EIF2C2	-	superfamily_PAZ		0.612	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF2C2	HGNC	protein_coding	OTTHUMT00000377866.4	G			141572715	-1	no_errors	ENST00000220592	ensembl	human	known	70_37	silent	SNP	0.303	A
EIF4E3	317649	genome.wustl.edu	37	3	71748779	71748779	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:71748779C>G	ENST00000425534.3	-	3	337	c.330G>C	c.(328-330)gaG>gaC	p.E110D	EIF4E3_ENST00000448225.1_Missense_Mutation_p.E4D|EIF4E3_ENST00000468147.1_Intron|EIF4E3_ENST00000421769.2_Missense_Mutation_p.E4D|EIF4E3_ENST00000389826.3_Missense_Mutation_p.E4D|EIF4E3_ENST00000295612.3_Missense_Mutation_p.E4D	NM_001134651.1	NP_001128123.1	Q8N5X7	IF4E3_HUMAN	eukaryotic translation initiation factor 4E family member 3	110					cytokine-mediated signaling pathway (GO:0019221)|regulation of translation (GO:0006417)	cytosol (GO:0005829)|mRNA cap binding complex (GO:0005845)	translation initiation factor activity (GO:0003743)			large_intestine(1)|lung(3)	4		Prostate(10;0.0166)		BRCA - Breast invasive adenocarcinoma(55;2.56e-05)|Epithelial(33;2.9e-05)|Lung(16;9.28e-05)|LUSC - Lung squamous cell carcinoma(21;0.00227)		GTGGTCGCCTCTCTCCTCTCA	0.373																																																	0													174.0	173.0	173.0					3																	71748779		2203	4300	6503	SO:0001583	missense	317649			AK126999	CCDS33786.1, CCDS46867.1	3p14	2008-02-05	2006-11-13		ENSG00000163412	ENSG00000163412			31837	protein-coding gene	gene with protein product		609896	"""eukaryotic translation initiation factor 4E member 3"""			15153109	Standard	NM_173359		Approved	MGC39820	uc003dov.4	Q8N5X7	OTTHUMG00000158797	ENST00000425534.3:c.330G>C	3.37:g.71748779C>G	ENSP00000393324:p.Glu110Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R963|Q6NUT1	Missense_Mutation	SNP	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom	p.E110D	ENST00000425534.3	37	c.330	CCDS46867.1	3	.	.	.	.	.	.	.	.	.	.	C	13.24	2.179402	0.38511	.	.	ENSG00000163412	ENST00000425534;ENST00000448225;ENST00000389826;ENST00000295612;ENST00000421769;ENST00000497838;ENST00000496214;ENST00000469524	T;T;T;T;T;T;T;T	0.39997	1.05;1.05;1.05;1.05;1.05;1.05;1.05;1.05	5.52	5.52	0.82312	Translation Initiation factor eIF- 4e-like  domain (2);	0.000000	0.85682	D	0.000000	T	0.25938	0.0632	N	0.14661	0.345	0.53688	D	0.999976	P	0.34724	0.465	B	0.33568	0.166	T	0.08638	-1.0712	10	0.42905	T	0.14	-10.2898	10.5485	0.45074	0.0:0.8827:0.0:0.1173	.	110	Q8N5X7	IF4E3_HUMAN	D	110;4;4;4;4;4;4;4	ENSP00000393324:E110D;ENSP00000410350:E4D;ENSP00000374476:E4D;ENSP00000295612:E4D;ENSP00000411762:E4D;ENSP00000418211:E4D;ENSP00000417889:E4D;ENSP00000419421:E4D	ENSP00000295612:E4D	E	-	3	2	EIF4E3	71831469	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	2.576000	0.46033	2.608000	0.88229	0.491000	0.48974	GAG	EIF4E3	-	pfam_TIF_eIF_4E,superfamily_TIF_eIF4e-like_dom		0.373	EIF4E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4E3	HGNC	protein_coding	OTTHUMT00000352294.2	C	NM_173359		71748779	-1	no_errors	ENST00000425534	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF4A2	1974	genome.wustl.edu	37	3	186504951	186504951	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:186504951G>A	ENST00000323963.5	+	8	871	c.807G>A	c.(805-807)gaG>gaA	p.E269E	EIF4A2_ENST00000440191.2_Silent_p.E270E|SNORD2_ENST00000459163.1_RNA|EIF4A2_ENST00000356531.5_Silent_p.E174E|SNORA63_ENST00000363548.1_RNA|SNORA63_ENST00000363450.1_RNA|SNORA81_ENST00000408493.2_RNA|SNORA4_ENST00000584302.1_RNA|RP11-573D15.9_ENST00000577781.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	269	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				cellular protein metabolic process (GO:0044267)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|translation initiation factor activity (GO:0003743)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		ACTTGTACGAGACACTGACCA	0.398			T	BCL6	NHL																																			Dom	yes		3	3q27.3	1974	"""eukaryotic translation initiation factor 4A, isoform 2"""		L	0													118.0	118.0	118.0					3																	186504951		2203	4300	6503	SO:0001819	synonymous_variant	1974			D30655	CCDS3282.1	3q28	2012-02-23	2010-02-10		ENSG00000156976	ENSG00000156976	3.6.1.1	"""DEAD-boxes"""	3284	protein-coding gene	gene with protein product		601102	"""eukaryotic translation initiation factor 4A, isoform 2"""	EIF4F		8521730	Standard	NM_001967		Approved	DDX2B, EIF4A, BM-010	uc003fqs.3	Q14240	OTTHUMG00000156564	ENST00000323963.5:c.807G>A	3.37:g.186504951G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNU9|Q53XJ6|Q96B90|Q96EA8	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.E270	ENST00000323963.5	37	c.810	CCDS3282.1	3																																																																																			EIF4A2	-	pfscan_Helicase_C		0.398	EIF4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF4A2	HGNC	protein_coding	OTTHUMT00000344609.1	G	NM_001967		186504951	+1	no_errors	ENST00000440191	ensembl	human	known	70_37	silent	SNP	1.000	A
EIF4G3	8672	genome.wustl.edu	37	1	21175959	21175959	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:21175959C>G	ENST00000264211.8	-	23	3863	c.3669G>C	c.(3667-3669)gaG>gaC	p.E1223D	EIF4G3_ENST00000537738.1_Missense_Mutation_p.E713D|EIF4G3_ENST00000602326.1_Missense_Mutation_p.E1229D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.E943D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.E827D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.E1229D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.E1223D	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1223	MI. {ECO:0000255|PROSITE- ProRule:PRU00698}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TCGACTTCCTCTCCAGTTCCT	0.338																																																	0													92.0	86.0	88.0					1																	21175959		2203	4300	6503	SO:0001583	missense	8672			AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.3669G>C	1.37:g.21175959C>G	ENSP00000264211:p.Glu1223Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Initiation_fac_eIF4g_MI,pfam_W2_domain,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3,smart_Initiation_fac_eIF4g_MI,smart_W2_domain	p.E1229D	ENST00000264211.8	37	c.3687	CCDS214.1	1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485427	0.84854	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.32023	1.47;1.47;1.47;1.47;1.47;1.47	5.87	3.85	0.44370	Initiation factor eIF-4 gamma, MA3 (3);Armadillo-type fold (1);	0.120083	0.64402	D	0.000009	T	0.46698	0.1406	L	0.43554	1.36	0.80722	D	1	D;P;P;P;D	0.67145	0.996;0.895;0.924;0.651;0.981	D;P;P;B;P	0.76071	0.987;0.721;0.612;0.344;0.747	T	0.38373	-0.9664	10	0.52906	T	0.07	-7.769	14.3302	0.66550	0.0:0.9116:0.0:0.0884	.	1418;943;827;1229;1223	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	D	1223;1419;1223;943;713;1229;827	ENSP00000264211:E1223D;ENSP00000383274:E1223D;ENSP00000364071:E943D;ENSP00000442010:E713D;ENSP00000364073:E1229D;ENSP00000444693:E827D	ENSP00000264211:E1223D	E	-	3	2	EIF4G3	21048546	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.820000	0.39032	0.750000	0.32877	0.655000	0.94253	GAG	EIF4G3	-	pfam_Initiation_fac_eIF4g_MI,superfamily_ARM-type_fold,smart_Initiation_fac_eIF4g_MI		0.338	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	EIF4G3	HGNC	protein_coding	OTTHUMT00000007467.3	C	NM_003760		21175959	-1	no_errors	ENST00000374937	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF6	3692	genome.wustl.edu	37	20	33867892	33867892	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:33867892G>C	ENST00000374450.3	-	5	663	c.399C>G	c.(397-399)ctC>ctG	p.L133L	EIF6_ENST00000374443.3_Silent_p.L114L|MMP24-AS1_ENST00000435366.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|EIF6_ENST00000462894.1_5'UTR|MMP24-AS1_ENST00000455178.1_RNA|EDEM2_ENST00000540582.1_5'Flank|MMP24-AS1_ENST00000456790.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000424358.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|EIF6_ENST00000374436.3_Silent_p.L133L|RP4-614O4.11_ENST00000444717.1_RNA	NM_002212.3	NP_002203.1			eukaryotic translation initiation factor 6											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	9			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CTTCCACCTTGAGCACATCTG	0.502																																																	0													131.0	124.0	126.0					20																	33867892		2203	4300	6503	SO:0001819	synonymous_variant	3692			Y11435	CCDS13249.1, CCDS13250.1	20q11.2	2008-01-18	2007-07-27	2007-07-27	ENSG00000242372	ENSG00000242372			6159	protein-coding gene	gene with protein product		602912	"""integrin beta 4 binding protein"""	EIF3A, ITGB4BP		9374518, 9740680	Standard	NM_181468		Approved	p27BBP, b(2)gcn	uc002xbz.2	P56537	OTTHUMG00000032328	ENST00000374450.3:c.399C>G	20.37:g.33867892G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.S173*	ENST00000374450.3	37	c.518	CCDS13249.1	20																																																																																			EIF6	-	NULL		0.502	EIF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF6	HGNC	protein_coding	OTTHUMT00000078848.3	G	NM_002212		33867892	-1	no_errors	ENST00000415116	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ELF3	1999	genome.wustl.edu	37	1	201981124	201981124	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:201981124C>T	ENST00000359651.3	+	2	3395	c.203C>T	c.(202-204)tCg>tTg	p.S68L	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Missense_Mutation_p.S68L|ELF3_ENST00000367283.3_Missense_Mutation_p.S68L|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000495848.1_3'UTR					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						CAGTTCTGGTCGAAGACGCAG	0.592																																																	0													110.0	111.0	111.0					1																	201981124		2203	4300	6503	SO:0001583	missense	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.203C>T	1.37:g.201981124C>T	ENSP00000352673:p.Ser68Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.S68L	ENST00000359651.3	37	c.203	CCDS1419.1	1	.	.	.	.	.	.	.	.	.	.	C	19.55	3.848331	0.71603	.	.	ENSG00000163435	ENST00000359651;ENST00000367284;ENST00000367283;ENST00000310044;ENST00000446188	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.56	5.56	0.83823	Sterile alpha motif/pointed domain (2);Pointed domain (3);	0.065879	0.56097	D	0.000023	T	0.46852	0.1414	L	0.59436	1.845	0.40388	D	0.979513	D	0.57571	0.98	P	0.46110	0.504	T	0.53041	-0.8494	10	0.66056	D	0.02	.	15.8502	0.78924	0.0:0.8643:0.1357:0.0	.	68	P78545	ELF3_HUMAN	L	68;68;68;68;66	ENSP00000352673:S68L;ENSP00000356253:S68L;ENSP00000356252:S68L;ENSP00000405162:S66L	ENSP00000311348:S68L	S	+	2	0	ELF3	200247747	0.877000	0.30153	0.978000	0.43139	0.493000	0.33554	1.655000	0.37345	2.608000	0.88229	0.591000	0.81541	TCG	ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.592	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	C	NM_004433		201981124	+1	no_errors	ENST00000359651	ensembl	human	known	70_37	missense	SNP	0.991	T
ELF3	1999	genome.wustl.edu	37	1	201981255	201981255	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:201981255C>T	ENST00000359651.3	+	2	3526	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Silent_p.L112L|ELF3_ENST00000367283.3_Silent_p.L112L|RP11-465N4.4_ENST00000419190.1_RNA|ELF3_ENST00000495848.1_3'UTR					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGAGCTGCGTCTGGTCTTTGG	0.597																																																	0													65.0	58.0	61.0					1																	201981255		2203	4300	6503	SO:0001819	synonymous_variant	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.334C>T	1.37:g.201981255C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ets,pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom,smart_Ets,prints_Ets,pfscan_Ets	p.L112	ENST00000359651.3	37	c.334	CCDS1419.1	1																																																																																			ELF3	-	pfam_Pointed_dom,superfamily_SAM/pointed,smart_Pointed_dom		0.597	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	C	NM_004433		201981255	+1	no_errors	ENST00000359651	ensembl	human	known	70_37	silent	SNP	0.009	T
ELF3	1999	genome.wustl.edu	37	1	201982911	201982911	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:201982911G>A	ENST00000359651.3	+	7	3997				RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367284.5_Intron|ELF3_ENST00000367283.3_Intron					E74-like factor 3 (ets domain transcription factor, epithelial-specific )											breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GGCCTTGGGTGAGAGGGGACA	0.657																																																	0													25.0	25.0	25.0					1																	201982911		2203	4299	6502	SO:0001627	intron_variant	1999			AF016295	CCDS1419.1	1q32.2	2008-02-05			ENSG00000163435	ENSG00000163435			3318	protein-coding gene	gene with protein product		602191		ESX		9395241, 9129154	Standard	NM_001114309		Approved	EPR-1, ESE-1, ERT	uc001gxh.4	P78545	OTTHUMG00000035867	ENST00000359651.3:c.806-46G>A	1.37:g.201982911G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000359651.3	37	NULL	CCDS1419.1	1																																																																																			ELF3	-	-		0.657	ELF3-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ELF3	HGNC	protein_coding	OTTHUMT00000087360.1	G	NM_004433		201982911	+1	no_errors	ENST00000475698	ensembl	human	known	70_37	rna	SNP	0.001	A
ELMO1	9844	genome.wustl.edu	37	7	37262231	37262231	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:37262231C>G	ENST00000310758.4	-	10	1416	c.769G>C	c.(769-771)Gag>Cag	p.E257Q	ELMO1_ENST00000448602.1_Missense_Mutation_p.E257Q|ELMO1_ENST00000442504.1_Missense_Mutation_p.E257Q	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	257					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGCCTCCTCTCATCAGGAGCC	0.423																																																	0													138.0	128.0	132.0					7																	37262231		2203	4300	6503	SO:0001583	missense	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.769G>C	7.37:g.37262231C>G	ENSP00000312185:p.Glu257Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E257Q	ENST00000310758.4	37	c.769	CCDS5449.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.16|10.16	1.272854|1.272854	0.23221|0.23221	.|.	.|.	ENSG00000155849|ENSG00000155849	ENST00000310758;ENST00000361912;ENST00000442504;ENST00000448602|ENST00000433246	T;T;T|.	0.50548|.	0.74;0.74;0.74|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.174405|.	0.49916|.	D|.	0.000133|.	T|T	0.52645|0.52645	0.1747|0.1747	N|N	0.14661|0.14661	0.345|0.345	0.80722|0.80722	D|D	1|1	B|.	0.02656|.	0.0|.	B|.	0.14023|.	0.01|.	T|T	0.44682|0.44682	-0.9312|-0.9312	10|5	0.23302|.	T|.	0.38|.	.|.	20.1454|20.1454	0.98074|0.98074	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	257|.	Q92556|.	ELMO1_HUMAN|.	Q|I	257;161;257;257|21	ENSP00000312185:E257Q;ENSP00000406952:E257Q;ENSP00000394458:E257Q|.	ENSP00000312185:E257Q|.	E|M	-|-	1|3	0|0	ELMO1|ELMO1	37228756|37228756	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.287000|0.287000	0.27160|0.27160	7.605000|7.605000	0.82844|0.82844	2.840000|2.840000	0.97914|0.97914	0.655000|0.655000	0.94253|0.94253	GAG|ATG	ELMO1	-	pfam_DUF3361,superfamily_ARM-type_fold		0.423	ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELMO1	HGNC	protein_coding	OTTHUMT00000219830.4	C	NM_130442		37262231	-1	no_errors	ENST00000310758	ensembl	human	known	70_37	missense	SNP	1.000	G
ELMO2	63916	genome.wustl.edu	37	20	45023085	45023085	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:45023085C>G	ENST00000290246.6	-	3	231	c.37G>C	c.(37-39)Gag>Cag	p.E13Q	ELMO2_ENST00000445496.2_5'UTR|ELMO2_ENST00000372176.1_5'UTR|ELMO2_ENST00000488853.1_5'UTR|ELMO2_ENST00000352077.2_Missense_Mutation_p.E13Q|ELMO2_ENST00000396391.1_Missense_Mutation_p.E13Q|ELMO2_ENST00000439931.2_Missense_Mutation_p.E13Q	NM_133171.3	NP_573403.1	Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	13					apoptotic process (GO:0006915)|cell chemotaxis (GO:0060326)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)	receptor tyrosine kinase binding (GO:0030971)			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				CCTGGCCACTCAATGGCCACT	0.537																																																	0													126.0	97.0	107.0					20																	45023085		2203	4300	6503	SO:0001583	missense	63916			AF398886	CCDS13398.1	20q13	2010-03-18	2006-01-20		ENSG00000062598	ENSG00000062598		"""Engulfment and cell motility proteins"""	17233	protein-coding gene	gene with protein product		606421	"""engulfment and cell motility 2 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_133171		Approved	CED12, ELMO-2, CED-12, KIAA1834, FLJ11656	uc002xru.1	Q96JJ3	OTTHUMG00000033070	ENST00000290246.6:c.37G>C	20.37:g.45023085C>G	ENSP00000290246:p.Glu13Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5T3|Q5JVZ6|Q7Z5G9|Q96CJ2|Q96ME5|Q96PA9|Q9H938|Q9H9L5|Q9HAH0|Q9NQQ6	Missense_Mutation	SNP	pfam_DUF3361,pfam_Engulfment_cell_motility_ELMO,superfamily_ARM-type_fold	p.E13Q	ENST00000290246.6	37	c.37	CCDS13398.1	20	.	.	.	.	.	.	.	.	.	.	C	20.3	3.969676	0.74246	.	.	ENSG00000062598	ENST00000290246;ENST00000396391;ENST00000439931;ENST00000352077;ENST00000450812	T;T;T;T;T	0.25085	2.42;2.42;2.42;2.43;1.82	4.66	4.66	0.58398	.	0.000000	0.85682	D	0.000000	T	0.38108	0.1028	L	0.39898	1.24	0.80722	D	1	D;B	0.67145	0.996;0.25	P;B	0.61722	0.893;0.061	T	0.03739	-1.1008	10	0.27785	T	0.31	-17.4716	16.7399	0.85456	0.0:1.0:0.0:0.0	.	13;13	B4DRL5;Q96JJ3	.;ELMO2_HUMAN	Q	13	ENSP00000290246:E13Q;ENSP00000379673:E13Q;ENSP00000396519:E13Q;ENSP00000326172:E13Q;ENSP00000416181:E13Q	ENSP00000290246:E13Q	E	-	1	0	ELMO2	44456492	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.604000	0.82830	2.419000	0.82065	0.591000	0.81541	GAG	ELMO2	-	NULL		0.537	ELMO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ELMO2	HGNC	protein_coding	OTTHUMT00000080466.1	C	NM_022086		45023085	-1	no_errors	ENST00000439931	ensembl	human	known	70_37	missense	SNP	1.000	G
ELP4	26610	genome.wustl.edu	37	11	31669288	31669288	+	Splice_Site	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:31669288G>A	ENST00000350638.5	+	8	962		c.e8-1		Z83001.1_ENST00000429821.1_RNA|ELP4_ENST00000395934.2_Splice_Site|ELP4_ENST00000379163.5_Splice_Site	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4						chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|regulation of protein kinase activity (GO:0045859)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|transcription elongation factor complex (GO:0008023)	phosphorylase kinase regulator activity (GO:0008607)	p.?(2)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					ATGTTTTGCAGAATAAAGCCA	0.338																																																	2	Unknown(2)	kidney(2)											187.0	163.0	171.0					11																	31669288		1824	4077	5901	SO:0001630	splice_region_variant	26610			AJ276005	CCDS7875.2, CCDS73271.1, CCDS73272.1	11p13	2012-08-14	2012-08-08	2002-05-24	ENSG00000109911	ENSG00000109911		"""Elongator acetyltransferase complex subunits"""	1171	protein-coding gene	gene with protein product		606985	"""chromosome 11 open reading frame 19"", ""elongation protein 4 homolog (S. cerevisiae)"""	C11orf19		11889558, 11435442	Standard	XM_005252865		Approved	PAXNEB	uc001mtb.3	Q96EB1	OTTHUMG00000142919	ENST00000350638.5:c.928-1G>A	11.37:g.31669288G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3W0|E7EPZ6|Q9H4E8|Q9NX11	Splice_Site	SNP	-	e8-1	ENST00000350638.5	37	c.928-1	CCDS7875.2	11	.	.	.	.	.	.	.	.	.	.	G	24.2	4.506546	0.85282	.	.	ENSG00000109911	ENST00000350638;ENST00000379163;ENST00000395934	.	.	.	5.92	5.92	0.95590	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3172	0.98658	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ELP4	31625864	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	7.942000	0.87708	2.801000	0.96364	0.650000	0.86243	.	ELP4	-	-		0.338	ELP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP4	HGNC	protein_coding	OTTHUMT00000286640.1	G	NM_019040	Intron	31669288	+1	no_errors	ENST00000395934	ensembl	human	known	70_37	splice_site	SNP	1.000	A
EME2	197342	genome.wustl.edu	37	16	1823777	1823777	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1823777G>C	ENST00000568449.1	+	2	340	c.319G>C	c.(319-321)Gag>Cag	p.E107Q	EME2_ENST00000307394.7_Missense_Mutation_p.E107Q|NME3_ENST00000219302.3_5'Flank|MRPS34_ENST00000177742.3_5'Flank|NME3_ENST00000563498.1_5'Flank|MRPS34_ENST00000397375.2_5'Flank	NM_001257370.1	NP_001244299.1	A4GXA9	EME2_HUMAN	essential meiotic structure-specific endonuclease subunit 2	107					DNA recombination (GO:0006310)|DNA repair (GO:0006281)	nucleus (GO:0005634)	DNA binding (GO:0003677)|endonuclease activity (GO:0004519)			central_nervous_system(1)|kidney(2)|lung(5)|pancreas(1)	9						GTGCCGCATCGAGCCCCAGCG	0.756								Direct reversal of damage;Homologous recombination																																									0													4.0	3.0	4.0					16																	1823777		1762	3499	5261	SO:0001583	missense	197342			AK074080	CCDS58404.1	16p13.3	2013-07-03	2013-07-03			ENSG00000197774			27289	protein-coding gene	gene with protein product	"""SLX2 structure-specific endonuclease subunit homolog B (S. cerevisiae)"""	610886	"""essential meiotic endonuclease 1 homolog 2 (S. pombe)"""			12721304	Standard	NM_001257370		Approved	FLJ00151, SLX2B	uc010brw.1	A4GXA9		ENST00000568449.1:c.319G>C	16.37:g.1823777G>C	ENSP00000457353:p.Glu107Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEP2|Q96RY3	Missense_Mutation	SNP	pfam_ERCC4_domain,smart_ERCC4_domain	p.E107Q	ENST00000568449.1	37	c.319	CCDS58404.1	16	.	.	.	.	.	.	.	.	.	.	G	16.01	3.002389	0.54254	.	.	ENSG00000197774	ENST00000307394;ENST00000454910	T	0.25912	1.77	3.56	3.56	0.40772	ERCC4 domain (2);	0.413845	0.17382	N	0.176272	T	0.41627	0.1167	.	.	.	0.31248	N	0.694439	D	0.60575	0.988	D	0.63703	0.917	T	0.39881	-0.9592	9	0.27082	T	0.32	-3.6002	14.1144	0.65144	0.0:0.0:1.0:0.0	.	107	A4GXA9	EME2_HUMAN	Q	107	ENSP00000303779:E107Q	ENSP00000303779:E107Q	E	+	1	0	EME2	1763778	0.759000	0.28416	0.060000	0.19600	0.674000	0.39518	3.709000	0.54853	1.707000	0.51288	0.306000	0.20318	GAG	EME2	-	pfam_ERCC4_domain,smart_ERCC4_domain		0.756	EME2-001	NOVEL	basic|CCDS	protein_coding	EME2	HGNC	protein_coding	OTTHUMT00000433185.2	G	NM_001010865		1823777	+1	no_errors	ENST00000307394	ensembl	human	known	70_37	missense	SNP	0.880	C
EMILIN1	11117	genome.wustl.edu	37	2	27306543	27306543	+	Nonsense_Mutation	SNP	G	G	T	rs370534632		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27306543G>T	ENST00000380320.4	+	4	2603	c.2104G>T	c.(2104-2106)Gag>Tag	p.E702*		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	702					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGCTACAGAGAGTGAAGA	0.612																																																	0													93.0	94.0	93.0					2																	27306543		2203	4300	6503	SO:0001587	stop_gained	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2104G>T	2.37:g.27306543G>T	ENSP00000369677:p.Glu702*	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Nonsense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.E702*	ENST00000380320.4	37	c.2104	CCDS1733.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.757456|9.757456	0.99256|0.99256	.|.	.|.	ENSG00000138080|ENSG00000138080	ENST00000380320;ENST00000544143|ENST00000433140	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.063417|.	0.64402|.	D|.	0.000009|.	.|T	.|0.66470	.|0.2792	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70048	.|-0.4979	.|3	0.07644|.	T|.	0.81|.	-26.159|-26.159	15.5879|15.5879	0.76499|0.76499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|H	702;28|27	.|.	ENSP00000369677:E702X|.	E|Q	+|+	1|3	0|2	EMILIN1|EMILIN1	27160047|27160047	1.000000|1.000000	0.71417|0.71417	0.944000|0.944000	0.38274|0.38274	0.783000|0.783000	0.44284|0.44284	4.158000|4.158000	0.58150|0.58150	2.534000|2.534000	0.85438|0.85438	0.555000|0.555000	0.69702|0.69702	GAG|CAG	EMILIN1	-	NULL		0.612	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	HGNC	protein_coding	OTTHUMT00000214185.1	G	NM_007046		27306543	+1	no_errors	ENST00000380320	ensembl	human	known	70_37	nonsense	SNP	0.997	T
EMILIN1	11117	genome.wustl.edu	37	2	27306552	27306552	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27306552G>T	ENST00000380320.4	+	4	2612	c.2113G>T	c.(2113-2115)Gag>Tag	p.E705*		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	705					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGAGTGAAGAGCGCTTCCG	0.602																																																	0													94.0	96.0	95.0					2																	27306552		2203	4300	6503	SO:0001587	stop_gained	11117			AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.2113G>T	2.37:g.27306552G>T	ENSP00000369677:p.Glu705*	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Nonsense_Mutation	SNP	pfam_EMI_domain,pfam_C1q,pfam_Collagen,superfamily_Tumour_necrosis_fac-like,smart_C1q,pfscan_C1q,pfscan_EMI_domain	p.E705*	ENST00000380320.4	37	c.2113	CCDS1733.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	42|42	9.789634|9.789634	0.99264|0.99264	.|.	.|.	ENSG00000138080|ENSG00000138080	ENST00000380320;ENST00000544143|ENST00000433140	.|.	.|.	.|.	4.89|4.89	4.89|4.89	0.63831|0.63831	.|.	0.338975|.	0.28828|.	N|.	0.014006|.	.|T	.|0.66470	.|0.2792	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70048	.|-0.4979	.|3	0.20519|.	T|.	0.43|.	-26.6798|-26.6798	15.5879|15.5879	0.76499|0.76499	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	705;31|30	.|.	ENSP00000369677:E705X|.	E|K	+|+	1|3	0|2	EMILIN1|EMILIN1	27160056|27160056	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.786000|0.786000	0.44442|0.44442	6.040000|6.040000	0.70980|0.70980	2.534000|2.534000	0.85438|0.85438	0.555000|0.555000	0.69702|0.69702	GAG|AAG	EMILIN1	-	NULL		0.602	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMILIN1	HGNC	protein_coding	OTTHUMT00000214185.1	G	NM_007046		27306552	+1	no_errors	ENST00000380320	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EMX2	2018	genome.wustl.edu	37	10	119308877	119308877	+	3'UTR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:119308877C>G	ENST00000553456.3	+	0	2717					NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2						anterior/posterior pattern specification (GO:0009952)|cell proliferation in forebrain (GO:0021846)|cerebral cortex regionalization (GO:0021796)|dentate gyrus development (GO:0021542)|forebrain cell migration (GO:0021885)|neuron differentiation (GO:0030182)|regulation of transcription, DNA-templated (GO:0006355)|renal system development (GO:0072001)|response to drug (GO:0042493)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CACTGAGTTTCTATTCCAAGA	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	2018			AF301598	CCDS7601.1, CCDS53583.1	10q26.11	2011-06-20	2007-02-15		ENSG00000170370	ENSG00000170370		"""Homeoboxes / ANTP class : NKL subclass"""	3341	protein-coding gene	gene with protein product		600035	"""empty spiracles homolog 2 (Drosophila)"""			7959790	Standard	NM_004098		Approved		uc001ldh.4	Q04743	OTTHUMG00000019123	ENST00000553456.3:c.*1134C>G	10.37:g.119308877C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	G3V305|Q96NN8|Q9BQF4	RNA	SNP	-	NULL	ENST00000553456.3	37	NULL	CCDS7601.1	10																																																																																			EMX2	-	-		0.368	EMX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EMX2	HGNC	protein_coding	OTTHUMT00000050569.4	C	NM_004098		119308877	+1	no_errors	ENST00000442245	ensembl	human	known	70_37	rna	SNP	0.994	G
ENDOD1	23052	genome.wustl.edu	37	11	94862392	94862392	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:94862392C>G	ENST00000278505.4	+	2	1270	c.1152C>G	c.(1150-1152)atC>atG	p.I384M		NM_015036.2	NP_055851.1	O94919	ENDD1_HUMAN	endonuclease domain containing 1	384						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.00824)				CAGCCACCATCTCATACTTCA	0.498																																																	0													124.0	113.0	117.0					11																	94862392		1980	4168	6148	SO:0001583	missense	23052			BC026191	CCDS41699.1	11q21	2010-03-19			ENSG00000149218	ENSG00000149218			29129	protein-coding gene	gene with protein product						10048485	Standard	NM_015036		Approved	KIAA0830	uc001pfh.3	O94919	OTTHUMG00000167835	ENST00000278505.4:c.1152C>G	11.37:g.94862392C>G	ENSP00000278505:p.Ile384Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6K8|Q6GQY5|Q8TAQ8	Missense_Mutation	SNP	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	p.I384M	ENST00000278505.4	37	c.1152	CCDS41699.1	11	.	.	.	.	.	.	.	.	.	.	C	8.201	0.798258	0.16397	.	.	ENSG00000149218	ENST00000278505	T	0.34472	1.36	6.03	1.92	0.25849	.	0.998210	0.08111	N	0.996128	T	0.33381	0.0861	L	0.57536	1.79	0.09310	N	1	P	0.34780	0.468	B	0.29267	0.1	T	0.26258	-1.0108	10	0.72032	D	0.01	-5.4338	8.8098	0.34961	0.0:0.4922:0.35:0.1578	.	384	O94919	ENDD1_HUMAN	M	384	ENSP00000278505:I384M	ENSP00000278505:I384M	I	+	3	3	ENDOD1	94502040	0.139000	0.22563	0.025000	0.17156	0.678000	0.39670	-0.145000	0.10265	0.428000	0.26173	0.557000	0.71058	ATC	ENDOD1	-	NULL		0.498	ENDOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENDOD1	HGNC	protein_coding	OTTHUMT00000396545.1	C	NM_015036		94862392	+1	no_errors	ENST00000278505	ensembl	human	known	70_37	missense	SNP	0.099	G
ENPP1	5167	genome.wustl.edu	37	6	132207745	132207745	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:132207745C>T	ENST00000360971.2	+	24	2508	c.2488C>T	c.(2488-2490)Cac>Tac	p.H830Y		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	830	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|ATP catabolic process (GO:0006200)|biomineral tissue development (GO:0031214)|bone remodeling (GO:0046849)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to insulin stimulus (GO:0032869)|generation of precursor metabolites and energy (GO:0006091)|immune response (GO:0006955)|inorganic diphosphate transport (GO:0030505)|negative regulation of cell growth (GO:0030308)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of ossification (GO:0030279)|negative regulation of protein autophosphorylation (GO:0031953)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleoside triphosphate catabolic process (GO:0009143)|phosphate-containing compound metabolic process (GO:0006796)|regulation of bone mineralization (GO:0030500)|riboflavin metabolic process (GO:0006771)|sequestering of triglyceride (GO:0030730)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	3'-phosphoadenosine 5'-phosphosulfate binding (GO:0050656)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|insulin receptor binding (GO:0005158)|NADH pyrophosphatase activity (GO:0035529)|nucleic acid binding (GO:0003676)|nucleoside-triphosphate diphosphatase activity (GO:0047429)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|protein homodimerization activity (GO:0042803)|scavenger receptor activity (GO:0005044)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	GATTCCAACTCACTTCTTTAT	0.353																																					Colon(104;336 1535 5856 11019 33782)												0													80.0	74.0	76.0					6																	132207745		2203	4300	6503	SO:0001583	missense	5167			M57736	CCDS5150.2	6q22-q23	2008-02-07			ENSG00000197594	ENSG00000197594	3.1.4.1, 3.6.1.9		3356	protein-coding gene	gene with protein product		173335		NPPS, M6S1, PDNP1		1315502	Standard	NM_006208		Approved	PC-1, PCA1	uc011ecf.2	P22413	OTTHUMG00000015572	ENST00000360971.2:c.2488C>T	6.37:g.132207745C>T	ENSP00000354238:p.His830Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9R6|Q9NPZ3|Q9P1P6|Q9UP61|Q9Y6K3	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.H830Y	ENST00000360971.2	37	c.2488	CCDS5150.2	6	.	.	.	.	.	.	.	.	.	.	C	28.0	4.878689	0.91740	.	.	ENSG00000197594	ENST00000360971	T	0.68624	-0.34	6.07	6.07	0.98685	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.049107	0.85682	D	0.000000	D	0.84710	0.5532	M	0.90425	3.115	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86241	0.1643	10	0.87932	D	0	-21.7373	20.2544	0.98414	0.0:1.0:0.0:0.0	.	830	P22413	ENPP1_HUMAN	Y	830	ENSP00000354238:H830Y	ENSP00000354238:H830Y	H	+	1	0	ENPP1	132249438	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.357000	0.73051	2.885000	0.99019	0.655000	0.94253	CAC	ENPP1	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.353	ENPP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP1	HGNC	protein_coding	OTTHUMT00000042238.2	C			132207745	+1	no_errors	ENST00000360971	ensembl	human	known	70_37	missense	SNP	1.000	T
ENPP6	133121	genome.wustl.edu	37	4	185138866	185138866	+	Nonsense_Mutation	SNP	G	G	C	rs375902924		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:185138866G>C	ENST00000296741.2	-	1	248	c.107C>G	c.(106-108)tCa>tGa	p.S36*		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	36					choline metabolic process (GO:0019695)|lipid catabolic process (GO:0016042)|lipid metabolic process (GO:0006629)	anchored component of membrane (GO:0031225)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	glycerophosphocholine cholinephosphodiesterase activity (GO:0047390)|glycerophosphodiester phosphodiesterase activity (GO:0008889)|phosphoric diester hydrolase activity (GO:0008081)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GATGTAGTCTGAGCGAAAACC	0.567																																																	0													61.0	59.0	60.0					4																	185138866		2203	4300	6503	SO:0001587	stop_gained	133121			AK057370	CCDS3834.1	4q35.1	2008-02-05			ENSG00000164303	ENSG00000164303			23409	protein-coding gene	gene with protein product							Standard	NM_153343		Approved	MGC33971	uc003iwc.3	Q6UWR7	OTTHUMG00000160617	ENST00000296741.2:c.107C>G	4.37:g.185138866G>C	ENSP00000296741:p.Ser36*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5Q1|Q96M57	Nonsense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.S36*	ENST00000296741.2	37	c.107	CCDS3834.1	4	.	.	.	.	.	.	.	.	.	.	G	17.55	3.417563	0.62622	.	.	ENSG00000164303	ENST00000296741	.	.	.	5.28	2.32	0.28847	.	0.553075	0.20451	N	0.092087	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-3.465	1.2595	0.01999	0.15:0.2745:0.2961:0.2794	.	.	.	.	X	36	.	ENSP00000296741:S36X	S	-	2	0	ENPP6	185375860	0.208000	0.23494	0.434000	0.26772	0.018000	0.09664	1.601000	0.36773	0.765000	0.33221	-0.175000	0.13238	TCA	ENPP6	-	pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core		0.567	ENPP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENPP6	HGNC	protein_coding	OTTHUMT00000361428.1	G	NM_153343		185138866	-1	no_errors	ENST00000296741	ensembl	human	known	70_37	nonsense	SNP	0.024	C
SLC35E1	79939	genome.wustl.edu	37	19	16677459	16677459	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:16677459C>G	ENST00000595753.1	-	4	657	c.640G>C	c.(640-642)Gat>Cat	p.D214H	CTD-3222D19.10_ENST00000597851.1_RNA|SLC35E1_ENST00000431408.1_Missense_Mutation_p.D58H|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.E407D	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	214					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						ATCCGTGAATCTCGCAAGACC	0.537																																																	0													87.0	85.0	86.0					19																	16677459		2203	4300	6503	SO:0001583	missense	0			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.640G>C	19.37:g.16677459C>G	ENSP00000470652:p.Asp214His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NBQ2|Q96JV7	Missense_Mutation	SNP	pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.E407D	ENST00000595753.1	37	c.1221	CCDS12346.2	19	.	.	.	.	.	.	.	.	.	.	C	16.60	3.169706	0.57584	.	.	ENSG00000127526	ENST00000409648;ENST00000436553;ENST00000431408	T;T	0.63913	-0.05;-0.07	5.4	5.4	0.78164	Domain of unknown function DUF250 (1);	0.000000	0.85682	D	0.000000	T	0.78572	0.4304	M	0.65677	2.01	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.995;0.998	T	0.80058	-0.1541	10	0.66056	D	0.02	-27.0985	18.1728	0.89752	0.0:1.0:0.0:0.0	.	214;70	Q96K37;Q9H7U6	S35E1_HUMAN;.	H	214;148;58	ENSP00000400435:D148H;ENSP00000397670:D58H	ENSP00000387152:D214H	D	-	1	0	SLC35E1	16538459	1.000000	0.71417	0.707000	0.30419	0.110000	0.19582	7.284000	0.78650	2.527000	0.85204	0.655000	0.94253	GAT	CTD-3222D19.2	-	NULL		0.537	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000141979	Clone_based_vega_gene	protein_coding	OTTHUMT00000326809.2	C	NM_024881		16677459	-1	no_errors	ENST00000409035	ensembl	human	known	70_37	missense	SNP	1.000	G
EIF2S3L	0	genome.wustl.edu	37	12	10659246	10659246	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:10659246G>C	ENST00000538173.1	+	1	758	c.745G>C	c.(745-747)Gac>Cac	p.D249H	EIF2S3L_ENST00000322446.3_Missense_Mutation_p.D249H			Q2VIR3	IF2GL_HUMAN		249							GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation initiation factor activity (GO:0003743)			lung(8)	8						ACCCCCAAGAGACTTTACTTC	0.423																																																	0																																										SO:0001583	missense	0																														ENST00000538173.1:c.745G>C	12.37:g.10659246G>C	ENSP00000445077:p.Asp249His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5I0X0|Q6KF84	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_elong_init/rib_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom	p.D249H	ENST00000538173.1	37	c.745		12	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471529	0.43942	.	.	ENSG00000180574	ENST00000322446;ENST00000538173	T;T	0.64618	-0.11;-0.11	2.53	1.6	0.23607	.	0.000000	0.85682	D	0.000000	T	0.62792	0.2457	.	.	.	.	.	.	.	.	.	.	.	.	T	0.70011	-0.4989	6	0.72032	D	0.01	.	7.4011	0.26965	0.1452:0.0:0.8548:0.0	.	.	.	.	H	249	ENSP00000323063:D249H;ENSP00000445077:D249H	ENSP00000323063:D249H	D	+	1	0	AC068775.1	10550513	1.000000	0.71417	0.779000	0.31741	0.787000	0.44495	3.541000	0.53618	0.394000	0.25230	0.306000	0.20318	GAC	EIF2S3L	-	superfamily_Transl_elong_init/rib_B-barrel		0.423	EIF2S3L-002	KNOWN	basic|appris_principal	protein_coding	ENSG00000180574	Uniprot_genename	protein_coding	OTTHUMT00000400341.3	G			10659246	+1	no_errors	ENST00000538173	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF788	388507	genome.wustl.edu	37	19	12223676	12223676	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:12223676G>C	ENST00000339302.4	+	3	1951	c.1314G>C	c.(1312-1314)ttG>ttC	p.L438F	ZNF788_ENST00000430298.2_3'UTR|ZNF788_ENST00000397759.3_Missense_Mutation_p.L57F|ZNF20_ENST00000600335.1_Intron			Q6ZQV5	ZN788_HUMAN	zinc finger family member 788	438					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	2						GTCGTGAATTGAGTCACACTG	0.448																																					Melanoma(116;440 1644 18510 25456 49479)												0																																										SO:0001583	missense	0			AI566055		19p13.2	2013-01-08	2006-08-16		ENSG00000214189	ENSG00000214189		"""Zinc fingers, C2H2-type"""	33112	protein-coding gene	gene with protein product							Standard	NR_027049		Approved	FLJ46419	uc002mtd.3	Q6ZQV5	OTTHUMG00000156416	ENST00000339302.4:c.1314G>C	19.37:g.12223676G>C	ENSP00000342021:p.Leu438Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZRE4	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L438F	ENST00000339302.4	37	c.1314		19	.	.	.	.	.	.	.	.	.	.	G	10.90	1.482511	0.26598	.	.	ENSG00000188474	ENST00000339302;ENST00000397759	T;T	0.16073	2.37;3.24	0.808	0.808	0.18719	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.11196	0.0273	.	.	.	.	.	.	B	0.21071	0.051	B	0.20955	0.032	T	0.26258	-1.0108	7	0.87932	D	0	.	2.4058	0.04413	0.2402:0.336:0.4238:0.0	.	438	Q6ZQV5	ZN788_HUMAN	F	438;57	ENSP00000342021:L438F;ENSP00000380866:L57F	ENSP00000342021:L438F	L	+	3	2	AC022415.1	12084676	0.000000	0.05858	0.010000	0.14722	0.009000	0.06853	-0.676000	0.05221	0.711000	0.32018	0.462000	0.41574	TTG	ZNF788	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.448	ZNF788-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000188474	Uniprot_genename	protein_coding		G	XM_930581		12223676	+1	no_errors	ENST00000339302	ensembl	human	known	70_37	missense	SNP	0.076	C
HMGA2	8091	genome.wustl.edu	37	12	66275622	66275622	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:66275622G>C	ENST00000403681.2	+	3	1389				HMGA2_ENST00000425208.2_3'UTR|HMGA2_ENST00000354636.3_Intron|RP11-366L20.2_ENST00000504038.2_5'Flank|HMGA2_ENST00000536545.1_Intron|HMGA2_ENST00000541363.1_Intron|RP11-366L20.2_ENST00000356215.2_Nonsense_Mutation_p.S48*|RP11-366L20.2_ENST00000439236.2_Nonsense_Mutation_p.S48*|HMGA2_ENST00000393577.3_Intron	NM_003483.4	NP_003474.1	P52926	HMGA2_HUMAN	high mobility group AT-hook 2						adrenal gland development (GO:0030325)|base-excision repair (GO:0006284)|cell proliferation in forebrain (GO:0021846)|chondrocyte differentiation (GO:0002062)|chondrocyte proliferation (GO:0035988)|chromatin organization (GO:0006325)|chromosome breakage (GO:0031052)|chromosome condensation (GO:0030261)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA damage response, detection of DNA damage (GO:0042769)|endodermal cell differentiation (GO:0035987)|epithelial to mesenchymal transition (GO:0001837)|fat cell differentiation (GO:0045444)|fat pad development (GO:0060613)|heterochromatin assembly (GO:0031507)|histone H2A-S139 phosphorylation (GO:0035978)|male gonad development (GO:0008584)|mesenchymal cell differentiation (GO:0048762)|mesodermal cell differentiation (GO:0048333)|mesodermal-endodermal cell signaling (GO:0003131)|mitotic G2 DNA damage checkpoint (GO:0007095)|mitotic nuclear division (GO:0007067)|multicellular organismal development (GO:0007275)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of apoptotic process (GO:0043066)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of DNA binding (GO:0043392)|negative regulation of double-strand break repair via nonhomologous end joining (GO:2001033)|negative regulation of intracellular steroid hormone receptor signaling pathway (GO:0033144)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|oncogene-induced cell senescence (GO:0090402)|pituitary gland development (GO:0021983)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of cellular response to X-ray (GO:2000685)|positive regulation of cellular senescence (GO:2000774)|positive regulation of gene expression (GO:0010628)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of response to DNA damage stimulus (GO:2001022)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle process (GO:0010564)|regulation of cellular response to drug (GO:2001038)|regulation of growth hormone secretion (GO:0060123)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|senescence-associated heterochromatin focus assembly (GO:0035986)|signal transduction (GO:0007165)|somatic stem cell maintenance (GO:0035019)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)	nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|senescence-associated heterochromatin focus (GO:0035985)|SMAD protein complex (GO:0071141)	5'-deoxyribose-5-phosphate lyase activity (GO:0051575)|AT DNA binding (GO:0003680)|C2H2 zinc finger domain binding (GO:0070742)|cAMP response element binding (GO:0035497)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|DNA-dependent protein kinase activity (GO:0004677)|MH1 domain binding (GO:0035501)|MH2 domain binding (GO:0035500)|nucleosomal DNA binding (GO:0031492)|regulatory region DNA binding (GO:0000975)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		TCCCTTCCTTGAACTGCACTC	0.562			T	""" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"""	"""lipoma, leiomyoma, pleiomorphic salivary gland adenoma"""						OREG0021972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		12	12q15	8091	high mobility group AT-hook 2 (HMGIC)		M	0																																										SO:0001627	intron_variant	0			U28754	CCDS31854.1, CCDS44936.1, CCDS73491.1, CCDS73492.1	12q15	2011-07-01	2002-07-25	2002-07-26	ENSG00000149948	ENSG00000149948		"""High-mobility group / Canonical"""	5009	protein-coding gene	gene with protein product		600698	"""high-mobility group (nonhistone chromosomal) protein isoform I-C"""	HMGIC		8824803, 9003504	Standard	XM_006719620		Approved	BABL, LIPO	uc001ssx.3	P52926	OTTHUMG00000168936	ENST00000403681.2:c.249+43273G>C	12.37:g.66275622G>C		Somatic	1090	WXS	Illumina HiSeq	Phase_IV	E7EP85|E7EWA2|Q1M182|Q1M185|Q1M186|Q1M187|Q1M188	Nonsense_Mutation	SNP	NULL	p.S48*	ENST00000403681.2	37	c.143	CCDS44936.1	12	.	.	.	.	.	.	.	.	.	.	G	17.01	3.280315	0.59758	.	.	ENSG00000197301	ENST00000439236;ENST00000356215	.	.	.	6.04	1.69	0.24217	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	.	.	.	.	.	.	.	.	1.6428	0.02756	0.1787:0.1158:0.4582:0.2473	.	.	.	.	X	48	.	.	S	-	2	0	RP11-366L20.2	64561889	0.008000	0.16893	0.001000	0.08648	0.060000	0.15804	0.600000	0.24104	0.414000	0.25790	0.650000	0.86243	TCA	RP11-366L20.2	-	NULL		0.562	HMGA2-001	KNOWN	basic|CCDS	protein_coding	ENSG00000197301	Clone_based_vega_gene	protein_coding	OTTHUMT00000401654.1	G	NM_003483		66275622	-1	no_errors	ENST00000439236	ensembl	human	putative	70_37	nonsense	SNP	0.001	C
CCDC180	100499483	genome.wustl.edu	37	9	100000946	100000946	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:100000946G>C	ENST00000357054.1	+	1	71				CCDC180_ENST00000411667.2_Intron|CCDC180_ENST00000375202.2_Intron|CCDC180_ENST00000395220.1_Intron|RP11-498P14.5_ENST00000366109.2_lincRNA|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375205.2_Intron			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180							extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											GTTTTTTCCAGAGCTTCTCAG	0.517																																																	0																																										SO:0001627	intron_variant	0			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.-865+97G>C	9.37:g.100000946G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	RNA	SNP	-	NULL	ENST00000357054.1	37	NULL		9																																																																																			RP11-498P14.5	-	-		0.517	CCDC180-201	KNOWN	basic	protein_coding	ENSG00000203279	Clone_based_vega_gene	protein_coding		G	NM_020893		100000946	-1	no_errors	ENST00000366109	ensembl	human	known	70_37	rna	SNP	0.857	C
DKFZp779M0652	374387	genome.wustl.edu	37	11	45793181	45793181	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:45793181G>A	ENST00000378779.2	+	1	199	c.46G>A	c.(46-48)Gag>Aag	p.E16K																								CCTGTTTAGAGAGGAAGGTCG	0.587											OREG0020933	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001583	missense	0																														ENST00000378779.2:c.46G>A	11.37:g.45793181G>A	ENSP00000368055:p.Glu16Lys	Somatic	934	WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E16K	ENST00000378779.2	37	c.46		11	.	.	.	.	.	.	.	.	.	.	G	11.74	1.730144	0.30684	.	.	ENSG00000205106	ENST00000378779	.	.	.	2.53	1.61	0.23674	.	.	.	.	.	T	0.29028	0.0721	.	.	.	0.09310	N	1	B	0.22346	0.068	B	0.18263	0.021	T	0.27088	-1.0084	7	0.87932	D	0	.	5.2991	0.15768	0.1648:0.0:0.8352:0.0	.	16	E7ER63	.	K	16	.	ENSP00000368055:E16K	E	+	1	0	CTD-2210P24.4	45749757	0.007000	0.16637	0.003000	0.11579	0.001000	0.01503	0.609000	0.24238	0.663000	0.31027	-0.253000	0.11424	GAG	CTD-2210P24.4	-	NULL		0.587	CTD-2210P24.4-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000205106	Clone_based_vega_gene	protein_coding	OTTHUMT00000390137.1	G			45793181	+1	no_errors	ENST00000378779	ensembl	human	putative	70_37	missense	SNP	0.003	A
KRT17P4	339186	genome.wustl.edu	37	17	16755071	16755071	+	RNA	SNP	C	C	G	rs113274249		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:16755071C>G	ENST00000578037.1	-	0	0																											TAGACCAGGTCCTCCTTGAGG	0.592																																																	0																																												0																															17.37:g.16755071C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000578037.1	37	NULL		17																																																																																			AC022596.2	-	-		0.592	AC022596.2-005	KNOWN	basic	processed_transcript	ENSG00000205312	Clone_based_vega_gene	pseudogene	OTTHUMT00000444295.1	C			16755071	-1	no_errors	ENST00000579946	ensembl	human	known	70_37	rna	SNP	1.000	G
MC5R	4161	genome.wustl.edu	37	18	13823981	13823981	+	5'Flank	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:13823981C>G	ENST00000324750.3	+	0	0				AP001525.1_ENST00000390194.2_RNA	NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor						G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	hormone binding (GO:0042562)|melanocortin receptor activity (GO:0004977)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						aagcaaccatccaaccaTTCA	0.632																																																	0																																										SO:0001631	upstream_gene_variant	0			AY268429	CCDS11868.1	18p11.2	2012-08-10			ENSG00000176136	ENSG00000176136		"""GPCR / Class A : Melanocortin receptors"""	6933	protein-coding gene	gene with protein product		600042				8396929	Standard	NM_005913		Approved		uc010xaf.2	P33032	OTTHUMG00000131720		18.37:g.13823981C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ34|Q502V1	RNA	SNP	-	NULL	ENST00000324750.3	37	NULL	CCDS11868.1	18																																																																																			AP001525.1	-	-		0.632	MC5R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000211528	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000254638.1	C	NM_005913		13823981	-1	no_errors	ENST00000390194	ensembl	human	novel	70_37	rna	SNP	0.003	G
LRRC37BP1	147172	genome.wustl.edu	37	17	28960193	28960193	+	RNA	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:28960193C>A	ENST00000417404.1	+	0	1054									leucine rich repeat containing 37B pseudogene 1																		GTTCATGTCTCATGTTATCTG	0.498																																																	0																																												0			BC118647		17q11.2	2012-10-05	2010-08-16	2010-08-16	ENSG00000250462	ENSG00000250462			25390	pseudogene	pseudogene			"""leucine rich repeat containing 37, member B2"""	LRRC37B2			Standard	NR_015341		Approved	DKFZp667M2411	uc010csj.3		OTTHUMG00000132795		17.37:g.28960193C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000417404.1	37	NULL		17																																																																																			AC005562.1	-	-		0.498	LRRC37BP1-003	KNOWN	basic	processed_transcript	ENSG00000214719	Clone_based_vega_gene	pseudogene	OTTHUMT00000256203.1	C	NR_015341		28960193	+1	no_errors	ENST00000398849	ensembl	human	known	70_37	rna	SNP	0.012	A
FAM19A5	25817	genome.wustl.edu	37	22	48942355	48942355	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:48942355G>C	ENST00000402357.1	+	1	245				CTA-299D3.8_ENST00000467207.1_Intron|CTA-299D3.8_ENST00000407505.3_Missense_Mutation_p.S14C	NM_001082967.1	NP_001076436.1	Q7Z5A7	F19A5_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A5							extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		TGTGGGATGAGAGATACGGAT	0.577																																																	0																																										SO:0001627	intron_variant	0			AY325118	CCDS46728.1, CCDS46729.1	22q13.32	2005-09-20			ENSG00000219438	ENSG00000219438			21592	protein-coding gene	gene with protein product						15028294	Standard	NM_015381		Approved	TAFA-5	uc003bim.4	Q7Z5A7	OTTHUMG00000150308	ENST00000402357.1:c.112+56839G>C	22.37:g.48942355G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NII9|B0QZ13|B0QZ14|B0QZ15|O95902|Q5H9C4|Q6UWC9|Q8IXR8	Missense_Mutation	SNP	NULL	p.S14C	ENST00000402357.1	37	c.41	CCDS46728.1	22	.	.	.	.	.	.	.	.	.	.	G	7.808	0.714985	0.15306	.	.	ENSG00000219016	ENST00000407505	.	.	.	1.78	0.722	0.18225	.	.	.	.	.	T	0.36248	0.0960	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37126	-0.9719	5	0.87932	D	0	.	3.5629	0.07889	0.265:0.0:0.735:0.0	.	.	.	.	C	14	.	ENSP00000384340:S14C	S	-	2	0	CTA-299D3.8	47321019	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.257000	0.08745	0.269000	0.21961	0.467000	0.42956	TCT	CTA-299D3.8	-	NULL		0.577	FAM19A5-003	PUTATIVE	basic|CCDS	protein_coding	ENSG00000219016	Clone_based_vega_gene	protein_coding	OTTHUMT00000317504.1	G	NM_015381		48942355	-1	no_errors	ENST00000407505	ensembl	human	putative	70_37	missense	SNP	0.001	C
RP11-1396O13.13	0	genome.wustl.edu	37	4	9386118	9386118	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:9386118G>C	ENST00000508324.1	-	5	525	c.526C>G	c.(526-528)Ctt>Gtt	p.L176V																	breast(2)|lung(7)	9						TTTTCACAAAGATTACACTGA	0.373																																																	0																																										SO:0001583	missense	0																														ENST00000508324.1:c.526C>G	4.37:g.9386118G>C	ENSP00000421652:p.Leu176Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L176V	ENST00000508324.1	37	c.526		4	.	.	.	.	.	.	.	.	.	.	.	3.468	-0.108560	0.06924	.	.	ENSG00000219492	ENST00000508324	T	0.05855	3.38	0.77	-0.187	0.13268	.	.	.	.	.	T	0.06690	0.0171	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.37150	-0.9718	6	0.62326	D	0.03	.	3.1958	0.06633	0.0:0.2844:0.4299:0.2857	.	.	.	.	V	176	ENSP00000421652:L176V	ENSP00000421652:L176V	L	-	1	0	RP11-1396O13.13	8995216	0.000000	0.05858	0.002000	0.10522	0.011000	0.07611	-0.052000	0.11865	-0.140000	0.11394	-1.210000	0.01631	CTT	RP11-1396O13.13	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	RP11-1396O13.13-001	NOVEL	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ENSG00000219492	Clone_based_vega_gene	protein_coding	OTTHUMT00000359605.2	G			9386118	-1	no_errors	ENST00000508324	ensembl	human	novel	70_37	missense	SNP	0.008	C
SP5	389058	genome.wustl.edu	37	2	171570358	171570358	+	5'Flank	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:171570358C>T	ENST00000375281.3	+	0	0				AC007405.2_ENST00000409786.1_Missense_Mutation_p.R199Q	NM_001003845.2	NP_001003845.1	Q6BEB4	SP5_HUMAN	Sp5 transcription factor						bone morphogenesis (GO:0060349)|post-anal tail morphogenesis (GO:0036342)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						AGTGCGCTCTCGCGAGCCGGG	0.746																																																	0																																										SO:0001631	upstream_gene_variant	0				CCDS33322.1	2q31	2013-01-08			ENSG00000204335	ENSG00000204335		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	14529	protein-coding gene	gene with protein product		609391					Standard	NM_001003845		Approved		uc002uge.3	Q6BEB4	OTTHUMG00000154053		2.37:g.171570358C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R199Q	ENST00000375281.3	37	c.596	CCDS33322.1	2	.	.	.	.	.	.	.	.	.	.	C	10.96	1.499828	0.26861	.	.	ENSG00000222033	ENST00000409786	.	.	.	3.36	0.4	0.16331	.	.	.	.	.	T	0.44456	0.1294	.	.	.	.	.	.	D	0.69078	0.997	P	0.54346	0.749	T	0.50491	-0.8822	6	0.87932	D	0	.	2.1717	0.03851	0.1991:0.4925:0.1936:0.1147	.	199	E9PB92	.	Q	199	.	ENSP00000387118:R199Q	R	-	2	0	AC007405.2	171278604	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.980000	0.03770	0.065000	0.16485	0.561000	0.74099	CGA	AC007405.2	-	NULL		0.746	SP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000222033	Clone_based_vega_gene	protein_coding	OTTHUMT00000333670.1	C	XM_371581		171570358	-1	no_errors	ENST00000409786	ensembl	human	novel	70_37	missense	SNP	0.000	T
CCL3	6348	genome.wustl.edu	37	17	34415880	34415880	+	3'UTR	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:34415880C>A	ENST00000225245.5	-	0	499				AC069363.1_ENST00000441575.1_RNA|AC069363.1_ENST00000592728.1_RNA|AC069363.1_ENST00000590992.1_RNA	NM_002983.2	NP_002974.1	P10147	CCL3_HUMAN	chemokine (C-C motif) ligand 3						astrocyte cell migration (GO:0043615)|behavior (GO:0007610)|calcium ion transport (GO:0006816)|calcium-mediated signaling (GO:0019722)|cell activation (GO:0001775)|cell-cell signaling (GO:0007267)|cellular calcium ion homeostasis (GO:0006874)|cellular response to interferon-gamma (GO:0071346)|cellular response to interleukin-1 (GO:0071347)|cellular response to organic cyclic compound (GO:0071407)|cellular response to tumor necrosis factor (GO:0071356)|chemotaxis (GO:0006935)|cytoskeleton organization (GO:0007010)|eosinophil chemotaxis (GO:0048245)|eosinophil degranulation (GO:0043308)|exocytosis (GO:0006887)|granulocyte chemotaxis (GO:0071621)|inflammatory response (GO:0006954)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|lymphocyte chemotaxis (GO:0048247)|macrophage chemotaxis (GO:0048246)|MAPK cascade (GO:0000165)|monocyte chemotaxis (GO:0002548)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of bone mineralization (GO:0030502)|negative regulation of gene expression (GO:0010629)|negative regulation of osteoclast differentiation (GO:0045671)|neutrophil chemotaxis (GO:0030593)|osteoblast differentiation (GO:0001649)|positive chemotaxis (GO:0050918)|positive regulation of calcium ion import (GO:0090280)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of catalytic activity (GO:0043085)|positive regulation of cell migration (GO:0030335)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of natural killer cell chemotaxis (GO:2000503)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of tumor necrosis factor production (GO:0032760)|protein kinase B signaling (GO:0043491)|protein phosphorylation (GO:0006468)|regulation of cell shape (GO:0008360)|regulation of sensory perception of pain (GO:0051930)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to cholesterol (GO:0070723)|response to toxic substance (GO:0009636)|signaling (GO:0023052)|T cell chemotaxis (GO:0010818)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)	calcium-dependent protein kinase C activity (GO:0004698)|CCR1 chemokine receptor binding (GO:0031726)|CCR5 chemokine receptor binding (GO:0031730)|chemoattractant activity (GO:0042056)|chemokine activity (GO:0008009)|identical protein binding (GO:0042802)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|protein kinase activity (GO:0004672)			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAAGAGTCCCACAGTGTGGC	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	0			M23178	CCDS11307.1	17q12	2014-05-06	2002-08-22	2002-08-23	ENSG00000006075	ENSG00000277632		"""Chemokine ligands"", ""Endogenous ligands"""	10627	protein-coding gene	gene with protein product		182283	"""small inducible cytokine A3 (homologous to mouse Mip-1a)"""	SCYA3			Standard	NM_002983		Approved	G0S19-1, LD78ALPHA, MIP-1-alpha	uc002hkv.3	P10147	OTTHUMG00000188413	ENST00000225245.5:c.*138G>T	17.37:g.34415880C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000225245.5	37	NULL	CCDS11307.1	17																																																																																			AC069363.1	-	-		0.418	CCL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224298	Clone_based_vega_gene	protein_coding	OTTHUMT00000256581.1	C	NM_002983		34415880	+1	no_errors	ENST00000592728	ensembl	human	known	70_37	rna	SNP	0.001	A
PLG	5340	genome.wustl.edu	37	6	161121592	161121592	+	5'Flank	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:161121592G>C	ENST00000308192.9	+	0	0				RP1-81D8.3_ENST00000448126.1_lincRNA|PLG_ENST00000366924.2_5'Flank	NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen						blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion mediated by cadherin (GO:2000048)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of fibrinolysis (GO:0051918)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of fibrinolysis (GO:0051919)|tissue remodeling (GO:0048771)	blood microparticle (GO:0072562)|cell surface (GO:0009986)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	apolipoprotein binding (GO:0034185)|protein domain specific binding (GO:0019904)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Aprotinin(DB06692)|Reteplase(DB00015)|Streptokinase(DB00086)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACAGGCTACAGAGTGCGGTGG	0.557																																																	0																																										SO:0001631	upstream_gene_variant	0			M74220	CCDS5279.1, CCDS55074.1	6q26	2012-10-02			ENSG00000122194	ENSG00000122194			9071	protein-coding gene	gene with protein product		173350					Standard	NM_000301		Approved		uc003qtm.4	P00747	OTTHUMG00000015957		6.37:g.161121592G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15146|Q5TEH4|Q6PA00	RNA	SNP	-	NULL	ENST00000308192.9	37	NULL	CCDS5279.1	6																																																																																			RP1-81D8.3	-	-		0.557	PLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000224477	Clone_based_vega_gene	protein_coding	OTTHUMT00000042959.2	G	NM_000301		161121592	+1	no_errors	ENST00000447702	ensembl	human	known	70_37	rna	SNP	0.001	C
FMO2	2327	genome.wustl.edu	37	1	171168640	171168640	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:171168640C>T	ENST00000209929.7	+	5	785				RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_Intron|RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000441535.1_Intron|RP1-127D3.4_ENST00000422841.1_RNA			P31512	FMO4_HUMAN	flavin containing monooxygenase 2 (non-functional)						drug catabolic process (GO:0042737)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GTGATGCTCTCTGCTTACCAT	0.493																																																	0													121.0	125.0	124.0					1																	171168640		2203	4300	6503	SO:0001627	intron_variant	0			BC005894	CCDS1293.1	1q24.3	2011-08-04	2006-07-17		ENSG00000094963	ENSG00000094963			3770	protein-coding gene	gene with protein product		603955	"""flavin containing monooxygenase 2"""			1417778, 9804831	Standard	XR_426768		Approved		uc001ghk.1	Q99518	OTTHUMG00000035504	ENST00000209929.7:c.627+13C>T	1.37:g.171168640C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XR0	RNA	SNP	-	NULL	ENST00000209929.7	37	NULL	CCDS1293.1	1																																																																																			RP1-127D3.4	-	-		0.493	FMO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225243	Clone_based_vega_gene	protein_coding	OTTHUMT00000086216.2	C	NM_001460		171168640	-1	no_errors	ENST00000422841	ensembl	human	known	70_37	rna	SNP	0.715	T
RP11-672F9.1	0	genome.wustl.edu	37	10	38622073	38622073	+	lincRNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:38622073G>C	ENST00000450980.1	+	0	415																											TAGAAGCCTTGAAATTAAAGG	0.328																																																	0																																												0																															10.37:g.38622073G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000450980.1	37	NULL		10																																																																																			RP11-672F9.1	-	-		0.328	RP11-672F9.1-001	KNOWN	basic	lincRNA	ENSG00000226113	Clone_based_vega_gene	lincRNA	OTTHUMT00000047630.1	G			38622073	+1	no_errors	ENST00000450980	ensembl	human	known	70_37	rna	SNP	1.000	C
LOC101927093	101927093	genome.wustl.edu	37	17	28903075	28903075	+	RNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:28903075C>T	ENST00000583030.1	+	0	0				AC006050.2_ENST00000436477.2_RNA																							GAAAAATCCTCCAGGAACACA	0.552																																																	0																																												0																															17.37:g.28903075C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000583030.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	.	13.03	2.114197	0.37339	.	.	ENSG00000231421	ENST00000436477	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	61	.	ENSP00000403555:W61X	W	-	3	0	AC006050.2	25927201	0.161000	0.22892	0.106000	0.21319	0.106000	0.19336	0.138000	0.16016	0.121000	0.18284	0.123000	0.15791	TGG	AC006050.2	-	-		0.552	AC005562.1-005	KNOWN	basic	processed_transcript	ENSG00000231421	Clone_based_vega_gene	processed_transcript	OTTHUMT00000444252.1	C			28903075	-1	no_errors	ENST00000436477	ensembl	human	known	70_37	rna	SNP	0.115	T
IGKC	3514	genome.wustl.edu	37	2	89156812	89156812	+	RNA	SNP	G	G	T	rs17037501	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:89156812G>T	ENST00000390237.2	-	0	384				AC096579.7_ENST00000430694.1_RNA|AC096579.13_ENST00000452230.1_RNA			P01834	IGKC_HUMAN	immunoglobulin kappa constant						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|immune response (GO:0006955)|innate immune response (GO:0045087)|regulation of immune response (GO:0050776)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	antigen binding (GO:0003823)										AAAAGGGTCAGAGGCCAAAGG	0.562																																																	0																																												0			J00241		2p11.2	2013-01-14			ENSG00000211592	ENSG00000211592		"""Immunoglobulins / IGK locus"""	5716	other	immunoglobulin gene		147200				10354514	Standard	NG_000834		Approved	HCAK1		P01834	OTTHUMG00000151684		2.37:g.89156812G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000390237.2	37	NULL		2																																																																																			AC096579.7	-	-		0.562	IGKC-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	IG_C_gene	ENSG00000231486	Clone_based_vega_gene	IG_C_gene	OTTHUMT00000323482.1	G	NG_000834		89156812	-1	no_errors	ENST00000430694	ensembl	human	known	70_37	rna	SNP	0.002	T
LOC101929268	101929268	genome.wustl.edu	37	8	49503250	49503250	+	lincRNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:49503250C>T	ENST00000430626.1	+	0	290				RP11-770E5.1_ENST00000522575.1_RNA																							TTGTTTGTCTCAGCTGCAGGT	0.547																																																	0													133.0	117.0	122.0					8																	49503250		692	1591	2283			0																															8.37:g.49503250C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000430626.1	37	NULL		8																																																																																			AC026904.1	-	-		0.547	AC026904.1-001	KNOWN	basic	lincRNA	ENSG00000233858	Clone_based_vega_gene	lincRNA	OTTHUMT00000280498.1	C			49503250	+1	no_errors	ENST00000430626	ensembl	human	known	70_37	rna	SNP	0.021	T
LOC100996415	100996415	genome.wustl.edu	37	22	20331829	20331829	+	lincRNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:20331829C>T	ENST00000458154.1	-	0	59				XXbac-B33L19.3_ENST00000454636.1_RNA																							GTTGAGTGCTCACTGAACTCC	0.498																																																	0																																												0																															22.37:g.20331829C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000458154.1	37	NULL		22																																																																																			XXbac-B33L19.4	-	-		0.498	XXbac-B33L19.4-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000235578	Clone_based_vega_gene	lincRNA	OTTHUMT00000319056.1	C			20331829	-1	no_errors	ENST00000458154	ensembl	human	known	70_37	rna	SNP	0.004	T
FAM27B	100133121	genome.wustl.edu	37	9	67793799	67793799	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:67793799G>C	ENST00000377484.3	-	1	215				RP11-12A20.7_ENST00000315762.5_RNA			Q5VT28	FAM27_HUMAN	family with sequence similarity 27, member B																		ttctgctcacgacgagaacga	0.607																																																	0																																										SO:0001627	intron_variant	0					9q13	2014-05-06			ENSG00000170215	ENSG00000278763			23667	other	unknown							Standard	NR_027422		Approved	bA12A20.3, FAM27A2	uc004aet.4	Q5VT28	OTTHUMG00000188586	ENST00000377484.3:c.78+97C>G	9.37:g.67793799G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000377484.3	37	NULL		9																																																																																			RP11-12A20.7	-	-		0.607	FAM27B-001	KNOWN	basic|appris_principal	protein_coding	ENSG00000236233	Clone_based_vega_gene	protein_coding	OTTHUMT00000037106.1	G	NR_027422		67793799	+1	no_errors	ENST00000315762	ensembl	human	known	70_37	rna	SNP	0.017	C
MAZ	4150	genome.wustl.edu	37	16	29821265	29821265	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:29821265G>A	ENST00000322945.6	+	5	1444				MAZ_ENST00000545521.1_Intron|AC009133.14_ENST00000563806.1_RNA|AC009133.15_ENST00000566537.1_RNA|AC009133.14_ENST00000569981.1_RNA|MAZ_ENST00000562337.1_Intron|MAZ_ENST00000563402.1_Intron|MAZ_ENST00000568544.1_Intron|PRRT2_ENST00000300797.6_5'Flank|MAZ_ENST00000568282.1_Intron|PRRT2_ENST00000358758.7_5'Flank|MAZ_ENST00000566906.2_Intron|MAZ_ENST00000219782.6_Intron|PRRT2_ENST00000567659.1_5'Flank|AC009133.20_ENST00000569039.1_RNA	NM_002383.2	NP_002374.2	P56270	MAZ_HUMAN	MYC-associated zinc finger protein (purine-binding transcription factor)						positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|termination of RNA polymerase II transcription (GO:0006369)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			endometrium(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						GATGCAGGCTGAGGCCTCTGG	0.602																																					Colon(72;875 1167 15364 30899 37091)												0																																										SO:0001627	intron_variant	0			M93339	CCDS42143.1, CCDS42144.1, CCDS61902.1, CCDS61903.1	16p11.2	2013-01-08			ENSG00000103495	ENSG00000103495		"""Zinc fingers, C2H2-type"""	6914	protein-coding gene	gene with protein product		600999				1567856, 1502157	Standard	NM_001276275		Approved	ZF87, Pur-1, Zif87, ZNF801	uc002dtx.4	P56270	OTTHUMG00000132119	ENST00000322945.6:c.1280-133G>A	16.37:g.29821265G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8QJL9|C6G496|G5E927|H3BQD6|Q15703|Q8NFN7|Q99443	RNA	SNP	-	NULL	ENST00000322945.6	37	NULL	CCDS42143.1	16																																																																																			AC009133.14	-	-		0.602	MAZ-001	KNOWN	basic|CCDS	protein_coding	ENSG00000238045	Clone_based_vega_gene	protein_coding	OTTHUMT00000435536.1	G	NM_002383		29821265	-1	no_errors	ENST00000416168	ensembl	human	known	70_37	rna	SNP	0.000	A
CPSF1P1	129099	genome.wustl.edu	37	22	32665566	32665566	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:32665566C>G	ENST00000434942.1	+	0	789																											GTCATCTGATCTCTCACCAGC	0.597																																																	0																																												0																															22.37:g.32665566C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000434942.1	37	NULL		22																																																																																			RP1-90G24.10	-	-		0.597	RP1-90G24.10-001	KNOWN	basic	antisense	ENSG00000242082	Clone_based_vega_gene	antisense	OTTHUMT00000315736.1	C			32665566	+1	no_errors	ENST00000434942	ensembl	human	known	70_37	rna	SNP	1.000	G
LRBA	987	genome.wustl.edu	37	4	151500783	151500783	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:151500783G>C	ENST00000357115.3	-	41	6607				LRBA_ENST00000507224.1_Intron|LRBA_ENST00000510413.1_Intron|RP11-1336O20.2_ENST00000507934.1_RNA|LRBA_ENST00000503716.1_Intron|LRBA_ENST00000535741.1_Intron|MAB21L2_ENST00000317605.4_5'Flank	NM_006726.4	NP_006717.2	P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							cytoplasmic membrane-bounded vesicle (GO:0016023)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AAGGATGCGAGAAAACTTAGC	0.517																																																	0																																										SO:0001627	intron_variant	0			AF216648	CCDS3773.1, CCDS58928.1	4q13	2013-01-10		2001-10-05	ENSG00000198589	ENSG00000198589		"""WD repeat domain containing"""	1742	protein-coding gene	gene with protein product		606453		CDC4L		1505956, 11254716	Standard	NM_006726		Approved	BGL, LAB300, LBA	uc010ipj.3	P50851	OTTHUMG00000161443	ENST00000357115.3:c.6363+8416C>G	4.37:g.151500783G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5J4|Q4W5L6|Q8NFQ0|Q9H2U3|Q9H2U4	RNA	SNP	-	NULL	ENST00000357115.3	37	NULL	CCDS3773.1	4																																																																																			RP11-1336O20.2	-	-		0.517	LRBA-002	KNOWN	basic|CCDS	protein_coding	ENSG00000249690	Clone_based_vega_gene	protein_coding	OTTHUMT00000364939.1	G			151500783	+1	no_errors	ENST00000507934	ensembl	human	known	70_37	rna	SNP	0.000	C
FTH1P11	2503	genome.wustl.edu	37	8	82433957	82433957	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:82433957G>C	ENST00000524085.2	+	0	450				RP11-257P3.3_ENST00000518637.1_RNA|RP11-257P3.3_ENST00000523380.1_RNA																							GCTTGTCGAAGAGATATTCTG	0.517																																																	0																																												0																															8.37:g.82433957G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000524085.2	37	NULL		8																																																																																			RP11-257P3.3	-	-		0.517	RP11-157I4.4-001	KNOWN	basic|exp_conf	antisense	ENSG00000253374	Clone_based_vega_gene	antisense	OTTHUMT00000379364.2	G			82433957	+1	no_errors	ENST00000518637	ensembl	human	known	70_37	rna	SNP	1.000	C
FTH1P11	2503	genome.wustl.edu	37	8	82433986	82433986	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:82433986C>G	ENST00000524085.2	+	0	479				RP11-257P3.3_ENST00000518637.1_RNA|RP11-257P3.3_ENST00000523380.1_RNA																							GATTCGGGCGCTCCCATCTTG	0.498																																																	0																																												0																															8.37:g.82433986C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000524085.2	37	NULL		8																																																																																			RP11-257P3.3	-	-		0.498	RP11-157I4.4-001	KNOWN	basic|exp_conf	antisense	ENSG00000253374	Clone_based_vega_gene	antisense	OTTHUMT00000379364.2	C			82433986	+1	no_errors	ENST00000518637	ensembl	human	known	70_37	rna	SNP	1.000	G
LOC730102	730102	genome.wustl.edu	37	1	178003886	178003886	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:178003886G>C	ENST00000476232.2	-	0	212					NR_037167.1																						GATCACGGCAGATCAAAATAT	0.438																																																	0																																												0																															1.37:g.178003886G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000476232.2	37	NULL		1																																																																																			RP4-798P15.3	-	-		0.438	RP11-568K15.1-002	KNOWN	basic	processed_transcript	ENSG00000254154	Clone_based_vega_gene	pseudogene	OTTHUMT00000337461.2	G			178003886	-1	no_errors	ENST00000464428	ensembl	human	known	70_37	rna	SNP	0.919	C
RAB1B	81876	genome.wustl.edu	37	11	66044847	66044847	+	3'UTR	SNP	C	C	T	rs564876428	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:66044847C>T	ENST00000311481.6	+	0	1891				RP11-867G23.3_ENST00000501708.1_lincRNA|CNIH2_ENST00000311445.6_5'Flank|RP11-867G23.4_ENST00000528650.1_RNA|RP11-867G23.4_ENST00000526951.1_RNA|CNIH2_ENST00000528852.1_5'Flank	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family						ER to Golgi vesicle-mediated transport (GO:0006888)|positive regulation of glycoprotein metabolic process (GO:1903020)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|virion assembly (GO:0019068)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						AGGTTCCCCTCTGGTGTCATG	0.542																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AJ245875	CCDS31613.1	11q13.1	2008-02-05			ENSG00000174903	ENSG00000174903		"""RAB, member RAS oncogene"""	18370	protein-coding gene	gene with protein product		612565				9030196	Standard	NM_030981		Approved		uc001ohf.3	Q9H0U4	OTTHUMG00000166916	ENST00000311481.6:c.*1138C>T	11.37:g.66044847C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7S1	RNA	SNP	-	NULL	ENST00000311481.6	37	NULL	CCDS31613.1	11																																																																																			RP11-867G23.4	-	-		0.542	RAB1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254452	Clone_based_vega_gene	protein_coding	OTTHUMT00000391886.2	C	NM_030981		66044847	-1	no_errors	ENST00000526951	ensembl	human	known	70_37	rna	SNP	1.000	T
ZBTB8B	728116	genome.wustl.edu	37	1	32936792	32936792	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:32936792G>C	ENST00000609129.1	+	2	645	c.567G>C	c.(565-567)ctG>ctC	p.L189L	RP1-27O5.3_ENST00000480336.1_Silent_p.L189L	NM_001145720.1	NP_001139192.1	Q8NAP8	ZBT8B_HUMAN	zinc finger and BTB domain containing 8B	189					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(1)	1						TGGAGTGCCTGAGAGAGTCCC	0.612																																																	0													32.0	34.0	34.0					1																	32936792		692	1591	2283	SO:0001819	synonymous_variant	0			AL442095	CCDS44104.1	1p35.1	2013-01-08			ENSG00000215897	ENSG00000273274		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	37057	protein-coding gene	gene with protein product							Standard	NM_001145720		Approved	RP1-27O5.1, DKFZp547H154, ZNF916B	uc001bvl.4	Q8NAP8	OTTHUMG00000167087	ENST00000609129.1:c.567G>C	1.37:g.32936792G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15DG5|Q5VXR5|Q69YT7	Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L189	ENST00000609129.1	37	c.567	CCDS44104.1	1																																																																																			RP1-27O5.3	-	NULL		0.612	ZBTB8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000254553	Clone_based_vega_gene	protein_coding	OTTHUMT00000392986.2	G	NM_001145720		32936792	+1	no_errors	ENST00000480336	ensembl	human	known	70_37	silent	SNP	0.000	C
FEZ1	9638	genome.wustl.edu	37	11	125365289	125365289	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:125365289C>G	ENST00000278919.3	-	1	190				FEZ1_ENST00000366139.3_Intron|AP000708.1_ENST00000527818.1_Missense_Mutation_p.S22W|FEZ1_ENST00000524435.1_5'UTR	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular response to growth factor stimulus (GO:0071363)|establishment of mitochondrion localization (GO:0051654)|nervous system development (GO:0007399)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|transport (GO:0006810)	axon (GO:0030424)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		GATACCTCCTCGACGCCGTCA	0.692																																					Melanoma(180;509 2033 10762 15939 24711)												0																																										SO:0001627	intron_variant	0			U60060	CCDS31716.1, CCDS44758.1	11q24.2	2005-09-29			ENSG00000149557	ENSG00000149557			3659	protein-coding gene	gene with protein product		604825				9096408, 15843383	Standard	NM_005103		Approved		uc001qbx.3	Q99689	OTTHUMG00000165886	ENST00000278919.3:c.44+727G>C	11.37:g.125365289C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O00679|O00728|Q6IBI7	Missense_Mutation	SNP	NULL	p.S22W	ENST00000278919.3	37	c.65	CCDS31716.1	11	.	.	.	.	.	.	.	.	.	.	C	9.654	1.142264	0.21205	.	.	ENSG00000255537	ENST00000527818	.	.	.	2.54	-2.05	0.07321	.	.	.	.	.	T	0.40694	0.1127	.	.	.	0.18873	N	0.999989	D	0.65815	0.995	P	0.58266	0.836	T	0.32214	-0.9915	7	0.87932	D	0	.	0.2557	0.00211	0.2267:0.3123:0.1897:0.2713	.	22	Q8IYB0	YK038_HUMAN	W	22	.	ENSP00000434154:S22W	S	+	2	0	AP000708.1	124870499	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.763000	0.04740	-0.502000	0.06596	-0.397000	0.06425	TCG	AP000708.1	-	NULL		0.692	FEZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000255537	Clone_based_vega_gene	protein_coding	OTTHUMT00000386875.1	C	NM_005103		125365289	+1	no_errors	ENST00000527818	ensembl	human	putative	70_37	missense	SNP	0.000	G
PPP1R12A	4659	genome.wustl.edu	37	12	80328896	80328896	+	5'UTR	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:80328896G>T	ENST00000450142.2	-	0	82				PPP1R12A_ENST00000261207.5_Intron|PPP1R12A_ENST00000550107.1_5'Flank|PPP1R12A_ENST00000437004.2_Intron|RP11-84G21.1_ENST00000552885.1_RNA	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A						centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						GCACCCGGCCGAGCGGACCTC	0.662																																																	0																																										SO:0001623	5_prime_UTR_variant	0			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.-185C>A	12.37:g.80328896G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	RNA	SNP	-	NULL	ENST00000450142.2	37	NULL	CCDS44947.1	12																																																																																			RP11-84G21.1	-	-		0.662	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257557	Clone_based_vega_gene	protein_coding	OTTHUMT00000407254.2	G	NM_002480		80328896	+1	no_errors	ENST00000552885	ensembl	human	known	70_37	rna	SNP	0.862	T
C15orf27	123591	genome.wustl.edu	37	15	76467873	76467873	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:76467873C>G	ENST00000388942.3	+	8	928				RP11-593F23.1_ENST00000558424.1_RNA	NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27						calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|membrane depolarization during action potential (GO:0086010)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CTGCTGAATTCTTTACAGGGC	0.572																																																	0													46.0	42.0	43.0					15																	76467873		2197	4294	6491	SO:0001627	intron_variant	0			AK095509	CCDS10289.2	15q23-q24.1	2012-09-27			ENSG00000169758	ENSG00000169758			26763	protein-coding gene	gene with protein product						14702039, 22020278	Standard	NM_152335		Approved	FLJ38190	uc002bbq.3	Q2M3C6	OTTHUMG00000142918	ENST00000388942.3:c.653-27C>G	15.37:g.76467873C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N993|Q96LL5	RNA	SNP	-	NULL	ENST00000388942.3	37	NULL	CCDS10289.2	15																																																																																			RP11-593F23.1	-	-		0.572	C15orf27-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000259422	Clone_based_vega_gene	protein_coding	OTTHUMT00000286637.2	C	NM_152335		76467873	-1	no_errors	ENST00000558424	ensembl	human	known	70_37	rna	SNP	0.000	G
HOMEZ	57594	genome.wustl.edu	37	14	23745586	23745586	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:23745586G>A	ENST00000357460.5	-	2	1015	c.851C>T	c.(850-852)tCt>tTt	p.S284F	HOMEZ_ENST00000561013.1_Missense_Mutation_p.S286F|HOMEZ_ENST00000431326.2_Missense_Mutation_p.S286F	NM_020834.2	NP_065885.2	Q8IX15	HOMEZ_HUMAN	homeobox and leucine zipper encoding	284	Poly-Ser.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGGAAGAAGAGGGAGTAAC	0.522																																																	0													68.0	72.0	71.0					14																	23745586		2138	4232	6370	SO:0001583	missense	0			AB037864	CCDS45085.1	14q11.2	2011-06-20	2007-02-15	2007-02-15		ENSG00000215271		"""Homeoboxes / ZF class"""	20164	protein-coding gene	gene with protein product		608119	"""KIAA1443"""	KIAA1443		12925734	Standard	NM_020834		Approved		uc001wja.2	Q8IX15		ENST00000357460.5:c.851C>T	14.37:g.23745586G>A	ENSP00000350049:p.Ser284Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L445|B4DZ80|F8WCA3|Q6P049|Q86XB6|Q9P2A5	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.S286F	ENST00000357460.5	37	c.857	CCDS45085.1	14	.	.	.	.	.	.	.	.	.	.	G	15.43	2.832062	0.50845	.	.	ENSG00000215271	ENST00000357460;ENST00000431326	T;T	0.25749	1.78;1.78	6.04	6.04	0.98038	.	0.478627	0.23863	N	0.043829	T	0.27933	0.0688	N	0.24115	0.695	0.18873	N	0.999982	P;P	0.44195	0.763;0.828	P;B	0.47528	0.549;0.44	T	0.12016	-1.0564	10	0.54805	T	0.06	-7.587	17.5116	0.87761	0.0:0.0:1.0:0.0	.	286;284	F8WCA3;Q8IX15	.;HOMEZ_HUMAN	F	284;286	ENSP00000350049:S284F;ENSP00000406579:S286F	ENSP00000350049:S284F	S	-	2	0	HOMEZ	22815426	0.802000	0.28943	0.937000	0.37676	0.965000	0.64279	2.359000	0.44142	2.873000	0.98535	0.563000	0.77884	TCT	RP11-124D2.6	-	NULL		0.522	HOMEZ-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENSG00000260175	Clone_based_vega_gene	protein_coding	OTTHUMT00000416939.2	G	NM_020834		23745586	-1	no_errors	ENST00000431326	ensembl	human	known	70_37	missense	SNP	0.480	A
POLR2C	5432	genome.wustl.edu	37	16	57496530	57496530	+	5'UTR	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:57496530C>A	ENST00000219252.5	+	0	232				AC009052.12_ENST00000567090.1_RNA	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CGCTGTGAGTCGTCTTTGCGG	0.652											OREG0023826	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	0				CCDS10782.1	16q13-q21	2013-01-21	2002-08-29		ENSG00000102978	ENSG00000102978		"""RNA polymerase subunits"""	9189	protein-coding gene	gene with protein product	"""RNA polymerase II subunit 3"""	180663	"""polymerase (RNA) II (DNA directed) polypeptide C (33kD)"""			8034326	Standard	NM_032940		Approved	RPB3	uc002elt.1	P19387	OTTHUMG00000133464	ENST00000219252.5:c.-107C>A	16.37:g.57496530C>A		Somatic	1023	WXS	Illumina HiSeq	Phase_IV	O15161	RNA	SNP	-	NULL	ENST00000219252.5	37	NULL	CCDS10782.1	16																																																																																			AC009052.12	-	-		0.652	POLR2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260345	Clone_based_vega_gene	protein_coding	OTTHUMT00000257340.3	C	NM_032940		57496530	+1	no_errors	ENST00000567090	ensembl	human	known	70_37	rna	SNP	0.001	A
RP11-160C18.2	0	genome.wustl.edu	37	15	79023387	79023387	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:79023387C>G	ENST00000568337.1	+	0	82																											CCGCAATAATCAATCAACTAA	0.517																																																	0																																												0																															15.37:g.79023387C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000568337.1	37	NULL		15																																																																																			RP11-160C18.2	-	-		0.517	RP11-160C18.2-004	KNOWN	basic	processed_transcript	ENSG00000261303	Clone_based_vega_gene	pseudogene	OTTHUMT00000421327.1	C			79023387	+1	no_errors	ENST00000568337	ensembl	human	known	70_37	rna	SNP	1.000	G
ITPRIPL2	162073	genome.wustl.edu	37	16	19132882	19132882	+	3'UTR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:19132882G>C	ENST00000381440.3	+	0	7629				RP11-626G11.3_ENST00000567236.1_RNA|CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2							integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TTTGCACTTTGAATCATGTGG	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS32395.1	16p12.3	2011-04-28	2011-04-28		ENSG00000205730	ENSG00000205730			27257	protein-coding gene	gene with protein product			"""inositol 1,4,5-triphosphate receptor interacting protein-like 2"""				Standard	NM_001034841		Approved	FLJ22994, MGC126798, MGC126800, LOC162073	uc002dfu.4	Q3MIP1		ENST00000381440.3:c.*5491G>C	16.37:g.19132882G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000381440.3	37	NULL	CCDS32395.1	16																																																																																			RP11-626G11.3	-	-		0.413	ITPRIPL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000261759	Clone_based_vega_gene	protein_coding	OTTHUMT00000435827.3	G	NM_001034841		19132882	-1	no_errors	ENST00000567236	ensembl	human	known	70_37	rna	SNP	0.274	C
NFATC3	4775	genome.wustl.edu	37	16	68260232	68260232	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:68260232C>G	ENST00000346183.3	+	10	3130				RP11-96D1.11_ENST00000571197.1_RNA|NFATC3_ENST00000329524.4_Intron|NFATC3_ENST00000349223.5_Intron|NFATC3_ENST00000535127.2_Intron|RP11-96D1.10_ENST00000571975.1_RNA	NM_173165.2	NP_775188.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3						cellular respiration (GO:0045333)|cellular response to calcium ion (GO:0071277)|cellular response to lithium ion (GO:0071285)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|muscle cell development (GO:0055001)|patterning of blood vessels (GO:0001569)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smooth muscle cell differentiation (GO:0051145)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ACTAATCACTCTCCCTTTTCT	0.493																																																	0													119.0	112.0	114.0					16																	68260232		2198	4300	6498	SO:0001627	intron_variant	0			L41067	CCDS10860.1, CCDS10861.1, CCDS10862.1	16q22	2009-11-24			ENSG00000072736	ENSG00000072736		"""Nuclear factor of activated T-cells"""	7777	protein-coding gene	gene with protein product		602698				7749981	Standard	NM_004555		Approved	NFAT4, NFATX	uc002evo.2	Q12968	OTTHUMG00000137555	ENST00000346183.3:c.3107-21C>G	16.37:g.68260232C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O75211|Q14516|Q99840|Q99841|Q99842	RNA	SNP	-	NULL	ENST00000346183.3	37	NULL	CCDS10860.1	16																																																																																			RP11-96D1.11	-	-		0.493	NFATC3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000262160	Clone_based_vega_gene	protein_coding	OTTHUMT00000268890.2	C	NM_004555		68260232	-1	no_errors	ENST00000571197	ensembl	human	known	70_37	rna	SNP	0.235	G
RP11-271K11.5	0	genome.wustl.edu	37	17	29369282	29369282	+	RNA	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:29369282G>A	ENST00000583112.1	-	0	634																		p.?(1)									AATTTTCACTGAGAATTCTGG	0.343																																																	1	Unknown(1)	central_nervous_system(1)																																										0																															17.37:g.29369282G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000583112.1	37	NULL		17																																																																																			RP11-271K11.5	-	-		0.343	RP11-271K11.5-002	KNOWN	basic	processed_transcript	ENSG00000265798	Clone_based_vega_gene	pseudogene	OTTHUMT00000444574.1	G			29369282	-1	no_errors	ENST00000581652	ensembl	human	known	70_37	rna	SNP	0.977	A
AC092364.4	0	genome.wustl.edu	37	19	21880247	21880247	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:21880247C>G	ENST00000579236.1	+	0	39																											gctggggcttccaAAtgttgt	0.542																																																	0																																												0																															19.37:g.21880247C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000579236.1	37	NULL		19																																																																																			AC092364.4	-	-		0.542	AC092364.4-201	NOVEL	basic	miRNA	ENSG00000266008	Clone_based_ensembl_gene	miRNA		C			21880247	+1	no_errors	ENST00000579236	ensembl	human	novel	70_37	rna	SNP	0.036	G
NFE2L1	4779	genome.wustl.edu	37	17	46138014	46138014	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:46138014G>A	ENST00000362042.3	+	0	3946				NFE2L1_ENST00000361665.3_3'UTR|NFE2L1_ENST00000357480.5_3'UTR|NFE2L1_ENST00000585291.1_3'UTR|RP5-890E16.4_ENST00000583349.1_RNA	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1						anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)			cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAGAGGAATGATGGAGAATC	0.582																																																	0																																										SO:0001624	3_prime_UTR_variant	0			AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.*1011G>A	17.37:g.46138014G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTU3|D3DTU5|Q12877|Q96FN6	RNA	SNP	-	NULL	ENST00000362042.3	37	NULL	CCDS11524.1	17																																																																																			RP5-890E16.4	-	-		0.582	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266341	Clone_based_vega_gene	protein_coding	OTTHUMT00000443019.1	G	NM_003204		46138014	-1	no_errors	ENST00000583349	ensembl	human	known	70_37	rna	SNP	0.039	A
KRT18P14	119722	genome.wustl.edu	37	11	35882269	35882269	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:35882269G>C	ENST00000580945.1	-	0	25																											TCAATCTGCTGAGACGAGTAC	0.532																																																	0																																												0																															11.37:g.35882269G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000580945.1	37	NULL		11																																																																																			AC090692.1	-	-		0.532	AC090692.1-201	NOVEL	basic	miRNA	ENSG00000266590	Clone_based_ensembl_gene	miRNA		G			35882269	-1	no_errors	ENST00000580945	ensembl	human	novel	70_37	rna	SNP	0.850	C
PPY2P	23614	genome.wustl.edu	37	17	26574919	26574919	+	lincRNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:26574919G>C	ENST00000579045.1	-	0	113				PPY2_ENST00000583761.1_RNA																							TGGAGAAAGAGACAAAGAGGA	0.622																																																	0																																												0																															17.37:g.26574919G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000579045.1	37	NULL		17																																																																																			CTD-2008P7.8	-	-		0.622	CTD-2008P7.8-001	KNOWN	basic	lincRNA	ENSG00000266830	Clone_based_vega_gene	lincRNA	OTTHUMT00000446190.1	G			26574919	-1	no_errors	ENST00000579045	ensembl	human	known	70_37	rna	SNP	0.698	C
SP2	6668	genome.wustl.edu	37	17	46007130	46007130	+	IGR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:46007130G>C	ENST00000376741.4	+	0	3112				AC003665.1_ENST00000585280.1_RNA|RP11-6N17.3_ENST00000584276.1_RNA|AC003665.1_ENST00000433001.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor						cardiovascular system development (GO:0072358)|embryonic organ development (GO:0048568)|fibroblast proliferation (GO:0048144)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						CATCCGGCCTGAAGAGACAGG	0.517																																																	0																																										SO:0001628	intergenic_variant	0				CCDS11521.2	17q21.3-q22	2013-01-08			ENSG00000167182	ENSG00000167182		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	11207	protein-coding gene	gene with protein product		601801				1341900, 9730617	Standard	NM_003110		Approved	KIAA0048	uc002imk.3	Q02086	OTTHUMG00000150196		17.37:g.46007130G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK74	RNA	SNP	-	NULL	ENST00000376741.4	37	NULL	CCDS11521.2	17																																																																																			RP11-6N17.3	-	-		0.517	SP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000266601	Clone_based_vega_gene	protein_coding	OTTHUMT00000316777.1	G	NM_003110		46007130	-1	no_errors	ENST00000584276	ensembl	human	known	70_37	rna	SNP	0.007	C
ZNF835	90485	genome.wustl.edu	37	19	57184089	57184089	+	5'Flank	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:57184089C>T	ENST00000537055.2	-	0	0				AC007228.5_ENST00000599726.1_lincRNA|AC007228.9_ENST00000602145.1_lincRNA	NM_001005850.2	NP_001005850.2	Q9Y2P0	ZN835_HUMAN	zinc finger protein 835						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCACAACATTCTGAATACAAA	0.388																																																	0																																										SO:0001631	upstream_gene_variant	0			AK023017	CCDS56105.1	19q13.43	2013-01-08			ENSG00000127903	ENSG00000127903		"""Zinc fingers, C2H2-type"""	34332	protein-coding gene	gene with protein product							Standard	NM_001005850		Approved	BC37295_3	uc010ygn.2	Q9Y2P0			19.37:g.57184089C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5Y0|G3V1S0	RNA	SNP	-	NULL	ENST00000537055.2	37	NULL	CCDS56105.1	19																																																																																			AC007228.9	-	-		0.388	ZNF835-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000268568	Clone_based_vega_gene	protein_coding	OTTHUMT00000459800.1	C	NM_001005850		57184089	-1	no_errors	ENST00000602145	ensembl	human	known	70_37	rna	SNP	0.994	T
EP300	2033	genome.wustl.edu	37	22	41574358	41574358	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:41574358C>T	ENST00000263253.7	+	31	7862	c.6643C>T	c.(6643-6645)Caa>Taa	p.Q2215*	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2215	Interaction with NCOA2.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.Q2215K(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGCAACCCCAAGGAGTTGG	0.552			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	1	Substitution - Missense(1)	kidney(1)											56.0	56.0	56.0					22																	41574358		2203	4300	6503	SO:0001587	stop_gained	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.6643C>T	22.37:g.41574358C>T	ENSP00000263253:p.Gln2215*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	Nonsense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.Q2215*	ENST00000263253.7	37	c.6643	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	52	19.960466	0.99925	.	.	ENSG00000100393	ENST00000263253	.	.	.	5.5	5.5	0.81552	.	0.148708	0.30464	N	0.009576	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.39692	T	0.17	-6.2778	19.3945	0.94601	0.0:1.0:0.0:0.0	.	.	.	.	X	2215	.	ENSP00000263253:Q2215X	Q	+	1	0	EP300	39904304	0.101000	0.21875	1.000000	0.80357	0.981000	0.71138	1.591000	0.36665	2.581000	0.87130	0.655000	0.94253	CAA	EP300	-	NULL		0.552	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429		41574358	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	nonsense	SNP	1.000	T
EPS8	2059	genome.wustl.edu	37	12	15793665	15793665	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:15793665G>A	ENST00000281172.5	-	17	2229	c.1793C>T	c.(1792-1794)gCt>gTt	p.A598V	EPS8_ENST00000543612.1_Missense_Mutation_p.A598V|EPS8_ENST00000540613.1_Missense_Mutation_p.A338V|EPS8_ENST00000542903.1_Missense_Mutation_p.A338V|EPS8_ENST00000543523.1_Missense_Mutation_p.A598V	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	598					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		AGGTGGATCAGCACGCCCCAA	0.378																																																	0													110.0	96.0	101.0					12																	15793665		2203	4300	6503	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.1793C>T	12.37:g.15793665G>A	ENSP00000281172:p.Ala598Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	pfam_PTB,pfam_SH3_domain,pfam_PTyr_interaction_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTyr_interaction_dom,smart_SH3_domain,pfscan_SH3_domain	p.A598V	ENST00000281172.5	37	c.1793	CCDS31753.1	12	.	.	.	.	.	.	.	.	.	.	G	14.13	2.444221	0.43429	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000540613;ENST00000542903;ENST00000543223	T;T;T;T;T	0.21932	1.98;1.98;1.98;1.98;1.98	4.59	4.59	0.56863	Src homology-3 domain (1);	0.824694	0.11378	N	0.570091	T	0.18882	0.0453	L	0.42245	1.32	0.31152	N	0.705336	B	0.06786	0.001	B	0.12156	0.007	T	0.05273	-1.0895	10	0.22109	T	0.4	-7.5524	10.5892	0.45300	0.092:0.0:0.908:0.0	.	598	Q12929	EPS8_HUMAN	V	598;598;598;338;338;598	ENSP00000441867:A598V;ENSP00000281172:A598V;ENSP00000442388:A598V;ENSP00000441888:A338V;ENSP00000437806:A338V	ENSP00000281172:A598V	A	-	2	0	EPS8	15684932	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.203000	0.65174	2.540000	0.85666	0.655000	0.94253	GCT	EPS8	-	superfamily_SH3_domain		0.378	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS8	HGNC	protein_coding	OTTHUMT00000401093.1	G			15793665	-1	no_errors	ENST00000281172	ensembl	human	known	70_37	missense	SNP	1.000	A
EP400	57634	genome.wustl.edu	37	12	132445647	132445647	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:132445647C>T	ENST00000333577.4	+	2	592	c.483C>T	c.(481-483)ctC>ctT	p.L161L	EP400_ENST00000330386.6_Silent_p.L161L|EP400_ENST00000332482.4_Silent_p.L161L|EP400_ENST00000389561.2_Silent_p.L161L|EP400_ENST00000389562.2_Silent_p.L161L			Q96L91	EP400_HUMAN	E1A binding protein p400	161					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.L161L(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GGCTGGGCCTCTGCAGCAGCA	0.667																																																	1	Substitution - coding silent(1)	lung(1)											31.0	27.0	28.0					12																	132445647		2202	4298	6500	SO:0001819	synonymous_variant	57634			U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.483C>T	12.37:g.132445647C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	pfam_SNF2_N,pfam_HSA,pfam_Helicase_C,superfamily_Homeodomain-like,smart_HAS_subgr,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Myb-like_dom,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.L161	ENST00000333577.4	37	c.483		12																																																																																			EP400	-	NULL		0.667	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	EP400	HGNC	protein_coding		C	NM_015409		132445647	+1	no_errors	ENST00000333577	ensembl	human	known	70_37	silent	SNP	0.223	T
ERAL1	26284	genome.wustl.edu	37	17	27182228	27182228	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:27182228C>T	ENST00000254928.5	+	1	273	c.176C>T	c.(175-177)tCg>tTg	p.S59L	FAM222B_ENST00000583953.1_5'Flank|ERAL1_ENST00000578001.1_3'UTR	NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	59					ribosomal small subunit assembly (GO:0000028)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|rRNA binding (GO:0019843)			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			CGCTTGGCCTCGGCTTCTCGC	0.637																																																	0													63.0	60.0	61.0					17																	27182228		2203	4300	6503	SO:0001583	missense	26284			AF082657	CCDS11244.1	17q11.2	2013-05-22	2013-05-22		ENSG00000132591	ENSG00000132591			3424	protein-coding gene	gene with protein product		607435	"""Era (E. coli G-protein homolog)-like 1"", ""Era G-protein-like 1 (E. coli)"""			10945472, 20604745	Standard	NM_005702		Approved	HERA-B	uc002hcy.1	O75616	OTTHUMG00000132675	ENST00000254928.5:c.176C>T	17.37:g.27182228C>T	ENSP00000254928:p.Ser59Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN21|C9JEC6|O75617|Q8WUY4|Q96LE2|Q96TC0	Missense_Mutation	SNP	pfam_GTP_binding_domain,pfam_MIRO-like,pfam_Dynamin_GTPase,pfam_AIG1,pfam_EF_GTP-bd_dom,pfam_Fe2_transport_prot_B_N,superfamily_KH_prok-type,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.S59L	ENST00000254928.5	37	c.176	CCDS11244.1	17	.	.	.	.	.	.	.	.	.	.	C	7.447	0.641896	0.14451	.	.	ENSG00000132591	ENST00000254928	.	.	.	4.95	2.97	0.34412	.	0.560427	0.17674	N	0.165860	T	0.41373	0.1156	M	0.68317	2.08	0.09310	N	1	B;B	0.14438	0.007;0.01	B;B	0.09377	0.001;0.004	T	0.26121	-1.0112	9	0.33940	T	0.23	-0.0937	6.7528	0.23497	0.0:0.7961:0.0:0.2039	.	59;59	O75616;O75616-2	ERAL1_HUMAN;.	L	59	.	ENSP00000254928:S59L	S	+	2	0	ERAL1	24206354	0.000000	0.05858	0.011000	0.14972	0.024000	0.10985	0.712000	0.25779	1.462000	0.47948	0.561000	0.74099	TCG	ERAL1	-	NULL		0.637	ERAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERAL1	HGNC	protein_coding	OTTHUMT00000255937.2	C			27182228	+1	no_errors	ENST00000254928	ensembl	human	known	70_37	missense	SNP	0.001	T
ERBB2	2064	genome.wustl.edu	37	17	37883623	37883623	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:37883623G>A	ENST00000269571.5	+	26	3394	c.3235G>A	c.(3235-3237)Gaa>Aaa	p.E1079K	ERBB2_ENST00000584450.1_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.E1049K|MIEN1_ENST00000474210.1_5'Flank|ERBB2_ENST00000540147.1_Missense_Mutation_p.E1049K|ERBB2_ENST00000406381.2_Missense_Mutation_p.E1049K|ERBB2_ENST00000541774.1_Missense_Mutation_p.E1064K|ERBB2_ENST00000445658.2_Missense_Mutation_p.E803K|MIR4728_ENST00000580969.1_RNA			P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	1079					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|enzyme linked receptor protein signaling pathway (GO:0007167)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|motor neuron axon guidance (GO:0008045)|myelination (GO:0042552)|negative regulation of immature T cell proliferation in thymus (GO:0033088)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine phosphorylation (GO:0018108)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of angiogenesis (GO:0045765)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of microtubule-based process (GO:0032886)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome membrane (GO:0010008)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|ErbB-3 class receptor binding (GO:0043125)|identical protein binding (GO:0042802)|protein C-terminus binding (GO:0008022)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|RNA polymerase I core binding (GO:0001042)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	all_cancers(6;1.06e-93)|all_epithelial(6;2.33e-113)|Breast(7;9.37e-100)|Lung NSC(9;9.76e-10)|all_lung(9;5.34e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Lapatinib(DB01259)|Pertuzumab(DB06366)|Trastuzumab(DB00072)	GGCACCCTCCGAAGGGGCTGG	0.617		1	"""A, Mis, O"""		"""breast, ovarian, other tumour types, NSCLC, gastric"""					TCGA GBM(5;<1E-08)																														Dom	yes		17	17q21.1	2064	"""v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian)"""		E	0													33.0	38.0	36.0					17																	37883623		2203	4300	6503	SO:0001583	missense	2064			X03363	CCDS32642.1, CCDS45667.1, CCDS74052.1	17q11.2-q12	2014-09-17	2013-07-09			ENSG00000141736		"""CD molecules"""	3430	protein-coding gene	gene with protein product	"""neuro/glioblastoma derived oncogene homolog"""	164870	"""v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2 (neuro/glioblastoma derived oncogene homolog)"""	NGL			Standard	XM_005257140		Approved	NEU, HER-2, CD340, HER2	uc002hso.3	P04626		ENST00000269571.5:c.3235G>A	17.37:g.37883623G>A	ENSP00000269571:p.Glu1079Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RZG3|B4DHN3|Q14256|Q6LDV1|Q9UMK4|X5D2V5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E1079K	ENST00000269571.5	37	c.3235	CCDS32642.1	17	.	.	.	.	.	.	.	.	.	.	G	11.02	1.515097	0.27123	.	.	ENSG00000141736	ENST00000406381;ENST00000541774;ENST00000445658;ENST00000269571;ENST00000540147	T;T;T;T;T	0.75260	-0.92;-0.92;-0.9;-0.92;-0.92	5.41	4.38	0.52667	.	.	.	.	.	T	0.56016	0.1957	L	0.44542	1.39	0.50632	D	0.999884	P;P;D	0.53745	0.898;0.769;0.962	B;B;B	0.35353	0.201;0.158;0.178	T	0.58103	-0.7695	9	0.07644	T	0.81	.	9.7393	0.40409	0.0:0.1509:0.6932:0.1558	.	803;1064;1079	B4DTR1;P04626-4;P04626	.;.;ERBB2_HUMAN	K	1049;1064;803;1079;1049	ENSP00000385185:E1049K;ENSP00000446466:E1064K;ENSP00000404047:E803K;ENSP00000269571:E1079K;ENSP00000443562:E1049K	ENSP00000269571:E1079K	E	+	1	0	ERBB2	35137149	0.004000	0.15560	0.960000	0.40013	0.444000	0.32077	0.914000	0.28624	2.515000	0.84797	0.561000	0.74099	GAA	ERBB2	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.617	ERBB2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB2	HGNC	protein_coding	OTTHUMT00000445621.2	G			37883623	+1	no_errors	ENST00000269571	ensembl	human	known	70_37	missense	SNP	0.537	A
ERBB3	2065	genome.wustl.edu	37	12	56489566	56489566	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56489566G>A	ENST00000267101.3	+	17	2471	c.2031G>A	c.(2029-2031)atG>atA	p.M677I	ERBB3_ENST00000450146.2_Missense_Mutation_p.M34I|ERBB3_ENST00000415288.2_Missense_Mutation_p.M618I|ERBB3_ENST00000549832.1_5'Flank|ERBB3_ENST00000553131.1_5'Flank	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	677					cranial nerve development (GO:0021545)|endocardial cushion development (GO:0003197)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of cell adhesion (GO:0007162)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of secretion (GO:0051048)|negative regulation of signal transduction (GO:0009968)|neuron apoptotic process (GO:0051402)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell proliferation (GO:0042127)|Schwann cell differentiation (GO:0014037)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein tyrosine kinase activator activity (GO:0030296)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			AAAGGGCTATGAGGCGATACT	0.433																																																	0													151.0	138.0	142.0					12																	56489566		2203	4300	6503	SO:0001583	missense	2065			M34309	CCDS31833.1, CCDS44918.1	12q13	2013-07-09	2013-07-09			ENSG00000065361			3431	protein-coding gene	gene with protein product		190151	"""lethal congenital contracture syndrome 2"""	LCCS2			Standard	NM_001982		Approved	HER3	uc001sjh.3	P21860	OTTHUMG00000170140	ENST00000267101.3:c.2031G>A	12.37:g.56489566G>A	ENSP00000267101:p.Met677Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L6|B4DIK7|B4DV32|E9PDT8|Q9BUD7	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Furin-like_Cys-rich_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M677I	ENST00000267101.3	37	c.2031	CCDS31833.1	12	.	.	.	.	.	.	.	.	.	.	G	24.9	4.577105	0.86645	.	.	ENSG00000065361	ENST00000267101;ENST00000450146;ENST00000415288	T;T;T	0.76839	-1.05;-1.01;-1.05	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.76990	0.4065	L	0.29908	0.895	0.80722	D	1	P;P	0.45569	0.86;0.861	P;P	0.51170	0.661;0.471	T	0.78881	-0.2029	10	0.52906	T	0.07	.	16.9268	0.86178	0.0:0.0:1.0:0.0	.	618;677	P21860-4;P21860	.;ERBB3_HUMAN	I	677;34;618	ENSP00000267101:M677I;ENSP00000399178:M34I;ENSP00000408340:M618I	ENSP00000267101:M677I	M	+	3	0	ERBB3	54775833	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.854000	0.86942	2.540000	0.85666	0.655000	0.94253	ATG	ERBB3	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt		0.433	ERBB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERBB3	HGNC	protein_coding	OTTHUMT00000407619.3	G			56489566	+1	no_errors	ENST00000267101	ensembl	human	known	70_37	missense	SNP	1.000	A
ERMN	57471	genome.wustl.edu	37	2	158178248	158178248	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:158178248C>T	ENST00000410096.1	-	3	681	c.390G>A	c.(388-390)caG>caA	p.Q130Q	ERMN_ENST00000420719.2_Silent_p.Q110Q|ERMN_ENST00000397283.2_Silent_p.Q143Q|ERMN_ENST00000535935.1_Silent_p.Q24Q|ERMN_ENST00000409216.1_3'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	130					actin filament organization (GO:0007015)|morphogenesis of a branching structure (GO:0001763)|regulation of cell projection organization (GO:0031344)|regulation of cell shape (GO:0008360)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|internode region of axon (GO:0033269)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|paranode region of axon (GO:0033270)		p.Q143H(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCCTCTCCTTCTGTCTTCTTA	0.448																																																	1	Substitution - Missense(1)	endometrium(1)											85.0	81.0	82.0					2																	158178248		1900	4124	6024	SO:0001819	synonymous_variant	57471			AB033015	CCDS42764.1, CCDS46431.1	2q24	2008-02-05	2008-01-15	2008-01-15	ENSG00000136541	ENSG00000136541			29208	protein-coding gene	gene with protein product	"""juxtanodin"", ""ermin"""	610072	"""KIAA1189"""	KIAA1189		16051705, 16421295	Standard	NM_020711		Approved	JN, ERMIN	uc002tzi.3	Q8TAM6	OTTHUMG00000153843	ENST00000410096.1:c.390G>A	2.37:g.158178248C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKA6|Q9ULN1	Silent	SNP	superfamily_Moesin	p.Q143	ENST00000410096.1	37	c.429	CCDS46431.1	2																																																																																			ERMN	-	NULL		0.448	ERMN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ERMN	HGNC	protein_coding	OTTHUMT00000332659.1	C	NM_001009959		158178248	-1	no_errors	ENST00000397283	ensembl	human	known	70_37	silent	SNP	0.000	T
ERVMER34-1	100288413	genome.wustl.edu	37	4	53611528	53611528	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:53611528C>T	ENST00000443173.1	-	3	1020	c.160G>A	c.(160-162)Gaa>Aaa	p.E54K	SNORA26_ENST00000391188.1_RNA|ERVMER34-1_ENST00000440542.1_Missense_Mutation_p.E54K|ERVMER34-1_ENST00000540758.1_Missense_Mutation_p.E54K|ERVMER34-1_ENST00000454756.2_Intron	NM_001242690.1	NP_001229619.1	Q9H9K5	MER34_HUMAN	endogenous retrovirus group MER34, member 1	54						integral component of membrane (GO:0016021)|viral envelope (GO:0019031)				endometrium(3)|kidney(1)	4						tcgggttgttctgcattatct	0.443																																																	0													126.0	111.0	116.0					4																	53611528		692	1591	2283	SO:0001583	missense	100288413					4q12	2011-10-20			ENSG00000226887	ENSG00000226887			42970	other	endogenous retrovirus							Standard	NM_024534		Approved		uc003gzs.3	Q9H9K5	OTTHUMG00000150366	ENST00000443173.1:c.160G>A	4.37:g.53611528C>T	ENSP00000460602:p.Glu54Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTB4|Q0P5R3|Q6NWN0	Missense_Mutation	SNP	pfam_TLV/ENV_coat_polyprotein	p.E54K	ENST00000443173.1	37	c.160		4																																																																																			ERVMER34-1	-	NULL		0.443	ERVMER34-1-002	KNOWN	alternative_5_UTR|basic|appris_principal	protein_coding	ERVMER34-1	HGNC	protein_coding	OTTHUMT00000317860.2	C	NM_024534		53611528	-1	no_errors	ENST00000440542	ensembl	human	known	70_37	missense	SNP	0.006	T
ESYT2	57488	genome.wustl.edu	37	7	158580781	158580781	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:158580781G>A	ENST00000251527.5	-	6	870	c.805C>T	c.(805-807)Cat>Tat	p.H269Y		NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	297	Glycerophospholipid-binding barrel-like domain.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						ATGGTACCATGAATCTAAACT	0.408																																																	0													94.0	88.0	90.0					7																	158580781		2203	4300	6503	SO:0001583	missense	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.805C>T	7.37:g.158580781G>A	ENSP00000251527:p.His269Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.H269Y	ENST00000251527.5	37	c.805	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	G	18.85	3.712264	0.68730	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000429474	T;T	0.23950	1.88;1.88	5.41	5.41	0.78517	.	0.045404	0.85682	D	0.000000	T	0.51635	0.1686	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74023	0.982;0.982	T	0.46247	-0.9205	10	0.46703	T	0.11	-19.3528	18.568	0.91124	0.0:0.0:1.0:0.0	.	297;269	A0FGR8-6;A0FGR8-2	.;.	Y	269;297;239;93	ENSP00000251527:H269Y;ENSP00000275418:H239Y	ENSP00000251527:H269Y	H	-	1	0	ESYT2	158273542	1.000000	0.71417	0.995000	0.50966	0.357000	0.29423	8.982000	0.93471	2.712000	0.92718	0.650000	0.86243	CAT	ESYT2	-	NULL		0.408	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	G	NM_020728		158580781	-1	no_errors	ENST00000251527	ensembl	human	known	70_37	missense	SNP	1.000	A
ESYT3	83850	genome.wustl.edu	37	3	138178868	138178868	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:138178868C>T	ENST00000389567.4	+	6	916	c.730C>T	c.(730-732)Cag>Tag	p.Q244*	ESYT3_ENST00000289135.4_Nonsense_Mutation_p.Q244*	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	244	Glycerophospholipid-binding barrel-like domain. {ECO:0000250}.				lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|organelle membrane contact site (GO:0044232)	lipid binding (GO:0008289)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTTCTTCCTTCAGAAGCCGGT	0.602																																																	0													56.0	53.0	54.0					3																	138178868		2203	4300	6503	SO:0001587	stop_gained	83850			AJ303366	CCDS3101.2	3q22.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000158220	ENSG00000158220		"""Synaptotagmins"""	24295	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member C"""	FAM62C		11543631, 17672888	Standard	NM_031913		Approved	CHR3SYT	uc003esk.3	A0FGR9	OTTHUMG00000147354	ENST00000389567.4:c.730C>T	3.37:g.138178868C>T	ENSP00000374218:p.Gln244*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0G5|Q6ZV21|Q8NDZ5|Q9BQR9	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_C2_dom	p.Q244*	ENST00000389567.4	37	c.730	CCDS3101.2	3	.	.	.	.	.	.	.	.	.	.	C	29.7	5.029713	0.93518	.	.	ENSG00000158220	ENST00000389567;ENST00000289135	.	.	.	5.08	4.19	0.49359	.	0.126738	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-18.5719	6.8233	0.23868	0.1729:0.7355:0.0:0.0916	.	.	.	.	X	244	.	ENSP00000289135:Q244X	Q	+	1	0	ESYT3	139661558	0.180000	0.23148	0.875000	0.34327	0.976000	0.68499	1.746000	0.38288	1.109000	0.41680	0.542000	0.68232	CAG	ESYT3	-	NULL		0.602	ESYT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT3	HGNC	protein_coding	OTTHUMT00000303993.1	C	NM_031913		138178868	+1	no_errors	ENST00000389567	ensembl	human	known	70_37	nonsense	SNP	0.019	T
EVX2	344191	genome.wustl.edu	37	2	176947126	176947126	+	Nonsense_Mutation	SNP	G	G	C	rs540666894	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:176947126G>C	ENST00000308618.4	-	2	615	c.479C>G	c.(478-480)tCa>tGa	p.S160*		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	160					limb morphogenesis (GO:0035108)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCCGAGGCCTGAGCCCGACGC	0.697																																																	0													17.0	19.0	19.0					2																	176947126		2072	4109	6181	SO:0001587	stop_gained	344191				CCDS33333.1	2q31.1	2012-03-09	2007-02-15		ENSG00000174279	ENSG00000174279		"""Homeoboxes / ANTP class : HOXL subclass"""	3507	protein-coding gene	gene with protein product		142991	"""eve, even-skipped homeobox homolog 2 (Drosophila)"""			1675198	Standard	NM_001080458		Approved		uc010zeu.2	Q03828	OTTHUMG00000154173	ENST00000308618.4:c.479C>G	2.37:g.176947126G>C	ENSP00000312385:p.Ser160*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Antifreeze_1,prints_Homeobox_metazoa	p.S160*	ENST00000308618.4	37	c.479	CCDS33333.1	2	.	.	.	.	.	.	.	.	.	.	G	21.0	4.085532	0.76642	.	.	ENSG00000174279	ENST00000308618	.	.	.	4.72	4.72	0.59763	.	0.428743	0.24776	N	0.035699	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33141	T	0.24	-12.8909	17.8636	0.88789	0.0:0.0:1.0:0.0	.	.	.	.	X	160	.	ENSP00000312385:S160X	S	-	2	0	EVX2	176655372	1.000000	0.71417	0.626000	0.29213	0.048000	0.14542	6.191000	0.72063	2.465000	0.83290	0.655000	0.94253	TCA	EVX2	-	NULL		0.697	EVX2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	EVX2	HGNC	protein_coding	OTTHUMT00000359252.1	G			176947126	-1	no_errors	ENST00000308618	ensembl	human	known	70_37	nonsense	SNP	0.243	C
EXOG	9941	genome.wustl.edu	37	3	38565708	38565708	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38565708C>G	ENST00000287675.5	+	6	1058	c.962C>G	c.(961-963)tCa>tGa	p.S321*	EXOG_ENST00000358249.2_Intron|EXOG_ENST00000422077.2_Nonsense_Mutation_p.S271*	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	321					DNA catabolic process, endonucleolytic (GO:0000737)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGAGCCCGATCAGTGCTCAGA	0.428																																																	0													90.0	95.0	93.0					3																	38565708		2203	4300	6503	SO:0001587	stop_gained	9941			AB020523	CCDS2680.1, CCDS46795.1	3p21.3	2010-05-07	2009-01-08	2009-01-08	ENSG00000157036	ENSG00000157036	3.1.30.-		3347	protein-coding gene	gene with protein product		604051	"""endonuclease G-like 1"", ""endonuclease G-like 2"""	ENDOGL1, ENDOGL2		10231028, 18187503	Standard	NM_005107		Approved	ENGL-a, ENGL, ENGL-b	uc003cih.2	Q9Y2C4	OTTHUMG00000131295	ENST00000287675.5:c.962C>G	3.37:g.38565708C>G	ENSP00000287675:p.Ser321*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K242|B4DVG2|Q3SXM9|Q9Y2C8	Nonsense_Mutation	SNP	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A	p.S321*	ENST00000287675.5	37	c.962	CCDS2680.1	3	.	.	.	.	.	.	.	.	.	.	C	17.38	3.374901	0.61735	.	.	ENSG00000157036	ENST00000287675;ENST00000422077	.	.	.	5.54	5.54	0.83059	.	0.335683	0.26723	N	0.022826	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-10.4963	14.5085	0.67769	0.1465:0.8535:0.0:0.0	.	.	.	.	X	321;271	.	ENSP00000287675:S321X	S	+	2	0	EXOG	38540712	0.933000	0.31639	0.178000	0.23040	0.988000	0.76386	4.062000	0.57492	2.884000	0.98904	0.655000	0.94253	TCA	EXOG	-	NULL		0.428	EXOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOG	HGNC	protein_coding	OTTHUMT00000254063.2	C	NM_005107		38565708	+1	no_errors	ENST00000287675	ensembl	human	known	70_37	nonsense	SNP	0.368	G
EYA2	2139	genome.wustl.edu	37	20	45630107	45630107	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:45630107C>G	ENST00000327619.5	+	3	524	c.150C>G	c.(148-150)ttC>ttG	p.F50L	EYA2_ENST00000357410.3_Missense_Mutation_p.F50L|EYA2_ENST00000317304.6_Missense_Mutation_p.F50L	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	EYA transcriptional coactivator and phosphatase 2	50					DNA repair (GO:0006281)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|histone dephosphorylation (GO:0016576)|mesodermal cell fate specification (GO:0007501)|mitochondrial outer membrane permeabilization (GO:0097345)|peptidyl-tyrosine dephosphorylation (GO:0035335)|regulation of transcription, DNA-templated (GO:0006355)|striated muscle tissue development (GO:0014706)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				CCCAGCTCTTCTCCAGGTGAG	0.507																																					Pancreas(120;56 1725 18501 25218 43520)												0													135.0	119.0	125.0					20																	45630107		2203	4300	6503	SO:0001583	missense	2139				CCDS13403.1, CCDS54471.1	20q13.1	2014-06-19	2014-06-19		ENSG00000064655	ENSG00000064655		"""Protein tyrosine phosphatases / Asp-based PTPs"""	3520	protein-coding gene	gene with protein product		601654	"""eyes absent (Drosophila) homolog 2"", ""eyes absent homolog 2 (Drosophila)"""			9020840	Standard	NM_005244		Approved	EAB1	uc002xsm.3	O00167	OTTHUMG00000033041	ENST00000327619.5:c.150C>G	20.37:g.45630107C>G	ENSP00000333640:p.Phe50Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSW8|Q86U84|Q96CV6|Q96H97|Q99503|Q99812|Q9BWF6|Q9H4S3|Q9H4S9|Q9NPZ4|Q9UIX7	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_EYA	p.F50L	ENST00000327619.5	37	c.150	CCDS13403.1	20	.	.	.	.	.	.	.	.	.	.	C	9.130	1.011275	0.19277	.	.	ENSG00000064655	ENST00000327619;ENST00000357410;ENST00000484200;ENST00000317304;ENST00000458636	D;D;D;T	0.91686	-2.89;-2.49;-2.87;-0.58	4.29	-8.57	0.00900	.	1.225540	0.05542	N	0.565912	T	0.82079	0.4959	N	0.22421	0.69	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.04013	0.001;0.0;0.0;0.0	T	0.53662	-0.8407	10	0.66056	D	0.02	-20.3383	3.6335	0.08141	0.0896:0.1159:0.2909:0.5036	.	50;50;50;50	O00167-3;E7ETN2;A8KAG7;O00167	.;.;.;EYA2_HUMAN	L	50;50;50;50;3	ENSP00000333640:F50L;ENSP00000349986:F50L;ENSP00000321590:F50L;ENSP00000395427:F3L	ENSP00000321590:F50L	F	+	3	2	EYA2	45063514	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.843000	0.04350	-3.298000	0.00193	-0.300000	0.09419	TTC	EYA2	-	NULL		0.507	EYA2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	EYA2	HGNC	protein_coding	OTTHUMT00000080326.2	C	NM_005244		45630107	+1	no_errors	ENST00000327619	ensembl	human	known	70_37	missense	SNP	0.000	G
EYS	346007	genome.wustl.edu	37	6	64430725	64430725	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:64430725C>T	ENST00000370621.3	-	44	9791	c.9265G>A	c.(9265-9267)Gag>Aag	p.E3089K	EYS_ENST00000370616.2_Missense_Mutation_p.E3089K|EYS_ENST00000503581.1_Missense_Mutation_p.E3068K			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	3089	Laminin G-like 5. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TCAATATCCTCGGAAAGAATT	0.343																																																	0													50.0	40.0	43.0					6																	64430725		692	1589	2281	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.9265G>A	6.37:g.64430725C>T	ENSP00000359655:p.Glu3089Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.E3089K	ENST00000370621.3	37	c.9265		6	.	.	.	.	.	.	.	.	.	.	C	15.30	2.793450	0.50102	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	T;T;T	0.78595	-1.19;-1.19;-1.19	4.3	-1.48	0.08745	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.243894	0.32120	N	0.006545	T	0.47619	0.1455	M	0.64997	1.995	0.80722	D	1	B;B	0.33841	0.374;0.428	B;B	0.29942	0.066;0.109	T	0.35748	-0.9776	10	0.23302	T	0.38	.	4.5916	0.12310	0.0:0.4244:0.2997:0.2759	.	3068;3089	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	K	3068;3089;3089	ENSP00000424243:E3068K;ENSP00000359655:E3089K;ENSP00000359650:E3089K	ENSP00000359650:E3089K	E	-	1	0	EYS	64488684	1.000000	0.71417	0.004000	0.12327	0.832000	0.47134	0.887000	0.28254	-0.637000	0.05516	0.655000	0.94253	GAG	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.343	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		64430725	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.995	T
EYS	346007	genome.wustl.edu	37	6	64431558	64431558	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:64431558C>G	ENST00000370621.3	-	44	8958	c.8432G>C	c.(8431-8433)aGa>aCa	p.R2811T	EYS_ENST00000370616.2_Missense_Mutation_p.R2811T|EYS_ENST00000503581.1_Missense_Mutation_p.R2790T			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	2811	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TGCACCAACTCTTCCTGCTTT	0.388																																																	0													297.0	230.0	251.0					6																	64431558		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.8432G>C	6.37:g.64431558C>G	ENSP00000359655:p.Arg2811Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.R2811T	ENST00000370621.3	37	c.8432		6	.	.	.	.	.	.	.	.	.	.	C	18.32	3.597408	0.66332	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;T;T	0.82526	-1.62;-0.7;-0.7	4.71	3.84	0.44239	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 1 (1);	0.000000	0.64402	U	0.000003	D	0.85818	0.5785	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.992;0.993	D	0.84048	0.0368	10	0.22706	T	0.39	.	10.7015	0.45931	0.0:0.9112:0.0:0.0888	.	2790;2811	Q5T1H1-1;Q5T1H1	.;EYS_HUMAN	T	2790;2811;2811	ENSP00000424243:R2790T;ENSP00000359655:R2811T;ENSP00000359650:R2811T	ENSP00000359650:R2811T	R	-	2	0	EYS	64489517	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.119000	0.64679	0.968000	0.38212	0.650000	0.86243	AGA	EYS	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.388	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		64431558	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	1.000	G
EZH1	2145	genome.wustl.edu	37	17	40857136	40857136	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40857136C>T	ENST00000428826.2	-	17	2026	c.1905G>A	c.(1903-1905)aaG>aaA	p.K635K	EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000590078.1_Silent_p.K565K|EZH1_ENST00000415827.2_Silent_p.K626K|EZH1_ENST00000592743.1_Silent_p.K635K|EZH1_ENST00000435174.1_Silent_p.K496K|EZH1_ENST00000585893.1_Silent_p.K595K			Q92800	EZH1_HUMAN	enhancer of zeste 1 polycomb repressive complex 2 subunit	635	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				anatomical structure morphogenesis (GO:0009653)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	ESC/E(Z) complex (GO:0035098)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K27 specific) (GO:0046976)			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TGAATTCGTTCTTCTGCACAG	0.527																																																	0													96.0	90.0	92.0					17																	40857136		2203	4300	6503	SO:0001819	synonymous_variant	2145				CCDS32659.1	17q21.1-q21.3	2014-05-28	2014-05-28			ENSG00000108799		"""Chromatin-modifying enzymes / K-methyltransferases"""	3526	protein-coding gene	gene with protein product		601674	"""enhancer of zeste (Drosophila) homolog 1"", ""enhancer of zeste homolog 1 (Drosophila)"""			8921387	Standard	NM_001991		Approved	KIAA0388, KMT6B	uc002iaz.3	Q92800		ENST00000428826.2:c.1905G>A	17.37:g.40857136C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCH6|B4DIJ1|B4DIZ7|B4DSS2|B4E3R7|O43287|Q14459|Q53XP3	Silent	SNP	pfam_SET_dom,pfam_EZH2_WD-Binding,superfamily_Homeodomain-like,smart_SANT/Myb,smart_SET_dom,pfscan_SET_dom	p.K635	ENST00000428826.2	37	c.1905	CCDS32659.1	17																																																																																			EZH1	-	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom		0.527	EZH1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	EZH1	HGNC	protein_coding	OTTHUMT00000452347.1	C	NM_001991		40857136	-1	no_errors	ENST00000428826	ensembl	human	known	70_37	silent	SNP	1.000	T
EZR	7430	genome.wustl.edu	37	6	159191802	159191802	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:159191802C>T	ENST00000367075.3	-	10	1252	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	EZR_ENST00000392177.4_Missense_Mutation_p.E330K|EZR_ENST00000337147.7_Missense_Mutation_p.E362K	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	362	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGACCTCTCTCTGCCTTCTTT	0.567			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													184.0	173.0	177.0					6																	159191802		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1084G>A	6.37:g.159191802C>T	ENSP00000356042:p.Glu362Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.E362K	ENST00000367075.3	37	c.1084	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953656	0.73902	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.81908	-1.55;-1.55;-1.55	5.43	5.43	0.79202	Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80722	0.4677	M	0.68317	2.08	0.48288	D	0.999621	B;B	0.28258	0.008;0.205	B;B	0.36092	0.013;0.217	T	0.79492	-0.1781	10	0.46703	T	0.11	.	19.2581	0.93955	0.0:1.0:0.0:0.0	.	330;362	E7EQR4;P15311	.;EZRI_HUMAN	K	362;362;330	ENSP00000338934:E362K;ENSP00000356042:E362K;ENSP00000376016:E330K	ENSP00000338934:E362K	E	-	1	0	EZR	159111790	0.963000	0.33076	0.004000	0.12327	0.293000	0.27360	2.231000	0.43009	2.547000	0.85894	0.655000	0.94253	GAG	EZR	-	pirsf_ERM,pfam_ERM_C		0.567	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159191802	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	0.001	T
F5	2153	genome.wustl.edu	37	1	169521893	169521893	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:169521893C>T	ENST00000367797.3	-	8	1399	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	F5_ENST00000367796.3_Missense_Mutation_p.E400K|F5_ENST00000546081.1_Missense_Mutation_p.E263K	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	400	F5/8 type A 2.|Plastocyanin-like 3.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	GACTCATCTTCGTACTGTGTG	0.353																																																	0													170.0	174.0	173.0					1																	169521893		2203	4300	6503	SO:0001583	missense	2153			M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.1198G>A	1.37:g.169521893C>T	ENSP00000356771:p.Glu400Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.E400K	ENST00000367797.3	37	c.1198	CCDS1281.1	1	.	.	.	.	.	.	.	.	.	.	C	8.242	0.807122	0.16467	.	.	ENSG00000198734	ENST00000367797;ENST00000367796;ENST00000546081	D;D;D	0.98937	-5.25;-5.25;-5.25	5.95	-0.775	0.10988	Cupredoxin (2);	0.608841	0.17795	N	0.161772	D	0.87402	0.6168	N	0.04880	-0.145	0.27301	N	0.957573	B	0.18166	0.026	B	0.04013	0.001	T	0.76473	-0.2946	9	0.30854	T	0.27	-2.0128	6.427	0.21776	0.0639:0.433:0.2713:0.2318	.	400	P12259	FA5_HUMAN	K	400;400;263	ENSP00000356771:E400K;ENSP00000356770:E400K;ENSP00000439664:E263K	ENSP00000356770:E400K	E	-	1	0	F5	167788517	0.615000	0.27026	0.182000	0.23118	0.734000	0.41952	0.231000	0.17872	-0.397000	0.07691	-0.176000	0.13171	GAA	F5	-	superfamily_Cupredoxin		0.353	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	F5	HGNC	protein_coding	OTTHUMT00000083712.1	C	NM_000130		169521893	-1	no_errors	ENST00000367796	ensembl	human	known	70_37	missense	SNP	0.743	T
F8A1	8263	genome.wustl.edu	37	X	154115559	154115559	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:154115559G>C	ENST00000369446.2	+	1	925	c.910G>C	c.(910-912)Gac>Cac	p.D304H	F8_ENST00000330287.6_5'Flank|F8_ENST00000360256.4_Intron|MIR1184-1_ENST00000408606.1_RNA	NM_012151.3	NP_036283.2	P23610	F8I2_HUMAN	coagulation factor VIII-associated 1	304						nucleus (GO:0005634)				endometrium(1)|lung(1)	2	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GGAGGCTTTTGACAGCCACGG	0.637																																																	0													1.0	1.0	1.0					X																	154115559		13	154	167	SO:0001583	missense	8263			M34677	CCDS35459.1	Xq28	2014-01-28	2011-04-13	2004-11-02	ENSG00000197932	ENSG00000277203			3547	protein-coding gene	gene with protein product		305423	"""coagulation factor VIII-associated (intronic transcript) 1"""	F8A		2110545	Standard	NM_012151		Approved	DXS522E	uc004fmv.3	P23610	OTTHUMG00000013500	ENST00000369446.2:c.910G>C	X.37:g.154115559G>C	ENSP00000358456:p.Asp304His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HY66|Q8IXP3	Missense_Mutation	SNP	NULL	p.D304H	ENST00000369446.2	37	c.910	CCDS35459.1	X	.	.	.	.	.	.	.	.	.	.	g	15.51	2.854880	0.51376	.	.	ENSG00000197932	ENST00000369446	T	0.21932	1.98	2.41	2.41	0.29592	.	0.066879	0.56097	U	0.000023	T	0.38321	0.1036	M	0.62723	1.935	0.24644	N	0.993554	D	0.76494	0.999	D	0.71656	0.974	T	0.04781	-1.0927	10	0.72032	D	0.01	-34.2489	10.1845	0.42988	0.0:0.0:1.0:0.0	.	304	P23610	F8I2_HUMAN	H	304	ENSP00000358456:D304H	ENSP00000358456:D304H	D	+	1	0	F8A1	153768753	0.997000	0.39634	0.864000	0.33941	0.944000	0.59088	5.060000	0.64312	1.505000	0.48720	0.478000	0.44815	GAC	F8A1	-	NULL		0.637	F8A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8A1	HGNC	protein_coding	OTTHUMT00000037637.2	G	NM_012151		154115559	+1	no_errors	ENST00000369446	ensembl	human	known	70_37	missense	SNP	0.134	C
FAHD2B	151313	genome.wustl.edu	37	2	97749843	97749843	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:97749843C>G	ENST00000414820.1	-	7	1065				FAHD2B_ENST00000468548.1_5'Flank|FAHD2B_ENST00000272610.3_Intron|FAHD2B_ENST00000440566.2_Intron			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B								hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						GTGGAGGGCTCAGGTCAGCCT	0.582																																																	0																																										SO:0001627	intron_variant	151313				CCDS2030.1	2q11.2	2012-06-29			ENSG00000144199	ENSG00000144199			25318	protein-coding gene	gene with protein product							Standard	NM_199336		Approved	DKFZp434N062	uc002sxm.3	Q6P2I3	OTTHUMG00000130533	ENST00000414820.1:c.794+62G>C	2.37:g.97749843C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXH7|Q8NDK1	RNA	SNP	-	NULL	ENST00000414820.1	37	NULL	CCDS2030.1	2																																																																																			FAHD2B	-	-		0.582	FAHD2B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAHD2B	HGNC	protein_coding	OTTHUMT00000339482.1	C	NM_199336		97749843	-1	no_errors	ENST00000467092	ensembl	human	known	70_37	rna	SNP	0.232	G
FAM105A	54491	genome.wustl.edu	37	5	14609093	14609093	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:14609093G>A	ENST00000274217.3	+	7	984	c.864G>A	c.(862-864)ctG>ctA	p.L288L		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	288	OTU.									large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					TGAATCACCTGAATTCTGTAG	0.433																																																	0													156.0	160.0	159.0					5																	14609093		2203	4300	6503	SO:0001819	synonymous_variant	54491				CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.864G>A	5.37:g.14609093G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53H50|Q9H037	Silent	SNP	prints_FAM105,prints_FAM105A	p.L288	ENST00000274217.3	37	c.864	CCDS3884.1	5																																																																																			FAM105A	-	prints_FAM105,prints_FAM105A		0.433	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM105A	HGNC	protein_coding	OTTHUMT00000253710.1	G	NM_019018		14609093	+1	no_errors	ENST00000274217	ensembl	human	known	70_37	silent	SNP	1.000	A
ABHD17C	58489	genome.wustl.edu	37	15	80988091	80988091	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:80988091C>G	ENST00000258884.4	+	1	448	c.321C>G	c.(319-321)gtC>gtG	p.V107V	ABHD17C_ENST00000558464.1_Silent_p.V107V|ABHD17C_ENST00000560609.1_Intron|RP11-28H5.2_ENST00000607458.1_lincRNA	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	107							hydrolase activity (GO:0016787)										TGGACGCCGTCGAGGTCTTCT	0.731																																																	0													3.0	3.0	3.0					15																	80988091		1872	3762	5634	SO:0001819	synonymous_variant	58489				CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.321C>G	15.37:g.80988091C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q1RMD6|Q9NPM1	Silent	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.V107	ENST00000258884.4	37	c.321	CCDS45323.1	15																																																																																			FAM108C1	-	NULL		0.731	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM108C1	HGNC	protein_coding	OTTHUMT00000417652.1	C	NM_021214		80988091	+1	no_errors	ENST00000258884	ensembl	human	known	70_37	silent	SNP	0.998	G
FAM109B	150368	genome.wustl.edu	37	22	42473571	42473571	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:42473571G>C	ENST00000321753.3	+	3	461	c.274G>C	c.(274-276)Gat>Cat	p.D92H	SMDT1_ENST00000331479.3_5'Flank|snoU13_ENST00000458891.1_RNA	NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	92	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				endosome organization (GO:0007032)|receptor recycling (GO:0001881)|retrograde transport, endosome to Golgi (GO:0042147)	clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	protein homodimerization activity (GO:0042803)			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						CATCTGCTTTGATGCCCCTGG	0.682																																																	0													79.0	83.0	82.0					22																	42473571		2203	4300	6503	SO:0001583	missense	150368			BX648402	CCDS33655.1	22q13.2	2013-01-10			ENSG00000177096	ENSG00000177096		"""Pleckstrin homology (PH) domain containing"""	27161	protein-coding gene	gene with protein product		614240				12477932	Standard	NM_001002034		Approved	DKFZp686J07229	uc003bbz.3	Q6ICB4	OTTHUMG00000151285	ENST00000321753.3:c.274G>C	22.37:g.42473571G>C	ENSP00000312753:p.Asp92His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SXQ3|Q8N6L9	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.D92H	ENST00000321753.3	37	c.274	CCDS33655.1	22	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617770	0.46736	.	.	ENSG00000177096	ENST00000321753;ENST00000419475	T;T	0.75477	-0.94;-0.94	4.92	4.92	0.64577	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.398318	0.26210	N	0.025684	T	0.79347	0.4430	N	0.25426	0.745	0.51767	D	0.999935	D	0.89917	1.0	D	0.72338	0.977	T	0.81204	-0.1039	10	0.51188	T	0.08	-6.1007	18.1157	0.89553	0.0:0.0:1.0:0.0	.	92	Q6ICB4	SESQ2_HUMAN	H	92	ENSP00000312753:D92H;ENSP00000396170:D92H	ENSP00000312753:D92H	D	+	1	0	FAM109B	40803517	0.993000	0.37304	0.966000	0.40874	0.475000	0.33008	2.445000	0.44899	2.251000	0.74343	0.591000	0.81541	GAT	FAM109B	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.682	FAM109B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM109B	HGNC	protein_coding	OTTHUMT00000322084.1	G	NM_001002034		42473571	+1	no_errors	ENST00000321753	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM111B	374393	genome.wustl.edu	37	11	58892532	58892532	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:58892532G>A	ENST00000343597.3	+	4	1153	c.962G>A	c.(961-963)aGa>aAa	p.R321K	FAM111B_ENST00000529618.1_Missense_Mutation_p.R291K|FAM111B_ENST00000411426.1_Missense_Mutation_p.R291K	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	321							catalytic activity (GO:0003824)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						GAACACAGCAGAGAGCAAATT	0.383																																																	0													76.0	88.0	84.0					11																	58892532		2191	4294	6485	SO:0001583	missense	374393			BC062456	CCDS7972.1, CCDS44611.1	11q12.1	2014-03-13			ENSG00000189057	ENSG00000189057			24200	protein-coding gene	gene with protein product		615584				24268661	Standard	NM_198947		Approved	CANP	uc001nnl.3	Q6SJ93	OTTHUMG00000167279	ENST00000343597.3:c.962G>A	11.37:g.58892532G>A	ENSP00000341565:p.Arg321Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2G2|Q6P661	Missense_Mutation	SNP	superfamily_Pept_cys/ser_Trypsin-like	p.R321K	ENST00000343597.3	37	c.962	CCDS7972.1	11	.	.	.	.	.	.	.	.	.	.	G	6.900	0.535519	0.13188	.	.	ENSG00000189057	ENST00000411426;ENST00000529618;ENST00000343597	T;T;T	0.35605	1.3;1.3;1.3	3.57	-0.548	0.11833	.	.	.	.	.	T	0.15219	0.0367	L	0.27053	0.805	0.09310	N	1	B	0.27997	0.197	B	0.21546	0.035	T	0.22836	-1.0205	9	0.06236	T	0.91	.	0.59	0.00726	0.3178:0.1707:0.3365:0.1751	.	321	Q6SJ93	F111B_HUMAN	K	291;291;321	ENSP00000393855:R291K;ENSP00000432875:R291K;ENSP00000341565:R321K	ENSP00000341565:R321K	R	+	2	0	FAM111B	58649108	0.000000	0.05858	0.009000	0.14445	0.016000	0.09150	-0.036000	0.12185	0.016000	0.14998	-0.126000	0.14955	AGA	FAM111B	-	NULL		0.383	FAM111B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM111B	HGNC	protein_coding	OTTHUMT00000393974.1	G	NM_198947		58892532	+1	no_errors	ENST00000343597	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM122B	159090	genome.wustl.edu	37	X	133923621	133923621	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:133923621G>C	ENST00000370790.1	-	3	1106				FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000486347.1_Intron|FAM122B_ENST00000343004.5_Missense_Mutation_p.Q75E|FAM122B_ENST00000298090.6_Missense_Mutation_p.Q75E	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					CTTTTGATCTGATGCAGTCTG	0.323																																																	0													103.0	81.0	88.0					X																	133923621		692	1591	2283	SO:0001627	intron_variant	159090			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461	ENST00000370790.1:c.178-325C>G	X.37:g.133923621G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	Missense_Mutation	SNP	NULL	p.Q75E	ENST00000370790.1	37	c.223	CCDS55497.1	X	.	.	.	.	.	.	.	.	.	.	G	17.67	3.446727	0.63178	.	.	ENSG00000156504	ENST00000298090;ENST00000343004	T;T	0.57107	0.42;0.42	5.97	5.09	0.68999	.	0.000000	0.64402	D	0.000007	T	0.69993	0.3173	M	0.88310	2.945	0.39025	D	0.959814	P;P;B	0.48694	0.914;0.587;0.433	P;B;B	0.51777	0.679;0.164;0.164	T	0.78409	-0.2215	10	0.87932	D	0	.	14.4436	0.67336	0.0:0.0:0.852:0.148	.	22;75;75	B4DN12;G1UD80;Q7Z309-3	.;.;.	E	75	ENSP00000298090:Q75E;ENSP00000339207:Q75E	ENSP00000298090:Q75E	Q	-	1	0	FAM122B	133751287	1.000000	0.71417	0.994000	0.49952	0.976000	0.68499	5.336000	0.65935	1.221000	0.43506	0.594000	0.82650	CAG	FAM122B	-	NULL		0.323	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	HGNC	protein_coding	OTTHUMT00000058382.1	G	NM_145284		133923621	-1	no_errors	ENST00000343004	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM122B	159090	genome.wustl.edu	37	X	133931210	133931210	+	5'Flank	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:133931210C>T	ENST00000370790.1	-	0	0				FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000486347.1_5'Flank|FAM122C_ENST00000414371.2_Intron|FAM122B_ENST00000343004.5_5'Flank|FAM122B_ENST00000298090.6_5'UTR	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B											breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					GCCAGTTCTTCCGCGTCCGGG	0.682																																																	0																																										SO:0001631	upstream_gene_variant	159090			BX538218	CCDS14643.1, CCDS55497.1, CCDS55498.1	Xq26.3	2008-02-05			ENSG00000156504	ENSG00000156504			30490	protein-coding gene	gene with protein product						12477932	Standard	NM_145284		Approved	DKFZp686L20116, RP11-308B5.5	uc004exq.3	Q7Z309	OTTHUMG00000022461		X.37:g.133931210C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K902|Q6PIM2|Q6ZU47|Q6ZV64|Q6ZVE4|Q8TB75	RNA	SNP	-	NULL	ENST00000370790.1	37	NULL	CCDS55497.1	X																																																																																			FAM122B	-	-		0.682	FAM122B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM122B	HGNC	protein_coding	OTTHUMT00000058382.1	C	NM_145284		133931210	-1	no_errors	ENST00000467413	ensembl	human	known	70_37	rna	SNP	1.000	T
FAM136A	84908	genome.wustl.edu	37	2	70528713	70528713	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:70528713C>T	ENST00000037869.3	-	1	166				FAM136A_ENST00000450256.1_Missense_Mutation_p.R37K|FAM136A_ENST00000430566.1_Intron|AC022201.5_ENST00000445084.1_RNA	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGCAGCGCCTCTGCTGGGCCT	0.687											OREG0014676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	84908			BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.87+343G>A	2.37:g.70528713C>T		Somatic	1123	WXS	Illumina HiSeq	Phase_IV	Q96SS3	Missense_Mutation	SNP	NULL	p.R37K	ENST00000037869.3	37	c.110	CCDS1904.1	2	.	.	.	.	.	.	.	.	.	.	C	9.515	1.106657	0.20714	.	.	ENSG00000035141	ENST00000450256	.	.	.	3.43	-0.302	0.12796	.	.	.	.	.	T	0.09818	0.0241	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.34304	-0.9834	5	0.06099	T	0.92	.	3.8839	0.09090	0.0:0.2349:0.3868:0.3783	.	.	.	.	K	37	.	ENSP00000391468:R37K	R	-	2	0	FAM136A	70382217	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-0.606000	0.05654	-0.056000	0.13221	-1.121000	0.02013	AGA	FAM136A	-	NULL		0.687	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM136A	HGNC	protein_coding	OTTHUMT00000251869.2	C	NM_032822		70528713	-1	no_errors	ENST00000450256	ensembl	human	novel	70_37	missense	SNP	0.000	T
FAM136A	84908	genome.wustl.edu	37	2	70528853	70528853	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:70528853C>G	ENST00000037869.3	-	1	166				FAM136A_ENST00000450256.1_Intron|FAM136A_ENST00000430566.1_Silent_p.A97A|AC022201.5_ENST00000445084.1_RNA	NM_032822.2	NP_116211.2	Q96C01	F136A_HUMAN	family with sequence similarity 136, member A							cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AAAACAGCCTCGCGCACGGCA	0.706											OREG0014676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	84908			BC014975	CCDS1904.1	2p14	2014-02-12	2007-07-10		ENSG00000035141	ENSG00000035141			25911	protein-coding gene	gene with protein product	"""hypothetical protein FLJ14668"""					12477932	Standard	NM_032822		Approved	FLJ14668	uc002sgq.4	Q96C01	OTTHUMG00000129668	ENST00000037869.3:c.87+203G>C	2.37:g.70528853C>G		Somatic	1123	WXS	Illumina HiSeq	Phase_IV	Q96SS3	Silent	SNP	pfam_DUF842_euk	p.A97	ENST00000037869.3	37	c.291	CCDS1904.1	2																																																																																			FAM136A	-	NULL		0.706	FAM136A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM136A	HGNC	protein_coding	OTTHUMT00000251869.2	C	NM_032822		70528853	-1	no_errors	ENST00000430566	ensembl	human	novel	70_37	silent	SNP	0.000	G
AC026369.1	0	genome.wustl.edu	37	12	148731	148731	+	IGR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:148731C>T	ENST00000594563.1	+	0	129				FAM138D_ENST00000320165.5_lincRNA																							tgtctataatcccaacacttt	0.453																																																	0																																										SO:0001628	intergenic_variant	677784																															12.37:g.148731C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000594563.1	37	NULL		12																																																																																			FAM138D	-	-		0.453	AC026369.1-201	NOVEL	basic|appris_principal	protein_coding	FAM138D	HGNC	protein_coding		C			148731	-1	no_errors	ENST00000320165	ensembl	human	known	70_37	rna	SNP	0.094	T
FAM13A	10144	genome.wustl.edu	37	4	89679920	89679920	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:89679920C>T	ENST00000264344.5	-	14	1918	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	FAM13A_ENST00000511976.1_Missense_Mutation_p.E157K|FAM13A_ENST00000503556.1_Missense_Mutation_p.E231K|FAM13A_ENST00000395002.2_Missense_Mutation_p.E245K|FAM13A_ENST00000508369.1_Missense_Mutation_p.E245K|FAM13A_ENST00000513837.1_Missense_Mutation_p.E217K	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	571					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CAGTTCTTTTCATCACACAAT	0.443																																																	0													108.0	105.0	106.0					4																	89679920		2203	4300	6503	SO:0001583	missense	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1711G>A	4.37:g.89679920C>T	ENSP00000264344:p.Glu571Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.E571K	ENST00000264344.5	37	c.1711	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	C	13.04	2.119097	0.37436	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000511976;ENST00000508369;ENST00000513837	T;T;T;T;T;T	0.44482	0.92;2.19;1.5;1.5;1.5;1.51	5.28	2.56	0.30785	.	0.344266	0.33235	N	0.005122	T	0.30510	0.0767	L	0.36672	1.1	0.80722	D	1	B;P;P;P;P;P;B	0.39282	0.29;0.51;0.465;0.666;0.51;0.51;0.161	B;B;B;B;B;B;B	0.36666	0.185;0.185;0.23;0.194;0.185;0.185;0.154	T	0.03296	-1.1051	10	0.40728	T	0.16	.	10.5107	0.44860	0.0:0.6802:0.2516:0.0682	.	217;250;157;571;245;231;245	O94988-6;E7ENS3;E9PGM7;O94988;O94988-3;O94988-5;O94988-1	.;.;.;FA13A_HUMAN;.;.;.	K	245;571;231;157;245;217	ENSP00000378450:E245K;ENSP00000264344:E571K;ENSP00000427189:E231K;ENSP00000421914:E157K;ENSP00000421562:E245K;ENSP00000423252:E217K	ENSP00000264344:E571K	E	-	1	0	FAM13A	89898943	1.000000	0.71417	0.103000	0.21229	0.558000	0.35554	3.704000	0.54815	0.344000	0.23847	-0.145000	0.13849	GAA	FAM13A	-	NULL		0.443	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	C			89679920	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	missense	SNP	0.960	T
FAM13A	10144	genome.wustl.edu	37	4	89702330	89702330	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:89702330G>A	ENST00000264344.5	-	11	1651	c.1444C>T	c.(1444-1446)Cag>Tag	p.Q482*	FAM13A_ENST00000502459.1_5'UTR|FAM13A_ENST00000511976.1_Intron|FAM13A_ENST00000503556.1_Nonsense_Mutation_p.Q142*|FAM13A_ENST00000395002.2_Nonsense_Mutation_p.Q156*|FAM13A_ENST00000508369.1_Nonsense_Mutation_p.Q156*|FAM13A_ENST00000513837.1_Nonsense_Mutation_p.Q128*	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	482					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						AGACCGTCCTGATTGTCATGA	0.338																																																	0													122.0	110.0	114.0					4																	89702330		2203	4300	6503	SO:0001587	stop_gained	10144			AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.1444C>T	4.37:g.89702330G>A	ENSP00000264344:p.Gln482*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.Q482*	ENST00000264344.5	37	c.1444	CCDS34029.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.921631	0.97105	.	.	ENSG00000138640	ENST00000395002;ENST00000264344;ENST00000503556;ENST00000508369;ENST00000513837	.	.	.	5.22	4.36	0.52297	.	0.435897	0.25666	N	0.029103	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	15.1573	0.72752	0.0:0.0:0.8577:0.1423	.	.	.	.	X	156;482;142;156;128	.	ENSP00000264344:Q482X	Q	-	1	0	FAM13A	89921353	1.000000	0.71417	0.998000	0.56505	0.756000	0.42949	4.868000	0.63021	1.410000	0.46936	0.650000	0.86243	CAG	FAM13A	-	NULL		0.338	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM13A	HGNC	protein_coding	OTTHUMT00000363371.1	G			89702330	-1	no_errors	ENST00000264344	ensembl	human	known	70_37	nonsense	SNP	1.000	A
FAM168B	130074	genome.wustl.edu	37	2	131813260	131813260	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:131813260G>C	ENST00000409185.1	-	4	270	c.163C>G	c.(163-165)Cct>Gct	p.P55A	FAM168B_ENST00000389915.3_Missense_Mutation_p.P55A	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	55						cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(3)|lung(2)	5						GGTGTGCCAGGAGTGTAACCT	0.617																																																	0													37.0	42.0	41.0					2																	131813260		2069	4203	6272	SO:0001583	missense	130074				CCDS42755.1	2q21.1	2008-08-08			ENSG00000152102	ENSG00000152102			27016	protein-coding gene	gene with protein product							Standard	NM_001009993		Approved	KIAA0280L	uc002tsd.3	A1KXE4	OTTHUMG00000153473	ENST00000409185.1:c.163C>G	2.37:g.131813260G>C	ENSP00000387051:p.Pro55Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TAZ6|Q6NZ40	Missense_Mutation	SNP	NULL	p.P55A	ENST00000409185.1	37	c.163	CCDS42755.1	2	.	.	.	.	.	.	.	.	.	.	G	5.452	0.268560	0.10349	.	.	ENSG00000152102	ENST00000409185;ENST00000354183;ENST00000389915	.	.	.	5.21	4.33	0.51752	.	0.045729	0.85682	D	0.000000	T	0.30510	0.0767	N	0.05124	-0.11	0.80722	D	1	B	0.26147	0.143	B	0.24006	0.05	T	0.10042	-1.0647	9	0.33141	T	0.24	-2.8997	11.9416	0.52905	0.0854:0.0:0.9146:0.0	.	55	A1KXE4	F168B_HUMAN	A	55	.	ENSP00000346115:P55A	P	-	1	0	FAM168B	131529730	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	5.901000	0.69861	1.324000	0.45282	0.555000	0.69702	CCT	FAM168B	-	NULL		0.617	FAM168B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM168B	HGNC	protein_coding	OTTHUMT00000331299.2	G	NM_001009993		131813260	-1	no_errors	ENST00000389915	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM175A	84142	genome.wustl.edu	37	4	84384051	84384051	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:84384051C>G	ENST00000321945.7	-	9	909	c.801G>C	c.(799-801)gaG>gaC	p.E267D	FAM175A_ENST00000506553.1_Missense_Mutation_p.E218D|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	267					chromatin modification (GO:0016568)|double-strand break repair (GO:0006302)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of DNA repair (GO:0045739)|response to ionizing radiation (GO:0010212)	BRCA1-A complex (GO:0070531)|nucleus (GO:0005634)	polyubiquitin binding (GO:0031593)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						GGATGTTCTTCTCTCCTAAAC	0.284																																																	0													29.0	31.0	30.0					4																	84384051		2129	4269	6398	SO:0001583	missense	84142			AK023676	CCDS3605.2	4q21.23	2008-10-31	2008-07-02	2008-07-02	ENSG00000163322	ENSG00000163322			25829	protein-coding gene	gene with protein product	"""Abraxas protein"""	611143	"""coiled-coil domain containing 98"""	CCDC98		12975309, 17525340	Standard	NM_139076		Approved	FLJ13614, ABRA1	uc003hou.2	Q6UWZ7	OTTHUMG00000130429	ENST00000321945.7:c.801G>C	4.37:g.84384051C>G	ENSP00000369857:p.Glu267Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A5JJ07|Q9H8I1|Q9H9N4	Missense_Mutation	SNP	prints_FAM175_BRCA1-A_cplx_Abraxas_su,prints_FAM175,prints_FAM175_BRISC_cplx_Abro1_su	p.E267D	ENST00000321945.7	37	c.801	CCDS3605.2	4	.	.	.	.	.	.	.	.	.	.	C	12.12	1.841165	0.32513	.	.	ENSG00000163322	ENST00000321945;ENST00000506553	T;T	0.46451	0.87;0.87	6.13	4.18	0.49190	.	0.462418	0.25244	N	0.032069	T	0.40522	0.1120	L	0.60455	1.87	0.80722	D	1	D	0.56521	0.976	P	0.49085	0.6	T	0.27971	-1.0058	10	0.13470	T	0.59	-19.4819	7.1844	0.25791	0.0:0.6987:0.0:0.3013	.	267	Q6UWZ7	F175A_HUMAN	D	267;218	ENSP00000369857:E267D;ENSP00000426763:E218D	ENSP00000369857:E267D	E	-	3	2	FAM175A	84603075	0.750000	0.28316	1.000000	0.80357	0.892000	0.51952	-0.071000	0.11505	1.623000	0.50342	0.644000	0.83932	GAG	FAM175A	-	NULL		0.284	FAM175A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM175A	HGNC	protein_coding	OTTHUMT00000252818.1	C	NM_139076		84384051	-1	no_errors	ENST00000321945	ensembl	human	known	70_37	missense	SNP	0.992	G
FAM186A	121006	genome.wustl.edu	37	12	50725554	50725554	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:50725554G>A	ENST00000327337.5	-	6	6746	c.6747C>T	c.(6745-6747)atC>atT	p.I2249I	FAM186A_ENST00000543111.1_Silent_p.I2249I|FAM186A_ENST00000543096.1_Silent_p.I260I	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	2249																	GCTTTTCTTCGATGATTAAGG	0.328																																					NSCLC(138;1796 1887 12511 19463 37884)												0													193.0	159.0	170.0					12																	50725554		692	1591	2283	SO:0001819	synonymous_variant	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.6747C>T	12.37:g.50725554G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.I2249	ENST00000327337.5	37	c.6747	CCDS44878.1	12																																																																																			FAM186A	-	NULL		0.328	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	G	XM_001718353		50725554	-1	no_errors	ENST00000327337	ensembl	human	known	70_37	silent	SNP	0.000	A
FAM193A	8603	genome.wustl.edu	37	4	2701497	2701497	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:2701497G>A	ENST00000324666.5	+	17	3076	c.2725G>A	c.(2725-2727)Gat>Aat	p.D909N	FAM193A_ENST00000505311.1_Missense_Mutation_p.D909N|FAM193A_ENST00000382839.3_Missense_Mutation_p.D909N|FAM193A_ENST00000502458.1_Missense_Mutation_p.D931N|FAM193A_ENST00000545951.1_Missense_Mutation_p.D909N	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	909	Glu-rich.									NS(2)|breast(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(12)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	40						ggaggaggaggatgaggaaga	0.572																																																	0													28.0	29.0	29.0					4																	2701497		2203	4300	6503	SO:0001583	missense	8603			AB000459	CCDS33943.1, CCDS58874.1, CCDS58875.1, CCDS58876.1	4p16.3	2009-09-04	2009-09-04	2009-09-04					16822	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 8"""	C4orf8		9734812	Standard	NR_046335		Approved	RES4-22	uc010ick.3	P78312		ENST00000324666.5:c.2725G>A	4.37:g.2701497G>A	ENSP00000324587:p.Asp909Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM85|B9EGR0|E9PFA1|O43607|P78311|P78313|Q9UEG8	Missense_Mutation	SNP	NULL	p.D909N	ENST00000324666.5	37	c.2725	CCDS58875.1	4	.	.	.	.	.	.	.	.	.	.	G	4.169	0.029811	0.08101	.	.	ENSG00000125386	ENST00000382839;ENST00000324666;ENST00000545951;ENST00000502458;ENST00000513350	T;T;T;T;T	0.30182	1.54;1.96;1.54;1.54;1.54	2.71	0.881	0.19166	.	.	.	.	.	T	0.16811	0.0404	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B	0.14012	0.009;0.009;0.009;0.003;0.003	B;B;B;B;B	0.18871	0.023;0.014;0.023;0.014;0.014	T	0.29181	-1.0020	9	0.25751	T	0.34	-1.5774	8.716	0.34411	0.0:0.386:0.614:0.0	.	909;931;909;931;909	B9EGR0;E9PFA1;P78312;B7ZM85;P78312-2	.;.;F193A_HUMAN;.;.	N	909;909;909;931;763	ENSP00000372290:D909N;ENSP00000324587:D909N;ENSP00000443617:D909N;ENSP00000427505:D931N;ENSP00000427260:D763N	ENSP00000324587:D909N	D	+	1	0	FAM193A	2671295	0.985000	0.35326	0.002000	0.10522	0.421000	0.31385	1.884000	0.39668	0.198000	0.20407	0.650000	0.86243	GAT	FAM193A	-	NULL		0.572	FAM193A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM193A	HGNC	protein_coding	OTTHUMT00000360903.1	G	NM_003704		2701497	+1	no_errors	ENST00000324666	ensembl	human	known	70_37	missense	SNP	0.012	A
FAM196B	100131897	genome.wustl.edu	37	5	169310240	169310240	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:169310240G>C	ENST00000377365.3	-	2	2044	c.663C>G	c.(661-663)ctC>ctG	p.L221L	DOCK2_ENST00000520908.1_Intron|DOCK2_ENST00000256935.8_Intron|FAM196B_ENST00000523970.1_5'Flank|DOCK2_ENST00000540750.1_Intron|DOCK2_ENST00000523351.1_Intron	NM_001129891.1	NP_001123363.1	A6NMK8	F196B_HUMAN	family with sequence similarity 196, member B	221										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|skin(1)	5						TGTCTGGGCTGAGAGCAGACT	0.483																																																	0													39.0	33.0	35.0					5																	169310240		692	1591	2283	SO:0001819	synonymous_variant	100131897				CCDS47336.1	5q35.1	2010-02-17	2009-09-11	2009-09-11	ENSG00000204767	ENSG00000204767			37271	protein-coding gene	gene with protein product			"""chromosome 5 open reading frame 57"""	C5orf57			Standard	NM_001129891		Approved		uc003mag.2	A6NMK8	OTTHUMG00000163083	ENST00000377365.3:c.663C>G	5.37:g.169310240G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L221	ENST00000377365.3	37	c.663	CCDS47336.1	5																																																																																			FAM196B	-	NULL		0.483	FAM196B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM196B	HGNC	protein_coding	OTTHUMT00000371629.1	G	NM_001129891		169310240	-1	no_errors	ENST00000377365	ensembl	human	known	70_37	silent	SNP	0.283	C
FAM204A	63877	genome.wustl.edu	37	10	120095732	120095732	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:120095732C>T	ENST00000369183.4	-	3	455	c.196G>A	c.(196-198)Gaa>Aaa	p.E66K	FAM204A_ENST00000369172.4_Missense_Mutation_p.E66K|FAM204A_ENST00000469758.1_5'UTR	NM_022063.2	NP_071346.1	Q9H8W3	F204A_HUMAN	family with sequence similarity 204, member A	66										kidney(1)|large_intestine(5)|lung(4)|ovary(1)	11						GGACACTCTTCATAGGCATTT	0.398																																																	0													164.0	151.0	155.0					10																	120095732		2203	4300	6503	SO:0001583	missense	63877			AK023250	CCDS7605.1	10q26.12	2011-06-01	2011-06-01	2011-06-01	ENSG00000165669	ENSG00000165669			25794	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 84"""	C10orf84		12477932	Standard	NM_022063		Approved	FLJ13188, bA319I23.1	uc010qss.1	Q9H8W3	OTTHUMG00000019131	ENST00000369183.4:c.196G>A	10.37:g.120095732C>T	ENSP00000358183:p.Glu66Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRC6|Q5T373|Q9H5V5	Missense_Mutation	SNP	NULL	p.E66K	ENST00000369183.4	37	c.196	CCDS7605.1	10	.	.	.	.	.	.	.	.	.	.	C	12.12	1.842838	0.32606	.	.	ENSG00000165669	ENST00000369183;ENST00000369172;ENST00000369170	.	.	.	5.98	4.14	0.48551	.	0.319207	0.32416	N	0.006129	T	0.58481	0.2125	M	0.76574	2.34	0.39669	D	0.970733	B	0.10296	0.003	B	0.11329	0.006	T	0.57820	-0.7745	9	0.51188	T	0.08	-11.4704	6.5508	0.22433	0.0:0.693:0.1483:0.1587	.	66	Q9H8W3	F204A_HUMAN	K	66	.	ENSP00000358168:E66K	E	-	1	0	FAM204A	120085722	0.037000	0.19845	0.998000	0.56505	0.423000	0.31445	-0.012000	0.12699	0.866000	0.35629	0.591000	0.81541	GAA	FAM204A	-	NULL		0.398	FAM204A-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM204A	HGNC	protein_coding	OTTHUMT00000050596.2	C	NM_022063		120095732	-1	no_errors	ENST00000369172	ensembl	human	known	70_37	missense	SNP	0.863	T
FAM205A	259308	genome.wustl.edu	37	9	34725732	34725732	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:34725732G>C	ENST00000378788.3	-	4	1544	c.1505C>G	c.(1504-1506)tCt>tGt	p.S502C		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	502						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						TTGATGGTCAGATGGAGACAT	0.527																																																	0													9.0	8.0	8.0					9																	34725732		692	1589	2281	SO:0001583	missense	259308				CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.1505C>G	9.37:g.34725732G>C	ENSP00000417711:p.Ser502Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVW7	Missense_Mutation	SNP	NULL	p.S502C	ENST00000378788.3	37	c.1505	CCDS55305.1	9	.	.	.	.	.	.	.	.	.	.	G	12.21	1.868934	0.32977	.	.	ENSG00000205108	ENST00000378788	T	0.06449	3.3	3.8	1.86	0.25419	.	.	.	.	.	T	0.05502	0.0145	L	0.36672	1.1	0.09310	N	1	B	0.21821	0.061	B	0.19148	0.024	T	0.38607	-0.9653	9	0.37606	T	0.19	.	6.3265	0.21246	0.0:0.2042:0.585:0.2108	.	502	Q6ZU69	F205A_HUMAN	C	502	ENSP00000417711:S502C	ENSP00000417711:S502C	S	-	2	0	RP11-195F19.10	34715732	0.000000	0.05858	0.001000	0.08648	0.322000	0.28314	0.145000	0.16157	0.345000	0.23873	0.561000	0.74099	TCT	FAM205A	-	NULL		0.527	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2	G	NM_001141917		34725732	-1	no_errors	ENST00000378788	ensembl	human	novel	70_37	missense	SNP	0.002	C
FAM208A	23272	genome.wustl.edu	37	3	56667358	56667358	+	Missense_Mutation	SNP	G	G	A	rs554752879		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:56667358G>A	ENST00000493960.2	-	18	3471	c.3461C>T	c.(3460-3462)tCg>tTg	p.S1154L	FAM208A_ENST00000431842.2_Missense_Mutation_p.S717L|FAM208A_ENST00000355628.5_Missense_Mutation_p.S1093L	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1154							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						AGTTAAAGCCGAAGTGGAATG	0.433																																																	0													163.0	154.0	157.0					3																	56667358		2203	4300	6503	SO:0001583	missense	23272			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3461C>T	3.37:g.56667358G>A	ENSP00000417509:p.Ser1154Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.S1093L	ENST00000493960.2	37	c.3278	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697474	0.68386	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.12672	2.66;2.86;2.85	5.71	4.84	0.62591	.	0.245968	0.28332	N	0.015725	T	0.21550	0.0519	L	0.58101	1.795	0.24354	N	0.994905	D;D;D;D	0.64830	0.985;0.991;0.994;0.969	P;P;P;P	0.50405	0.593;0.585;0.64;0.465	T	0.08289	-1.0729	10	0.66056	D	0.02	-5.1741	10.568	0.45184	0.0689:0.0:0.798:0.1331	.	1154;1093;717;1154	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	L	717;1154;1093	ENSP00000399410:S717L;ENSP00000417509:S1154L;ENSP00000347845:S1093L	ENSP00000347845:S1093L	S	-	2	0	C3orf63	56642398	0.980000	0.34600	0.918000	0.36340	0.903000	0.53119	3.559000	0.53756	1.552000	0.49463	0.650000	0.86243	TCG	FAM208A	-	NULL		0.433	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	G	NM_015224		56667358	-1	no_errors	ENST00000355628	ensembl	human	known	70_37	missense	SNP	0.868	A
FAM210A	125228	genome.wustl.edu	37	18	13666565	13666565	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:13666565C>T	ENST00000322247.3	-	5	1120	c.733G>A	c.(733-735)Gag>Aag	p.E245K	AP001010.1_ENST00000580433.1_RNA|FAM210A_ENST00000402563.1_Missense_Mutation_p.E245K|FAM210A_ENST00000588475.1_5'UTR	NM_001098801.1	NP_001092271.1	Q96ND0	F210A_HUMAN	family with sequence similarity 210, member A	245						integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)											TCCATTTTCTCTGTGATAAGC	0.418																																																	0													128.0	117.0	121.0					18																	13666565		2203	4300	6503	SO:0001583	missense	125228			AK055618	CCDS11866.1	18p11.21	2011-11-24	2011-11-24	2011-11-24	ENSG00000177150	ENSG00000177150			28346	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 19"""	C18orf19		14702039	Standard	NM_152352		Approved	MGC24180, HsT2329	uc010dli.3	Q96ND0	OTTHUMG00000131719	ENST00000322247.3:c.733G>A	18.37:g.13666565C>T	ENSP00000323635:p.Glu245Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUJ4	Missense_Mutation	SNP	pfam_DUF1279	p.E245K	ENST00000322247.3	37	c.733	CCDS11866.1	18	.	.	.	.	.	.	.	.	.	.	C	29.7	5.027905	0.93518	.	.	ENSG00000177150	ENST00000322247;ENST00000402563	T;T	0.73469	-0.75;-0.75	5.95	5.95	0.96441	.	0.049613	0.85682	D	0.000000	T	0.75155	0.3811	L	0.39898	1.24	0.52099	D	0.999949	D	0.54397	0.966	P	0.48738	0.588	T	0.73569	-0.3941	10	0.40728	T	0.16	-22.9616	20.3748	0.98911	0.0:1.0:0.0:0.0	.	245	Q96ND0	CR019_HUMAN	K	245	ENSP00000323635:E245K;ENSP00000386115:E245K	ENSP00000323635:E245K	E	-	1	0	C18orf19	13656565	1.000000	0.71417	0.997000	0.53966	0.787000	0.44495	7.369000	0.79578	2.817000	0.96982	0.563000	0.77884	GAG	FAM210A	-	NULL		0.418	FAM210A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM210A	HGNC	protein_coding	OTTHUMT00000254637.1	C	NM_152352		13666565	-1	no_errors	ENST00000322247	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM217B	63939	genome.wustl.edu	37	20	58520099	58520099	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:58520099G>C	ENST00000358293.3	+	5	1516	c.1101G>C	c.(1099-1101)gaG>gaC	p.E367D	FAM217B_ENST00000360816.3_Missense_Mutation_p.E367D	NM_001190826.1	NP_001177755.1	Q9NTX9	F217B_HUMAN	family with sequence similarity 217, member B	367								p.E367D(1)									TATCGAGTGAGAAAAAACTGA	0.403																																																	1	Substitution - Missense(1)	large_intestine(1)											47.0	48.0	48.0					20																	58520099		2203	4300	6503	SO:0001583	missense	63939			AL109928	CCDS13484.1	20q13.33	2012-02-07	2012-02-07	2012-02-07	ENSG00000196227	ENSG00000196227			16170	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 177"""	C20orf177			Standard	NM_022106		Approved	dJ551D2.5	uc002ybc.3	Q9NTX9	OTTHUMG00000032873	ENST00000358293.3:c.1101G>C	20.37:g.58520099G>C	ENSP00000351040:p.Glu367Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWH1|Q9NTA3	Missense_Mutation	SNP	NULL	p.E367D	ENST00000358293.3	37	c.1101	CCDS13484.1	20	.	.	.	.	.	.	.	.	.	.	G	15.71	2.912848	0.52439	.	.	ENSG00000196227	ENST00000358293;ENST00000360816	T;T	0.33654	1.4;1.4	5.35	5.35	0.76521	.	0.130623	0.34580	N	0.003851	T	0.24928	0.0605	L	0.34521	1.04	0.28809	N	0.89837	P	0.35507	0.506	B	0.31812	0.136	T	0.16808	-1.0390	10	0.33940	T	0.23	-41.9123	9.6756	0.40039	0.0:0.1934:0.6735:0.1331	.	367	Q9NTX9	CT177_HUMAN	D	367	ENSP00000351040:E367D;ENSP00000354056:E367D	ENSP00000351040:E367D	E	+	3	2	C20orf177	57953494	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	1.517000	0.35867	2.497000	0.84241	0.591000	0.81541	GAG	FAM217B	-	NULL		0.403	FAM217B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM217B	HGNC	protein_coding	OTTHUMT00000268139.1	G	NM_022106		58520099	+1	no_errors	ENST00000358293	ensembl	human	known	70_37	missense	SNP	1.000	C
FAM21C	253725	genome.wustl.edu	37	10	46282505	46282505	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:46282505C>T	ENST00000336378.4	+	27	2946	c.2828C>T	c.(2827-2829)gCg>gTg	p.A943V	FAM21C_ENST00000359860.4_Missense_Mutation_p.A887V|FAM21C_ENST00000374362.2_Missense_Mutation_p.A945V|FAM21C_ENST00000537517.1_Missense_Mutation_p.A870V|FAM21C_ENST00000540872.1_Missense_Mutation_p.A904V	NM_015262.2	NP_056077.2	Q9Y4E1	FA21C_HUMAN	family with sequence similarity 21, member C	943					retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome (GO:0005768)|plasma membrane (GO:0005886)|WASH complex (GO:0071203)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						ATCAACCCAGCGGCCTTGCTG	0.438																																																	0													5.0	5.0	5.0					10																	46282505		1267	3106	4373	SO:0001583	missense	253725				CCDS44374.1, CCDS44374.2, CCDS53528.1, CCDS53529.1	10q11.22	2014-05-09			ENSG00000172661	ENSG00000172661			23414	protein-coding gene	gene with protein product		613631				20498093	Standard	NM_015262		Approved	Em:AC012044.3, KIAA0592	uc001jcu.3	Q9Y4E1	OTTHUMG00000018089	ENST00000336378.4:c.2828C>T	10.37:g.46282505C>T	ENSP00000337541:p.Ala943Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZQ6|B9EK53|F5H0J6|F5H871|Q5SQU4|Q5SQU5|Q7L521|Q9UG79	Missense_Mutation	SNP	NULL	p.A945V	ENST00000336378.4	37	c.2834		10	.	.	.	.	.	.	.	.	.	.	.	17.93	3.510187	0.64522	.	.	ENSG00000172661	ENST00000336378;ENST00000540872;ENST00000537517;ENST00000374362;ENST00000399588;ENST00000359860;ENST00000436993	.	.	.	3.36	3.36	0.38483	.	0.154834	0.56097	D	0.000025	T	0.77824	0.4188	M	0.81682	2.555	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;0.996;1.0;1.0;1.0	D;P;D;D;D	0.85130	0.997;0.665;0.994;0.984;0.984	T	0.80221	-0.1472	9	0.52906	T	0.07	-16.7297	12.5591	0.56271	0.0:1.0:0.0:0.0	.	904;156;870;945;943	B9EK53;B3KMC4;F5H871;Q9Y4E1-4;Q9Y4E1	.;.;.;.;FA21C_HUMAN	V	943;904;870;945;966;887;878	.	ENSP00000337541:A943V	A	+	2	0	FAM21C	45602511	1.000000	0.71417	0.998000	0.56505	0.586000	0.36452	3.940000	0.56599	1.887000	0.54652	0.491000	0.48974	GCG	FAM21C	-	NULL		0.438	FAM21C-201	KNOWN	basic|appris_candidate	protein_coding	FAM21C	HGNC	protein_coding		C			46282505	+1	no_errors	ENST00000374362	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM227A	646851	genome.wustl.edu	37	22	39003465	39003465	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:39003465G>A	ENST00000535113.1	-	12	1658	c.1055C>T	c.(1054-1056)tCa>tTa	p.S352L	FAM227A_ENST00000540952.1_5'UTR|FAM227A_ENST00000406767.2_Missense_Mutation_p.S347L|FAM227A_ENST00000355830.6_Missense_Mutation_p.S347L	NM_001013647.1	NP_001013669.1	F5H4B4	F227A_HUMAN	family with sequence similarity 227, member A	352																	TTCACTGGGTGAATTTGCACT	0.388																																																	0													183.0	140.0	153.0					22																	39003465		692	1591	2283	SO:0001583	missense	646851					22q13.1	2012-07-04			ENSG00000184949	ENSG00000184949			44197	protein-coding gene	gene with protein product							Standard	NM_001013647		Approved		uc011anw.1	F5H4B4	OTTHUMG00000151133	ENST00000535113.1:c.1055C>T	22.37:g.39003465G>A	ENSP00000445093:p.Ser352Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY52|B7Z7C6|Q5TG08	Missense_Mutation	SNP	superfamily_Staphylocoagulase_N	p.S347L	ENST00000535113.1	37	c.1040		22	.	.	.	.	.	.	.	.	.	.	G	12.29	1.893403	0.33442	.	.	ENSG00000184949	ENST00000535113;ENST00000355830;ENST00000406767;ENST00000466655	.	.	.	3.51	-4.24	0.03777	.	1.919010	0.03139	N	0.166292	T	0.41949	0.1181	L	0.50333	1.59	0.09310	N	1	B;B	0.09022	0.0;0.002	B;B	0.08055	0.001;0.003	T	0.41016	-0.9532	9	0.48119	T	0.1	-16.5516	9.7639	0.40548	0.725:0.0:0.275:0.0	.	347;352	Q5TG08;F5H4B4	YV009_HUMAN;.	L	352;347;347;259	.	ENSP00000348086:S347L	S	-	2	0	RP1-199H16.5	37333411	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.021000	0.12504	-0.850000	0.04152	-0.367000	0.07326	TCA	FAM227A	-	NULL		0.388	FAM227A-202	KNOWN	basic|appris_principal	protein_coding	FAM227A	HGNC	protein_coding		G	NM_001013647		39003465	-1	no_errors	ENST00000406767	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM24A	118670	genome.wustl.edu	37	10	124672381	124672381	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:124672381C>T	ENST00000368894.1	+	3	350	c.229C>T	c.(229-231)Cca>Tca	p.P77S		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	77						extracellular region (GO:0005576)				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		GGAGTCTTGTCCATCTCTCCA	0.517																																																	0													171.0	124.0	140.0					10																	124672381		2203	4300	6503	SO:0001583	missense	118670				CCDS31304.1	10q26.13	2008-08-27			ENSG00000203795	ENSG00000203795			23470	protein-coding gene	gene with protein product							Standard	NM_001029888		Approved	AC073585.4	uc001lgv.3	A6NFZ4	OTTHUMG00000019193	ENST00000368894.1:c.229C>T	10.37:g.124672381C>T	ENSP00000357889:p.Pro77Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.P77S	ENST00000368894.1	37	c.229	CCDS31304.1	10	.	.	.	.	.	.	.	.	.	.	C	7.103	0.574491	0.13623	.	.	ENSG00000203795	ENST00000368894	.	.	.	3.57	-0.609	0.11608	.	0.617761	0.12477	N	0.465512	T	0.19886	0.0478	L	0.27053	0.805	0.09310	N	1	B	0.28713	0.22	B	0.23574	0.047	T	0.14144	-1.0483	9	0.39692	T	0.17	.	4.8273	0.13423	0.0:0.3188:0.4483:0.2329	.	77	A6NFZ4	FA24A_HUMAN	S	77	.	ENSP00000357889:P77S	P	+	1	0	FAM24A	124662371	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.129000	0.15830	-0.107000	0.12088	-0.311000	0.09066	CCA	FAM24A	-	NULL		0.517	FAM24A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM24A	HGNC	protein_coding	OTTHUMT00000050824.1	C	XM_058332		124672381	+1	no_errors	ENST00000368894	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM26F	441168	genome.wustl.edu	37	6	116783191	116783191	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:116783191C>G	ENST00000368605.1	+	2	194	c.99C>G	c.(97-99)atC>atG	p.I33M	RP1-93H18.6_ENST00000476099.1_RNA|FAM26F_ENST00000368606.3_Intron	NM_001010919.1	NP_001010919.1	Q5R3K3	FA26F_HUMAN	family with sequence similarity 26, member F	33					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				large_intestine(2)|lung(1)	3				GBM - Glioblastoma multiforme(226;0.0402)|all cancers(137;0.0627)|OV - Ovarian serous cystadenocarcinoma(136;0.0655)|Epithelial(106;0.231)		GGGAGCGCATCTTCTCCGCCG	0.682																																																	0													19.0	15.0	17.0					6																	116783191		2051	4030	6081	SO:0001583	missense	441168			AF086130	CCDS34519.1, CCDS64506.1	6q22.1	2007-06-20			ENSG00000188820	ENSG00000188820			33391	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 187"""	C6orf187			Standard	NM_001010919		Approved	RP1-93H18.5, OTTHUMP00000017061, OTTHUMP00000017062, dJ93H18.5	uc003pwv.4	Q5R3K3	OTTHUMG00000015438	ENST00000368605.1:c.99C>G	6.37:g.116783191C>G	ENSP00000357594:p.Ile33Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EJB0|Q5R3K4	Missense_Mutation	SNP	NULL	p.I33M	ENST00000368605.1	37	c.99	CCDS34519.1	6	.	.	.	.	.	.	.	.	.	.	C	17.06	3.292594	0.59976	.	.	ENSG00000188820	ENST00000368605	T	0.19250	2.16	4.77	2.98	0.34508	.	0.420887	0.23714	N	0.045295	T	0.10078	0.0247	M	0.72894	2.215	0.40681	D	0.982301	P	0.37663	0.604	B	0.33454	0.164	T	0.05321	-1.0892	10	0.30078	T	0.28	-13.5919	10.2986	0.43639	0.0:0.7909:0.1353:0.0739	.	33	Q5R3K3	FA26F_HUMAN	M	33	ENSP00000357594:I33M	ENSP00000357594:I33M	I	+	3	3	FAM26F	116889884	0.999000	0.42202	0.999000	0.59377	0.702000	0.40608	0.708000	0.25719	0.605000	0.29947	-0.327000	0.08410	ATC	FAM26F	-	NULL		0.682	FAM26F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM26F	HGNC	protein_coding	OTTHUMT00000041946.1	C	NM_001010919		116783191	+1	no_errors	ENST00000368605	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM35A	54537	genome.wustl.edu	37	10	88911721	88911721	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:88911721C>T	ENST00000298784.1	+	3	724	c.610C>T	c.(610-612)Cat>Tat	p.H204Y	FAM35A_ENST00000298786.4_Missense_Mutation_p.H204Y|RN7SL733P_ENST00000582253.1_RNA	NM_019054.2	NP_061927.2	Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	204										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						AACAGAATATCATGAAATACA	0.398																																					Ovarian(175;703 2004 25460 32514 43441)												0													25.0	27.0	26.0					10																	88911721		2140	4185	6325	SO:0001583	missense	54537			BC051863	CCDS7383.1	10q23.2	2010-06-02			ENSG00000122376	ENSG00000122376			28773	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_019054		Approved	MGC5560, bA163M19.1, FAM35A1	uc001kei.4	Q86V20	OTTHUMG00000018669	ENST00000298784.1:c.610C>T	10.37:g.88911721C>T	ENSP00000298784:p.His204Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O95885|Q9H991	Missense_Mutation	SNP	NULL	p.H204Y	ENST00000298784.1	37	c.610	CCDS7383.1	10	.	.	.	.	.	.	.	.	.	.	c	12.83	2.055417	0.36277	.	.	ENSG00000122376	ENST00000298786;ENST00000298784;ENST00000358313	T;T;T	0.22336	1.97;1.96;1.96	4.09	3.18	0.36537	.	0.859130	0.09810	N	0.752918	T	0.20333	0.0489	L	0.51422	1.61	0.09310	N	1	B	0.24368	0.102	B	0.18561	0.022	T	0.19811	-1.0294	10	0.62326	D	0.03	-3.2495	7.9658	0.30098	0.0:0.8097:0.0:0.1903	.	204	Q86V20	FA35A_HUMAN	Y	204	ENSP00000298786:H204Y;ENSP00000298784:H204Y;ENSP00000351064:H204Y	ENSP00000298784:H204Y	H	+	1	0	FAM35A	88901701	0.003000	0.15002	0.007000	0.13788	0.579000	0.36224	0.860000	0.27871	0.948000	0.37687	0.537000	0.68136	CAT	FAM35A	-	NULL		0.398	FAM35A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM35A	HGNC	protein_coding	OTTHUMT00000049196.2	C	NM_019054		88911721	+1	no_errors	ENST00000298786	ensembl	human	known	70_37	missense	SNP	0.006	T
FAM47C	442444	genome.wustl.edu	37	X	37027435	37027435	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:37027435C>T	ENST00000358047.3	+	1	1004	c.952C>T	c.(952-954)Ctc>Ttc	p.L318F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	318										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGTATCTCATCTCCGCCCAGA	0.602																																																	0													92.0	81.0	84.0					X																	37027435		2202	4300	6502	SO:0001583	missense	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.952C>T	X.37:g.37027435C>T	ENSP00000367913:p.Leu318Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZU46	Missense_Mutation	SNP	NULL	p.L318F	ENST00000358047.3	37	c.952	CCDS35227.1	X	.	.	.	.	.	.	.	.	.	.	c	9.187	1.025015	0.19433	.	.	ENSG00000198173	ENST00000358047	T	0.15718	2.4	0.915	0.915	0.19366	.	.	.	.	.	T	0.29190	0.0726	L	0.58101	1.795	0.09310	N	1	D	0.69078	0.997	D	0.67382	0.951	T	0.09618	-1.0666	9	0.52906	T	0.07	.	3.852	0.08959	0.0:0.6713:0.0:0.3286	.	318	Q5HY64	FA47C_HUMAN	F	318	ENSP00000367913:L318F	ENSP00000367913:L318F	L	+	1	0	FAM47C	36937356	0.000000	0.05858	0.011000	0.14972	0.011000	0.07611	-1.018000	0.03626	0.173000	0.19788	0.176000	0.17051	CTC	FAM47C	-	NULL		0.602	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47C	HGNC	protein_coding	OTTHUMT00000060508.1	C	NM_001013736		37027435	+1	no_errors	ENST00000358047	ensembl	human	known	70_37	missense	SNP	0.070	T
FAM46D	169966	genome.wustl.edu	37	X	79698858	79698858	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:79698858G>T	ENST00000308293.5	+	3	1059	c.820G>T	c.(820-822)Gaa>Taa	p.E274*	FAM46D_ENST00000538312.1_Nonsense_Mutation_p.E274*	NM_152630.4	NP_689843.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	274										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						TCCTCATATAGAAGAACAGCA	0.383																																																	0													65.0	58.0	60.0					X																	79698858		2203	4294	6497	SO:0001587	stop_gained	169966			BX537938	CCDS14446.1	Xq21.1	2009-08-18			ENSG00000174016	ENSG00000174016			28399	protein-coding gene	gene with protein product	"""cancer/testis antigen 112"""					12477932	Standard	NM_152630		Approved	MGC26999, CT1.26, CT112	uc004edl.1	Q8NEK8	OTTHUMG00000021902	ENST00000308293.5:c.820G>T	X.37:g.79698858G>T	ENSP00000308575:p.Glu274*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Q6|Q7Z3F6|Q8NHU1	Nonsense_Mutation	SNP	pfam_DUF1693	p.E274*	ENST00000308293.5	37	c.820	CCDS14446.1	X	.	.	.	.	.	.	.	.	.	.	G	12.97	2.098849	0.37048	.	.	ENSG00000174016	ENST00000538312;ENST00000308293	.	.	.	4.57	2.62	0.31277	.	1.187780	0.05833	N	0.617849	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	1.2133	6.8584	0.24054	0.3331:0.0:0.6669:0.0	.	.	.	.	X	274	.	ENSP00000308575:E274X	E	+	1	0	FAM46D	79585514	0.770000	0.28543	0.006000	0.13384	0.003000	0.03518	1.212000	0.32394	0.934000	0.37316	-0.230000	0.12252	GAA	FAM46D	-	pfam_DUF1693		0.383	FAM46D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM46D	HGNC	protein_coding	OTTHUMT00000057338.1	G	NM_152630		79698858	+1	no_errors	ENST00000308293	ensembl	human	known	70_37	nonsense	SNP	0.000	T
GAREM	64762	genome.wustl.edu	37	18	29847959	29847959	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:29847959C>T	ENST00000269209.6	-	6	2509	c.2506G>A	c.(2506-2508)Gaa>Aaa	p.E836K	GAREM_ENST00000399218.4_Missense_Mutation_p.E835K			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	836	SAM.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										TCAATCTTTTCAGTAACAAAG	0.418																																																	0													56.0	54.0	54.0					18																	29847959		2203	4300	6503	SO:0001583	missense	64762			AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.2506G>A	18.37:g.29847959C>T	ENSP00000269209:p.Glu836Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Missense_Mutation	SNP	superfamily_SAM/pointed	p.E836K	ENST00000269209.6	37	c.2506	CCDS56057.1	18	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017371	0.93404	.	.	ENSG00000141441	ENST00000399218;ENST00000269209	T;T	0.17691	2.26;2.26	5.66	5.66	0.87406	Sterile alpha motif/pointed domain (2);	0.000000	0.85682	D	0.000000	T	0.45135	0.1327	M	0.72118	2.19	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.85130	0.985;0.997	T	0.34551	-0.9824	10	0.87932	D	0	-16.1092	19.8068	0.96534	0.0:1.0:0.0:0.0	.	836;835	Q9H706;Q9H706-3	FA59A_HUMAN;.	K	835;836	ENSP00000382165:E835K;ENSP00000269209:E836K	ENSP00000269209:E836K	E	-	1	0	FAM59A	28101957	1.000000	0.71417	0.970000	0.41538	0.988000	0.76386	7.420000	0.80191	2.684000	0.91462	0.650000	0.86243	GAA	FAM59A	-	superfamily_SAM/pointed		0.418	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM59A	HGNC	protein_coding	OTTHUMT00000255365.1	C	NM_022751		29847959	-1	no_errors	ENST00000269209	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM69C	125704	genome.wustl.edu	37	18	72114012	72114012	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:72114012G>A	ENST00000343998.6	-	2	713	c.705C>T	c.(703-705)ctC>ctT	p.L235L	FAM69C_ENST00000400291.2_Intron	NM_001044369.2	NP_001037834.2	Q0P6D2	FA69C_HUMAN	family with sequence similarity 69, member C	235						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring phosphorus-containing groups (GO:0016772)			breast(1)|large_intestine(2)|ovary(2)	5						CCAGGGGGAAGAGTGCCCTGT	0.662																																																	0													49.0	52.0	51.0					18																	72114012		692	1591	2283	SO:0001819	synonymous_variant	125704			BC019628	CCDS42445.2	18q22.3	2012-08-03	2009-07-23	2009-07-23	ENSG00000187773	ENSG00000187773			31729	protein-coding gene	gene with protein product		614544	"""chromosome 18 open reading frame 51"""	C18orf51		21334309	Standard	NM_001044369		Approved		uc002llk.3	Q0P6D2	OTTHUMG00000156984	ENST00000343998.6:c.705C>T	18.37:g.72114012G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Uncharacterised_FAM69,superfamily_Kinase-like_dom	p.L235	ENST00000343998.6	37	c.705	CCDS42445.2	18																																																																																			FAM69C	-	superfamily_Kinase-like_dom		0.662	FAM69C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM69C	HGNC	protein_coding	OTTHUMT00000346971.2	G	XM_058931		72114012	-1	no_errors	ENST00000343998	ensembl	human	known	70_37	silent	SNP	0.999	A
FAM71D	161142	genome.wustl.edu	37	14	67691851	67691851	+	IGR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:67691851C>G	ENST00000556046.1	+	0	2136							Q8N9W8	FA71D_HUMAN	family with sequence similarity 71, member D							cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)	13		all_hematologic(31;0.0116)		all cancers(60;0.00107)|BRCA - Breast invasive adenocarcinoma(234;0.00993)|OV - Ovarian serous cystadenocarcinoma(108;0.012)		cCCCTCATATCAAATCTCCTT	0.373																																																	0													81.0	74.0	76.0					14																	67691851		2202	4298	6500	SO:0001628	intergenic_variant	161142				CCDS9778.1	14q23.3	2007-11-20	2007-11-20	2007-11-20		ENSG00000172717			20101	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 54"""	C14orf54			Standard	NM_173526		Approved		uc001xja.2	Q8N9W8			14.37:g.67691851C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VN4	Missense_Mutation	SNP	pfam_DUF3699	p.I402M	ENST00000556046.1	37	c.1206		14																																																																																			FAM71D	-	NULL		0.373	FAM71D-009	KNOWN	not_organism_supported|basic|appris_candidate	nonsense_mediated_decay	FAM71D	HGNC	protein_coding	OTTHUMT00000412390.1	C	NM_173526		67691851	+1	no_errors	ENST00000311864	ensembl	human	known	70_37	missense	SNP	0.003	G
FAM86B3P	286042	genome.wustl.edu	37	8	8092035	8092035	+	IGR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:8092035G>C								FAM85B (7899 upstream) : ALG1L13P (3160 downstream)																							GCCTTTGGATGAGCTGTACGA	0.562																																																	0																																										SO:0001628	intergenic_variant	286042																															8.37:g.8092035G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		8																																																																																			FAM86B3P	-	-	0	0.562					FAM86B3P	HGNC			G			8092035	+1	no_errors	ENST00000522601	ensembl	human	known	70_37	rna	SNP	1.000	C
FAM86C2P	645332	genome.wustl.edu	37	11	67559472	67559472	+	RNA	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:67559472G>T	ENST00000528089.1	-	0	2278							A6NEL3	F86C2_HUMAN	family with sequence similarity 86, member C2, pseudogene																		TCCAGGGCACGAAGTGTGGGA	0.592																																																	0																																												645332					11q13.2	2011-07-07			ENSG00000160172	ENSG00000160172			42392	pseudogene	pseudogene							Standard	NR_024249		Approved		uc001omt.4	A6NEL3	OTTHUMG00000167222		11.37:g.67559472G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000528089.1	37	NULL		11																																																																																			FAM86C2P	-	-		0.592	FAM86C2P-004	KNOWN	basic	processed_transcript	FAM86C2P	HGNC	pseudogene	OTTHUMT00000393796.1	G			67559472	-1	no_errors	ENST00000528089	ensembl	human	known	70_37	rna	SNP	0.000	T
FANCA	2175	genome.wustl.edu	37	16	89849303	89849303	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:89849303G>C	ENST00000389301.3	-	17	1620	c.1590C>G	c.(1588-1590)ctC>ctG	p.L530L	FANCA_ENST00000568369.1_Silent_p.L530L	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	530					DNA repair (GO:0006281)|female gonad development (GO:0008585)|male gonad development (GO:0008584)|male meiosis (GO:0007140)|protein complex assembly (GO:0006461)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AATCCTCGTAGAGTCCCATGT	0.498			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia A	16	16q24.3	2175	"""Fanconi anemia, complementation group A"""		L	0													73.0	69.0	70.0					16																	89849303		2198	4300	6498	SO:0001819	synonymous_variant	2175	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	Z83067	CCDS32515.1, CCDS42221.1, CCDS67099.1	16q24.3	2014-09-17			ENSG00000187741	ENSG00000187741		"""Fanconi anemia, complementation groups"""	3582	protein-coding gene	gene with protein product		607139		FACA, FANCH		7581462, 9382107	Standard	NM_001286167		Approved	FAA, FA-H, FAH	uc002fou.1	O15360		ENST00000389301.3:c.1590C>G	16.37:g.89849303G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A5D923|B4DRI7|H3BSR5|O75266|Q6PL10|Q92497|Q96H18|Q9UEA5|Q9UEL8|Q9UEL9|Q9UPK3|Q9Y6M2	Silent	SNP	pfam_Fanconia,prints_Fanconia	p.L530	ENST00000389301.3	37	c.1590	CCDS32515.1	16																																																																																			FANCA	-	NULL		0.498	FANCA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FANCA	HGNC	protein_coding	OTTHUMT00000421927.1	G			89849303	-1	no_errors	ENST00000389301	ensembl	human	known	70_37	silent	SNP	0.851	C
FANCL	55120	genome.wustl.edu	37	2	58390039	58390039	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:58390039C>G	ENST00000233741.4	-	11	901	c.865G>C	c.(865-867)Gaa>Caa	p.E289Q	FANCL_ENST00000402135.3_Missense_Mutation_p.E294Q|FANCL_ENST00000403295.3_Missense_Mutation_p.E261Q|FANCL_ENST00000403676.1_Missense_Mutation_p.E172Q	NM_018062.3	NP_060532.2	Q9NW38	FANCL_HUMAN	Fanconi anemia, complementation group L	289	UBC-RWD region (URD).				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|gamete generation (GO:0007276)|protein monoubiquitination (GO:0006513)|regulation of cell proliferation (GO:0042127)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	ligase activity (GO:0016874)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(4)|ovary(2)	8						AAATCAATTTCTAAAACATCT	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																																								0													53.0	57.0	56.0					2																	58390039		2202	4298	6500	SO:0001583	missense	55120	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	AK001197	CCDS1860.1, CCDS46294.1	2p16.1	2014-09-17	2003-10-14	2003-10-15	ENSG00000115392	ENSG00000115392		"""Zinc fingers, PHD-type"", ""Fanconi anemia, complementation groups"""	20748	protein-coding gene	gene with protein product		608111	"""PHD finger protein 9"""	PHF9			Standard	NM_018062		Approved	FLJ10335, FAAP43, Pog	uc002rzx.4	Q9NW38	OTTHUMG00000129349	ENST00000233741.4:c.865G>C	2.37:g.58390039C>G	ENSP00000233741:p.Glu289Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GU60	Missense_Mutation	SNP	pfam_FancL_WD-rpt_cont_dom	p.E289Q	ENST00000233741.4	37	c.865	CCDS1860.1	2	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528733	0.64860	.	.	ENSG00000115392	ENST00000403295;ENST00000233741;ENST00000402135;ENST00000403676;ENST00000449070;ENST00000446381	T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63	5.57	5.57	0.84162	Fanconi anemia complex, subunit FancL, WD-repeat containing domain (1);	0.138996	0.64402	D	0.000004	T	0.55641	0.1933	M	0.79475	2.455	0.80722	D	1	B;B;B;B	0.24368	0.034;0.102;0.002;0.001	B;B;B;B	0.31191	0.016;0.125;0.006;0.008	T	0.55811	-0.8082	10	0.51188	T	0.08	-13.7007	17.7355	0.88391	0.0:1.0:0.0:0.0	.	230;261;294;289	C9JZA9;B5MC31;Q9NW38-2;Q9NW38	.;.;.;FANCL_HUMAN	Q	261;289;294;172;230;141	ENSP00000386097:E261Q;ENSP00000233741:E289Q;ENSP00000385021:E294Q;ENSP00000384046:E172Q;ENSP00000401280:E230Q;ENSP00000390991:E141Q	ENSP00000233741:E289Q	E	-	1	0	FANCL	58243543	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.877000	0.75562	2.640000	0.89533	0.655000	0.94253	GAA	FANCL	-	pfam_FancL_WD-rpt_cont_dom		0.313	FANCL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FANCL	HGNC	protein_coding	OTTHUMT00000251497.1	C	NM_018062		58390039	-1	no_errors	ENST00000233741	ensembl	human	known	70_37	missense	SNP	1.000	G
FARP2	9855	genome.wustl.edu	37	2	242430536	242430536	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:242430536G>C	ENST00000264042.3	+	23	2735	c.2565G>C	c.(2563-2565)aaG>aaC	p.K855N		NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	855					actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		AAGCAGCCAAGAGTGGCGGTG	0.637																																																	0													79.0	80.0	80.0					2																	242430536		2203	4300	6503	SO:0001583	missense	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.2565G>C	2.37:g.242430536G>C	ENSP00000264042:p.Lys855Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.K855N	ENST00000264042.3	37	c.2565	CCDS33424.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.13|17.13	3.312083|3.312083	0.60414|0.60414	.|.	.|.	ENSG00000006607|ENSG00000006607	ENST00000444371|ENST00000264042	.|T	.|0.44482	.|0.92	4.15|4.15	3.24|3.24	0.37175|0.37175	.|Pleckstrin homology-type (1);	.|0.165408	.|0.52532	.|N	.|0.000073	T|T	0.42899|0.42899	0.1223|0.1223	M|M	0.72894|0.72894	2.215|2.215	0.80722|0.80722	D|D	1|1	.|B	.|0.31383	.|0.321	.|B	.|0.28139	.|0.086	T|T	0.50197|0.50197	-0.8856|-0.8856	5|10	.|0.62326	.|D	.|0.03	.|.	14.3959|14.3959	0.67010|0.67010	0.0:0.1493:0.8507:0.0|0.0:0.1493:0.8507:0.0	.|.	.|855	.|O94887	.|FARP2_HUMAN	Q|N	49|855	.|ENSP00000264042:K855N	.|ENSP00000264042:K855N	E|K	+|+	1|3	0|2	FARP2|FARP2	242079209|242079209	0.998000|0.998000	0.40836|0.40836	0.462000|0.462000	0.27118|0.27118	0.429000|0.429000	0.31625|0.31625	2.039000|2.039000	0.41193|0.41193	1.018000|1.018000	0.39521|0.39521	0.655000|0.655000	0.94253|0.94253	GAG|AAG	FARP2	-	NULL		0.637	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242430536	+1	no_errors	ENST00000264042	ensembl	human	known	70_37	missense	SNP	1.000	C
FASN	2194	genome.wustl.edu	37	17	80040794	80040794	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80040794C>T	ENST00000306749.2	-	33	5981	c.5763G>A	c.(5761-5763)cgG>cgA	p.R1921R	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1921	Beta-ketoacyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	ACTCACCTGTCCGGATCCCGG	0.662																																					Colon(59;314 1043 11189 28578 32273)												0													48.0	43.0	45.0					17																	80040794		2198	4296	6494	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5763G>A	17.37:g.80040794C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.R1921	ENST00000306749.2	37	c.5763	CCDS11801.1	17																																																																																			FASN	-	pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,smart_PKS/FAS_KR		0.662	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80040794	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	silent	SNP	0.853	T
FASN	2194	genome.wustl.edu	37	17	80041486	80041486	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80041486C>T	ENST00000306749.2	-	31	5466	c.5248G>A	c.(5248-5250)Gaa>Aaa	p.E1750K	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1750	Enoyl reductase. {ECO:0000250}.				acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	AGCTTCTCTTCCGCCAAGGAG	0.612																																					Colon(59;314 1043 11189 28578 32273)												0													31.0	30.0	30.0					17																	80041486		2190	4288	6478	SO:0001583	missense	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.5248G>A	17.37:g.80041486C>T	ENSP00000304592:p.Glu1750Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.E1750K	ENST00000306749.2	37	c.5248	CCDS11801.1	17	.	.	.	.	.	.	.	.	.	.	C	34	5.399419	0.96030	.	.	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.28666	1.6	4.57	4.57	0.56435	Alcohol dehydrogenase, C-terminal (1);Polyketide synthase, enoylreductase (1);NAD(P)-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.54935	0.1889	M	0.71036	2.16	0.80722	D	1	D	0.69078	0.997	D	0.68483	0.958	T	0.61451	-0.7060	10	0.72032	D	0.01	-21.8778	17.3469	0.87312	0.0:1.0:0.0:0.0	.	1750	P49327	FAS_HUMAN	K	1750;715	ENSP00000304592:E1750K	ENSP00000304592:E1750K	E	-	1	0	FASN	77634775	1.000000	0.71417	0.986000	0.45419	0.963000	0.63663	7.548000	0.82154	2.075000	0.62263	0.561000	0.74099	GAA	FASN	-	pfam_ADH_C,smart_PKS_ER		0.612	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80041486	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	missense	SNP	1.000	T
FASN	2194	genome.wustl.edu	37	17	80042558	80042558	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80042558C>G	ENST00000306749.2	-	27	4817	c.4599G>C	c.(4597-4599)gtG>gtC	p.V1533V	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1533					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	TGAGGGTGCTCACAAAGGCAT	0.701																																					Colon(59;314 1043 11189 28578 32273)												0													28.0	31.0	30.0					17																	80042558		2170	4279	6449	SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4599G>C	17.37:g.80042558C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.V1533	ENST00000306749.2	37	c.4599	CCDS11801.1	17																																																																																			FASN	-	NULL		0.701	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	C	NM_004104		80042558	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	silent	SNP	0.965	G
FASN	2194	genome.wustl.edu	37	17	80043493	80043493	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80043493G>C	ENST00000306749.2	-	23	4205	c.3987C>G	c.(3985-3987)ctC>ctG	p.L1329L	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1329					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CCATGTTGCTGAGAGCTGAGG	0.687																																					Colon(59;314 1043 11189 28578 32273)												0																																										SO:0001819	synonymous_variant	2194			U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.3987C>G	17.37:g.80043493G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Silent	SNP	pfam_Acyl_transferase,pfam_Ketoacyl_synth_N,pfam_Thioesterase,pfam_PKS_KR,pfam_DH_sc/Rdtase_SDR,pfam_Ketoacyl_synth_C,pfam_ADH_C,pfam_Acyl_carrier_prot-like,pfam_Methyltransf_12,pfam_Methyltransf_11,superfamily_Thiolase-like,superfamily_Acyl_Trfase/lysoPLipase,superfamily_GroES-like,superfamily_Acyl_carrier_prot-like,superfamily_Malonyl_transacylase_ACP-bd,smart_PKS_Beta-ketoAc_synthase_dom,smart_PKS_acyl_transferase,smart_PKS_dehydratase,smart_PKS_ER,smart_PKS/FAS_KR,smart_PKS_PP-bd,pfscan_Acyl_carrier_prot-like	p.L1329	ENST00000306749.2	37	c.3987	CCDS11801.1	17																																																																																			FASN	-	pfam_Methyltransf_12,pfam_Methyltransf_11		0.687	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASN	HGNC	protein_coding	OTTHUMT00000442369.1	G	NM_004104		80043493	-1	no_errors	ENST00000306749	ensembl	human	known	70_37	silent	SNP	0.008	C
FAT1	2195	genome.wustl.edu	37	4	187527350	187527350	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:187527350G>A	ENST00000441802.2	-	17	10433	c.10224C>T	c.(10222-10224)ctC>ctT	p.L3408L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3408	Cadherin 31. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTGAACCGTGAGCGTGTAAC	0.507										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0													106.0	106.0	106.0					4																	187527350		1999	4172	6171	SO:0001819	synonymous_variant	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.10224C>T	4.37:g.187527350G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.L3408	ENST00000441802.2	37	c.10224	CCDS47177.1	4																																																																																			FAT1	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.507	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAT1	HGNC	protein_coding	OTTHUMT00000360209.3	G	NM_005245		187527350	-1	no_errors	ENST00000441802	ensembl	human	known	70_37	silent	SNP	1.000	A
FBN3	84467	genome.wustl.edu	37	19	8182454	8182454	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:8182454C>T	ENST00000600128.1	-	27	3771	c.3357G>A	c.(3355-3357)ctG>ctA	p.L1119L	FBN3_ENST00000270509.2_Silent_p.L1119L|FBN3_ENST00000601739.1_Silent_p.L1119L			Q75N90	FBN3_HUMAN	fibrillin 3	1119	EGF-like 15; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.					proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(9)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(15)|lung(53)|ovary(7)|pancreas(2)|prostate(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	132						GGCCATCACTCAGGGAGCACT	0.612																																																	0													58.0	42.0	47.0					19																	8182454		2190	4275	6465	SO:0001819	synonymous_variant	84467				CCDS12196.1	19p13	2008-02-05							18794	protein-coding gene	gene with protein product		608529					Standard	NM_032447		Approved		uc002mjf.3	Q75N90		ENST00000600128.1:c.3357G>A	19.37:g.8182454C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q75N91|Q75N92|Q75N93|Q86SJ5|Q96JP8	Silent	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pirsf_FBN,pfscan_EG-like_dom	p.L1119	ENST00000600128.1	37	c.3357	CCDS12196.1	19																																																																																			FBN3	-	pfam_EGF-like_Ca-bd,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_FBN,pfscan_EG-like_dom		0.612	FBN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBN3	HGNC	protein_coding	OTTHUMT00000461428.2	C	NM_032447		8182454	-1	no_errors	ENST00000270509	ensembl	human	known	70_37	silent	SNP	1.000	T
FBXL4	26235	genome.wustl.edu	37	6	99365576	99365576	+	Missense_Mutation	SNP	C	C	G	rs199923936		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:99365576C>G	ENST00000369244.2	-	5	960	c.532G>C	c.(532-534)Gag>Cag	p.E178Q	FBXL4_ENST00000229971.1_Missense_Mutation_p.E178Q	NM_001278716.1	NP_001265645.1	Q9UKA2	FBXL4_HUMAN	F-box and leucine-rich repeat protein 4	178					ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrial intermembrane space (GO:0005758)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	18		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0413)		GTAGGTCTCTCTGACCAAAGA	0.398																																																	0													82.0	86.0	85.0					6																	99365576		2203	4300	6503	SO:0001583	missense	26235			AF176699	CCDS5041.1	6q16.1-q16.3	2011-06-09			ENSG00000112234	ENSG00000112234		"""F-boxes / Leucine-rich repeats"""	13601	protein-coding gene	gene with protein product		605654				10531035	Standard	NM_012160		Approved	FBL4, FBL5	uc003ppf.1	Q9UKA2	OTTHUMG00000015259	ENST00000369244.2:c.532G>C	6.37:g.99365576C>G	ENSP00000358247:p.Glu178Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7Q5|E1P530|O95919|Q5BJH0|Q9UJU0	Missense_Mutation	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom_cyclin-like	p.E178Q	ENST00000369244.2	37	c.532	CCDS5041.1	6	.	.	.	.	.	.	.	.	.	.	C	18.21	3.574498	0.65878	.	.	ENSG00000112234	ENST00000369244;ENST00000229971	T;T	0.14766	2.48;2.48	5.78	5.78	0.91487	.	0.051465	0.85682	D	0.000000	T	0.10121	0.0248	L	0.50333	1.59	0.49130	D	0.99975	B	0.31153	0.31	B	0.34138	0.176	T	0.08166	-1.0735	10	0.30078	T	0.28	.	19.6064	0.95583	0.0:1.0:0.0:0.0	.	178	Q9UKA2	FBXL4_HUMAN	Q	178	ENSP00000358247:E178Q;ENSP00000229971:E178Q	ENSP00000229971:E178Q	E	-	1	0	FBXL4	99472297	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.463000	0.80869	2.732000	0.93576	0.591000	0.81541	GAG	FBXL4	-	NULL		0.398	FBXL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL4	HGNC	protein_coding	OTTHUMT00000041587.2	C			99365576	-1	no_errors	ENST00000229971	ensembl	human	known	70_37	missense	SNP	1.000	G
FBXO15	201456	genome.wustl.edu	37	18	71790643	71790643	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:71790643G>A	ENST00000419743.2	-	8	1177	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	FBXO15_ENST00000269500.5_Silent_p.F290F	NM_001142958.1	NP_001136430.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	366						SCF ubiquitin ligase complex (GO:0019005)				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CACATAGGTAGAAAACCCCAC	0.443																																																	0													79.0	77.0	77.0					18																	71790643		2203	4300	6503	SO:0001819	synonymous_variant	201456			AK094215	CCDS45884.1	18q22.3	2006-03-09	2004-06-15		ENSG00000141665	ENSG00000141665		"""F-boxes /  ""other"""""	13617	protein-coding gene	gene with protein product		609093	"""F-box only protein 15"""			12665572	Standard	NM_152676		Approved	MGC39671, FBX15	uc002llf.2	Q8NCQ5	OTTHUMG00000132842	ENST00000419743.2:c.1098C>T	18.37:g.71790643G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KST3	Silent	SNP	pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.F366	ENST00000419743.2	37	c.1098	CCDS45884.1	18																																																																																			FBXO15	-	NULL		0.443	FBXO15-002	KNOWN	basic|CCDS	protein_coding	FBXO15	HGNC	protein_coding	OTTHUMT00000444223.1	G	NM_152676		71790643	-1	no_errors	ENST00000419743	ensembl	human	known	70_37	silent	SNP	0.908	A
FBXO38	81545	genome.wustl.edu	37	5	147781924	147781924	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:147781924C>T	ENST00000340253.5	+	5	608	c.440C>T	c.(439-441)tCt>tTt	p.S147F	FBXO38_ENST00000296701.6_Missense_Mutation_p.S147F|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.S147F|FBXO38_ENST00000394370.3_Missense_Mutation_p.S147F			Q6PIJ6	FBX38_HUMAN	F-box protein 38	147					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAACTTCTCATTTGGAG	0.368																																																	0													164.0	162.0	163.0					5																	147781924		2203	4300	6503	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.440C>T	5.37:g.147781924C>T	ENSP00000342023:p.Ser147Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.S147F	ENST00000340253.5	37	c.440		5	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807269	0.90623	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.38722	1.12;5.21;1.12;5.21	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.56761	0.2007	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.997	D;D;D	0.87578	0.998;0.996;0.994	T	0.57277	-0.7839	10	0.87932	D	0	-16.7373	18.8946	0.92419	0.0:1.0:0.0:0.0	.	147;147;147	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	F	147	ENSP00000342023:S147F;ENSP00000296701:S147F;ENSP00000377895:S147F;ENSP00000426410:S147F	ENSP00000296701:S147F	S	+	2	0	FBXO38	147762117	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.777000	0.68931	2.871000	0.98454	0.655000	0.94253	TCT	FBXO38	-	NULL		0.368	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	C	NM_030793		147781924	+1	no_errors	ENST00000340253	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO38	81545	genome.wustl.edu	37	5	147782040	147782040	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:147782040C>T	ENST00000340253.5	+	5	724	c.556C>T	c.(556-558)Cct>Tct	p.P186S	FBXO38_ENST00000296701.6_Missense_Mutation_p.P186S|FBXO38_ENST00000509699.2_3'UTR|FBXO38_ENST00000513826.1_Missense_Mutation_p.P186S|FBXO38_ENST00000394370.3_Missense_Mutation_p.P186S			Q6PIJ6	FBX38_HUMAN	F-box protein 38	186					cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGAAAATTCCTATAGGAGC	0.343																																																	0													84.0	87.0	86.0					5																	147782040		2203	4300	6503	SO:0001583	missense	81545			BC005873	CCDS43384.1, CCDS64285.1	5q33.1	2008-02-05			ENSG00000145868	ENSG00000145868		"""F-boxes /  ""other"""""	28844	protein-coding gene	gene with protein product		608533				12477932	Standard	NM_030793		Approved	MOKA, SP329, FLJ13962, Fbx38	uc003lpg.2	Q6PIJ6	OTTHUMG00000129929	ENST00000340253.5:c.556C>T	5.37:g.147782040C>T	ENSP00000342023:p.Pro186Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PK72|Q7Z2U0|Q86VN3|Q9BXY6|Q9H837|Q9HC40	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.P186S	ENST00000340253.5	37	c.556		5	.	.	.	.	.	.	.	.	.	.	C	32	5.122320	0.94429	.	.	ENSG00000145868	ENST00000340253;ENST00000296701;ENST00000394370;ENST00000513826	T;T;T;T	0.37915	1.18;5.62;1.17;5.62	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.51805	0.1696	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.973;0.983;0.998	T	0.46345	-0.9198	10	0.52906	T	0.07	-12.0229	18.8946	0.92419	0.0:1.0:0.0:0.0	.	186;186;186	Q6PIJ6-3;Q6PIJ6-2;Q6PIJ6	.;.;FBX38_HUMAN	S	186	ENSP00000342023:P186S;ENSP00000296701:P186S;ENSP00000377895:P186S;ENSP00000426410:P186S	ENSP00000296701:P186S	P	+	1	0	FBXO38	147762233	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.484000	0.81180	2.871000	0.98454	0.655000	0.94253	CCT	FBXO38	-	NULL		0.343	FBXO38-002	KNOWN	basic|appris_principal	protein_coding	FBXO38	HGNC	protein_coding	OTTHUMT00000252185.2	C	NM_030793		147782040	+1	no_errors	ENST00000340253	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO42	54455	genome.wustl.edu	37	1	16577630	16577630	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:16577630G>C	ENST00000375592.3	-	10	1905	c.1689C>G	c.(1687-1689)atC>atG	p.I563M		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	563								p.I563M(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		ACATCGCTTTGATGGCTTCCA	0.612																																																	1	Substitution - Missense(1)	lung(1)											47.0	43.0	44.0					1																	16577630		2203	4300	6503	SO:0001583	missense	54455			BC063864	CCDS30613.1	1p36.23-p36.11	2008-02-05			ENSG00000037637	ENSG00000037637		"""F-boxes /  ""other"""""	29249	protein-coding gene	gene with protein product		609109				10718198	Standard	XM_006710698		Approved	KIAA1332, Fbx42	uc001ayg.3	Q6P3S6	OTTHUMG00000002218	ENST00000375592.3:c.1689C>G	1.37:g.16577630G>C	ENSP00000364742:p.Ile563Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP30|Q5TEU8|Q86XI0|Q8N3N4|Q8N5F8|Q9BRM0|Q9P2L4	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,pfam_F-box_dom_cyclin-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,pfscan_F-box_dom_cyclin-like	p.I563M	ENST00000375592.3	37	c.1689	CCDS30613.1	1	.	.	.	.	.	.	.	.	.	.	G	13.22	2.172492	0.38315	.	.	ENSG00000037637	ENST00000375592;ENST00000456164;ENST00000444116	T;T;T	0.52983	3.76;0.64;0.64	5.52	4.6	0.57074	.	0.237591	0.42548	D	0.000698	T	0.28366	0.0701	N	0.08118	0	0.44469	D	0.997401	B	0.22909	0.077	B	0.23018	0.043	T	0.06789	-1.0807	10	0.27785	T	0.31	-10.7194	13.6178	0.62120	0.0746:0.0:0.9254:0.0	.	563	Q6P3S6	FBX42_HUMAN	M	563;281;281	ENSP00000364742:I563M;ENSP00000415663:I281M;ENSP00000412416:I281M	ENSP00000364742:I563M	I	-	3	3	FBXO42	16450217	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	3.836000	0.55813	1.467000	0.48044	0.655000	0.94253	ATC	FBXO42	-	NULL		0.612	FBXO42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXO42	HGNC	protein_coding	OTTHUMT00000006285.1	G			16577630	-1	no_errors	ENST00000375592	ensembl	human	known	70_37	missense	SNP	1.000	C
FBXW2	26190	genome.wustl.edu	37	9	123555327	123555327	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:123555327C>T	ENST00000608872.1	-	2	168				RP11-27I1.4_ENST00000437707.1_RNA|FBXW2_ENST00000340778.5_Intron	NM_012164.3	NP_036296.2	Q9UKT8	FBXW2_HUMAN	F-box and WD repeat domain containing 2						cellular protein modification process (GO:0006464)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)	ubiquitin-protein transferase activity (GO:0004842)			ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	4						GGCAGTAACTCCAAAACCCTG	0.507																																																	0																																										SO:0001627	intron_variant	26190			AF129531	CCDS43872.1	9q34	2013-01-09	2007-02-08		ENSG00000119402	ENSG00000119402		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13608	protein-coding gene	gene with protein product		609071	"""F-box and WD-40 domain protein 2"""			10531035, 10828603	Standard	NM_012164		Approved	FBW2, Md6, Fwd2	uc004bkm.1	Q9UKT8	OTTHUMG00000020576	ENST00000608872.1:c.19+99G>A	9.37:g.123555327C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRL8|Q4VXH2|Q7Z4V6|Q8WV51|Q9HA09|Q9UKA3	RNA	SNP	-	NULL	ENST00000608872.1	37	NULL	CCDS43872.1	9																																																																																			FBXW2	-	-		0.507	FBXW2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW2	HGNC	protein_coding	OTTHUMT00000053834.2	C			123555327	-1	no_errors	ENST00000476481	ensembl	human	known	70_37	rna	SNP	0.027	T
FBXW5	54461	genome.wustl.edu	37	9	139838386	139838386	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:139838386G>A	ENST00000325285.3	-	2	229	c.150C>T	c.(148-150)ttC>ttT	p.F50F	FBXW5_ENST00000483559.1_5'UTR|C8G_ENST00000224181.3_5'Flank	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	50					centrosome duplication (GO:0051298)|mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)	Cul4-RING E3 ubiquitin ligase complex (GO:0080008)|cytoplasm (GO:0005737)|SCF ubiquitin ligase complex (GO:0019005)	protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		AGTAGCGGTAGAACTGCTCCC	0.721																																																	0													15.0	16.0	16.0					9																	139838386		2074	4127	6201	SO:0001819	synonymous_variant	54461			BC014130	CCDS7014.1	9q34.3	2013-01-09	2007-02-08		ENSG00000159069	ENSG00000159069		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13613	protein-coding gene	gene with protein product		609072	"""F-box and WD-40 domain protein 5"""				Standard	NM_018998		Approved	DKFZP434B205, MGC20962, Fbw5	uc004cjx.3	Q969U6	OTTHUMG00000020967	ENST00000325285.3:c.150C>T	9.37:g.139838386G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDZ6|Q59ET5|Q5SPZ8|Q5SPZ9|Q5SQ00|Q5SQ02|Q5SQ03|Q5SQ04|Q8WY79|Q96GJ6|Q9BSU8|Q9H6A8|Q9HBQ6|Q9NSZ3	Silent	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinoprot_gluc/sorb_DH,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F50	ENST00000325285.3	37	c.150	CCDS7014.1	9																																																																																			FBXW5	-	superfamily_F-box_dom_cyclin-like		0.721	FBXW5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW5	HGNC	protein_coding	OTTHUMT00000055227.1	G	NM_018998		139838386	-1	no_errors	ENST00000325285	ensembl	human	known	70_37	silent	SNP	1.000	A
FBXW7	55294	genome.wustl.edu	37	4	153247289	153247289	+	Missense_Mutation	SNP	G	G	C	rs149680468		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:153247289G>C	ENST00000281708.4	-	10	2742	c.1513C>G	c.(1513-1515)Cgc>Ggc	p.R505G	FBXW7_ENST00000393956.3_Missense_Mutation_p.R329G|FBXW7_ENST00000603548.1_Missense_Mutation_p.R505G|FBXW7_ENST00000263981.5_Missense_Mutation_p.R425G|FBXW7_ENST00000296555.5_Missense_Mutation_p.R387G|FBXW7_ENST00000603841.1_Missense_Mutation_p.R505G	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	505			R -> L (in an ovarian cancer cell line). {ECO:0000269|PubMed:11565033, ECO:0000269|PubMed:16959974}.		cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R505C(60)|p.R505G(18)|p.R425C(14)|p.R266C(13)|p.R425G(9)|p.R266G(9)|p.R387G(6)|p.R387C(3)|p.R505S(3)|p.R387S(1)|p.?(1)|p.R425S(1)|p.R266S(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TGAACACAGCGGACTGCTGCA	0.468			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	139	Substitution - Missense(138)|Unknown(1)	haematopoietic_and_lymphoid_tissue(44)|large_intestine(26)|endometrium(20)|urinary_tract(15)|lung(15)|upper_aerodigestive_tract(8)|skin(8)|ovary(2)|biliary_tract(1)											167.0	156.0	160.0					4																	153247289		2203	4300	6503	SO:0001583	missense	55294			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1513C>G	4.37:g.153247289G>C	ENSP00000281708:p.Arg505Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_WD40_repeat_dom,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R505G	ENST00000281708.4	37	c.1513	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	17.95	3.513685	0.64522	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62105	0.05;0.05;0.05;0.05	5.72	4.88	0.63580	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.101576	0.64402	D	0.000001	T	0.78679	0.4321	M	0.75085	2.285	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.81858	-0.0739	10	0.87932	D	0	-12.0024	15.0746	0.72066	0.0681:0.0:0.9319:0.0	.	329;505;387;425	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	G	505;387;425;329	ENSP00000281708:R505G;ENSP00000296555:R387G;ENSP00000263981:R425G;ENSP00000377528:R329G	ENSP00000263981:R425G	R	-	1	0	FBXW7	153466739	1.000000	0.71417	1.000000	0.80357	0.556000	0.35491	9.772000	0.98984	1.559000	0.49555	-0.145000	0.13849	CGC	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1	G			153247289	-1	no_errors	ENST00000281708	ensembl	human	known	70_37	missense	SNP	1.000	C
FDFT1	2222	genome.wustl.edu	37	8	11695907	11695907	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:11695907G>C	ENST00000220584.4	+	8	1265	c.1043G>C	c.(1042-1044)aGa>aCa	p.R348T	FDFT1_ENST00000530664.1_Missense_Mutation_p.R284T|FDFT1_ENST00000525900.1_Missense_Mutation_p.R341T|FDFT1_ENST00000525777.1_Missense_Mutation_p.R263T|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000528643.1_Missense_Mutation_p.R263T|FDFT1_ENST00000443614.2_Missense_Mutation_p.R305T|FDFT1_ENST00000538689.1_Missense_Mutation_p.R237T|FDFT1_ENST00000528812.1_Missense_Mutation_p.R284T	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	348					cellular lipid metabolic process (GO:0044255)|cholesterol biosynthetic process (GO:0006695)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|steroid biosynthetic process (GO:0006694)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	farnesyl-diphosphate farnesyltransferase activity (GO:0004310)|oxidoreductase activity (GO:0016491)|squalene synthase activity (GO:0051996)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		ATTTATCATAGAATCCCCGAC	0.438																																																	0													91.0	84.0	86.0					8																	11695907		2203	4300	6503	SO:0001583	missense	2222			X69141	CCDS5985.1, CCDS75696.1, CCDS75697.1	8p23.1-p22	2005-03-07			ENSG00000079459	ENSG00000079459	2.5.1.21		3629	protein-coding gene	gene with protein product	"""squalene synthase"""	184420					Standard	NM_001287742		Approved		uc003wui.3	P37268	OTTHUMG00000090801	ENST00000220584.4:c.1043G>C	8.37:g.11695907G>C	ENSP00000220584:p.Arg348Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ95|B4DJE5|B4DT56|B7Z1J3|Q96GT0	Missense_Mutation	SNP	pfam_Squ/phyt_synthse,superfamily_Terpenoid_synth,tigrfam_Squal_synth	p.R348T	ENST00000220584.4	37	c.1043	CCDS5985.1	8	.	.	.	.	.	.	.	.	.	.	G	6.895	0.534577	0.13188	.	.	ENSG00000079459	ENST00000538689;ENST00000220584;ENST00000443614;ENST00000525900;ENST00000528812;ENST00000530664;ENST00000528643;ENST00000525777	T;T;T;T;T;T;T;T	0.72051	-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62;-0.62	5.16	3.36	0.38483	Terpenoid synthase (2);	0.159458	0.56097	D	0.000030	T	0.49029	0.1533	N	0.19112	0.55	0.09310	N	0.999993	B;B;B;B;B	0.30361	0.121;0.014;0.277;0.044;0.044	B;B;B;B;B	0.17433	0.013;0.009;0.018;0.011;0.011	T	0.45498	-0.9257	10	0.66056	D	0.02	-15.0429	6.3196	0.21211	0.3673:0.0:0.6327:0.0	.	181;305;405;341;348	B4DWP0;B4DJE5;B4DND3;E9PNM1;P37268	.;.;.;.;FDFT_HUMAN	T	237;348;305;341;284;284;263;263	ENSP00000444248:R237T;ENSP00000220584:R348T;ENSP00000390367:R305T;ENSP00000434714:R341T;ENSP00000431749:R284T;ENSP00000432331:R284T;ENSP00000431649:R263T;ENSP00000436069:R263T	ENSP00000220584:R348T	R	+	2	0	FDFT1	11733316	1.000000	0.71417	0.009000	0.14445	0.019000	0.09904	5.033000	0.64146	0.873000	0.35799	0.591000	0.81541	AGA	FDFT1	-	superfamily_Terpenoid_synth,tigrfam_Squal_synth		0.438	FDFT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FDFT1	HGNC	protein_coding	OTTHUMT00000207588.2	G			11695907	+1	no_errors	ENST00000220584	ensembl	human	known	70_37	missense	SNP	0.168	C
FEM1B	10116	genome.wustl.edu	37	15	68582020	68582020	+	Silent	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:68582020C>A	ENST00000306917.4	+	2	939	c.324C>A	c.(322-324)gtC>gtA	p.V108V		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	108					apoptotic process (GO:0006915)|branching involved in prostate gland morphogenesis (GO:0060442)|epithelial cell maturation involved in prostate gland development (GO:0060743)|regulation of DNA damage checkpoint (GO:2000001)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of ubiquitin-protein transferase activity (GO:0051438)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death receptor binding (GO:0005123)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						AACTTCTAGTCAGCCATGGAG	0.458																																																	0													87.0	74.0	78.0					15																	68582020		2200	4298	6498	SO:0001819	synonymous_variant	10116				CCDS10228.1	15q22	2013-02-19	2001-11-28		ENSG00000169018	ENSG00000169018		"""Ankyrin repeat domain containing"""	3649	protein-coding gene	gene with protein product		613539	"""FEM-1 (C. elegans) homolog b"""			10623617	Standard	NM_015322		Approved		uc002arg.3	Q9UK73	OTTHUMG00000133285	ENST00000306917.4:c.324C>A	15.37:g.68582020C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43146	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.V108	ENST00000306917.4	37	c.324	CCDS10228.1	15																																																																																			FEM1B	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.458	FEM1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEM1B	HGNC	protein_coding	OTTHUMT00000257065.1	C			68582020	+1	no_errors	ENST00000306917	ensembl	human	known	70_37	silent	SNP	1.000	A
FER1L6	654463	genome.wustl.edu	37	8	125035755	125035755	+	Silent	SNP	C	C	T	rs567278064		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:125035755C>T	ENST00000522917.1	+	18	2411	c.2205C>T	c.(2203-2205)atC>atT	p.I735I	FER1L6-AS1_ENST00000518567.1_RNA|FER1L6_ENST00000399018.1_Silent_p.I735I	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6	735						integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGCCCGCATCGCCTCCAAAG	0.517																																																	0													97.0	100.0	99.0					8																	125035755		1970	4159	6129	SO:0001819	synonymous_variant	654463			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2205C>T	8.37:g.125035755C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_C2_Ca-dep,pfam_Ferlin_B-domain,pfam_FerIin-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ABC_transptrTM_dom_typ1,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.I735	ENST00000522917.1	37	c.2205	CCDS43767.1	8																																																																																			FER1L6	-	pfam_Ferlin_B-domain		0.517	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6	HGNC	protein_coding	OTTHUMT00000381400.1	C	NM_001039112		125035755	+1	no_errors	ENST00000399018	ensembl	human	known	70_37	silent	SNP	0.009	T
FER1L6	654463	genome.wustl.edu	37	8	125072540	125072540	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:125072540C>T	ENST00000522917.1	+	23	3191				FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Intron|FER1L6-AS2_ENST00000601180.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like family member 6							integral component of membrane (GO:0016021)				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AGGTACGGGTCAGCGGAGGAG	0.567																																																	0													68.0	72.0	71.0					8																	125072540		2203	4300	6503	SO:0001627	intron_variant	157376			AB196633	CCDS43767.1	8q24.13	2014-06-27	2014-06-27		ENSG00000214814	ENSG00000214814			28065	protein-coding gene	gene with protein product			"""fer-1-like 6 (C. elegans)"""				Standard	NM_001039112		Approved	C8ORFK23	uc003yqw.3	Q2WGJ9	OTTHUMG00000164998	ENST00000522917.1:c.2985+9C>T	8.37:g.125072540C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000522917.1	37	NULL	CCDS43767.1	8																																																																																			FER1L6-AS2	-	-		0.567	FER1L6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FER1L6-AS2	HGNC	protein_coding	OTTHUMT00000381400.1	C	NM_001039112		125072540	-1	no_errors	ENST00000520031	ensembl	human	known	70_37	rna	SNP	0.000	T
FEZ2	9637	genome.wustl.edu	37	2	36805804	36805806	+	In_Frame_Del	DEL	TTC	TTC	-			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	TTC	TTC					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:36805804_36805806delTTC	ENST00000405912.3	-	5	836_838	c.837_839delGAA	c.(835-840)aagaaa>aaa	p.279_280KK>K	FEZ2_ENST00000305852.7_In_Frame_Del_p.108_109KK>K|FEZ2_ENST00000379245.4_In_Frame_Del_p.279_280KK>K	NM_005102.2	NP_005093.2	Q9UHY8	FEZ2_HUMAN	fasciculation and elongation protein zeta 2 (zygin II)	279	Poly-Lys.				axon guidance (GO:0007411)|nervous system development (GO:0007399)|signal transduction (GO:0007165)					breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				TAGTTTCTTTTTCTTTTTTGCTG	0.389																																																	0																																										SO:0001651	inframe_deletion	9637			U60061	CCDS46257.1, CCDS46258.1	2p21	2008-05-15			ENSG00000171055	ENSG00000171055			3660	protein-coding gene	gene with protein product		604826				9096408	Standard	NM_005102		Approved		uc002rpg.2	Q9UHY8	OTTHUMG00000152148	ENST00000405912.3:c.837_839delGAA	2.37:g.36805804_36805806delTTC	ENSP00000385112:p.Lys282del	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5EBN3|Q76LN0|Q99690	In_Frame_Del	DEL	pfam_FEZ	p.K282in_frame_del	ENST00000405912.3	37	c.839_837	CCDS46257.1	2																																																																																			FEZ2	-	pfam_FEZ		0.389	FEZ2-002	KNOWN	basic|CCDS	protein_coding	FEZ2	HGNC	protein_coding	OTTHUMT00000325432.1	TTC			36805806	-1	no_errors	ENST00000405912	ensembl	human	known	70_37	in_frame_del	DEL	1.000:1.000:1.000	-
FGA	2243	genome.wustl.edu	37	4	155505690	155505690	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:155505690C>G	ENST00000302053.3	-	6	2265	c.2187G>C	c.(2185-2187)gaG>gaC	p.E729D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	729	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CAGCCCAGTCCTCTAATTCAA	0.527																																					NSCLC(143;340 1922 20892 22370 48145)												0													138.0	135.0	136.0					4																	155505690		2203	4300	6503	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.2187G>C	4.37:g.155505690C>G	ENSP00000306361:p.Glu729Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,pfam_Fibrinogen_a/b/g_coil_dom,pfam_Fibrinogen_aC,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.E729D	ENST00000302053.3	37	c.2187	CCDS3787.1	4	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923352	0.73213	.	.	ENSG00000171560	ENST00000302053	T	0.78924	-1.22	5.61	2.8	0.32819	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.090158	0.85682	D	0.000000	D	0.87422	0.6173	M	0.91459	3.21	0.80722	D	1	P	0.51791	0.948	P	0.60236	0.871	D	0.86594	0.1862	10	0.72032	D	0.01	.	9.4378	0.38650	0.0:0.7554:0.0:0.2446	.	729	P02671	FIBA_HUMAN	D	729	ENSP00000306361:E729D	ENSP00000306361:E729D	E	-	3	2	FGA	155725140	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	2.726000	0.47302	0.255000	0.21593	0.650000	0.86243	GAG	FGA	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.527	FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FGA	HGNC	protein_coding	OTTHUMT00000317593.1	C	NM_000508		155505690	-1	no_errors	ENST00000302053	ensembl	human	known	70_37	missense	SNP	1.000	G
FGD1	2245	genome.wustl.edu	37	X	54497876	54497876	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:54497876C>T	ENST00000375135.3	-	2	1085	c.352G>A	c.(352-354)Gac>Aac	p.D118N		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	118	Pro-rich.				actin cytoskeleton organization (GO:0030036)|apoptotic signaling pathway (GO:0097190)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|multicellular organismal development (GO:0007275)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGCCAGGGTCAAGGGACAAA	0.567																																																	0													53.0	53.0	53.0					X																	54497876		2203	4300	6503	SO:0001583	missense	2245			U11690	CCDS14359.1	Xp11.21	2013-01-10	2008-08-01		ENSG00000102302	ENSG00000102302		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	3663	protein-coding gene	gene with protein product		300546	"""faciogenital dysplasia (Aarskog-Scott syndrome)"""	FGDY			Standard	NM_004463		Approved	ZFYVE3	uc004dtg.3	P98174	OTTHUMG00000021627	ENST00000375135.3:c.352G>A	X.37:g.54497876C>T	ENSP00000364277:p.Asp118Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H999|Q8N4D9	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,superfamily_Znf_FYVE_PHD,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.D118N	ENST00000375135.3	37	c.352	CCDS14359.1	X	.	.	.	.	.	.	.	.	.	.	C	19.75	3.886212	0.72410	.	.	ENSG00000102302	ENST00000375135	T	0.69175	-0.38	4.88	4.88	0.63580	.	0.129946	0.35349	N	0.003279	T	0.49064	0.1535	N	0.14661	0.345	0.39616	D	0.969966	P	0.37781	0.608	B	0.32289	0.143	T	0.59204	-0.7498	10	0.54805	T	0.06	-15.865	16.1819	0.81915	0.0:1.0:0.0:0.0	.	118	P98174	FGD1_HUMAN	N	118	ENSP00000364277:D118N	ENSP00000364277:D118N	D	-	1	0	FGD1	54514601	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.823000	0.62694	2.159000	0.67721	0.436000	0.28706	GAC	FGD1	-	NULL		0.567	FGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD1	HGNC	protein_coding	OTTHUMT00000056801.1	C	NM_004463		54497876	-1	no_errors	ENST00000375135	ensembl	human	known	70_37	missense	SNP	1.000	T
FGD6	55785	genome.wustl.edu	37	12	95604511	95604511	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:95604511G>C	ENST00000343958.4	-	2	772	c.549C>G	c.(547-549)ctC>ctG	p.L183L	FGD6_ENST00000550368.1_5'Flank|FGD6_ENST00000546711.1_Silent_p.L183L|FGD6_ENST00000549499.1_Silent_p.L183L	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	183					actin cytoskeleton organization (GO:0030036)|cytoskeleton organization (GO:0007010)|filopodium assembly (GO:0046847)|positive regulation of GTPase activity (GO:0043547)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|ruffle (GO:0001726)	guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|small GTPase binding (GO:0031267)			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AGGCATCTTTGAGCTCCTCTT	0.418																																																	0													84.0	78.0	80.0					12																	95604511		2203	4300	6503	SO:0001819	synonymous_variant	55785			AB037783	CCDS31878.1	12q23.1	2013-01-10				ENSG00000180263		"""Zinc fingers, FYVE domain containing"", ""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	21740	protein-coding gene	gene with protein product		613520					Standard	NM_018351		Approved	ZFYVE24, FLJ11183	uc001tdp.4	Q6ZV73	OTTHUMG00000170133	ENST00000343958.4:c.549C>G	12.37:g.95604511G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZR53|Q7Z2Z7|Q96D44|Q9NUR8|Q9P2I5	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Znf_FYVE,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Znf_FYVE,pfscan_Pleckstrin_homology,pfscan_Znf_FYVE-rel,pfscan_DH-domain	p.L183	ENST00000343958.4	37	c.549	CCDS31878.1	12																																																																																			FGD6	-	NULL		0.418	FGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGD6	HGNC	protein_coding	OTTHUMT00000407600.1	G	NM_018351		95604511	-1	no_errors	ENST00000343958	ensembl	human	known	70_37	silent	SNP	0.909	C
FGF4	2249	genome.wustl.edu	37	11	69588887	69588887	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:69588887C>T	ENST00000168712.1	-	2	667	c.349G>A	c.(349-351)Gag>Aag	p.E117K	FGF4_ENST00000538040.1_Intron|AP001888.1_ENST00000602104.1_5'Flank	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	117					apoptotic process involved in morphogenesis (GO:0060561)|cartilage condensation (GO:0001502)|cell-cell signaling (GO:0007267)|chondroblast differentiation (GO:0060591)|cranial suture morphogenesis (GO:0060363)|embryonic hindlimb morphogenesis (GO:0035116)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mesenchymal cell proliferation (GO:0010463)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|stem cell maintenance (GO:0019827)	cytosol (GO:0005829)|extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GGCGAGAGCTCCAGCAGGCCT	0.692																																																	0													21.0	24.0	23.0					11																	69588887		2194	4293	6487	SO:0001583	missense	2249			M17446	CCDS8194.1	11q13.3	2014-01-30	2008-08-01		ENSG00000075388	ENSG00000075388		"""Endogenous ligands"""	3682	protein-coding gene	gene with protein product	"""human stomach cancer, transforming factor from FGF-related oncogene"", ""kaposi sarcoma oncogene"", ""transforming protein KS3"""	164980	"""heparin secretory transforming protein 1"""	HSTF1		1611909	Standard	NM_002007		Approved	K-FGF, HBGF-4, HST, HST-1, KFGF	uc001opg.1	P08620	OTTHUMG00000167887	ENST00000168712.1:c.349G>A	11.37:g.69588887C>T	ENSP00000168712:p.Glu117Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7U994	Missense_Mutation	SNP	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd,prints_IL1_HBGF	p.E117K	ENST00000168712.1	37	c.349	CCDS8194.1	11	.	.	.	.	.	.	.	.	.	.	C	35	5.461098	0.96240	.	.	ENSG00000075388	ENST00000168712	D	0.82711	-1.64	5.36	5.36	0.76844	.	0.000000	0.50627	D	0.000119	D	0.90978	0.7163	M	0.88377	2.95	0.80722	D	1	P	0.50943	0.94	P	0.56434	0.798	D	0.91998	0.5608	9	.	.	.	.	17.3071	0.87198	0.0:1.0:0.0:0.0	.	117	P08620	FGF4_HUMAN	K	117	ENSP00000168712:E117K	.	E	-	1	0	FGF4	69298068	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.444000	0.60001	2.523000	0.85059	0.655000	0.94253	GAG	FGF4	-	pfam_IL1_HBGF,superfamily_Cytokine_IL1-like,smart_IL1_HBGF,prints_GF_heparin-bd		0.692	FGF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF4	HGNC	protein_coding	OTTHUMT00000396834.2	C	NM_002007		69588887	-1	no_errors	ENST00000168712	ensembl	human	known	70_37	missense	SNP	1.000	T
FHAD1	114827	genome.wustl.edu	37	1	15701058	15701058	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:15701058C>T	ENST00000375998.4	+	25	3442	c.3442C>T	c.(3442-3444)Cag>Tag	p.Q1148*	FHAD1_ENST00000314740.8_Nonsense_Mutation_p.Q401*|FHAD1_ENST00000375999.3_Nonsense_Mutation_p.Q1148*|FHAD1_ENST00000358897.4_Nonsense_Mutation_p.Q1148*|FHAD1_ENST00000417793.1_Nonsense_Mutation_p.Q1112*|FHAD1_ENST00000471347.1_3'UTR			B1AJZ9	FHAD1_HUMAN	forkhead-associated (FHA) phosphopeptide binding domain 1	1148										skin(1)|stomach(1)	2						GGAGGTCATTCAGCGTCAGAA	0.547																																																	0													62.0	57.0	58.0					1																	15701058		692	1591	2283	SO:0001587	stop_gained	114827			AK093300		1p36.21	2012-04-19			ENSG00000142621	ENSG00000142621			29408	protein-coding gene	gene with protein product						11572484	Standard	NM_052929		Approved	KIAA1937	uc001awb.2	B1AJZ9	OTTHUMG00000002088	ENST00000375998.4:c.3442C>T	1.37:g.15701058C>T	ENSP00000365166:p.Gln1148*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6F5|Q8N8D3|Q8N9T6|Q8NA05	Nonsense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_FHA_dom,pfscan_FHA_dom	p.Q1148*	ENST00000375998.4	37	c.3442		1	.	.	.	.	.	.	.	.	.	.	C	38	6.812201	0.97857	.	.	ENSG00000142621	ENST00000358897;ENST00000417793;ENST00000375999;ENST00000375998;ENST00000529606;ENST00000314740;ENST00000314668	.	.	.	5.43	5.43	0.79202	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	15.0864	0.72158	0.0:1.0:0.0:0.0	.	.	.	.	X	1148;1112;1148;1148;419;401;383	.	ENSP00000318812:Q383X	Q	+	1	0	FHAD1	15573645	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	4.959000	0.63666	2.697000	0.92050	0.650000	0.86243	CAG	FHAD1	-	NULL		0.547	FHAD1-026	PUTATIVE	basic|appris_candidate_longest	protein_coding	FHAD1	HGNC	protein_coding	OTTHUMT00000393400.2	C	NM_052929		15701058	+1	no_errors	ENST00000375999	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FKBP10	60681	genome.wustl.edu	37	17	39973375	39973375	+	Missense_Mutation	SNP	G	G	A	rs142507953		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:39973375G>A	ENST00000321562.4	+	2	415	c.311G>A	c.(310-312)cGa>cAa	p.R104Q	FKBP10_ENST00000544340.1_5'Flank	NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	104	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				chaperone-mediated protein folding (GO:0061077)|protein peptidyl-prolyl isomerization (GO:0000413)	endoplasmic reticulum membrane (GO:0005789)	calcium ion binding (GO:0005509)|FK506 binding (GO:0005528)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGCATGGACCGAGGCCTCATG	0.637													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18970	0.0		0.0	False		,,,				2504	0.0																0								G	GLN/ARG	0,4406		0,0,2203	128.0	103.0	112.0		311	5.1	1.0	17	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	missense	FKBP10	NM_021939.3	43	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	104/583	39973375	1,13005	2203	4300	6503	SO:0001583	missense	60681			AB045981	CCDS11409.1	17q21.2	2014-09-17	2002-08-29		ENSG00000141756	ENSG00000141756		"""EF-hand domain containing"""	18169	protein-coding gene	gene with protein product		607063	"""FK506 binding protein 10 (65 kDa)"""			11071917, 18786928	Standard	NM_021939		Approved	hFKBP65, FLJ22041, FKBP6, FLJ20683, FLJ23833	uc002hxv.2	Q96AY3	OTTHUMG00000133497	ENST00000321562.4:c.311G>A	17.37:g.39973375G>A	ENSP00000317232:p.Arg104Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3R4|Q9H3N3|Q9H6J3|Q9H6N5|Q9UF89	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,pfscan_PPIase_FKBP_dom	p.R104Q	ENST00000321562.4	37	c.311	CCDS11409.1	17	.	.	.	.	.	.	.	.	.	.	G	9.579	1.122981	0.20959	0.0	1.16E-4	ENSG00000141756	ENST00000269598;ENST00000429461;ENST00000321562;ENST00000414352	D;D	0.84873	-1.91;-1.91	5.13	5.13	0.70059	Peptidyl-prolyl cis-trans isomerase, FKBP-type, domain (2);	0.083355	0.44902	D	0.000417	T	0.57961	0.2089	N	0.01134	-0.995	0.80722	D	1	P	0.43287	0.802	B	0.36845	0.234	T	0.70425	-0.4875	10	0.06236	T	0.91	-16.5979	13.9354	0.64021	0.0755:0.0:0.9244:0.0	.	104	Q96AY3	FKB10_HUMAN	Q	104;44;104;104	ENSP00000408232:R44Q;ENSP00000317232:R104Q	ENSP00000269598:R104Q	R	+	2	0	FKBP10	37226901	1.000000	0.71417	0.997000	0.53966	0.990000	0.78478	4.507000	0.60434	2.408000	0.81797	0.561000	0.74099	CGA	FKBP10	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.637	FKBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP10	HGNC	protein_coding	OTTHUMT00000257410.2	G	NM_021939		39973375	+1	no_errors	ENST00000321562	ensembl	human	known	70_37	missense	SNP	0.999	A
PRR36	80164	genome.wustl.edu	37	19	7935874	7935874	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:7935874C>T	ENST00000539422.1	-	5	2418	c.2256G>A	c.(2254-2256)ctG>ctA	p.L752L	CTD-3193O13.11_ENST00000597156.1_lincRNA|CTD-3193O13.9_ENST00000593356.1_Intron	NM_001190467.1	NP_001177396.1																					GGGGTGTGGTCAGGGGAGCAG	0.617																																																	0																																										SO:0001819	synonymous_variant	80164																														ENST00000539422.1:c.2256G>A	19.37:g.7935874C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L752	ENST00000539422.1	37	c.2256		19																																																																																			FLJ22184	-	NULL		0.617	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Uniprot_genename	protein_coding		C			7935874	-1	no_errors	ENST00000539422	ensembl	human	known	70_37	silent	SNP	0.340	T
PRR36	80164	genome.wustl.edu	37	19	7935943	7935943	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:7935943C>T	ENST00000539422.1	-	5	2349	c.2187G>A	c.(2185-2187)ctG>ctA	p.L729L	CTD-3193O13.11_ENST00000597156.1_lincRNA|CTD-3193O13.9_ENST00000593356.1_Intron	NM_001190467.1	NP_001177396.1																					GGGGTGTGGTCAGGGAAGCAG	0.612																																																	0																																										SO:0001819	synonymous_variant	80164																														ENST00000539422.1:c.2187G>A	19.37:g.7935943C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L729	ENST00000539422.1	37	c.2187		19																																																																																			FLJ22184	-	NULL		0.612	CTD-3193O13.9-201	KNOWN	basic|appris_principal	protein_coding	FLJ22184	Uniprot_genename	protein_coding		C			7935943	-1	no_errors	ENST00000539422	ensembl	human	known	70_37	silent	SNP	0.002	T
LINC00957	255031	genome.wustl.edu	37	7	44079130	44079130	+	lincRNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:44079130C>T	ENST00000441052.1	+	0	9				RASA4CP_ENST00000446874.1_RNA					long intergenic non-protein coding RNA 957																		TCCTTCTCCTCGATGTCCACG	0.672																																																	0																																												0			BC014556		7p13	2013-06-04			ENSG00000235314	ENSG00000235314		"""Long non-coding RNAs"""	22332	non-coding RNA	RNA, long non-coding							Standard	NR_015401		Approved				OTTHUMG00000155351		7.37:g.44079130C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000441052.1	37	NULL		7																																																																																			AC017116.8	-	-		0.672	LINC00957-001	KNOWN	basic	lincRNA	FLJ35390	Clone_based_vega_gene	lincRNA	OTTHUMT00000339589.1	C			44079130	+1	no_errors	ENST00000441052	ensembl	human	known	70_37	rna	SNP	0.993	T
FLNA	2316	genome.wustl.edu	37	X	153590069	153590069	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153590069G>A	ENST00000369850.3	-	20	3149	c.2913C>T	c.(2911-2913)ctC>ctT	p.L971L	FLNA_ENST00000344736.4_Silent_p.L971L|FLNA_ENST00000360319.4_Silent_p.L971L|FLNA_ENST00000422373.1_Silent_p.L971L	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	971					actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|adenylate cyclase-inhibiting dopamine receptor signaling pathway (GO:0007195)|blood coagulation (GO:0007596)|cell junction assembly (GO:0034329)|cilium assembly (GO:0042384)|cytoplasmic sequestering of protein (GO:0051220)|early endosome to late endosome transport (GO:0045022)|epithelial to mesenchymal transition (GO:0001837)|establishment of protein localization (GO:0045184)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription factor import into nucleus (GO:0042993)|protein localization to cell surface (GO:0034394)|protein stabilization (GO:0050821)|receptor clustering (GO:0043113)|spindle assembly involved in mitosis (GO:0090307)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical dendrite (GO:0097440)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|Myb complex (GO:0031523)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|Fc-gamma receptor I complex binding (GO:0034988)|glycoprotein binding (GO:0001948)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)|Rac GTPase binding (GO:0048365)|Ral GTPase binding (GO:0017160)|Rho GTPase binding (GO:0017048)|signal transducer activity (GO:0004871)|small GTPase binding (GO:0031267)|transcription factor binding (GO:0008134)			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGATCTTGCTGAGGTCCAGGC	0.557																																																	0													99.0	97.0	97.0					X																	153590069		1982	4144	6126	SO:0001819	synonymous_variant	2316			X70082	CCDS44021.1, CCDS48194.1	Xq28	2009-07-23	2009-07-23		ENSG00000196924	ENSG00000196924			3754	protein-coding gene	gene with protein product	"""actin binding protein 280"""	300017	"""filamin A, alpha (actin binding protein 280)"""	FLN1, FLN, OPD2, OPD1		8406501, 12612583	Standard	NM_001456		Approved	ABP-280	uc004fkk.2	P21333	OTTHUMG00000022712	ENST00000369850.3:c.2913C>T	X.37:g.153590069G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E9KL45|Q5HY53|Q5HY55|Q8NF52	Silent	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.L971	ENST00000369850.3	37	c.2913	CCDS48194.1	X																																																																																			FLNA	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.557	FLNA-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNA	HGNC	protein_coding	OTTHUMT00000058942.3	G			153590069	-1	no_errors	ENST00000369850	ensembl	human	known	70_37	silent	SNP	1.000	A
FLNB	2317	genome.wustl.edu	37	3	58098016	58098016	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:58098016C>T	ENST00000295956.4	+	18	2881	c.2716C>T	c.(2716-2718)Cac>Tac	p.H906Y	FLNB_ENST00000358537.3_Missense_Mutation_p.H906Y|FLNB_ENST00000357272.4_Missense_Mutation_p.H906Y|FLNB_ENST00000348383.5_Missense_Mutation_p.H906Y|FLNB_ENST00000429972.2_Missense_Mutation_p.H906Y|FLNB_ENST00000493452.1_Missense_Mutation_p.H737Y|FLNB_ENST00000419752.2_Missense_Mutation_p.H737Y|FLNB_ENST00000490882.1_Missense_Mutation_p.H906Y	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	906					actin cytoskeleton organization (GO:0030036)|cell differentiation (GO:0030154)|cytokine-mediated signaling pathway (GO:0019221)|cytoskeletal anchoring at plasma membrane (GO:0007016)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin binding (GO:0003779)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGACTACTCTCACACGGTTAA	0.557																																																	0													99.0	97.0	97.0					3																	58098016		2203	4300	6503	SO:0001583	missense	2317			AF043045	CCDS2885.1, CCDS54599.1, CCDS54600.1, CCDS54601.1	3p14.3	2011-02-11	2009-07-23		ENSG00000136068	ENSG00000136068			3755	protein-coding gene	gene with protein product	"""actin binding protein 278"""	603381	"""filamin B, beta (actin binding protein 278)"", ""Larsen syndrome 1 (autosomal dominant)"""	FLN1L, LRS1		8327473, 10449914, 14991055, 16801345	Standard	NM_001457		Approved	TAP, TABP, ABP-278, FH1	uc010hne.2	O75369	OTTHUMG00000159158	ENST00000295956.4:c.2716C>T	3.37:g.58098016C>T	ENSP00000295956:p.His906Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ83|B2ZZ84|B2ZZ85|C9JKE6|C9JMC4|Q13706|Q59EC2|Q60FE7|Q6MZJ1|Q8WXS9|Q8WXT0|Q8WXT1|Q8WXT2|Q8WXT3|Q9NRB5|Q9NT26|Q9UEV9	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.H906Y	ENST00000295956.4	37	c.2716	CCDS2885.1	3	.	.	.	.	.	.	.	.	.	.	C	8.000	0.755156	0.15846	.	.	ENSG00000136068	ENST00000295956;ENST00000490882;ENST00000358537;ENST00000429972;ENST00000348383;ENST00000357272;ENST00000493452;ENST00000419752	T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	5.54	5.54	0.83059	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.089728	0.85682	D	0.000000	T	0.64571	0.2610	N	0.00966	-1.09	0.58432	D	0.999998	B;B;D;B;B;B	0.56287	0.013;0.001;0.975;0.001;0.016;0.08	B;B;P;B;B;B	0.59643	0.02;0.009;0.861;0.011;0.034;0.05	T	0.66221	-0.5978	10	0.02654	T	1	.	19.4806	0.95008	0.0:1.0:0.0:0.0	.	906;906;737;737;906;906	O75369-2;B2ZZ83;E7EN95;O75369-7;Q60FE7;O75369	.;.;.;.;.;FLNB_HUMAN	Y	906;906;906;906;906;906;737;737	ENSP00000295956:H906Y;ENSP00000420213:H906Y;ENSP00000351339:H906Y;ENSP00000415599:H906Y;ENSP00000232447:H906Y;ENSP00000349819:H906Y;ENSP00000418510:H737Y;ENSP00000414532:H737Y	ENSP00000295956:H906Y	H	+	1	0	FLNB	58073056	0.995000	0.38212	0.997000	0.53966	0.957000	0.61999	3.276000	0.51646	2.622000	0.88805	0.650000	0.86243	CAC	FLNB	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like		0.557	FLNB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLNB	HGNC	protein_coding	OTTHUMT00000353569.1	C	NM_001457		58098016	+1	no_errors	ENST00000295956	ensembl	human	known	70_37	missense	SNP	1.000	T
FLNC	2318	genome.wustl.edu	37	7	128490064	128490064	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:128490064C>G	ENST00000325888.8	+	31	5495	c.5234C>G	c.(5233-5235)tCt>tGt	p.S1745C	FLNC_ENST00000346177.6_Intron|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1745	Hinge 1.				cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGGAGCCCTCTGAAGTGCCA	0.711																																																	0													13.0	19.0	17.0					7																	128490064		2078	4189	6267	SO:0001583	missense	2318			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5234C>G	7.37:g.128490064C>G	ENSP00000327145:p.Ser1745Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.S1745C	ENST00000325888.8	37	c.5234	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	C	11.93	1.785882	0.31593	.	.	ENSG00000128591	ENST00000325888	D	0.85484	-1.99	5.09	3.16	0.36331	.	0.707074	0.13347	N	0.394704	T	0.71384	0.3333	N	0.08118	0	0.09310	N	0.999996	B	0.02656	0.0	B	0.01281	0.0	T	0.61922	-0.6963	10	0.46703	T	0.11	.	11.7552	0.51872	0.0:0.4785:0.5215:0.0	.	1745	Q14315	FLNC_HUMAN	C	1745	ENSP00000327145:S1745C	ENSP00000327145:S1745C	S	+	2	0	FLNC	128277300	0.246000	0.23909	0.014000	0.15608	0.985000	0.73830	1.521000	0.35910	1.075000	0.40932	0.655000	0.94253	TCT	FLNC	-	NULL		0.711	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3	C			128490064	+1	no_errors	ENST00000325888	ensembl	human	known	70_37	missense	SNP	0.025	G
FLOT2	2319	genome.wustl.edu	37	17	27211323	27211323	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:27211323C>G	ENST00000394908.4	-	3	246	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	FLOT2_ENST00000394906.2_Missense_Mutation_p.E103Q|FLOT2_ENST00000577789.1_Intron|FLOT2_ENST00000585169.1_Intron	NM_004475.2	NP_004466.2	Q14254	FLOT2_HUMAN	flotillin 2	48					cell adhesion (GO:0007155)|epidermis development (GO:0008544)|establishment of protein localization to plasma membrane (GO:0090002)|negative regulation of amyloid precursor protein catabolic process (GO:1902992)|negative regulation of gene expression (GO:0010629)|protein stabilization (GO:0050821)	acrosomal membrane (GO:0002080)|caveola (GO:0005901)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|flotillin complex (GO:0016600)|focal adhesion (GO:0005925)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GTCATAATCTCTAGGGAAATC	0.602																																																	0													50.0	54.0	53.0					17																	27211323		2064	4184	6248	SO:0001583	missense	2319			M60922	CCDS11245.2	17q11-q12	2008-07-18			ENSG00000132589	ENSG00000132589			3758	protein-coding gene	gene with protein product	"""Flotillin 2 (epidermal surface antigen 1)"", ""membrane component, chromosome 17, surface marker 1 (35kD protein identified by monoclonal antibody ECS-1)"""	131560		M17S1		1769667	Standard	XM_005257950		Approved	ESA, ESA1, ECS-1, ECS1	uc002hdc.3	Q14254	OTTHUMG00000132674	ENST00000394908.4:c.142G>C	17.37:g.27211323C>G	ENSP00000378368:p.Glu48Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Band_7,smart_Band_7	p.E48Q	ENST00000394908.4	37	c.142	CCDS11245.2	17	.	.	.	.	.	.	.	.	.	.	C	16.25	3.069808	0.55539	.	.	ENSG00000132589	ENST00000394906;ENST00000394908	T;T	0.56275	0.47;0.47	5.08	5.08	0.68730	.	0.000000	0.64402	U	0.000001	T	0.73830	0.3637	M	0.82630	2.6	0.80722	D	1	D	0.56287	0.975	D	0.64776	0.929	T	0.77164	-0.2688	10	0.52906	T	0.07	-23.1753	17.4593	0.87616	0.0:1.0:0.0:0.0	.	48	Q14254	FLOT2_HUMAN	Q	103;48	ENSP00000378366:E103Q;ENSP00000378368:E48Q	ENSP00000378366:E103Q	E	-	1	0	FLOT2	24235449	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.353000	0.79882	0.563000	0.77884	GAG	FLOT2	-	pfam_Band_7		0.602	FLOT2-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	FLOT2	HGNC	protein_coding	OTTHUMT00000255935.3	C	NM_004475		27211323	-1	no_errors	ENST00000394908	ensembl	human	known	70_37	missense	SNP	1.000	G
FLRT2	23768	genome.wustl.edu	37	14	86092301	86092301	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:86092301C>T	ENST00000330753.4	+	0	5210					NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2						axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTATGGGGTTCACAGAATTAT	0.453																																																	0																																										SO:0001624	3_prime_UTR_variant	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.*2460C>T	14.37:g.86092301C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV84|B7ZLP3	RNA	SNP	-	NULL	ENST00000330753.4	37	NULL	CCDS9877.1	14																																																																																			FLRT2	-	-		0.453	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1	C			86092301	+1	no_errors	ENST00000553650	ensembl	human	putative	70_37	rna	SNP	0.000	T
FLT3	2322	genome.wustl.edu	37	13	28631600	28631600	+	Splice_Site	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:28631600C>T	ENST00000241453.7	-	4	450		c.e4-1		FLT3_ENST00000537084.1_Splice_Site|FLT3_ENST00000380982.4_Splice_Site	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3						B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACAACTCCTCTGCAAAACAG	0.353			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0													76.0	78.0	78.0					13																	28631600		2203	4300	6503	SO:0001630	splice_region_variant	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.369-1G>A	13.37:g.28631600C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Splice_Site	SNP	-	e4-1	ENST00000241453.7	37	c.369-1	CCDS31953.1	13	.	.	.	.	.	.	.	.	.	.	C	20.5	4.006954	0.74932	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9084	0.88926	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	FLT3	27529600	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	4.672000	0.61597	2.659000	0.90383	0.561000	0.74099	.	FLT3	-	-		0.353	FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	FLT3	HGNC	protein_coding	OTTHUMT00000044319.2	C		Intron	28631600	-1	no_errors	ENST00000380982	ensembl	human	known	70_37	splice_site	SNP	1.000	T
FMN2	56776	genome.wustl.edu	37	1	240256491	240256491	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:240256491C>T	ENST00000319653.9	+	1	1312	c.1082C>T	c.(1081-1083)tCt>tTt	p.S361F		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	361					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCGGGGCTCTCCGGGGGAG	0.756																																																	0													5.0	9.0	8.0					1																	240256491		1905	3852	5757	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.1082C>T	1.37:g.240256491C>T	ENSP00000318884:p.Ser361Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.S361F	ENST00000319653.9	37	c.1082	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	C	9.407	1.079516	0.20309	.	.	ENSG00000155816	ENST00000319653	T	0.31769	1.48	3.9	3.9	0.45041	.	0.128366	0.35903	N	0.002910	T	0.23649	0.0572	L	0.47716	1.5	0.80722	D	1	B	0.24963	0.115	B	0.22152	0.038	T	0.18053	-1.0349	10	0.87932	D	0	.	5.0233	0.14372	0.2092:0.6822:0.0:0.1086	.	361	Q9NZ56	FMN2_HUMAN	F	361	ENSP00000318884:S361F	ENSP00000318884:S361F	S	+	2	0	FMN2	238323114	0.847000	0.29606	0.986000	0.45419	0.792000	0.44763	0.533000	0.23082	2.155000	0.67459	0.407000	0.27541	TCT	FMN2	-	NULL		0.756	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	C	XM_371352		240256491	+1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	0.930	T
FMNL3	91010	genome.wustl.edu	37	12	50059693	50059693	+	Splice_Site	SNP	T	T	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:50059693T>G	ENST00000293590.5	-	4	525		c.e4-2		FMNL3_ENST00000335154.5_Splice_Site|FMNL3_ENST00000550488.1_Splice_Site|FMNL3_ENST00000352151.5_Splice_Site			Q8IVF7	FMNL3_HUMAN	formin-like 3						actin cytoskeleton organization (GO:0030036)|cell migration (GO:0016477)|cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)	GTPase activating protein binding (GO:0032794)			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CCTGAACTTCTGTAAAAAGGG	0.507																																																	0													94.0	94.0	94.0					12																	50059693		1931	4156	6087	SO:0001630	splice_region_variant	91010			AK128195	CCDS41780.1, CCDS44874.1	12q13.12	2006-04-10							23698	protein-coding gene	gene with protein product						12684686	Standard	NM_198900		Approved	DKFZp762B245, MGC45819, WBP3	uc001ruv.1	Q8IVF7	OTTHUMG00000169651	ENST00000293590.5:c.292-2A>C	12.37:g.50059693T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0JZA7|Q6ZRJ1	Splice_Site	SNP	-	e4-2	ENST00000293590.5	37	c.292-2		12	.	.	.	.	.	.	.	.	.	.	T	21.6	4.178881	0.78564	.	.	ENSG00000161791	ENST00000335154;ENST00000550488;ENST00000352151;ENST00000293590	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.5477	0.68044	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	FMNL3	48345960	1.000000	0.71417	0.999000	0.59377	0.986000	0.74619	7.703000	0.84585	2.147000	0.66899	0.459000	0.35465	.	FMNL3	-	-		0.507	FMNL3-201	KNOWN	basic	protein_coding	FMNL3	HGNC	protein_coding		T	NM_175736	Intron	50059693	-1	no_errors	ENST00000293590	ensembl	human	known	70_37	splice_site	SNP	1.000	G
FMO5	2330	genome.wustl.edu	37	1	146658596	146658596	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:146658596G>C	ENST00000254090.4	-	9	1873	c.1485C>G	c.(1483-1485)atC>atG	p.I495M	FMO5_ENST00000369272.3_3'UTR|RP11-337C18.8_ENST00000607149.1_RNA|FMO5_ENST00000441068.2_Intron|RP11-337C18.10_ENST00000606856.1_RNA|RP11-337C18.8_ENST00000606757.1_RNA	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	495						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					GAGGCTTCCTGATGCGATCAT	0.458																																																	0													104.0	93.0	97.0					1																	146658596		2203	4300	6503	SO:0001583	missense	2330			Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.1485C>G	1.37:g.146658596G>C	ENSP00000254090:p.Ile495Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBG1|C9JJD1|Q8IV22	Missense_Mutation	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_5,prints_Flavin_mOase_2,prints_Flavin_mOase_1	p.I495M	ENST00000254090.4	37	c.1485	CCDS926.1	1	.	.	.	.	.	.	.	.	.	.	.	15.12	2.738507	0.49045	.	.	ENSG00000131781	ENST00000254090	T	0.55413	0.52	5.8	2.17	0.27698	.	0.115300	0.64402	D	0.000013	T	0.30665	0.0772	L	0.31526	0.94	0.80722	D	1	B	0.31227	0.314	P	0.47430	0.547	T	0.28870	-1.0030	10	0.39692	T	0.17	-13.152	3.8424	0.08920	0.2376:0.0:0.5035:0.2589	.	495	P49326	FMO5_HUMAN	M	495	ENSP00000254090:I495M	ENSP00000254090:I495M	I	-	3	3	FMO5	145125220	0.315000	0.24571	0.946000	0.38457	0.933000	0.57130	0.677000	0.25262	0.135000	0.18707	0.655000	0.94253	ATC	FMO5	-	pfam_Flavin_mOase-like,pirsf_DiMe-aniline_mOase		0.458	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO5	HGNC	protein_coding	OTTHUMT00000040373.2	G	NM_001461		146658596	-1	no_errors	ENST00000254090	ensembl	human	known	70_37	missense	SNP	0.950	C
FMO1	2326	genome.wustl.edu	37	1	171244493	171244493	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:171244493C>G	ENST00000354841.4	+	3	461	c.330C>G	c.(328-330)gtC>gtG	p.V110V	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Silent_p.V47V|FMO1_ENST00000367750.3_Silent_p.V110V	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	110					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	AGACCAAAGTCTGCAGTGTAA	0.403																																																	0													107.0	99.0	102.0					1																	171244493		2203	4300	6503	SO:0001819	synonymous_variant	2326			M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.330C>G	1.37:g.171244493C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Silent	SNP	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_1,prints_Flavin_mOase_2	p.V110	ENST00000354841.4	37	c.330	CCDS1294.1	1																																																																																			FMO1	-	pfam_Flavin_mOase-like,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pirsf_DiMe-aniline_mOase,prints_Flavin_mOase,prints_Flavin_mOase_2		0.403	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	FMO1	HGNC	protein_coding	OTTHUMT00000086212.1	C	NM_002021		171244493	+1	no_errors	ENST00000354841	ensembl	human	known	70_37	silent	SNP	0.998	G
FMR1	2332	genome.wustl.edu	37	X	147014007	147014007	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:147014007C>G	ENST00000370475.4	+	8	822	c.694C>G	c.(694-696)Cta>Gta	p.L232V	FMR1_ENST00000439526.2_Missense_Mutation_p.L232V|FMR1_ENST00000370470.1_Missense_Mutation_p.L232V|FMR1_ENST00000370471.3_Missense_Mutation_p.L232V|FMR1_ENST00000218200.8_Missense_Mutation_p.L232V|FMR1_ENST00000370477.1_Missense_Mutation_p.L232V|FMR1_ENST00000334557.6_Missense_Mutation_p.L232V|FMR1_ENST00000440235.2_5'UTR	NM_002024.5	NP_002015.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	232	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				central nervous system development (GO:0007417)|mRNA transport (GO:0051028)|negative regulation of translational initiation (GO:0045947)	cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytoplasmic stress granule (GO:0010494)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|membrane (GO:0016020)|mRNA cap binding complex (GO:0005845)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|synapse (GO:0045202)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					TCTGATGGGTCTAGCTATTGG	0.398									Fragile X syndrome																																								0													170.0	155.0	160.0					X																	147014007		2203	4300	6503	SO:0001583	missense	2332	Familial Cancer Database	Martin-Bell syndrome, FRAXA syndrome	X69962	CCDS14682.1, CCDS55518.1, CCDS55519.1, CCDS76039.1	Xq27.3	2014-09-17			ENSG00000102081	ENSG00000102081			3775	protein-coding gene	gene with protein product		309550	"""premature ovarian failure 1"""	POF1, POF		1572655	Standard	NM_002024		Approved	FMRP, FRAXA, MGC87458	uc010nst.3	Q06787	OTTHUMG00000022606	ENST00000370475.4:c.694C>G	X.37:g.147014007C>G	ENSP00000359506:p.Leu232Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNH4|D3DWT0|D3DWT1|D3DWT2|G8JL90|Q16578|Q5PQZ6|Q99054	Missense_Mutation	SNP	pfam_Frag_X_MRP_fam,pfam_KH_dom_type_1,pfam_Agenet-like_dom,smart_KH_dom,pfscan_KH_dom_type_1	p.L232V	ENST00000370475.4	37	c.694	CCDS14682.1	X	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711256	0.68730	.	.	ENSG00000102081	ENST00000218200;ENST00000370471;ENST00000370477;ENST00000370475;ENST00000334557;ENST00000439526;ENST00000370470	T;T;T;T;T;T;T	0.30714	1.52;1.52;1.52;1.52;1.52;1.52;1.52	5.78	3.98	0.46160	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.000000	0.85682	D	0.000000	T	0.56171	0.1967	M	0.86178	2.8	0.80722	D	1	D;D;D;D;D	0.89917	0.998;0.998;1.0;1.0;0.999	D;D;D;D;D	0.85130	0.99;0.997;0.997;0.982;0.993	T	0.60161	-0.7317	10	0.62326	D	0.03	-29.1861	9.6481	0.39881	0.0:0.7562:0.0:0.2438	.	232;232;148;232;232	Q8IXW7;Q06787;Q59GC1;Q06787-8;G3V0J0	.;FMR1_HUMAN;.;.;.	V	232	ENSP00000218200:L232V;ENSP00000359502:L232V;ENSP00000359508:L232V;ENSP00000359506:L232V;ENSP00000355115:L232V;ENSP00000395923:L232V;ENSP00000359501:L232V	ENSP00000218200:L232V	L	+	1	2	FMR1	146821699	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.924000	0.40065	1.183000	0.42943	0.538000	0.68166	CTA	FMR1	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.398	FMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMR1	HGNC	protein_coding	OTTHUMT00000058655.1	C	NM_002024		147014007	+1	no_errors	ENST00000370475	ensembl	human	known	70_37	missense	SNP	1.000	G
FN1	2335	genome.wustl.edu	37	2	216242904	216242904	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:216242904G>C	ENST00000359671.1	-	34	5696	c.5431C>G	c.(5431-5433)Ctg>Gtg	p.L1811V	FN1_ENST00000354785.4_Missense_Mutation_p.L1902V|FN1_ENST00000490833.1_5'Flank|FN1_ENST00000356005.4_Missense_Mutation_p.L1721V|FN1_ENST00000323926.6_Missense_Mutation_p.L1902V|FN1_ENST00000432072.2_Missense_Mutation_p.L1812V|FN1_ENST00000336916.4_Missense_Mutation_p.L1811V|FN1_ENST00000345488.5_Missense_Mutation_p.L1811V|FN1_ENST00000357867.4_Missense_Mutation_p.L1721V|FN1_ENST00000443816.1_Missense_Mutation_p.L1721V|FN1_ENST00000421182.1_Missense_Mutation_p.L1721V|FN1_ENST00000346544.3_Missense_Mutation_p.L1811V|FN1_ENST00000446046.1_Missense_Mutation_p.L1811V|FN1_ENST00000357009.2_Missense_Mutation_p.L1811V			P02751	FINC_HUMAN	fibronectin 1	1811	Fibronectin type-III 13. {ECO:0000255|PROSITE-ProRule:PRU00316}.|Heparin-binding 2.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	TTACTCTCCAGAGTGGTGACA	0.413																																																	0													140.0	121.0	127.0					2																	216242904		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.5431C>G	2.37:g.216242904G>C	ENSP00000352696:p.Leu1811Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3	p.L1902V	ENST00000359671.1	37	c.5704		2	.	.	.	.	.	.	.	.	.	.	G	10.53	1.377106	0.24857	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000456923	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.52526	0.68;2.05;2.24;0.8;2.29;1.91;2.29;1.95;2.24;1.96;1.46;0.79;1.33;0.66	5.47	2.31	0.28768	Fibronectin, type III (1);	0.000000	0.50627	D	0.000103	T	0.57681	0.2070	M	0.65498	2.005	0.09310	N	0.999997	P;D;P;P;D;P;P;D;D;D;D;P	0.58620	0.933;0.965;0.913;0.83;0.965;0.94;0.84;0.97;0.963;0.963;0.983;0.948	D;P;P;P;P;P;B;P;D;D;P;P	0.68943	0.961;0.752;0.582;0.693;0.671;0.569;0.34;0.625;0.961;0.961;0.792;0.575	T	0.51857	-0.8652	10	0.09084	T	0.74	.	10.5521	0.45095	0.2725:0.0:0.7275:0.0	.	1811;1812;1902;1721;1721;1811;1811;1812;1721;1721;1902;1811	F8W7G7;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15;P02751	.;.;.;.;.;.;.;.;.;.;.;FINC_HUMAN	V	1721;1902;1811;1721;1902;1812;1811;1811;1811;1811;1811;1721;1812;1721;528	ENSP00000394423:L1721V;ENSP00000323534:L1902V;ENSP00000338200:L1811V;ENSP00000350534:L1721V;ENSP00000346839:L1902V;ENSP00000352696:L1811V;ENSP00000265312:L1811V;ENSP00000273049:L1811V;ENSP00000349509:L1811V;ENSP00000410422:L1811V;ENSP00000415018:L1721V;ENSP00000399538:L1812V;ENSP00000348285:L1721V;ENSP00000416139:L528V	ENSP00000265313:L1812V	L	-	1	2	FN1	215951149	1.000000	0.71417	0.998000	0.56505	0.946000	0.59487	3.330000	0.52068	0.688000	0.31529	0.650000	0.86243	CTG	FN1	-	superfamily_Fibronectin_type3		0.413	FN1-204	KNOWN	basic	protein_coding	FN1	HGNC	protein_coding		G	NM_212476		216242904	-1	no_errors	ENST00000354785	ensembl	human	known	70_37	missense	SNP	0.924	C
FOCAD	54914	genome.wustl.edu	37	9	20764941	20764941	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:20764941G>T	ENST00000380249.1	+	9	932	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	FOCAD_ENST00000338382.6_Nonsense_Mutation_p.E190*	NM_017794.3	NP_060264.3	Q5VW36	FOCAD_HUMAN	focadhesin	190						focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)											TCAGTTACAAGAATATGCTAA	0.388																																																	0													189.0	170.0	176.0					9																	20764941		2203	4300	6503	SO:0001587	stop_gained	54914			AB058700	CCDS34993.1	9p21	2012-03-23	2012-03-23	2012-03-23	ENSG00000188352	ENSG00000188352			23377	protein-coding gene	gene with protein product		614606	"""KIAA1797"""	KIAA1797		22427331	Standard	XM_006716794		Approved	FLJ20375	uc003zog.1	Q5VW36	OTTHUMG00000066930	ENST00000380249.1:c.568G>T	9.37:g.20764941G>T	ENSP00000369599:p.Glu190*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRJ9|Q6ZME1|Q8IZG0|Q96JM8|Q96MS9|Q9BVF3|Q9NX87	Nonsense_Mutation	SNP	pfam_DUF3028,pfam_DUF3730,superfamily_ARM-type_fold	p.E190*	ENST00000380249.1	37	c.568	CCDS34993.1	9	.	.	.	.	.	.	.	.	.	.	G	39	7.856678	0.98528	.	.	ENSG00000188352	ENST00000380249;ENST00000338382	.	.	.	5.98	5.07	0.68467	.	0.225174	0.45361	D	0.000380	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-2.3523	16.116	0.81304	0.0:0.0:0.8651:0.1349	.	.	.	.	X	190	.	ENSP00000344307:E190X	E	+	1	0	KIAA1797	20754941	1.000000	0.71417	1.000000	0.80357	0.644000	0.38419	4.999000	0.63934	1.486000	0.48398	0.591000	0.81541	GAA	FOCAD	-	pfam_DUF3730,superfamily_ARM-type_fold		0.388	FOCAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOCAD	HGNC	protein_coding	OTTHUMT00000143442.1	G	NM_017794		20764941	+1	no_errors	ENST00000338382	ensembl	human	known	70_37	nonsense	SNP	1.000	T
FNBP1	23048	genome.wustl.edu	37	9	132665165	132665165	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:132665165C>G	ENST00000446176.2	-	13	1597	c.1411G>C	c.(1411-1413)Gag>Cag	p.E471Q	FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000355681.3_Missense_Mutation_p.E442Q|FNBP1_ENST00000443566.2_Missense_Mutation_p.E99Q|FNBP1_ENST00000420781.1_Missense_Mutation_p.E462Q	NM_015033.2	NP_055848.1	Q96RU3	FNBP1_HUMAN	formin binding protein 1	471	Interaction with RND2. {ECO:0000250}.|Required for self-association and induction of membrane tubulation.				endocytosis (GO:0006897)	coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|lysosome (GO:0005764)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)|lipid binding (GO:0008289)						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTCTGGGTCTCTACTCGCAGT	0.443			T	MLL	AML																																			Dom	yes		9	9q23	23048	formin binding protein 1 (FBP17)		L	0													110.0	102.0	104.0					9																	132665165		1849	4099	5948	SO:0001583	missense	23048			AB011126	CCDS48040.1	9q34	2008-02-05			ENSG00000187239	ENSG00000187239			17069	protein-coding gene	gene with protein product		606191				9628581, 11438682	Standard	XM_005251815		Approved	FBP17, KIAA0554	uc004byw.1	Q96RU3	OTTHUMG00000020800	ENST00000446176.2:c.1411G>C	9.37:g.132665165C>G	ENSP00000413625:p.Glu471Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60301|Q3MIN8|Q5TC87|Q5TC88|Q6P658|Q7LGG2|Q9H8H8|Q9NWD1	Missense_Mutation	SNP	pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Ribosomal_S20,superfamily_HR1_rho-bd,smart_FCH,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain	p.E471Q	ENST00000446176.2	37	c.1411	CCDS48040.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.0|22.0	4.232334|4.232334	0.79688|0.79688	.|.	.|.	ENSG00000187239|ENSG00000187239	ENST00000372416;ENST00000446176;ENST00000420781;ENST00000372415;ENST00000443566;ENST00000355681|ENST00000449089	T;T;T;T|.	0.32023|.	1.47;1.47;1.47;1.47|.	5.76|5.76	5.76|5.76	0.90799|0.90799	.|.	0.108809|.	0.64402|.	D|.	0.000005|.	T|.	0.78142|.	0.4237|.	M|M	0.77820|0.77820	2.39|2.39	0.80722|0.80722	D|D	1|1	B;D;D;P;D;D;P;D|.	0.89917|.	0.112;1.0;0.992;0.93;1.0;1.0;0.729;0.999|.	B;D;D;P;D;D;P;D|.	0.78314|.	0.082;0.985;0.917;0.688;0.991;0.979;0.544;0.953|.	T|.	0.77308|.	-0.2636|.	10|.	0.87932|.	D|.	0|.	-41.9702|-41.9702	18.9453|18.9453	0.92620|0.92620	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	466;461;99;405;442;422;466;471|.	B7ZL12;B7ZL13;E7EPB7;B7ZL14;Q96RU3-3;Q5QP69;Q96RU3-2;Q96RU3|.	.;.;.;.;.;.;.;FNBP1_HUMAN|.	Q|Y	471;471;462;471;99;442|422	ENSP00000413625:E471Q;ENSP00000407548:E462Q;ENSP00000389117:E99Q;ENSP00000347907:E442Q|.	ENSP00000347907:E442Q|.	E|X	-|-	1|3	0|2	FNBP1|FNBP1	131704986|131704986	1.000000|1.000000	0.71417|0.71417	0.918000|0.918000	0.36340|0.36340	0.705000|0.705000	0.40729|0.40729	7.487000|7.487000	0.81328|0.81328	2.721000|2.721000	0.93114|0.93114	0.655000|0.655000	0.94253|0.94253	GAG|TAG	FNBP1	-	superfamily_HR1_rho-bd		0.443	FNBP1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FNBP1	HGNC	protein_coding	OTTHUMT00000054630.2	C			132665165	-1	no_errors	ENST00000372416	ensembl	human	known	70_37	missense	SNP	0.999	G
FOXR2	139628	genome.wustl.edu	37	X	55650925	55650925	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:55650925G>A	ENST00000339140.3	+	1	1093	c.781G>A	c.(781-783)Gat>Aat	p.D261N		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	261					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TAAGGATGAAGATAATGCAAG	0.522																																																	0													88.0	80.0	83.0					X																	55650925		2203	4300	6503	SO:0001583	missense	139628			BC012934	CCDS35308.1	Xp11	2006-12-15			ENSG00000189299	ENSG00000189299		"""Forkhead boxes"""	30469	protein-coding gene	gene with protein product						15202009, 15202027	Standard	NM_198451		Approved	MGC21658, FOXN6	uc004duo.3	Q6PJQ5	OTTHUMG00000021661	ENST00000339140.3:c.781G>A	X.37:g.55650925G>A	ENSP00000427329:p.Asp261Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,prints_TF_fork_head,pfscan_TF_fork_head	p.D261N	ENST00000339140.3	37	c.781	CCDS35308.1	X	.	.	.	.	.	.	.	.	.	.	G	6.050	0.377568	0.11466	.	.	ENSG00000189299	ENST00000339140	D	0.95342	-3.68	3.57	-7.13	0.01532	Winged helix-turn-helix transcription repressor DNA-binding (1);Transcription factor, fork head (3);	2.386240	0.01645	N	0.024271	D	0.87426	0.6174	N	0.12746	0.255	0.09310	N	1	B	0.09022	0.002	B	0.09377	0.004	T	0.79834	-0.1636	10	0.40728	T	0.16	.	10.774	0.46340	0.6883:0.1981:0.1136:0.0	.	261	Q6PJQ5	FOXR2_HUMAN	N	261	ENSP00000427329:D261N	ENSP00000427329:D261N	D	+	1	0	FOXR2	55667650	0.002000	0.14202	0.000000	0.03702	0.000000	0.00434	-0.125000	0.10579	-3.545000	0.00143	-0.909000	0.02823	GAT	FOXR2	-	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head		0.522	FOXR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXR2	HGNC	protein_coding	OTTHUMT00000056877.2	G	NM_198451		55650925	+1	no_errors	ENST00000339140	ensembl	human	known	70_37	missense	SNP	0.000	A
FOXO4	4303	genome.wustl.edu	37	X	70316571	70316571	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:70316571G>A	ENST00000374259.3	+	1	525	c.193G>A	c.(193-195)Gag>Aag	p.E65K	FOXO4_ENST00000341558.3_Intron|FOXO4_ENST00000466874.1_Intron	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	65					cell cycle arrest (GO:0007050)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|mitotic G2 DNA damage checkpoint (GO:0007095)|muscle organ development (GO:0007517)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G0 to G1 transition (GO:0070317)|negative regulation of smooth muscle cell differentiation (GO:0051151)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					GGGGCGCTCAGAGCCGATCCT	0.701																																																	0													13.0	14.0	14.0					X																	70316571		1834	4064	5898	SO:0001583	missense	4303				CCDS43969.1, CCDS55440.1	Xq13.1	2008-02-05	2007-05-02	2007-05-02	ENSG00000184481	ENSG00000184481		"""Forkhead boxes"""	7139	protein-coding gene	gene with protein product		300033	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 7"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 7"""	MLLT7		7529552	Standard	NM_005938		Approved	AFX1	uc004dys.2	P98177	OTTHUMG00000021789	ENST00000374259.3:c.193G>A	X.37:g.70316571G>A	ENSP00000363377:p.Glu65Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPJ7|O43821|Q13720|Q3KPF1|Q8TDK9	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E65K	ENST00000374259.3	37	c.193	CCDS43969.1	X	.	.	.	.	.	.	.	.	.	.	G	0.477	-0.881809	0.02530	.	.	ENSG00000184481	ENST00000374259	D	0.95001	-3.58	4.3	3.43	0.39272	.	0.332844	0.25639	N	0.029289	D	0.87341	0.6153	N	0.25647	0.755	0.27827	N	0.941591	B;B	0.16802	0.01;0.019	B;B	0.20184	0.007;0.028	T	0.71922	-0.4446	10	0.07813	T	0.8	-22.714	9.3032	0.37858	0.1101:0.0:0.8899:0.0	.	65;65	B4DTB6;P98177	.;FOXO4_HUMAN	K	65	ENSP00000363377:E65K	ENSP00000363377:E65K	E	+	1	0	FOXO4	70233296	0.000000	0.05858	0.029000	0.17559	0.022000	0.10575	0.378000	0.20569	0.949000	0.37715	0.594000	0.82650	GAG	FOXO4	-	NULL		0.701	FOXO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FOXO4	HGNC	protein_coding	OTTHUMT00000057115.1	G	NM_005938		70316571	+1	no_errors	ENST00000374259	ensembl	human	known	70_37	missense	SNP	0.041	A
FPGT	8790	genome.wustl.edu	37	1	74670707	74670707	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:74670707G>C	ENST00000609362.1	+	4	1013	c.976G>C	c.(976-978)Gaa>Caa	p.E326Q	FPGT_ENST00000370894.5_Intron|FPGT_ENST00000524915.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.E339Q|FPGT-TNNI3K_ENST00000533006.1_Intron|FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT_ENST00000534056.1_Intron	NM_003838.4	NP_003829.3	O14772	FPGT_HUMAN	fucose-1-phosphate guanylyltransferase	326					fucose metabolic process (GO:0006004)	cytoplasm (GO:0005737)	catalytic activity (GO:0003824)|fucose-1-phosphate guanylyltransferase activity (GO:0047341)|GTP binding (GO:0005525)			breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TGTCATTAAAGAAGAGTCAGA	0.383																																																	0													69.0	70.0	70.0					1																	74670707		2203	4300	6503	SO:0001583	missense	8790			AF017445	CCDS663.1, CCDS663.2	1p31.1	2013-09-24			ENSG00000254685	ENSG00000254685	2.7.7.30		3825	protein-coding gene	gene with protein product		603609				9804772	Standard	NM_003838		Approved	GFPP		O14772	OTTHUMG00000009571	ENST00000609362.1:c.976G>C	1.37:g.74670707G>C	ENSP00000476680:p.Glu326Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMH3|B4DRX2|B4E2Y7|E9PNQ2|Q8N5J7	Missense_Mutation	SNP	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase	p.E326Q	ENST00000609362.1	37	c.976	CCDS663.1	1	.	.	.	.	.	.	.	.	.	.	G	9.895	1.205178	0.22205	.	.	ENSG00000254685	ENST00000370898	T	0.33865	1.39	5.66	5.66	0.87406	L-fucokinase (1);	.	.	.	.	T	0.25717	0.0626	L	0.53249	1.67	0.80722	D	1	P	0.42078	0.77	B	0.42692	0.395	T	0.02385	-1.1167	8	.	.	.	.	13.0178	0.58768	0.0734:0.0:0.9266:0.0	.	326	O14772	FPGT_HUMAN	Q	326	ENSP00000359935:E326Q	.	E	+	1	0	TNNI3K	74443295	1.000000	0.71417	1.000000	0.80357	0.562000	0.35680	5.079000	0.64431	2.666000	0.90696	0.655000	0.94253	GAA	FPGT	-	pfam_Fucokinase,superfamily_Trimer_LpxA-like,pirsf_Fucose-1-phosphate_GuaTrfase		0.383	FPGT-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FPGT	HGNC	protein_coding		G			74670707	+1	no_errors	ENST00000370898	ensembl	human	known	70_37	missense	SNP	1.000	C
FRA10AC1	118924	genome.wustl.edu	37	10	95458071	95458071	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:95458071C>G	ENST00000359204.4	-	3	357	c.160G>C	c.(160-162)Gaa>Caa	p.E54Q	FRA10AC1_ENST00000371430.2_Missense_Mutation_p.E54Q|FRA10AC1_ENST00000536233.1_Missense_Mutation_p.E54Q|FRA10AC1_ENST00000394100.2_Missense_Mutation_p.E54Q	NM_145246.4	NP_660289.2	Q70Z53	F10C1_HUMAN	fragile site, folic acid type, rare, fra(10)(q23.3) or fra(10)(q24.2) candidate 1	54						nucleus (GO:0005634)				NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(1)	14						TCCAGCAATTCTGCTGCAACT	0.338																																																	0													127.0	123.0	124.0					10																	95458071		2203	4300	6503	SO:0001583	missense	118924			AK090955	CCDS7430.1	10q23.33	2014-01-28	2010-05-25	2010-05-25	ENSG00000148690	ENSG00000148690			1162	protein-coding gene	gene with protein product		608866	"""chromosome 10 open reading frame 4"""	C10orf4		15203205	Standard	NM_145246		Approved		uc001kiz.2	Q70Z53	OTTHUMG00000018776	ENST00000359204.4:c.160G>C	10.37:g.95458071C>G	ENSP00000360488:p.Glu54Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCR4|C9JCR5|C9JMY4|Q70Z49|Q70Z50|Q70Z51|Q70Z52|Q8N293|Q8WVH5|Q96JQ8	Missense_Mutation	SNP	pfam_Folate-sensitive_fs_Fra10Ac1	p.E54Q	ENST00000359204.4	37	c.160	CCDS7430.1	10	.	.	.	.	.	.	.	.	.	.	C	12.04	1.817307	0.32145	.	.	ENSG00000148690	ENST00000359204;ENST00000536233;ENST00000371426;ENST00000371430;ENST00000394100	T;T;T;T	0.24350	1.9;1.89;1.86;1.88	5.71	5.71	0.89125	.	0.449072	0.28301	N	0.015858	T	0.25717	0.0626	L	0.43152	1.355	0.27338	N	0.956596	P;P;B	0.38420	0.63;0.63;0.242	B;B;B	0.34652	0.187;0.101;0.043	T	0.10590	-1.0623	10	0.34782	T	0.22	-24.6587	19.8712	0.96852	0.0:1.0:0.0:0.0	.	54;54;54	F8WCS9;Q70Z53-2;Q70Z53	.;.;F10C1_HUMAN	Q	54	ENSP00000360488:E54Q;ENSP00000438405:E54Q;ENSP00000360484:E54Q;ENSP00000377660:E54Q	ENSP00000360488:E54Q	E	-	1	0	FRA10AC1	95448061	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	3.600000	0.54052	2.713000	0.92767	0.655000	0.94253	GAA	FRA10AC1	-	NULL		0.338	FRA10AC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRA10AC1	HGNC	protein_coding	OTTHUMT00000049439.1	C	NM_145246		95458071	-1	no_errors	ENST00000359204	ensembl	human	known	70_37	missense	SNP	1.000	G
FRY	10129	genome.wustl.edu	37	13	32863860	32863860	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:32863860G>A	ENST00000380250.3	+	59	9056	c.8560G>A	c.(8560-8562)Gaa>Aaa	p.E2854K	FRY_ENST00000542859.1_Missense_Mutation_p.E224K|FRY_ENST00000380217.1_Missense_Mutation_p.E36K	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2854						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCAGGTGCACGAAGTTAGCTC	0.468																																																	0													85.0	82.0	83.0					13																	32863860		2004	4176	6180	SO:0001583	missense	10129			AL049784	CCDS41875.1	13q13.1	2008-02-05	2005-11-24	2005-11-24	ENSG00000073910	ENSG00000073910			20367	protein-coding gene	gene with protein product		614818	"""chromosome 13 open reading frame 14"""	C13orf14		14702039, 8812419	Standard	NM_023037		Approved	bA37E23.1, 13CDNA73, CG003	uc001utx.3	Q5TBA9	OTTHUMG00000016696	ENST00000380250.3:c.8560G>A	13.37:g.32863860G>A	ENSP00000369600:p.Glu2854Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y3N6	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.E2854K	ENST00000380250.3	37	c.8560	CCDS41875.1	13	.	.	.	.	.	.	.	.	.	.	G	23.9	4.467989	0.84533	.	.	ENSG00000073910	ENST00000380250;ENST00000542859;ENST00000380217	T	0.22134	1.97	5.69	5.69	0.88448	.	0.103882	0.64402	D	0.000004	T	0.20495	0.0493	L	0.44542	1.39	0.52501	D	0.999955	P	0.38729	0.644	B	0.28849	0.095	T	0.02464	-1.1155	10	0.62326	D	0.03	.	20.181	0.98201	0.0:0.0:1.0:0.0	.	2854	Q5TBA9	FRY_HUMAN	K	2854;224;36	ENSP00000369600:E2854K	ENSP00000369565:E36K	E	+	1	0	FRY	31761860	1.000000	0.71417	0.993000	0.49108	0.989000	0.77384	6.563000	0.73964	2.840000	0.97914	0.655000	0.94253	GAA	FRY	-	NULL		0.468	FRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRY	HGNC	protein_coding	OTTHUMT00000044405.1	G	NM_023037		32863860	+1	no_errors	ENST00000380250	ensembl	human	known	70_37	missense	SNP	1.000	A
FRZB	2487	genome.wustl.edu	37	2	183731215	183731215	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:183731215G>C	ENST00000295113.4	-	1	675	c.66C>G	c.(64-66)ctC>ctG	p.L22L		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	22					brain development (GO:0007420)|cochlea morphogenesis (GO:0090103)|convergent extension involved in organogenesis (GO:0060029)|epithelium development (GO:0060429)|gonad development (GO:0008406)|mammary gland involution (GO:0060056)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell development (GO:0010721)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of hepatocyte differentiation (GO:0070367)|negative regulation of Wnt signaling pathway (GO:0030178)|neural crest cell differentiation (GO:0014033)|positive regulation of apoptotic process (GO:0043065)|positive regulation of fat cell differentiation (GO:0045600)|skeletal system development (GO:0001501)|somite development (GO:0061053)|vasculature development (GO:0001944)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane (GO:0016020)	PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGAGCAGGCAGAGAGCAGCCA	0.706																																																	0													12.0	12.0	12.0					2																	183731215		2200	4290	6490	SO:0001819	synonymous_variant	2487			U24163	CCDS2286.1	2q32.1	2013-09-19			ENSG00000162998	ENSG00000162998		"""Secreted frizzled-related proteins"""	3959	protein-coding gene	gene with protein product		605083				8824257, 9118218	Standard	NM_001463		Approved	FRZB-PEN, FRZB1, SRFP3, FRP-3, SFRP3, FRE, FRITZ, FRZB-1, FZRB, hFIZ	uc002upa.2	Q92765	OTTHUMG00000132597	ENST00000295113.4:c.66C>G	2.37:g.183731215G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O00181|Q99686	Silent	SNP	pfam_Frizzled_dom,pfam_Netrin_module_non-TIMP,superfamily_Frizzled_dom,superfamily_TIMP-like_OB-fold,smart_Frizzled_dom,smart_Netrin_module_non-TIMP,pfscan_Frizzled_dom,pfscan_Netrin_domain	p.L22	ENST00000295113.4	37	c.66	CCDS2286.1	2																																																																																			FRZB	-	NULL		0.706	FRZB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FRZB	HGNC	protein_coding	OTTHUMT00000255808.1	G	NM_001463		183731215	-1	no_errors	ENST00000295113	ensembl	human	known	70_37	silent	SNP	0.978	C
FSD1L	83856	genome.wustl.edu	37	9	108270984	108270984	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:108270984C>G	ENST00000481272.1	+	9	1002	c.883C>G	c.(883-885)Cta>Gta	p.L295V	FSD1L_ENST00000374707.1_Missense_Mutation_p.L76V|FSD1L_ENST00000495708.1_Missense_Mutation_p.L295V|FSD1L_ENST00000484973.1_Missense_Mutation_p.L263V|FSD1L_ENST00000374710.3_Missense_Mutation_p.L263V|FSD1L_ENST00000394926.3_Missense_Mutation_p.L263V|FSD1L_ENST00000539376.1_Missense_Mutation_p.L138V	NM_001145313.1	NP_001138785.1	Q9BXM9	FSD1L_HUMAN	fibronectin type III and SPRY domain containing 1-like	295	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.									NS(1)|endometrium(1)	2						TCCAGTGACTCTAGAGACCAA	0.373																																																	0													155.0	133.0	140.0					9																	108270984		692	1591	2283	SO:0001583	missense	83856			AF316830	CCDS6765.2, CCDS47999.1, CCDS6765.3, CCDS75870.1	9q31	2013-02-11	2006-03-10	2006-03-10	ENSG00000106701	ENSG00000106701		"""Fibronectin type III domain containing"""	13753	protein-coding gene	gene with protein product		609829	"""cystatin and DUF19 domain containing 1"", ""coiled-coil domain containing 10"""	CSDUFD1, CCDC10, FSD1NL, FSD1CL		11267680	Standard	XM_005252254		Approved		uc004bcq.2	Q9BXM9	OTTHUMG00000020426	ENST00000481272.1:c.883C>G	9.37:g.108270984C>G	ENSP00000417492:p.Leu295Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A338|A6NKH7|B7Z5S6|B7Z5W3|Q5T879|Q5T880	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin	p.L138V	ENST00000481272.1	37	c.412	CCDS47999.1	9	.	.	.	.	.	.	.	.	.	.	C	13.58	2.278860	0.40294	.	.	ENSG00000106701	ENST00000495708;ENST00000374710;ENST00000481272;ENST00000484973;ENST00000394926;ENST00000539376;ENST00000374707	T;T;T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92;0.92;0.92	5.09	2.99	0.34606	Concanavalin A-like lectin/glucanase (1);Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.64402	D	0.000017	T	0.41650	0.1168	L	0.56280	1.765	0.37941	D	0.93234	P;P;P	0.44877	0.845;0.714;0.598	P;B;P	0.48524	0.58;0.288;0.481	T	0.37056	-0.9722	10	0.33940	T	0.23	.	6.9212	0.24389	0.0:0.6204:0.0:0.3796	.	263;295;263	F8W946;Q9BXM9;Q9BXM9-2	.;FSD1L_HUMAN;.	V	295;263;295;263;263;138;76	ENSP00000420624:L295V;ENSP00000363842:L263V;ENSP00000417492:L295V;ENSP00000419691:L263V;ENSP00000378384:L263V;ENSP00000438140:L138V;ENSP00000363839:L76V	ENSP00000363839:L76V	L	+	1	2	FSD1L	107310805	0.964000	0.33143	0.994000	0.49952	0.980000	0.70556	0.800000	0.27042	1.135000	0.42183	0.561000	0.74099	CTA	FSD1L	-	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3		0.373	FSD1L-007	NOVEL	basic|CCDS	protein_coding	FSD1L	HGNC	protein_coding	OTTHUMT00000349935.1	C	NM_207647		108270984	+1	no_errors	ENST00000539376	ensembl	human	known	70_37	missense	SNP	0.994	G
PSMC5	5705	genome.wustl.edu	37	17	61904804	61904804	+	5'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:61904804C>T	ENST00000310144.6	+	0	262				PSMC5_ENST00000375812.4_5'Flank|PSMC5_ENST00000580864.1_5'Flank|FTSJ3_ENST00000580295.1_5'UTR|PSMC5_ENST00000581882.1_5'Flank|PSMC5_ENST00000582420.1_3'UTR|FTSJ3_ENST00000427159.2_5'UTR	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TCCGCGCTTGCGCGCCAAGAC	0.642																																																	0													10.0	12.0	11.0					17																	61904804		1725	3127	4852	SO:0001623	5_prime_UTR_variant	117246			L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.-47C>T	17.37:g.61904804C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	RNA	SNP	-	NULL	ENST00000310144.6	37	NULL	CCDS11645.1	17																																																																																			FTSJ3	-	-		0.642	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FTSJ3	HGNC	protein_coding	OTTHUMT00000444404.1	C	NM_002805		61904804	-1	no_errors	ENST00000580295	ensembl	human	known	70_37	rna	SNP	1.000	T
FUCA2	2519	genome.wustl.edu	37	6	143816982	143816982	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:143816982C>T	ENST00000002165.6	-	7	1321	c.1266G>A	c.(1264-1266)gtG>gtA	p.V422V	RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	422					fucose metabolic process (GO:0006004)|glycoside catabolic process (GO:0016139)|regulation of entry of bacterium into host cell (GO:2000535)|response to bacterium (GO:0009617)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	alpha-L-fucosidase activity (GO:0004560)|fucose binding (GO:0042806)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCAGTAGTTTCACCTGAAATT	0.388																																																	0													86.0	81.0	83.0					6																	143816982		2203	4300	6503	SO:0001819	synonymous_variant	2519			BC003060	CCDS5200.1	6q24	2012-10-02			ENSG00000001036	ENSG00000001036	3.2.1.51		4008	protein-coding gene	gene with protein product		136820				6590153	Standard	NM_032020		Approved	MGC1314, dJ20N2.5	uc003qjm.3	Q9BTY2	OTTHUMG00000015728	ENST00000002165.6:c.1266G>A	6.37:g.143816982C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PEB6|Q7Z6V1|Q7Z6Y2|Q8NBK4	Silent	SNP	pfam_Glyco_hydro_29,superfamily_Glycoside_hydrolase_SF,smart_Glyco_hydro_29,pirsf_Glyco_hydro_29_sub,prints_Glyco_hydro_29_sub	p.V422	ENST00000002165.6	37	c.1266	CCDS5200.1	6																																																																																			FUCA2	-	pirsf_Glyco_hydro_29_sub		0.388	FUCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUCA2	HGNC	protein_coding	OTTHUMT00000042521.2	C	NM_032020		143816982	-1	no_errors	ENST00000002165	ensembl	human	known	70_37	silent	SNP	0.990	T
FYCO1	79443	genome.wustl.edu	37	3	46008989	46008989	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:46008989C>T	ENST00000296137.2	-	8	2042	c.1837G>A	c.(1837-1839)Gag>Aag	p.E613K	FYCO1_ENST00000535325.1_Missense_Mutation_p.E613K	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	613					plus-end-directed vesicle transport along microtubule (GO:0072383)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)	metal ion binding (GO:0046872)			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TGCCGGAGCTCTTCCTCCTGG	0.622																																																	0													75.0	83.0	81.0					3																	46008989		2202	4300	6502	SO:0001583	missense	79443			AJ292348	CCDS2734.1	3p21.3	2008-02-05			ENSG00000163820	ENSG00000163820		"""Zinc fingers, FYVE domain containing"""	14673	protein-coding gene	gene with protein product		607182				11896456	Standard	NM_024513		Approved	FLJ13335, ZFYVE7	uc003cpb.5	Q9BQS8	OTTHUMG00000133447	ENST00000296137.2:c.1837G>A	3.37:g.46008989C>T	ENSP00000296137:p.Glu613Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT7|Q3MJE6|Q86T41|Q86TB1|Q8TEF9|Q96IV5|Q9H8P9	Missense_Mutation	SNP	pfam_Znf_FYVE,pfam_Run,superfamily_GOLD,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Znf_FYVE,pfscan_GOLD,pfscan_Run,pfscan_Znf_FYVE-rel	p.E613K	ENST00000296137.2	37	c.1837	CCDS2734.1	3	.	.	.	.	.	.	.	.	.	.	C	0.013	-1.643764	0.00792	.	.	ENSG00000163820	ENST00000296137;ENST00000535325	T;T	0.17528	2.27;2.28	5.62	-5.39	0.02664	.	0.820159	0.11679	N	0.540039	T	0.03959	0.0111	N	0.02391	-0.57	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.001	T	0.38520	-0.9657	10	0.02654	T	1	-0.8909	6.9154	0.24357	0.0:0.1547:0.3461:0.4992	.	613;613	B7ZKT7;Q9BQS8	.;FYCO1_HUMAN	K	613	ENSP00000296137:E613K;ENSP00000441178:E613K	ENSP00000296137:E613K	E	-	1	0	FYCO1	45983993	0.000000	0.05858	0.000000	0.03702	0.184000	0.23303	-0.318000	0.08050	-0.991000	0.03476	0.655000	0.94253	GAG	FYCO1	-	NULL		0.622	FYCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FYCO1	HGNC	protein_coding	OTTHUMT00000257320.2	C	NM_024513		46008989	-1	no_errors	ENST00000535325	ensembl	human	known	70_37	missense	SNP	0.003	T
GABRQ	55879	genome.wustl.edu	37	X	151818973	151818973	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:151818973C>T	ENST00000370306.2	+	7	851	c.831C>T	c.(829-831)gtC>gtT	p.V277V		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	277					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)	p.V277V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GGCCTACTGTCCTCACCACTA	0.473																																																	1	Substitution - coding silent(1)	lung(1)											371.0	302.0	326.0					X																	151818973		2203	4300	6503	SO:0001819	synonymous_variant	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.831C>T	X.37:g.151818973C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.V277	ENST00000370306.2	37	c.831	CCDS14707.1	X																																																																																			GABRQ	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.473	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	C	NM_018558		151818973	+1	no_errors	ENST00000370306	ensembl	human	known	70_37	silent	SNP	0.999	T
GANAB	23193	genome.wustl.edu	37	11	62400673	62400673	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62400673G>A	ENST00000356638.3	-	7	717	c.701C>T	c.(700-702)tCt>tTt	p.S234F	GANAB_ENST00000540933.1_Missense_Mutation_p.S137F|GANAB_ENST00000346178.4_Missense_Mutation_p.S256F|GANAB_ENST00000534779.1_Missense_Mutation_p.S142F|GANAB_ENST00000534422.1_5'UTR	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	234					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	CTTGCTGTCAGAGTGAGTTTT	0.537																																					Melanoma(23;1005 1074 15747 18937)												0													122.0	123.0	123.0					11																	62400673		2202	4299	6501	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.701C>T	11.37:g.62400673G>A	ENSP00000349053:p.Ser234Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.S256F	ENST00000356638.3	37	c.767	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376659	0.24857	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88277	-2.36;-2.31;-1.95;-2.36	5.14	5.14	0.70334	Glycoside hydrolase-type carbohydrate-binding (1);	0.382506	0.27473	N	0.019203	D	0.86285	0.5896	L	0.39898	1.24	0.29827	N	0.830348	B;B;B;B	0.22276	0.042;0.042;0.02;0.067	B;B;B;B	0.35899	0.106;0.106;0.106;0.213	T	0.76255	-0.3026	10	0.15066	T	0.55	-9.32	16.153	0.81636	0.0:0.0:1.0:0.0	.	120;142;234;256	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	F	256;234;142;137	ENSP00000340466:S256F;ENSP00000349053:S234F;ENSP00000435306:S142F;ENSP00000442962:S137F	ENSP00000340466:S256F	S	-	2	0	GANAB	62157249	0.963000	0.33076	0.997000	0.53966	0.849000	0.48306	3.406000	0.52637	2.673000	0.90976	0.557000	0.71058	TCT	GANAB	-	superfamily_Glyco_hydro-type_carb-bd		0.537	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	G	NM_198334		62400673	-1	no_errors	ENST00000346178	ensembl	human	known	70_37	missense	SNP	0.665	A
GARNL3	84253	genome.wustl.edu	37	9	130117612	130117612	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:130117612G>C	ENST00000373387.4	+	20	2148	c.1796G>C	c.(1795-1797)aGa>aCa	p.R599T	GARNL3_ENST00000314904.5_Missense_Mutation_p.R599T|GARNL3_ENST00000435213.2_Missense_Mutation_p.R577T	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	599	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)|small GTPase regulator activity (GO:0005083)			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						CACCACAGCAGAGAGCTGAGG	0.498																																																	0													191.0	188.0	189.0					9																	130117612		2203	4300	6503	SO:0001583	missense	84253			BC034983	CCDS6869.2, CCDS69663.1	9q34.13	2009-09-14	2004-08-09		ENSG00000136895	ENSG00000136895			25425	protein-coding gene	gene with protein product			"""GTPase activating RANGAP domain-like 3"""			11230166	Standard	NM_032293		Approved	DKFZp761J1523, bA356B19.1	uc011mae.2	Q5VVW2	OTTHUMG00000020700	ENST00000373387.4:c.1796G>C	9.37:g.130117612G>C	ENSP00000362485:p.Arg599Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DEP7|B7Z3Q6|Q8IYU1|Q8N951|Q8ND89|Q9BQH6	Missense_Mutation	SNP	pfam_Citron,pfam_Rap_GAP,smart_Citron,pfscan_Rap_GAP	p.R599T	ENST00000373387.4	37	c.1796	CCDS6869.2	9	.	.	.	.	.	.	.	.	.	.	G	9.110	1.006264	0.19199	.	.	ENSG00000136895	ENST00000435213;ENST00000314904;ENST00000373387	T;T;T	0.05081	3.5;3.5;3.5	5.48	1.6	0.23607	Citron-like (2);	0.517672	0.22384	N	0.060772	T	0.02533	0.0077	N	0.03608	-0.345	0.26131	N	0.980415	B;B	0.16396	0.003;0.017	B;B	0.18561	0.011;0.022	T	0.47315	-0.9127	9	.	.	.	.	8.4853	0.33067	0.3794:0.0:0.6206:0.0	.	599;577	Q5VVW2;B7Z3Q6	GARL3_HUMAN;.	T	577;599;599	ENSP00000396205:R577T;ENSP00000313970:R599T;ENSP00000362485:R599T	.	R	+	2	0	GARNL3	129157433	0.671000	0.27521	1.000000	0.80357	0.991000	0.79684	0.876000	0.28092	0.692000	0.31613	0.563000	0.77884	AGA	GARNL3	-	pfam_Citron,smart_Citron		0.498	GARNL3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GARNL3	HGNC	protein_coding	OTTHUMT00000054151.3	G	NM_032293		130117612	+1	no_errors	ENST00000373387	ensembl	human	known	70_37	missense	SNP	0.951	C
GCM2	9247	genome.wustl.edu	37	6	10876194	10876194	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:10876194C>T	ENST00000379491.4	-	4	659	c.512G>A	c.(511-513)aGa>aAa	p.R171K	RP11-637O19.3_ENST00000480294.1_Intron|SYCP2L_ENST00000543878.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	171					cell differentiation (GO:0030154)|cellular calcium ion homeostasis (GO:0006874)|cellular phosphate ion homeostasis (GO:0030643)|cellular response to organic substance (GO:0071310)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|parathyroid gland development (GO:0060017)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				GGCGCTTCTTCTAGCTTCTGT	0.458																																																	0													219.0	178.0	192.0					6																	10876194		2203	4300	6503	SO:0001583	missense	9247			AF079550	CCDS4517.1	6p24.2	2008-08-29	2001-11-28	2002-09-27	ENSG00000124827	ENSG00000124827			4198	protein-coding gene	gene with protein product		603716	"""glial cells missing (Drosophila) homolog b"""	GCMB		9928992	Standard	NM_004752		Approved	hGCMb	uc003mzn.4	O75603	OTTHUMG00000014249	ENST00000379491.4:c.512G>A	6.37:g.10876194C>T	ENSP00000368805:p.Arg171Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3GDV6|Q5THN5	Missense_Mutation	SNP	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif	p.R171K	ENST00000379491.4	37	c.512	CCDS4517.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.736662	0.96865	.	.	ENSG00000124827	ENST00000379491	T	0.73681	-0.77	5.67	5.67	0.87782	.	0.000000	0.85682	D	0.000000	D	0.84831	0.5559	M	0.75615	2.305	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	D	0.85539	0.1214	10	0.72032	D	0.01	-18.7018	19.773	0.96379	0.0:1.0:0.0:0.0	.	171	O75603	GCM2_HUMAN	K	171	ENSP00000368805:R171K	ENSP00000368805:R171K	R	-	2	0	GCM2	10984180	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.592000	0.82676	2.677000	0.91161	0.655000	0.94253	AGA	GCM2	-	pfam_Tscrpt_reg_GCM_motif,superfamily_Tscrpt_reg_GCM_motif,pfscan_Tscrpt_reg_GCM_motif		0.458	GCM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCM2	HGNC	protein_coding	OTTHUMT00000039844.1	C			10876194	-1	no_errors	ENST00000379491	ensembl	human	known	70_37	missense	SNP	1.000	T
GDA	9615	genome.wustl.edu	37	9	74810440	74810440	+	Missense_Mutation	SNP	C	C	G	rs369384144		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:74810440C>G	ENST00000358399.3	+	2	241	c.148C>G	c.(148-150)Caa>Gaa	p.Q50E	GDA_ENST00000376986.1_Missense_Mutation_p.Q8E|GDA_ENST00000545168.1_5'UTR|GDA_ENST00000376989.3_Missense_Mutation_p.Q25E|GDA_ENST00000477618.1_3'UTR|GDA_ENST00000238018.4_Missense_Mutation_p.Q50E	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	50					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		AGAAGCATCTCAACAGGAAAA	0.348																																																	0													62.0	60.0	61.0					9																	74810440		2203	4300	6503	SO:0001583	missense	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.148C>G	9.37:g.74810440C>G	ENSP00000351170:p.Gln50Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Missense_Mutation	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.Q50E	ENST00000358399.3	37	c.148	CCDS6641.1	9	.	.	.	.	.	.	.	.	.	.	C	9.014	0.983097	0.18889	.	.	ENSG00000119125	ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399	.	.	.	5.22	3.29	0.37713	.	0.383899	0.29355	N	0.012400	T	0.26340	0.0643	N	0.04297	-0.235	0.80722	D	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.21895	-1.0232	9	0.02654	T	1	-8.1572	14.6234	0.68602	0.0:0.5869:0.413:0.0	.	8;50;50	Q5SZC6;Q9Y2T3-3;Q9Y2T3	.;.;GUAD_HUMAN	E	50;25;8;50	.	ENSP00000238018:Q50E	Q	+	1	0	GDA	74000260	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	1.168000	0.31859	1.197000	0.43143	0.585000	0.79938	CAA	GDA	-	tigrfam_Guanine_deaminase		0.348	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	C			74810440	+1	no_errors	ENST00000238018	ensembl	human	known	70_37	missense	SNP	1.000	G
GDF11	10220	genome.wustl.edu	37	12	56137352	56137352	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56137352G>C	ENST00000257868.5	+	1	289	c.252G>C	c.(250-252)ttG>ttC	p.L84F		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	84					camera-type eye morphogenesis (GO:0048593)|cell maturation (GO:0048469)|growth (GO:0040007)|mesoderm development (GO:0007498)|metanephros development (GO:0001656)|negative regulation of cell differentiation (GO:0045596)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|palate development (GO:0060021)|pancreas development (GO:0031016)|skeletal system development (GO:0001501)|spinal cord anterior/posterior patterning (GO:0021512)|ureteric bud development (GO:0001657)	extracellular space (GO:0005615)|protein complex (GO:0043234)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGCAGATCTTGAGCAAACTGC	0.682																																																	0													15.0	18.0	17.0					12																	56137352		2171	4244	6415	SO:0001583	missense	10220			AF100907	CCDS8891.1	12q13.13	2008-08-01							4216	protein-coding gene	gene with protein product		603936				15988002	Standard	NM_005811		Approved	BMP-11	uc001shq.3	O95390		ENST00000257868.5:c.252G>C	12.37:g.56137352G>C	ENSP00000257868:p.Leu84Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UID1|Q9UID2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.L84F	ENST00000257868.5	37	c.252	CCDS8891.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	19.37|19.37	3.813860|3.813860	0.70912|0.70912	.|.	.|.	ENSG00000135414|ENSG00000135414	ENST00000257868|ENST00000546799	T|.	0.80214|.	-1.35|.	2.74|2.74	1.81|1.81	0.25067|0.25067	Transforming growth factor-beta, N-terminal (1);|.	0.105042|.	0.40818|.	U|.	0.001013|.	T|.	0.71256|.	0.3318|.	M|M	0.80616|0.80616	2.505|2.505	0.42075|0.42075	D|D	0.991228|0.991228	D|.	0.89917|.	1.0|.	D|.	0.91635|.	0.999|.	T|.	0.71101|.	-0.4690|.	10|.	0.87932|.	D|.	0|.	-5.6369|-5.6369	9.647|9.647	0.39875|0.39875	0.0:0.2163:0.7837:0.0|0.0:0.2163:0.7837:0.0	.|.	84|.	O95390|.	GDF11_HUMAN|.	F|S	84|57	ENSP00000257868:L84F|.	ENSP00000257868:L84F|.	L|X	+|+	3|2	2|2	GDF11|GDF11	54423619|54423619	0.996000|0.996000	0.38824|0.38824	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	0.246000|0.246000	0.18160|0.18160	0.705000|0.705000	0.31890|0.31890	0.456000|0.456000	0.33151|0.33151	TTG|TGA	GDF11	-	pfam_TGF-b_N		0.682	GDF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDF11	HGNC	protein_coding	OTTHUMT00000407842.3	G			56137352	+1	no_errors	ENST00000257868	ensembl	human	known	70_37	missense	SNP	1.000	C
GIPR	2696	genome.wustl.edu	37	19	46177987	46177987	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:46177987C>G	ENST00000590918.1	+	7	635	c.536C>G	c.(535-537)tCt>tGt	p.S179C	GIPR_ENST00000304207.8_Missense_Mutation_p.S143C|MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000263281.3_Missense_Mutation_p.S179C	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	179					activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTGTTCACGTCTTTCATGCTG	0.592																																																	0													80.0	71.0	74.0					19																	46177987		2203	4300	6503	SO:0001583	missense	2696				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.536C>G	19.37:g.46177987C>G	ENSP00000467494:p.Ser179Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GPCR_2_GIP_rcpt,prints_GPCR_2_secretin-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.S179C	ENST00000590918.1	37	c.536	CCDS12671.1	19	.	.	.	.	.	.	.	.	.	.	C	16.71	3.199507	0.58126	.	.	ENSG00000010310	ENST00000263281;ENST00000304207	T;T	0.54279	0.58;0.58	4.87	4.87	0.63330	GPCR, family 2-like (1);	0.000000	0.50627	D	0.000103	T	0.80003	0.4544	H	0.94808	3.585	0.58432	D	0.999992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	D	0.85497	0.1189	10	0.87932	D	0	.	15.897	0.79341	0.0:1.0:0.0:0.0	.	143;179;179	B7WP14;P48546;P48546-2	.;GIPR_HUMAN;.	C	179;143	ENSP00000263281:S179C;ENSP00000305321:S143C	ENSP00000263281:S179C	S	+	2	0	GIPR	50869827	1.000000	0.71417	0.319000	0.25293	0.109000	0.19521	6.854000	0.75440	2.687000	0.91594	0.655000	0.94253	TCT	GIPR	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.592	GIPR-001	KNOWN	basic|CCDS	protein_coding	GIPR	HGNC	protein_coding	OTTHUMT00000459640.1	C			46177987	+1	no_errors	ENST00000590918	ensembl	human	known	70_37	missense	SNP	1.000	G
GJA10	84694	genome.wustl.edu	37	6	90605031	90605031	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:90605031C>G	ENST00000369352.1	+	1	844	c.844C>G	c.(844-846)Cca>Gca	p.P282A	Y_RNA_ENST00000517082.1_RNA	NM_032602.1	NP_115991.1	P57773	CXA9_HUMAN	gap junction protein, alpha 10, 62kDa	0					cell communication (GO:0007154)	connexon complex (GO:0005922)|integral component of membrane (GO:0016021)				breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		AAGAATCTCTCCACTTCAAGC	0.443																																																	0													83.0	76.0	78.0					6																	90605031		2203	4300	6503	SO:0001583	missense	84694			AF296766	CCDS5025.1	6q15-q16	2008-02-05			ENSG00000135355	ENSG00000135355		"""Ion channels / Gap junction proteins (connexins)"""	16995	protein-coding gene	gene with protein product	"""connexin 62"""	611924					Standard	NM_032602		Approved	CX62	uc011eaa.2	Q969M2	OTTHUMG00000015210	ENST00000369352.1:c.844C>G	6.37:g.90605031C>G	ENSP00000358358:p.Pro282Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R722|B3KVQ2|Q5TA63|Q96KG0	Missense_Mutation	SNP	pfam_Connexin_N,pfam_Connexin_CCC,smart_Connexin_N,prints_Connexin	p.P282A	ENST00000369352.1	37	c.844	CCDS5025.1	6	.	.	.	.	.	.	.	.	.	.	C	0.005	-2.211062	0.00289	.	.	ENSG00000135355	ENST00000369352	D	0.97256	-4.31	4.93	0.832	0.18867	.	1.387860	0.04509	N	0.382501	T	0.80132	0.4567	N	0.08118	0	0.09310	N	1	B	0.20261	0.043	B	0.14023	0.01	T	0.79750	-0.1672	10	0.10111	T	0.7	.	3.5491	0.07839	0.0:0.3707:0.1952:0.4341	.	282	Q969M2	CXA10_HUMAN	A	282	ENSP00000358358:P282A	ENSP00000358358:P282A	P	+	1	0	GJA10	90661752	0.000000	0.05858	0.180000	0.23079	0.514000	0.34195	0.007000	0.13174	0.267000	0.21916	0.563000	0.77884	CCA	GJA10	-	NULL		0.443	GJA10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GJA10	HGNC	protein_coding	OTTHUMT00000041505.1	C	NM_032602		90605031	+1	no_errors	ENST00000369352	ensembl	human	known	70_37	missense	SNP	0.035	G
GLRB	2743	genome.wustl.edu	37	4	158073953	158073953	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:158073953G>A	ENST00000264428.4	+	9	1258	c.988G>A	c.(988-990)Gat>Aat	p.D330N	GLRB_ENST00000541722.1_Intron|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.D330N	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	330					acrosome reaction (GO:0007340)|adult walking behavior (GO:0007628)|chloride transmembrane transport (GO:1902476)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|righting reflex (GO:0060013)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|visual perception (GO:0007601)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	extracellular-glycine-gated chloride channel activity (GO:0016934)|extracellular-glycine-gated ion channel activity (GO:0016933)|glycine binding (GO:0016594)			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Enflurane(DB00228)|Glycine(DB00145)|Lindane(DB00431)	GAAGGCTCTTGATGTTTGGCT	0.488																																																	0													187.0	175.0	179.0					4																	158073953		2203	4300	6503	SO:0001583	missense	2743			U33267	CCDS3796.1, CCDS54813.1	4q31.3	2008-02-05			ENSG00000109738	ENSG00000109738			4329	protein-coding gene	gene with protein product		138492				9676428, 8717357	Standard	NM_000824		Approved		uc003ipj.2	P48167	OTTHUMG00000161954	ENST00000264428.4:c.988G>A	4.37:g.158073953G>A	ENSP00000264428:p.Asp330Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3K2|D3DP23|F5GWE1	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Glycine_rcpt_B,prints_GABAA_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.D330N	ENST00000264428.4	37	c.988	CCDS3796.1	4	.	.	.	.	.	.	.	.	.	.	G	22.8	4.337078	0.81801	.	.	ENSG00000109738	ENST00000264428;ENST00000509282	D;D	0.88124	-2.34;-2.34	5.61	5.61	0.85477	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.047671	0.85682	D	0.000000	D	0.94594	0.8258	M	0.87547	2.89	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.94983	0.8127	10	0.87932	D	0	.	19.6332	0.95719	0.0:0.0:1.0:0.0	.	330	P48167	GLRB_HUMAN	N	330	ENSP00000264428:D330N;ENSP00000427186:D330N	ENSP00000264428:D330N	D	+	1	0	GLRB	158293403	1.000000	0.71417	0.482000	0.27366	0.333000	0.28666	9.857000	0.99534	2.642000	0.89623	0.650000	0.86243	GAT	GLRB	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel		0.488	GLRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLRB	HGNC	protein_coding	OTTHUMT00000366507.1	G	NM_000824		158073953	+1	no_errors	ENST00000264428	ensembl	human	known	70_37	missense	SNP	1.000	A
COLGALT1	79709	genome.wustl.edu	37	19	17678321	17678321	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:17678321C>G	ENST00000252599.4	+	4	716	c.596C>G	c.(595-597)tCc>tGc	p.S199C	COLGALT1_ENST00000601354.1_3'UTR	NM_024656.2	NP_078932.2	Q8NBJ5	GT251_HUMAN	collagen beta(1-O)galactosyltransferase 1	199					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)|membrane (GO:0016020)	procollagen galactosyltransferase activity (GO:0050211)										GCTGCGTACTCCAACTTCTGG	0.597																																																	0													77.0	61.0	66.0					19																	17678321		2203	4300	6503	SO:0001583	missense	79709			AK075541	CCDS12363.1	19p13.11	2013-02-27	2013-02-27	2013-02-27	ENSG00000130309	ENSG00000130309			26182	protein-coding gene	gene with protein product			"""glycosyltransferase 25 domain containing 1"""	GLT25D1		19075007	Standard	NM_024656		Approved	FLJ22329	uc002nhc.1	Q8NBJ5		ENST00000252599.4:c.596C>G	19.37:g.17678321C>G	ENSP00000252599:p.Ser199Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC64	Missense_Mutation	SNP	pfam_Glyco_trans_25	p.S199C	ENST00000252599.4	37	c.596	CCDS12363.1	19	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461883	0.84425	.	.	ENSG00000130309	ENST00000252599	T	0.25749	1.78	4.56	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.60856	0.2301	M	0.93898	3.47	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.73183	-0.4063	10	0.87932	D	0	-11.5651	14.8241	0.70097	0.0:1.0:0.0:0.0	.	199	Q8NBJ5	GT251_HUMAN	C	199	ENSP00000252599:S199C	ENSP00000252599:S199C	S	+	2	0	GLT25D1	17539321	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.477000	0.81069	2.106000	0.64143	0.491000	0.48974	TCC	GLT25D1	-	NULL		0.597	COLGALT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D1	HGNC	protein_coding	OTTHUMT00000464216.1	C	NM_024656		17678321	+1	no_errors	ENST00000252599	ensembl	human	known	70_37	missense	SNP	1.000	G
COLGALT2	23127	genome.wustl.edu	37	1	183938564	183938564	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:183938564C>T	ENST00000361927.4	-	5	1042	c.671G>A	c.(670-672)tGg>tAg	p.W224*	COLGALT2_ENST00000546159.1_Nonsense_Mutation_p.W224*	NM_015101.2	NP_055916.1	Q8IYK4	GT252_HUMAN	collagen beta(1-O)galactosyltransferase 2	224					extracellular matrix organization (GO:0030198)|lipopolysaccharide biosynthetic process (GO:0009103)	endoplasmic reticulum lumen (GO:0005788)	procollagen galactosyltransferase activity (GO:0050211)										TGTCCTCTTCCATTCTCGAAT	0.507																																																	0													109.0	108.0	109.0					1																	183938564		2203	4300	6503	SO:0001587	stop_gained	23127			AF288389	CCDS1360.1	1q25	2013-02-27	2013-02-27	2013-02-27	ENSG00000198756	ENSG00000198756			16790	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 17"", ""glycosyltransferase 25 domain containing 2"""	C1orf17, GLT25D2		19075007	Standard	XM_005245008		Approved	KIAA0584	uc001gqr.3	Q8IYK4	OTTHUMG00000035460	ENST00000361927.4:c.671G>A	1.37:g.183938564C>T	ENSP00000354960:p.Trp224*	Somatic		WXS	Illumina HiSeq	Phase_IV	O60327|Q9BZR0	Nonsense_Mutation	SNP	pfam_Glyco_trans_25	p.W224*	ENST00000361927.4	37	c.671	CCDS1360.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.660216	0.97743	.	.	ENSG00000198756	ENST00000546159;ENST00000361927	.	.	.	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-22.7284	19.2702	0.94006	0.0:1.0:0.0:0.0	.	.	.	.	X	224	.	ENSP00000354960:W224X	W	-	2	0	GLT25D2	182205187	1.000000	0.71417	0.998000	0.56505	0.260000	0.26232	4.483000	0.60264	2.557000	0.86248	0.591000	0.81541	TGG	GLT25D2	-	NULL		0.507	COLGALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT25D2	HGNC	protein_coding	OTTHUMT00000086128.1	C	NM_015101		183938564	-1	no_errors	ENST00000361927	ensembl	human	known	70_37	nonsense	SNP	1.000	T
GLT8D2	83468	genome.wustl.edu	37	12	104391268	104391268	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:104391268C>T	ENST00000360814.4	-	7	853	c.448G>A	c.(448-450)Gag>Aag	p.E150K	GLT8D2_ENST00000546436.1_Missense_Mutation_p.E150K|GLT8D2_ENST00000548660.1_Missense_Mutation_p.E150K	NM_031302.3	NP_112592.1	Q9H1C3	GL8D2_HUMAN	glycosyltransferase 8 domain containing 2	150						integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ATGACTTTCTCGTGTTGGTGG	0.403																																																	0													175.0	174.0	174.0					12																	104391268		2203	4300	6503	SO:0001583	missense	83468			BC022343	CCDS9096.1	12q23.3	2013-02-22			ENSG00000120820	ENSG00000120820		"""Glycosyltransferase family 8 domain containing"""	24890	protein-coding gene	gene with protein product							Standard	NM_031302		Approved	FLJ31494	uc001tkh.1	Q9H1C3	OTTHUMG00000170120	ENST00000360814.4:c.448G>A	12.37:g.104391268C>T	ENSP00000354053:p.Glu150Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96KA2	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E150K	ENST00000360814.4	37	c.448	CCDS9096.1	12	.	.	.	.	.	.	.	.	.	.	C	12.01	1.808935	0.31961	.	.	ENSG00000120820	ENST00000360814;ENST00000546436;ENST00000548660	T;T;T	0.24538	1.85;1.85;1.85	5.39	5.39	0.77823	.	0.156965	0.56097	D	0.000028	T	0.12092	0.0294	N	0.04132	-0.27	0.80722	D	1	B	0.30104	0.268	B	0.21151	0.033	T	0.14144	-1.0483	10	0.07990	T	0.79	.	19.17	0.93574	0.0:1.0:0.0:0.0	.	150	Q9H1C3	GL8D2_HUMAN	K	150	ENSP00000354053:E150K;ENSP00000449750:E150K;ENSP00000447450:E150K	ENSP00000354053:E150K	E	-	1	0	GLT8D2	102915398	1.000000	0.71417	0.985000	0.45067	0.928000	0.56348	4.860000	0.62961	2.521000	0.84997	0.557000	0.71058	GAG	GLT8D2	-	pfam_Glyco_trans_8		0.403	GLT8D2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D2	HGNC	protein_coding	OTTHUMT00000407371.1	C	NM_031302		104391268	-1	no_errors	ENST00000360814	ensembl	human	known	70_37	missense	SNP	0.996	T
GLUD2	2747	genome.wustl.edu	37	X	120182171	120182171	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:120182171G>A	ENST00000328078.1	+	1	710	c.633G>A	c.(631-633)aaG>aaA	p.K211K		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	211					glutamate biosynthetic process (GO:0006537)|glutamate catabolic process (GO:0006538)|glutamate metabolic process (GO:0006536)|oxidation-reduction process (GO:0055114)	mitochondrion (GO:0005739)	ADP binding (GO:0043531)|glutamate dehydrogenase (NAD+) activity (GO:0004352)|glutamate dehydrogenase [NAD(P)+] activity (GO:0004353)|GTP binding (GO:0005525)|leucine binding (GO:0070728)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38						AGCTAGCAAAGAAGGGCTTTA	0.483																																																	0													149.0	115.0	126.0					X																	120182171		2203	4300	6503	SO:0001819	synonymous_variant	2747			U08997	CCDS14603.1	Xq24-q25	2008-02-05	2003-02-24	2003-02-28	ENSG00000182890	ENSG00000182890			4336	protein-coding gene	gene with protein product		300144	"""glutamate dehydrogenase pseudogene 1"""	GLUDP1		8207021, 9109504	Standard	NM_012084		Approved		uc004eto.3	P49448	OTTHUMG00000022320	ENST00000328078.1:c.633G>A	X.37:g.120182171G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8G0|Q9UDQ4	Silent	SNP	pfam_Glu/Leu/Phe/Val_DH_C,pfam_Glu/Leu/Phe/Val_DH_dimer_dom,smart_Glu/Leu/Phe/Val_DH_C,prints_Glu/Leu/Phe/Val_DH	p.K211	ENST00000328078.1	37	c.633	CCDS14603.1	X																																																																																			GLUD2	-	pfam_Glu/Leu/Phe/Val_DH_dimer_dom		0.483	GLUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLUD2	HGNC	protein_coding	OTTHUMT00000058133.1	G	NM_012084		120182171	+1	no_errors	ENST00000328078	ensembl	human	known	70_37	silent	SNP	1.000	A
GOLGA2P5	55592	genome.wustl.edu	37	12	100560379	100560379	+	RNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:100560379C>T	ENST00000397112.4	-	0	599					NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						TGGTCAGCCTCTGCTTGTAGC	0.602																																																	0																																												55592																															12.37:g.100560379C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NSV2	RNA	SNP	-	NULL	ENST00000397112.4	37	NULL		12																																																																																			GOLGA2B	-	-		0.602	GOLGA2B-004	KNOWN	basic	processed_transcript	GOLGA2P5	Clone_based_vega_gene	pseudogene	OTTHUMT00000396439.2	C			100560379	-1	no_errors	ENST00000421840	ensembl	human	known	70_37	rna	SNP	0.033	T
GOLGA6L1	283767	genome.wustl.edu	37	15	22743378	22743378	+	Missense_Mutation	SNP	G	G	A	rs200082809		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:22743378G>A	ENST00000560659.2	+	8	1613	c.1613G>A	c.(1612-1614)cGa>cAa	p.R538Q	GOLGA6L1_ENST00000316397.3_Missense_Mutation_p.R588Q			Q8N7Z2	GG6L1_HUMAN	golgin A6 family-like 1	562										NS(1)|breast(2)|endometrium(5)|large_intestine(1)|lung(1)|skin(1)	11						gagaagatacgagagcaggag	0.527																																																	0													1.0	1.0	1.0					15																	22743378		21	25	46	SO:0001583	missense	283767			AK097517	CCDS73699.1	15q11.2	2012-10-05	2010-02-12		ENSG00000197414	ENSG00000277865			37444	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6-like 1"""				Standard	NM_001001413		Approved		uc010tzx.1	Q8N7Z2	OTTHUMG00000171883	ENST00000560659.2:c.1613G>A	15.37:g.22743378G>A	ENSP00000452626:p.Arg538Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_Ribosomal_L7/12_C/ClpS-like,prints_Tropomyosin	p.R588Q	ENST00000560659.2	37	c.1763		15	.	.	.	.	.	.	.	.	.	.	.	2.373	-0.343957	0.05208	.	.	ENSG00000197414	ENST00000316397;ENST00000355145	T	0.10860	2.83	.	.	.	.	.	.	.	.	T	0.05640	0.0148	N	0.20986	0.625	0.09310	N	0.999999	.	.	.	.	.	.	T	0.44205	-0.9343	5	0.08381	T	0.77	.	.	.	.	.	.	.	.	Q	588;548	ENSP00000320207:R588Q	ENSP00000320207:R588Q	R	+	2	0	GOLGA6L1	20294742	0.001000	0.12720	0.008000	0.14137	0.008000	0.06430	-0.710000	0.05024	0.149000	0.19098	0.152000	0.16155	CGA	GOLGA6L1	-	NULL		0.527	GOLGA6L1-002	KNOWN	basic|appris_candidate	protein_coding	GOLGA6L1	HGNC	protein_coding	OTTHUMT00000415616.2	G	NM_001001413		22743378	+1	no_errors	ENST00000316397	ensembl	human	known	70_37	missense	SNP	0.415	A
GOLGA6L7P	728310	genome.wustl.edu	37	15	29090373	29090373	+	RNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:29090373C>T	ENST00000569815.1	-	0	889					NR_047567.1				golgin A6 family-like 7, pseudogene																		tctgtaccttCATGGTACAAG	0.507																																																	0																																												728310			AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29090373C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000569815.1	37	NULL		15																																																																																			GOLGA6L7P	-	-		0.507	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	GOLGA6L7P	HGNC	pseudogene	OTTHUMT00000431796.1	C	XR_078490		29090373	-1	no_errors	ENST00000569815	ensembl	human	putative	70_37	rna	SNP	0.002	T
GOLGA8DP	100132979	genome.wustl.edu	37	15	22709126	22709126	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:22709126G>C	ENST00000314246.8	-	0	1270				RN7SL545P_ENST00000495815.2_RNA			Q0D2H9	GOG8D_HUMAN	golgin A8 family, member D, pseudogene							Golgi apparatus (GO:0005794)											CTTATGCGCTGATTGTACTCC	0.617																																																	0																																												100132979					15q11.2	2014-04-10	2011-04-15	2010-02-12	ENSG00000185182	ENSG00000185182			32376	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 8D"""	GOLGA8D		12477932	Standard	NR_027407		Approved		uc010axw.2	Q0D2H9	OTTHUMG00000171882		15.37:g.22709126G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000314246.8	37	NULL		15	.	.	.	.	.	.	.	.	.	.	G	2.001	-0.429457	0.04701	.	.	ENSG00000185182	ENST00000341390;ENST00000314246;ENST00000317692	.	.	.	0.887	-0.221	0.13126	.	.	.	.	.	T	0.20861	0.0502	.	.	.	0.21740	N	0.999564	P	0.42871	0.792	B	0.40864	0.342	T	0.17349	-1.0372	6	0.25106	T	0.35	.	2.4369	0.04485	0.0:0.4063:0.343:0.2508	.	125	F8WBT8	.	E	125;125;343	.	ENSP00000327024:Q125E	Q	-	1	0	AC116165.1	20260490	0.028000	0.19301	0.001000	0.08648	0.004000	0.04260	0.811000	0.27198	-0.072000	0.12864	0.162000	0.16502	CAG	GOLGA8DP	-	-		0.617	GOLGA8DP-002	KNOWN	basic	processed_transcript	GOLGA8DP	HGNC	pseudogene	OTTHUMT00000415613.1	G	NR_027407		22709126	-1	no_errors	ENST00000314246	ensembl	human	known	70_37	rna	SNP	0.301	C
GOLGA8A	23015	genome.wustl.edu	37	15	34679062	34679062	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:34679062C>T	ENST00000432566.2	-	2	138	c.139G>A	c.(139-141)Gac>Aac	p.D47N	GOLGA8A_ENST00000543376.1_5'UTR|GOLGA8A_ENST00000359187.4_Intron|GOLGA8A_ENST00000360553.3_Intron			A7E2F4	GOG8A_HUMAN	golgin A8 family, member A	45						Golgi apparatus (GO:0005794)|membrane (GO:0016020)							all_lung(180;2.78e-08)		all cancers(64;8.27e-19)|GBM - Glioblastoma multiforme(113;6.98e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CCTGCGGGGTCACTGCACCTC	0.617																																																	0																																										SO:0001583	missense	23015			BX648160	CCDS10038.1	15q14	2011-10-25	2010-02-12		ENSG00000175265	ENSG00000175265			31972	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 8A"""			10660574, 10677249	Standard	NM_181077		Approved	GM88, GOLGIN-67	uc001zii.3	A7E2F4	OTTHUMG00000129447	ENST00000432566.2:c.139G>A	15.37:g.34679062C>T	ENSP00000402791:p.Asp47Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MCY9|B7ZMK5|O94937|Q52M46|Q68DK6|Q9NZG8|Q9NZW0|Q9NZW3	Missense_Mutation	SNP	NULL	p.D47N	ENST00000432566.2	37	c.139		15	.	.	.	.	.	.	.	.	.	.	c	0.465	-0.887333	0.02511	.	.	ENSG00000175265	ENST00000432566	T	0.08807	3.05	0.379	0.379	0.16213	.	.	.	.	.	T	0.06962	0.0177	.	.	.	0.18873	N	0.999989	.	.	.	.	.	.	T	0.42982	-0.9419	4	.	.	.	.	.	.	.	.	.	.	.	N	47	ENSP00000402791:D47N	.	D	-	1	0	GOLGA8A	32466354	0.048000	0.20356	0.075000	0.20258	0.045000	0.14185	-0.003000	0.12901	0.437000	0.26423	0.184000	0.17185	GAC	GOLGA8A	-	NULL		0.617	GOLGA8A-202	KNOWN	basic	protein_coding	GOLGA8A	HGNC	protein_coding		C	NM_181076		34679062	-1	no_errors	ENST00000432566	ensembl	human	known	70_37	missense	SNP	0.103	T
GOLGB1	2804	genome.wustl.edu	37	3	121410101	121410101	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:121410101C>T	ENST00000340645.5	-	14	8220	c.8095G>A	c.(8095-8097)Gaa>Aaa	p.E2699K	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E2704K	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	2699					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TCTGCTGTTTCAGTTTCATTT	0.393																																																	0													248.0	254.0	252.0					3																	121410101		2203	4300	6503	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.8095G>A	3.37:g.121410101C>T	ENSP00000341848:p.Glu2699Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E2699K	ENST00000340645.5	37	c.8095	CCDS3004.1	3	.	.	.	.	.	.	.	.	.	.	C	16.36	3.101027	0.56183	.	.	ENSG00000173230	ENST00000340645;ENST00000393667	T;T	0.26518	1.73;1.73	5.46	5.46	0.80206	.	0.090582	0.47852	D	0.000201	T	0.51686	0.1689	M	0.73598	2.24	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.993;0.993;0.999	T	0.45673	-0.9245	10	0.36615	T	0.2	.	16.7937	0.85596	0.0:1.0:0.0:0.0	.	2704;2704;2699	E7EP74;B2ZZ91;Q14789	.;.;GOGB1_HUMAN	K	2699;2704	ENSP00000341848:E2699K;ENSP00000377275:E2704K	ENSP00000341848:E2699K	E	-	1	0	GOLGB1	122892791	1.000000	0.71417	0.953000	0.39169	0.989000	0.77384	7.324000	0.79115	2.549000	0.85964	0.655000	0.94253	GAA	GOLGB1	-	NULL		0.393	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	C	NM_004487		121410101	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.999	T
RP11-156P1.2	0	genome.wustl.edu	37	17	45102045	45102045	+	Splice_Site	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:45102045G>A	ENST00000571841.1	+	8	736		c.e8-1		LRRC37A17P_ENST00000570478.1_RNA|GOSR2_ENST00000439730.2_Splice_Site|RP11-156P1.3_ENST00000575173.1_RNA																							TCATTTTCCAGAATTCTCAGA	0.358																																																	0																																										SO:0001630	splice_region_variant	9570																														ENST00000571841.1:c.677-1G>A	17.37:g.45102045G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e8-1	ENST00000571841.1	37	c.677-1		17	.	.	.	.	.	.	.	.	.	.	.	4.492	0.091148	0.08632	.	.	ENSG00000108433	ENST00000439730	.	.	.	2.71	2.71	0.32032	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	9.1731	0.37096	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	GOSR2	42457044	1.000000	0.71417	1.000000	0.80357	0.071000	0.16799	3.877000	0.56123	1.215000	0.43411	0.184000	0.17185	.	GOSR2	-	-		0.358	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	GOSR2	HGNC	protein_coding	OTTHUMT00000440447.1	G		Intron	45102045	+1	no_errors	ENST00000439730	ensembl	human	known	70_37	splice_site	SNP	1.000	A
GP2	2813	genome.wustl.edu	37	16	20334257	20334257	+	Missense_Mutation	SNP	C	C	T	rs530327819		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:20334257C>T	ENST00000381362.4	-	5	665	c.589G>A	c.(589-591)Gag>Aag	p.E197K	GP2_ENST00000573897.1_5'UTR|GP2_ENST00000341642.5_Missense_Mutation_p.E47K|GP2_ENST00000302555.5_Missense_Mutation_p.E194K|GP2_ENST00000381360.5_Missense_Mutation_p.E50K	NM_001007240.1|NM_001502.2	NP_001007241.2|NP_001493.2	P55259	GP2_HUMAN	glycoprotein 2 (zymogen granule membrane)	197	EGF-like.				antigen transcytosis by M cells in mucosal-associated lymphoid tissue (GO:0002412)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACTCCTCCTCGGGGCGGCAG	0.577													C|||	1	0.000199681	0.0	0.0	5008	,	,		19699	0.001		0.0	False		,,,				2504	0.0																0													82.0	63.0	69.0					16																	20334257		2203	4300	6503	SO:0001583	missense	2813			U36221	CCDS10582.2, CCDS42128.1, CCDS45432.1, CCDS45433.1	16p12.3	2008-02-05			ENSG00000169347	ENSG00000169347			4441	protein-coding gene	gene with protein product		602977				9605860	Standard	XM_005255259		Approved		uc002dgw.3	P55259	OTTHUMG00000131489	ENST00000381362.4:c.589G>A	16.37:g.20334257C>T	ENSP00000370767:p.Glu197Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFM9|A6NJA8|Q13338|Q9UIF1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.E197K	ENST00000381362.4	37	c.589	CCDS42128.1	16	.	.	.	.	.	.	.	.	.	.	C	18.68	3.674967	0.67928	.	.	ENSG00000169347	ENST00000302555;ENST00000381362;ENST00000381360;ENST00000341642;ENST00000537520	D;D;D;D	0.99405	-5.84;-5.84;-5.84;-5.84	4.88	-0.867	0.10655	.	.	.	.	.	D	0.98245	0.9419	L	0.58101	1.795	0.09310	N	1	P;D;D;P	0.57899	0.886;0.981;0.972;0.906	P;P;P;B	0.48488	0.491;0.579;0.469;0.368	D	0.96255	0.9186	9	0.33940	T	0.23	-8.3747	5.307	0.15809	0.0:0.4682:0.3088:0.223	.	47;175;194;197	P55259-4;B7Z1G2;P55259-3;P55259	.;.;.;GP2_HUMAN	K	194;197;50;47;175	ENSP00000304044:E194K;ENSP00000370767:E197K;ENSP00000370765:E50K;ENSP00000343861:E47K	ENSP00000304044:E194K	E	-	1	0	GP2	20241758	0.006000	0.16342	0.034000	0.17996	0.394000	0.30568	0.693000	0.25497	0.016000	0.14998	-0.140000	0.14226	GAG	GP2	-	NULL		0.577	GP2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GP2	HGNC	protein_coding	OTTHUMT00000436920.1	C	NM_016295		20334257	-1	no_errors	ENST00000381362	ensembl	human	known	70_37	missense	SNP	0.018	T
GPAM	57678	genome.wustl.edu	37	10	113915685	113915685	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:113915685C>T	ENST00000348367.4	-	20	2445	c.2248G>A	c.(2248-2250)Gag>Aag	p.E750K	GPAM_ENST00000423155.1_Missense_Mutation_p.E750K|GPAM_ENST00000369425.1_3'UTR			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	750					acyl-CoA metabolic process (GO:0006637)|CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|defense response to virus (GO:0051607)|fatty acid homeostasis (GO:0055089)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|interleukin-2 secretion (GO:0070970)|negative regulation of activation-induced cell death of T cells (GO:0070236)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of multicellular organism growth (GO:0040018)|regulation of cytokine secretion (GO:0050707)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|plasma membrane (GO:0005886)	glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGCAGATACTCAGGTTCTGGA	0.393																																					Ovarian(161;1017 2606 18293 52943)												0													98.0	90.0	93.0					10																	113915685		2203	4300	6503	SO:0001583	missense	57678			AL832464	CCDS7570.1	10q25.3	2009-07-15			ENSG00000119927	ENSG00000119927			24865	protein-coding gene	gene with protein product	"""glycerol-3-phosphate acyltransferase 1, mitochondrial"""	602395				10997877, 8369314	Standard	NM_020918		Approved	KIAA1560, MGC26846, GPAT1	uc001kzp.3	Q9HCL2	OTTHUMG00000019055	ENST00000348367.4:c.2248G>A	10.37:g.113915685C>T	ENSP00000265276:p.Glu750Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VW51|Q86TA3	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.E750K	ENST00000348367.4	37	c.2248	CCDS7570.1	10	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683678	0.68157	.	.	ENSG00000119927	ENST00000348367;ENST00000423155	T;T	0.70869	-0.52;-0.52	5.08	5.08	0.68730	.	0.062472	0.64402	D	0.000005	T	0.66218	0.2767	L	0.59436	1.845	0.58432	D	0.999993	P	0.46987	0.888	B	0.40165	0.321	T	0.65183	-0.6230	10	0.18276	T	0.48	-19.7715	17.0217	0.86435	0.0:1.0:0.0:0.0	.	750	Q9HCL2	GPAT1_HUMAN	K	750	ENSP00000265276:E750K;ENSP00000409242:E750K	ENSP00000265276:E750K	E	-	1	0	GPAM	113905675	1.000000	0.71417	0.784000	0.31847	0.841000	0.47740	6.949000	0.75971	2.507000	0.84556	0.655000	0.94253	GAG	GPAM	-	NULL		0.393	GPAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPAM	HGNC	protein_coding	OTTHUMT00000050377.1	C	NM_020918		113915685	-1	no_errors	ENST00000348367	ensembl	human	known	70_37	missense	SNP	0.996	T
GPATCH8	23131	genome.wustl.edu	37	17	42477649	42477649	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:42477649G>C	ENST00000591680.1	-	8	1826	c.1796C>G	c.(1795-1797)tCa>tGa	p.S599*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.S521*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	599							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATGGTCCTTTGAGGAGCTTCC	0.423											OREG0024461	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													42.0	45.0	44.0					17																	42477649		2201	4297	6498	SO:0001587	stop_gained	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.1796C>G	17.37:g.42477649G>C	ENSP00000467556:p.Ser599*	Somatic	909	WXS	Illumina HiSeq	Phase_IV	B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.S599*	ENST00000591680.1	37	c.1796	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.422179	0.83559	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.11	4.12	0.48240	.	0.517985	0.18785	N	0.131208	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.28530	T	0.3	-9.7965	10.8154	0.46573	0.0762:0.1403:0.7835:0.0	.	.	.	.	X	599;521	.	ENSP00000335486:S599X	S	-	2	0	GPATCH8	39833175	1.000000	0.71417	0.933000	0.37362	0.967000	0.64934	3.763000	0.55257	2.669000	0.90835	0.491000	0.48974	TCA	GPATCH8	-	NULL		0.423	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42477649	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	nonsense	SNP	0.110	C
GPATCH8	23131	genome.wustl.edu	37	17	42478741	42478741	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:42478741G>C	ENST00000591680.1	-	8	734	c.704C>G	c.(703-705)tCa>tGa	p.S235*	GPATCH8_ENST00000434000.1_Nonsense_Mutation_p.S157*	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	235							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		ATTTGTAGCTGATTCATCTTT	0.443																																																	0													132.0	134.0	133.0					17																	42478741		2203	4300	6503	SO:0001587	stop_gained	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.704C>G	17.37:g.42478741G>C	ENSP00000467556:p.Ser235*	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGP9|O60300|Q8TB99	Nonsense_Mutation	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.S235*	ENST00000591680.1	37	c.704	CCDS32666.1	17	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871048	0.72065	.	.	ENSG00000186566	ENST00000335500;ENST00000434000	.	.	.	5.65	5.65	0.86999	.	0.173446	0.36972	N	0.002305	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	-9.3	12.9944	0.58638	0.0739:0.0:0.9261:0.0	.	.	.	.	X	235;157	.	ENSP00000335486:S235X	S	-	2	0	GPATCH8	39834267	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.578000	0.67450	2.654000	0.90174	0.557000	0.71058	TCA	GPATCH8	-	NULL		0.443	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42478741	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	nonsense	SNP	0.936	C
GPR111	222611	genome.wustl.edu	37	6	47645599	47645599	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:47645599G>A	ENST00000296862.1	+	3	297	c.297G>A	c.(295-297)gaG>gaA	p.E99E	GPR111_ENST00000507065.1_Silent_p.E31E|GPR111_ENST00000398742.2_Silent_p.E31E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	99					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAAGCAAGGAGAAGGTGCCTG	0.448																																																	0													110.0	109.0	109.0					6																	47645599		1933	4122	6055	SO:0001819	synonymous_variant	222611			AB065684		6p12.3	2014-08-08			ENSG00000164393	ENSG00000164393		"""-"", ""GPCR / Class B : Orphans"""	18991	protein-coding gene	gene with protein product						12435584	Standard	NM_153839		Approved	hGPCR35, PGR20	uc003oyy.3	Q8IZF7	OTTHUMG00000046168	ENST00000296862.1:c.297G>A	6.37:g.47645599G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PNZ1|Q86SL6|Q8NGU5|Q8TDT5	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.E99	ENST00000296862.1	37	c.297		6																																																																																			GPR111	-	NULL		0.448	GPR111-001	KNOWN	basic	protein_coding	GPR111	HGNC	protein_coding	OTTHUMT00000106423.2	G	NM_153839		47645599	+1	no_errors	ENST00000296862	ensembl	human	known	70_37	silent	SNP	0.913	A
GPR112	139378	genome.wustl.edu	37	X	135488008	135488008	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:135488008G>A	ENST00000394143.1	+	23	9103	c.8812G>A	c.(8812-8814)Gac>Aac	p.D2938N	GPR112_ENST00000412101.1_Missense_Mutation_p.D2733N|GPR112_ENST00000370652.1_Missense_Mutation_p.D2938N|GPR112_ENST00000287534.4_Missense_Mutation_p.D2691N|GPR112_ENST00000394141.1_Missense_Mutation_p.D2733N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2938					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GATCCTGCATGACCTCAAAGG	0.438																																																	0													161.0	139.0	147.0					X																	135488008		2203	4300	6503	SO:0001583	missense	139378			AY140954	CCDS35409.1	Xq26.3	2014-08-08			ENSG00000156920	ENSG00000156920		"""-"", ""GPCR / Class B : Orphans"""	18992	protein-coding gene	gene with protein product						12435584	Standard	XM_005262367		Approved	RP1-299I16, PGR17	uc004ezu.1	Q8IZF6	OTTHUMG00000022508	ENST00000394143.1:c.8812G>A	X.37:g.135488008G>A	ENSP00000377699:p.Asp2938Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2J1|A2A2J2|Q5EGP2|Q86SM6	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.D2938N	ENST00000394143.1	37	c.8812	CCDS35409.1	X	.	.	.	.	.	.	.	.	.	.	G	19.62	3.861910	0.71949	.	.	ENSG00000156920	ENST00000394143;ENST00000370652;ENST00000412101;ENST00000287534;ENST00000394141	T;T;T;T;T	0.43688	0.94;0.94;0.94;0.94;0.94	4.71	4.71	0.59529	GPCR, family 2-like (1);	.	.	.	.	T	0.42268	0.1195	N	0.20685	0.6	0.36529	D	0.870633	D;P	0.55385	0.971;0.544	P;P	0.61477	0.889;0.676	T	0.40175	-0.9577	9	0.21014	T	0.42	.	11.3312	0.49477	0.0922:0.0:0.9078:0.0	.	2733;2938	Q8IZF6-3;Q8IZF6	.;GP112_HUMAN	N	2938;2938;2733;2691;2733	ENSP00000377699:D2938N;ENSP00000359686:D2938N;ENSP00000416526:D2733N;ENSP00000287534:D2691N;ENSP00000377697:D2733N	ENSP00000287534:D2691N	D	+	1	0	GPR112	135315674	1.000000	0.71417	0.707000	0.30419	0.904000	0.53231	5.366000	0.66122	2.061000	0.61500	0.600000	0.82982	GAC	GPR112	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.438	GPR112-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPR112	HGNC	protein_coding	OTTHUMT00000286639.1	G			135488008	+1	no_errors	ENST00000370652	ensembl	human	known	70_37	missense	SNP	0.999	A
GPR133	283383	genome.wustl.edu	37	12	131476909	131476909	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:131476909C>G	ENST00000261654.5	+	8	1497	c.938C>G	c.(937-939)tCg>tGg	p.S313W	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.S345W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	313					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AAGTCCCTCTCGGAGCAGACA	0.493																																																	0													125.0	121.0	122.0					12																	131476909		2203	4300	6503	SO:0001583	missense	283383			AY278561	CCDS9272.1	12q24.33	2014-08-08			ENSG00000111452	ENSG00000111452		"""-"", ""GPCR / Class B : Orphans"""	19893	protein-coding gene	gene with protein product		613639					Standard	NM_198827		Approved	DKFZp434B1272, PGR25	uc001uit.4	Q6QNK2	OTTHUMG00000168339	ENST00000261654.5:c.938C>G	12.37:g.131476909C>G	ENSP00000261654:p.Ser313Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2CKK9|B7ZLF7|Q2M1L3|Q6ZMQ1|Q7Z7M2|Q86SM4	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like	p.S313W	ENST00000261654.5	37	c.938	CCDS9272.1	12	.	.	.	.	.	.	.	.	.	.	C	20.4	3.984436	0.74474	.	.	ENSG00000111452	ENST00000261654;ENST00000535015	T;T	0.53640	0.62;0.61	5.47	5.47	0.80525	.	0.158955	0.43919	D	0.000508	T	0.66587	0.2804	L	0.57536	1.79	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77004	0.989;0.957	T	0.68591	-0.5368	10	0.87932	D	0	.	17.9001	0.88901	0.0:1.0:0.0:0.0	.	345;313	B7ZLF7;Q6QNK2	.;GP133_HUMAN	W	313;345	ENSP00000261654:S313W;ENSP00000444425:S345W	ENSP00000261654:S313W	S	+	2	0	GPR133	130042862	0.664000	0.27457	0.099000	0.21106	0.054000	0.15201	2.135000	0.42112	2.577000	0.86979	0.655000	0.94253	TCG	GPR133	-	NULL		0.493	GPR133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR133	HGNC	protein_coding	OTTHUMT00000399356.1	C	NM_198827		131476909	+1	no_errors	ENST00000261654	ensembl	human	known	70_37	missense	SNP	0.905	G
GPR161	23432	genome.wustl.edu	37	1	168066279	168066279	+	Missense_Mutation	SNP	G	G	A	rs371919925		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:168066279G>A	ENST00000367838.1	-	5	879	c.566C>T	c.(565-567)aCg>aTg	p.T189M	GPR161_ENST00000539777.1_Missense_Mutation_p.T111M|GPR161_ENST00000367835.1_Missense_Mutation_p.T189M|GPR161_ENST00000367836.1_Missense_Mutation_p.T57M|GPR161_ENST00000361697.2_Missense_Mutation_p.T189M|GPR161_ENST00000271357.5_Missense_Mutation_p.T189M|GPR161_ENST00000546300.1_Missense_Mutation_p.T75M|GPR161_ENST00000537209.1_Missense_Mutation_p.T209M	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	189					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)|negative regulation of smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:1901621)|positive regulation of cAMP biosynthetic process (GO:0030819)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|primary cilium (GO:0072372)|recycling endosome (GO:0055037)	G-protein coupled receptor activity (GO:0004930)			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCAGAAGGCCGTGTAGCCAGG	0.592																																																	0								G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	72.0	60.0	64.0		566	4.2	0.7	1		64	0,8600		0,0,4300	no	missense	GPR161	NM_153832.1	81	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	189/530	168066279	1,13005	2203	4300	6503	SO:0001583	missense	23432			AF091890	CCDS1268.1, CCDS58042.1, CCDS58043.1, CCDS58044.1, CCDS58045.1, CCDS72978.1	1q23.3	2012-08-21			ENSG00000143147	ENSG00000143147		"""GPCR / Class A : Orphans"""	23694	protein-coding gene	gene with protein product		612250				11959142	Standard	NM_153832		Approved	RE2	uc009wvo.4	Q8N6U8	OTTHUMG00000034651	ENST00000367838.1:c.566C>T	1.37:g.168066279G>A	ENSP00000356812:p.Thr189Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV34|B7Z5D7|B7Z5E8|B7Z5Z6|F5GXD6|F5H6J7|O75963|Q5TGK0|Q5TGK1|Q5TGK2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.T209M	ENST00000367838.1	37	c.626	CCDS1268.1	1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.940551	0.73557	2.27E-4	0.0	ENSG00000143147	ENST00000367838;ENST00000271357;ENST00000367836;ENST00000367835;ENST00000546300;ENST00000539777;ENST00000537209;ENST00000361697	T;T;T;T;T;T;T;T	0.38240	1.15;1.15;1.15;1.15;1.15;1.15;1.15;1.15	5.07	4.15	0.48705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.47248	0.1435	M	0.66378	2.025	0.45718	D	0.998625	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.87578	0.995;0.995;0.998;0.997;0.968;0.998	T	0.56914	-0.7900	9	0.87932	D	0	-23.8928	13.1838	0.59670	0.0786:0.0:0.9214:0.0	.	209;75;111;209;189;189	F5GXD6;B7Z5E8;F5H6J7;B7Z5Z6;Q8N6U8-2;Q8N6U8	.;.;.;.;.;GP161_HUMAN	M	189;189;57;189;75;111;209;189	ENSP00000356812:T189M;ENSP00000271357:T189M;ENSP00000356810:T57M;ENSP00000356809:T189M;ENSP00000444348:T75M;ENSP00000437576:T111M;ENSP00000441039:T209M;ENSP00000355194:T189M	ENSP00000271357:T189M	T	-	2	0	GPR161	166332903	1.000000	0.71417	0.733000	0.30861	0.962000	0.63368	9.634000	0.98435	1.264000	0.44198	0.561000	0.74099	ACG	GPR161	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.592	GPR161-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR161	HGNC	protein_coding	OTTHUMT00000083829.1	G	NM_007369		168066279	-1	no_errors	ENST00000537209	ensembl	human	known	70_37	missense	SNP	0.999	A
GPR162	27239	genome.wustl.edu	37	12	6933901	6933901	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:6933901C>G	ENST00000311268.3	+	2	1624	c.837C>G	c.(835-837)ctC>ctG	p.L279L	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCGTCTTTCTCTATGACTCAC	0.602																																																	0													56.0	57.0	57.0					12																	6933901		2203	4300	6503	SO:0001819	synonymous_variant	27239			U47928, U47929, U47924, U47925	CCDS8563.1, CCDS44819.1	12p13	2012-08-21						"""GPCR / Class A : Orphans"""	16693	protein-coding gene	gene with protein product						15777626	Standard	NM_014449		Approved	A-2, GRCA	uc001qqw.1	Q16538		ENST00000311268.3:c.837C>G	12.37:g.6933901C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16664|Q59EH5|Q66K56	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_162,prints_GPCR_153/162	p.L279	ENST00000311268.3	37	c.837	CCDS8563.1	12																																																																																			GPR162	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_153/162		0.602	GPR162-003	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR162	HGNC	protein_coding	OTTHUMT00000399478.1	C	NM_019858		6933901	+1	no_errors	ENST00000311268	ensembl	human	known	70_37	silent	SNP	1.000	G
GPR31	2853	genome.wustl.edu	37	6	167570453	167570453	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:167570453G>A	ENST00000366834.1	-	1	1364	c.867C>T	c.(865-867)ttC>ttT	p.F289F		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	289					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		AGGAGCTCCTGAAGGTGGGGC	0.592																																																	0													64.0	65.0	65.0					6																	167570453		2203	4300	6503	SO:0001819	synonymous_variant	2853			U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.867C>T	6.37:g.167570453G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0M0K2|Q4VBL3|Q9NQ20	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.F289	ENST00000366834.1	37	c.867	CCDS5299.1	6																																																																																			GPR31	-	prints_GPCR_Rhodpsn		0.592	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR31	HGNC	protein_coding	OTTHUMT00000043111.1	G	NM_005299		167570453	-1	no_errors	ENST00000366834	ensembl	human	known	70_37	silent	SNP	0.211	A
GPRIN2	9721	genome.wustl.edu	37	10	46998893	46998893	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:46998893C>T	ENST00000374317.1	+	3	286	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	GPRIN2_ENST00000374314.4_Missense_Mutation_p.R5C	NM_014696.3	NP_055511.2	O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	5			R -> H (in dbSNP:rs3127817). {ECO:0000269|PubMed:15489334, ECO:0000269|PubMed:9628581}.							breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						GAGCTCCAGCCGCCCCGAGCC	0.642																																																	0													50.0	69.0	62.0					10																	46998893		2178	4262	6440	SO:0001583	missense	9721			BC011672	CCDS73101.1	10q11.22	2006-08-24	2006-08-24	2006-08-24	ENSG00000204175	ENSG00000204175			23730	protein-coding gene	gene with protein product		611240	"""KIAA0514"""	KIAA0514		9628581	Standard	NM_014696		Approved	MGC15171	uc001jec.3	O60269	OTTHUMG00000018107	ENST00000374317.1:c.13C>T	10.37:g.46998893C>T	ENSP00000363436:p.Arg5Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SVF0	Missense_Mutation	SNP	NULL	p.R5C	ENST00000374317.1	37	c.13	CCDS31192.1	10	.	.	.	.	.	.	.	.	.	.	C	14.63	2.591664	0.46214	.	.	ENSG00000204175	ENST00000374317;ENST00000374314	T;T	0.03635	3.86;3.86	5.33	3.38	0.38709	.	1.094990	0.07068	N	0.834916	T	0.07413	0.0187	L	0.51422	1.61	0.29188	N	0.876053	D	0.67145	0.996	P	0.47705	0.555	T	0.28996	-1.0026	10	0.62326	D	0.03	-0.4433	8.1416	0.31086	0.0:0.7506:0.1592:0.0902	.	5	O60269	GRIN2_HUMAN	C	5	ENSP00000363436:R5C;ENSP00000363433:R5C	ENSP00000363433:R5C	R	+	1	0	GPRIN2	46418899	0.722000	0.28017	0.924000	0.36721	0.739000	0.42172	1.074000	0.30703	1.391000	0.46566	0.655000	0.94253	CGC	GPRIN2	-	NULL		0.642	GPRIN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN2	HGNC	protein_coding	OTTHUMT00000047836.1	C	NM_014696		46998893	+1	no_errors	ENST00000374314	ensembl	human	known	70_37	missense	SNP	0.726	T
GPS1	2873	genome.wustl.edu	37	17	80014758	80014758	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:80014758G>C	ENST00000306823.6	+	12	1332	c.1309G>C	c.(1309-1311)Gag>Cag	p.E437Q	GPS1_ENST00000392358.2_Missense_Mutation_p.E473Q|GPS1_ENST00000578552.1_Missense_Mutation_p.E433Q|GPS1_ENST00000355130.2_Missense_Mutation_p.E473Q|GPS1_ENST00000320548.4_Missense_Mutation_p.E417Q			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	437					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CACCACCTTTGAGAAGTCTCT	0.652																																																	0													55.0	48.0	50.0					17																	80014758		2202	4300	6502	SO:0001583	missense	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.1309G>C	17.37:g.80014758G>C	ENSP00000302873:p.Glu437Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NA10|Q9BWL1	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.E473Q	ENST00000306823.6	37	c.1417	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	g	14.67	2.604242	0.46423	.	.	ENSG00000169727	ENST00000392358;ENST00000320548;ENST00000306823;ENST00000355130	.	.	.	4.12	4.12	0.48240	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.53254	0.1785	L	0.43701	1.375	0.80722	D	1	B;P;P;B;B;P	0.44309	0.196;0.741;0.537;0.296;0.356;0.832	B;B;B;B;B;B	0.43658	0.049;0.245;0.155;0.106;0.178;0.426	T	0.52139	-0.8615	9	0.25751	T	0.34	-41.0039	16.5325	0.84365	0.0:0.0:1.0:0.0	.	429;472;422;433;437;473	B4DND6;A8K070;Q13098-6;Q13098-5;Q13098;Q13098-7	.;.;.;.;CSN1_HUMAN;.	Q	473;423;437;473	.	ENSP00000302873:E437Q	E	+	1	0	GPS1	77608047	1.000000	0.71417	0.990000	0.47175	0.835000	0.47333	7.249000	0.78278	2.129000	0.65627	0.457000	0.33378	GAG	GPS1	-	smart_PCI_dom		0.652	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	G	NM_212492		80014758	+1	no_errors	ENST00000355130	ensembl	human	known	70_37	missense	SNP	1.000	C
GRIA1	2890	genome.wustl.edu	37	5	153181983	153181983	+	Missense_Mutation	SNP	G	G	T	rs267600500		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:153181983G>T	ENST00000285900.5	+	15	2796	c.2453G>T	c.(2452-2454)gGa>gTa	p.G818V	GRIA1_ENST00000340592.5_Missense_Mutation_p.G818V|GRIA1_ENST00000448073.4_Missense_Mutation_p.G828V|GRIA1_ENST00000518783.1_Missense_Mutation_p.G828V|GRIA1_ENST00000518142.1_Missense_Mutation_p.G738V|GRIA1_ENST00000521843.2_Missense_Mutation_p.G749V	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	818					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|axonal spine (GO:0044308)|cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|neuron spine (GO:0044309)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|PDZ domain binding (GO:0030165)	p.G818E(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Perampanel(DB08883)|Sevoflurane(DB01236)	GGAGGACTTGGACTAGCCATG	0.537																																																	1	Substitution - Missense(1)	skin(1)											214.0	195.0	201.0					5																	153181983		2203	4300	6503	SO:0001583	missense	2890				CCDS4322.1, CCDS47318.1, CCDS58986.1, CCDS58987.1, CCDS58988.1, CCDS58989.1	5q33	2012-08-29			ENSG00000155511	ENSG00000155511		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4571	protein-coding gene	gene with protein product		138248		GLUR1		1652753, 1319477	Standard	NM_000827		Approved	GluA1, GLURA	uc011dcy.2	P42261	OTTHUMG00000130148	ENST00000285900.5:c.2453G>T	5.37:g.153181983G>T	ENSP00000285900:p.Gly818Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2S0|B7Z2W8|B7Z3F6|B7Z9G9|D3DQI4|E7ESV8|Q2NKM6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.G828V	ENST00000285900.5	37	c.2483	CCDS4322.1	5	.	.	.	.	.	.	.	.	.	.	G	14.61	2.588279	0.46110	.	.	ENSG00000155511	ENST00000285900;ENST00000544403;ENST00000518142;ENST00000340592;ENST00000521843;ENST00000544794;ENST00000518783;ENST00000448073	T;T;T;T;T;T;T	0.11063	2.87;2.81;2.89;2.83;2.82;2.86;2.88	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.21921	0.0528	L	0.60455	1.87	0.80722	D	1	P;P;B;P;P	0.50710	0.938;0.938;0.01;0.928;0.658	P;P;B;P;B	0.52343	0.621;0.621;0.007;0.696;0.209	T	0.01182	-1.1426	10	0.22109	T	0.4	.	18.1053	0.89518	0.0:0.0:1.0:0.0	.	828;828;738;818;818	E7ESV8;B7Z9G9;B7Z3F6;P42261-2;P42261	.;.;.;.;GRIA1_HUMAN	V	818;818;738;818;751;749;828;828	ENSP00000285900:G818V;ENSP00000427920:G738V;ENSP00000339343:G818V;ENSP00000427864:G751V;ENSP00000442108:G749V;ENSP00000428994:G828V;ENSP00000415569:G828V	ENSP00000285900:G818V	G	+	2	0	GRIA1	153162176	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.581000	0.98210	2.516000	0.84829	0.655000	0.94253	GGA	GRIA1	-	prints_NMDA_rcpt		0.537	GRIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GRIA1	HGNC	protein_coding	OTTHUMT00000252456.3	G			153181983	+1	no_errors	ENST00000448073	ensembl	human	known	70_37	missense	SNP	1.000	T
GRID1	2894	genome.wustl.edu	37	10	87898651	87898651	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:87898651C>G	ENST00000327946.7	-	4	736	c.651G>C	c.(649-651)ctG>ctC	p.L217L		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	217					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GGTAGCGATTCAGCTCCTCTG	0.592										Multiple Myeloma(13;0.14)																																							0													208.0	178.0	188.0					10																	87898651		2203	4300	6503	SO:0001819	synonymous_variant	2894			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.651G>C	10.37:g.87898651C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXD5|B7Z7L0|Q8IXT3	Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.L217	ENST00000327946.7	37	c.651	CCDS31236.1	10																																																																																			GRID1	-	pfam_ANF_lig-bd_rcpt		0.592	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	C	XM_043613		87898651	-1	no_errors	ENST00000327946	ensembl	human	known	70_37	silent	SNP	1.000	G
GRIN3A	116443	genome.wustl.edu	37	9	104499576	104499576	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:104499576G>A	ENST00000361820.3	-	1	1286	c.686C>T	c.(685-687)cCa>cTa	p.P229L		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	229					calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	ACTCTCCCGTGGAAACTCGTG	0.607																																																	0													52.0	46.0	48.0					9																	104499576		2203	4300	6503	SO:0001583	missense	116443				CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.686C>T	9.37:g.104499576G>A	ENSP00000355155:p.Pro229Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	p.P229L	ENST00000361820.3	37	c.686	CCDS6758.1	9	.	.	.	.	.	.	.	.	.	.	G	16.40	3.113140	0.56398	.	.	ENSG00000198785	ENST00000361820	D	0.85702	-2.02	5.39	5.39	0.77823	.	0.580338	0.17641	N	0.167038	D	0.83585	0.5286	L	0.50333	1.59	0.58432	D	0.999996	P	0.52842	0.956	B	0.41813	0.367	D	0.84835	0.0804	10	0.48119	T	0.1	.	19.1686	0.93567	0.0:0.0:1.0:0.0	.	229	Q8TCU5	NMD3A_HUMAN	L	229	ENSP00000355155:P229L	ENSP00000355155:P229L	P	-	2	0	GRIN3A	103539397	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.163000	0.58183	2.515000	0.84797	0.655000	0.94253	CCA	GRIN3A	-	NULL		0.607	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN3A	HGNC	protein_coding	OTTHUMT00000053453.1	G			104499576	-1	no_errors	ENST00000361820	ensembl	human	known	70_37	missense	SNP	1.000	A
GRK1	6011	genome.wustl.edu	37	13	114325968	114325968	+	Missense_Mutation	SNP	G	G	A	rs376631949		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:114325968G>A	ENST00000335678.6	+	3	1214	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	328	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCTGGACAATGACGGTAGGAG	0.403																																																	0									ASN/ASP	0,4050		0,0,2025	14.0	15.0	15.0		982	4.4	0.3	13		15	1,8321		0,1,4160	no	missense	GRK1	NM_002929.2	23	0,1,6185	AA,AG,GG		0.012,0.0,0.0081	possibly-damaging	328/564	114325968	1,12371	2025	4161	6186	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.982G>A	13.37:g.114325968G>A	ENSP00000334876:p.Asp328Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.D328N	ENST00000335678.6	37	c.982		13	.	.	.	.	.	.	.	.	.	.	g	12.99	2.103326	0.37145	0.0	1.2E-4	ENSG00000185974	ENST00000335678	T	0.25579	1.79	4.43	4.43	0.53597	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.160118	0.53938	D	0.000051	T	0.26738	0.0654	.	.	.	0.41428	D	0.987849	B	0.31125	0.309	B	0.38500	0.275	T	0.06972	-1.0797	9	0.28530	T	0.3	-26.2837	14.8991	0.70664	0.0:0.0:1.0:0.0	.	328	Q15835	RK_HUMAN	N	328	ENSP00000334876:D328N	ENSP00000334876:D328N	D	+	1	0	GRK1	113373969	0.567000	0.26626	0.297000	0.24988	0.650000	0.38633	3.091000	0.50199	2.148000	0.66965	0.506000	0.49869	GAC	GRK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.403	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1	G	NM_002929		114325968	+1	no_errors	ENST00000335678	ensembl	human	known	70_37	missense	SNP	0.986	A
GRM2	2912	genome.wustl.edu	37	3	51751678	51751678	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:51751678C>T	ENST00000395052.3	+	5	2624	c.2390C>T	c.(2389-2391)tCa>tTa	p.S797L	GRM2_ENST00000475478.1_3'UTR|GRM2_ENST00000442933.2_Missense_Mutation_p.S519L	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	797					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|glutamate secretion (GO:0014047)|negative regulation of adenylate cyclase activity (GO:0007194)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	calcium channel regulator activity (GO:0005246)|G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group II metabotropic glutamate receptor activity (GO:0001641)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ATGTGCGTGTCAGTCAGCCTC	0.622																																																	0													59.0	52.0	55.0					3																	51751678		2203	4300	6503	SO:0001583	missense	2912			L35318	CCDS2834.1	3p21.2	2013-09-20			ENSG00000164082	ENSG00000164082		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4594	protein-coding gene	gene with protein product		604099				7620613	Standard	NM_000839		Approved	GPRC1B, mGlu2, MGLUR2	uc010hlv.3	Q14416	OTTHUMG00000156902	ENST00000395052.3:c.2390C>T	3.37:g.51751678C>T	ENSP00000378492:p.Ser797Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0M0K7|Q14CU5|Q52MC6|Q9H3N6	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_2,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_3,prints_GPCR_3_GABA_rcpt_B	p.S797L	ENST00000395052.3	37	c.2390	CCDS2834.1	3	.	.	.	.	.	.	.	.	.	.	C	24.0	4.482516	0.84747	.	.	ENSG00000164082	ENST00000395052;ENST00000442933	D;D	0.88509	-2.39;-2.39	5.01	5.01	0.66863	GPCR, family 3, C-terminal (2);	0.000000	0.85682	D	0.000000	D	0.91740	0.7388	L	0.46947	1.48	0.46241	D	0.998947	P	0.50710	0.938	D	0.64237	0.923	D	0.88843	0.3314	10	0.23302	T	0.38	.	18.8163	0.92077	0.0:1.0:0.0:0.0	.	797	Q14416	GRM2_HUMAN	L	797;519	ENSP00000378492:S797L;ENSP00000408906:S519L	ENSP00000378492:S797L	S	+	2	0	GRM2	51726718	1.000000	0.71417	0.943000	0.38184	0.891000	0.51852	7.749000	0.85096	2.721000	0.93114	0.609000	0.83330	TCA	GRM2	-	pfam_GPCR_3_C,pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_GABA_rcpt_B		0.622	GRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM2	HGNC	protein_coding	OTTHUMT00000346542.1	C			51751678	+1	no_errors	ENST00000395052	ensembl	human	known	70_37	missense	SNP	1.000	T
GRN	2896	genome.wustl.edu	37	17	42426636	42426636	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:42426636G>A	ENST00000053867.3	+	2	166	c.104G>A	c.(103-105)gGa>gAa	p.G35E	GRN_ENST00000589265.1_Missense_Mutation_p.G35E	NM_002087.2	NP_002078.1	P28799	GRN_HUMAN	granulin	35					blastocyst hatching (GO:0001835)|cell death (GO:0008219)|embryo implantation (GO:0007566)|positive regulation of epithelial cell proliferation (GO:0050679)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrion (GO:0005739)	growth factor activity (GO:0008083)|poly(A) RNA binding (GO:0044822)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CTGGACCCCGGAGGAGCCAGC	0.637																																																	0													49.0	43.0	45.0					17																	42426636		2203	4300	6503	SO:0001583	missense	2896			M75161	CCDS11483.1	17q21.32	2014-09-17				ENSG00000030582			4601	protein-coding gene	gene with protein product	"""progranulin"""	138945				1417868, 9826678	Standard	XM_005257253		Approved	PCDGF, PGRN, CLN11	uc002igp.1	P28799		ENST00000053867.3:c.104G>A	17.37:g.42426636G>A	ENSP00000053867:p.Gly35Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX55|P23781|P23782|P23783|P23784|Q53HQ8|Q53Y88|Q540U8|Q9BWE7|Q9H8S1|Q9UCH0	Missense_Mutation	SNP	pfam_Granulin,smart_Granulin	p.G35E	ENST00000053867.3	37	c.104	CCDS11483.1	17	.	.	.	.	.	.	.	.	.	.	g	14.37	2.515404	0.44763	.	.	ENSG00000030582	ENST00000053867;ENST00000357351	T	0.72835	-0.69	4.68	2.64	0.31445	.	0.419560	0.20944	N	0.082872	T	0.50786	0.1636	L	0.36672	1.1	0.20307	N	0.999911	B;P	0.38395	0.276;0.629	B;B	0.31390	0.098;0.129	T	0.33214	-0.9877	10	0.15952	T	0.53	-0.367	7.8438	0.29414	0.2078:0.0:0.7922:0.0	.	35;35	B4E1G5;P28799	.;GRN_HUMAN	E	35	ENSP00000053867:G35E	ENSP00000053867:G35E	G	+	2	0	GRN	39782162	0.991000	0.36638	0.956000	0.39512	0.961000	0.63080	0.958000	0.29227	1.105000	0.41606	0.457000	0.33378	GGA	GRN	-	NULL		0.637	GRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRN	HGNC	protein_coding	OTTHUMT00000457766.1	G	NM_002087		42426636	+1	no_errors	ENST00000053867	ensembl	human	known	70_37	missense	SNP	0.888	A
GRSF1	2926	genome.wustl.edu	37	4	71697314	71697314	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:71697314C>T	ENST00000254799.6	-	5	1009	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	GRSF1_ENST00000508091.1_Intron|GRSF1_ENST00000502323.1_Missense_Mutation_p.E136K|GRSF1_ENST00000545193.1_Missense_Mutation_p.E180K|GRSF1_ENST00000439371.1_Missense_Mutation_p.E136K	NM_002092.3	NP_002083	Q12849	GRSF1_HUMAN	G-rich RNA sequence binding factor 1	298	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anterior/posterior pattern specification (GO:0009952)|morphogenesis of embryonic epithelium (GO:0016331)|mRNA polyadenylation (GO:0006378)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			TCTGGTTCTTCAAATTGCACA	0.403																																																	0													140.0	128.0	132.0					4																	71697314		1856	4099	5955	SO:0001583	missense	2926			BC040485	CCDS47069.1, CCDS47070.1	4q13	2013-07-16				ENSG00000132463		"""RNA binding motif (RRM) containing"""	4610	protein-coding gene	gene with protein product		604851				8036161	Standard	NM_001098477		Approved		uc010iia.1	Q12849		ENST00000254799.6:c.892G>A	4.37:g.71697314C>T	ENSP00000254799:p.Glu298Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPW0|Q4W5S5|Q6ZST3|Q8IWD6|Q8NBD2	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E298K	ENST00000254799.6	37	c.892	CCDS47069.1	4	.	.	.	.	.	.	.	.	.	.	C	18.23	3.578427	0.65878	.	.	ENSG00000132463	ENST00000254799;ENST00000439371;ENST00000540657;ENST00000499044;ENST00000502323;ENST00000545193	T;T;T;T;T	0.08546	3.08;3.08;3.08;3.08;3.08	5.17	5.17	0.71159	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.519574	0.22094	N	0.064706	T	0.06917	0.0176	N	0.11673	0.155	0.35745	D	0.819012	B;P	0.49185	0.411;0.92	B;B	0.44315	0.237;0.446	T	0.49661	-0.8916	10	0.17832	T	0.49	-6.5903	18.8672	0.92298	0.0:1.0:0.0:0.0	.	211;298	B7Z5F9;Q12849	.;GRSF1_HUMAN	K	298;136;230;271;136;180	ENSP00000254799:E298K;ENSP00000389219:E136K;ENSP00000427354:E271K;ENSP00000425430:E136K;ENSP00000443380:E180K	ENSP00000254799:E298K	E	-	1	0	GRSF1	71916178	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.239000	0.43079	2.681000	0.91329	0.579000	0.79373	GAA	GRSF1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.403	GRSF1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GRSF1	HGNC	protein_coding	OTTHUMT00000362642.1	C	NM_002092		71697314	-1	no_errors	ENST00000254799	ensembl	human	known	70_37	missense	SNP	1.000	T
GSN	2934	genome.wustl.edu	37	9	124073024	124073024	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:124073024C>G	ENST00000373818.4	+	4	636	c.567C>G	c.(565-567)ctC>ctG	p.L189L	GSN_ENST00000545652.1_Silent_p.L146L|GSN_ENST00000341272.2_Silent_p.L138L|GSN_ENST00000373807.1_5'Flank|GSN_ENST00000449733.1_Silent_p.L138L|GSN_ENST00000394353.2_Silent_p.L149L|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000373808.2_Silent_p.L138L|GSN_ENST00000412819.1_Silent_p.L138L|GSN_ENST00000373823.3_Silent_p.L138L|GSN_ENST00000436847.1_Silent_p.L149L	NM_000177.4|NM_001258029.1	NP_000168.1|NP_001244958.1	P06396	GELS_HUMAN	gelsolin	189	Polyphosphoinositide binding. {ECO:0000250}.				actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|aging (GO:0007568)|apoptotic process (GO:0006915)|barbed-end actin filament capping (GO:0051016)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to cadmium ion (GO:0071276)|cilium morphogenesis (GO:0060271)|oligodendrocyte development (GO:0014003)|phosphatidylinositol-mediated signaling (GO:0048015)|regulation of cell adhesion (GO:0030155)|response to ethanol (GO:0045471)|response to folic acid (GO:0051593)|tissue regeneration (GO:0042246)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGCAGAGACTCTTCCAGGTCA	0.587																																																	0													210.0	149.0	170.0					9																	124073024		2203	4300	6503	SO:0001819	synonymous_variant	2934			X04412	CCDS6828.1, CCDS6829.1, CCDS48011.1, CCDS65118.1, CCDS75890.1, CCDS75891.1	9q33	2010-04-27	2010-04-27		ENSG00000148180	ENSG00000148180			4620	protein-coding gene	gene with protein product	"""amyloidosis, Finnish type"""	137350	"""gelsolin (amyloidosis, Finnish type)"""			1652889	Standard	NM_001127662		Approved	DKFZp313L0718	uc004blf.1	P06396	OTTHUMG00000020584	ENST00000373818.4:c.567C>G	9.37:g.124073024C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A418|A8MUD1|A8MYN7|B7Z373|B7Z5V1|F5H1A8|Q5T0I2|Q8WVV7	Silent	SNP	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin	p.L189	ENST00000373818.4	37	c.567	CCDS6828.1	9																																																																																			GSN	-	smart_Gelsolin		0.587	GSN-001	KNOWN	basic|CCDS	protein_coding	GSN	HGNC	protein_coding	OTTHUMT00000053861.1	C	NM_000177		124073024	+1	no_errors	ENST00000373818	ensembl	human	known	70_37	silent	SNP	1.000	G
GSTM2	2946	genome.wustl.edu	37	1	110213924	110213924	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:110213924G>A	ENST00000241337.4	+	6	426	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	GSTM2_ENST00000414179.2_Missense_Mutation_p.E22K|GSTM2_ENST00000442650.1_Missense_Mutation_p.E126K|GSTM2_ENST00000369829.2_Missense_Mutation_p.E126K|GSTM2_ENST00000460717.3_Missense_Mutation_p.E126K|GSTM2_ENST00000369827.3_Missense_Mutation_p.E124K|GSTM2_ENST00000369831.2_Missense_Mutation_p.E126K	NM_000848.3	NP_000839.1	P28161	GSTM2_HUMAN	glutathione S-transferase mu 2 (muscle)	126	GST C-terminal.				cellular detoxification of nitrogen compound (GO:0070458)|cellular response to caffeine (GO:0071313)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|nitrobenzene metabolic process (GO:0018916)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|relaxation of cardiac muscle (GO:0055119)|small molecule metabolic process (GO:0044281)|xenobiotic catabolic process (GO:0042178)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	enzyme binding (GO:0019899)|glutathione binding (GO:0043295)|glutathione transferase activity (GO:0004364)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	ACTGAAACCAGAATACCTGCA	0.542																																																	0													85.0	83.0	84.0					1																	110213924		2203	4300	6503	SO:0001583	missense	2946			M63509	CCDS808.1, CCDS44192.1	1p13.3	2012-06-21	2008-11-26		ENSG00000213366	ENSG00000213366	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4634	protein-coding gene	gene with protein product		138380	"""glutathione S-transferase M2 (muscle)"""			2034681, 2345169	Standard	NM_000848		Approved	GST4		P28161	OTTHUMG00000011638	ENST00000241337.4:c.376G>A	1.37:g.110213924G>A	ENSP00000241337:p.Glu126Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRY4|E9PEM9|Q2M318|Q5TZY5|Q8WWE1	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_GST_mu	p.E126K	ENST00000241337.4	37	c.376	CCDS808.1	1	.	.	.	.	.	.	.	.	.	.	G	6.665	0.491266	0.12702	.	.	ENSG00000213366	ENST00000442650;ENST00000369827;ENST00000369831;ENST00000460717;ENST00000414179;ENST00000369829;ENST00000241337	T;T;T;T;T;T;T	0.03663	4.38;3.85;4.38;4.38;4.38;4.38;4.38	3.06	2.12	0.27331	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	0.588316	0.15445	N	0.261989	T	0.01092	0.0036	L	0.40543	1.245	0.09310	N	1	B;B;B	0.11235	0.001;0.003;0.004	B;B;B	0.15870	0.014;0.007;0.003	T	0.46871	-0.9160	10	0.24483	T	0.36	.	7.5498	0.27790	0.1317:0.0:0.8683:0.0	.	126;126;126	E9PEM9;P28161;Q0D2I8	.;GSTM2_HUMAN;.	K	126;124;126;126;22;126;126	ENSP00000416883:E126K;ENSP00000358842:E124K;ENSP00000358846:E126K;ENSP00000435910:E126K;ENSP00000404662:E22K;ENSP00000358844:E126K;ENSP00000241337:E126K	ENSP00000241337:E126K	E	+	1	0	GSTM2	110015447	0.001000	0.12720	0.002000	0.10522	0.058000	0.15608	1.030000	0.30153	0.605000	0.29947	0.484000	0.47621	GAA	GSTM2	-	pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like		0.542	GSTM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GSTM2	HGNC	protein_coding	OTTHUMT00000032167.2	G	NM_000848		110213924	+1	no_errors	ENST00000241337	ensembl	human	known	70_37	missense	SNP	0.205	A
GTF2A1	2957	genome.wustl.edu	37	14	81659136	81659136	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:81659136G>A	ENST00000553612.1	-	7	1063	c.660C>T	c.(658-660)atC>atT	p.I220I	GTF2A1_ENST00000434192.2_Silent_p.I181I	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	220					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		GAGGCTGGATGATGACACCTG	0.448																																																	0													149.0	148.0	148.0					14																	81659136		2203	4300	6503	SO:0001819	synonymous_variant	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.660C>T	14.37:g.81659136G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNQ9	Silent	SNP	pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx	p.I220	ENST00000553612.1	37	c.660	CCDS9873.1	14																																																																																			GTF2A1	-	pfam_TFIIA_asu/bsu		0.448	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A1	HGNC	protein_coding	OTTHUMT00000413309.1	G	NM_015859		81659136	-1	no_errors	ENST00000553612	ensembl	human	known	70_37	silent	SNP	1.000	A
GTF2A1	2957	genome.wustl.edu	37	14	81670289	81670289	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:81670289G>A	ENST00000553612.1	-	3	695	c.292C>T	c.(292-294)Cag>Tag	p.Q98*	SNORA79_ENST00000408376.1_RNA|GTF2A1_ENST00000434192.2_Nonsense_Mutation_p.Q59*	NM_001278940.1|NM_015859.3	NP_001265869.1|NP_056943.1	P52655	TF2AA_HUMAN	general transcription factor IIA, 1, 19/37kDa	98					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIIA complex (GO:0005672)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(234;0.0287)		TGCGCTTGCTGAGGTACTGTc	0.488																																																	0													137.0	99.0	112.0					14																	81670289		2203	4300	6503	SO:0001587	stop_gained	2957			X75383	CCDS9873.1, CCDS9874.1	14q31	2010-03-23	2002-08-29					"""General transcription factors"""	4646	protein-coding gene	gene with protein product		600520	"""glucose regulated protein, 58kD pseudogene"""			8224848	Standard	NM_015859		Approved	TFIIA	uc001xvf.2	P52655		ENST00000553612.1:c.292C>T	14.37:g.81670289G>A	ENSP00000452454:p.Gln98*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KNQ9	Nonsense_Mutation	SNP	pfam_TFIIA_asu/bsu,superfamily_TFIIA_b-brl,superfamily_TFIIA_a-hlx	p.Q98*	ENST00000553612.1	37	c.292	CCDS9873.1	14	.	.	.	.	.	.	.	.	.	.	G	40	7.946775	0.98577	.	.	ENSG00000165417	ENST00000553612;ENST00000344860;ENST00000434192	.	.	.	5.64	5.64	0.86602	.	0.138662	0.48767	D	0.000169	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-1.2638	19.691	0.96000	0.0:0.0:1.0:0.0	.	.	.	.	X	98;59;59	.	ENSP00000298173:Q98X	Q	-	1	0	GTF2A1	80740042	1.000000	0.71417	0.998000	0.56505	0.923000	0.55619	8.426000	0.90273	2.655000	0.90218	0.563000	0.77884	CAG	GTF2A1	-	pfam_TFIIA_asu/bsu		0.488	GTF2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF2A1	HGNC	protein_coding	OTTHUMT00000413309.1	G	NM_015859		81670289	-1	no_errors	ENST00000553612	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GTF3A	2971	genome.wustl.edu	37	13	27999140	27999140	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:27999140C>T	ENST00000381140.4	+	1	395					NM_002097.2	NP_002088	Q92664	TF3A_HUMAN	general transcription factor IIIA						gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)			breast(1)|lung(1)	2		Lung SC(185;0.0156)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.11)|OV - Ovarian serous cystadenocarcinoma(117;0.158)		GTAGCCACTGCAGTCGTGGCC	0.662																																																	0																																										SO:0001627	intron_variant	2971				CCDS45019.1	13q12.3-q13.1	2013-01-08			ENSG00000122034	ENSG00000122034		"""General transcription factors"", ""Zinc fingers, C2H2-type"""	4662	protein-coding gene	gene with protein product		600860				7789179	Standard	NM_002097		Approved	TFIIIA, AP2	uc001ure.2	Q92664	OTTHUMG00000016632	ENST00000381140.4:c.201+65C>T	13.37:g.27999140C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBK5|Q12963|Q13097	Missense_Mutation	SNP	pfscan_Znf_C2H2	p.A89V	ENST00000381140.4	37	c.266	CCDS45019.1	13																																																																																			GTF3A	-	NULL		0.662	GTF3A-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	GTF3A	HGNC	protein_coding	OTTHUMT00000044281.2	C	NM_002097		27999140	+1	no_errors	ENST00000438571	ensembl	human	known	70_37	missense	SNP	0.000	T
GTF3C1	2975	genome.wustl.edu	37	16	27475971	27475971	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:27475971C>T	ENST00000356183.4	-	34	5557	c.5542G>A	c.(5542-5544)Gag>Aag	p.E1848K	GTF3C1_ENST00000561623.1_Missense_Mutation_p.E1848K	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1848					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|rRNA transcription (GO:0009303)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription (GO:0009304)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCCTGCCCCTCGGGGGGGCTG	0.677																																																	0													28.0	35.0	33.0					16																	27475971		2172	4248	6420	SO:0001583	missense	2975			U06485	CCDS32414.1, CCDS66988.1	16p12	2010-03-23	2002-08-29			ENSG00000077235		"""General transcription factors"""	4664	protein-coding gene	gene with protein product		603246	"""general transcription factor IIIC, polypeptide 1 (alpha subunit, 220kD )"""			8164661, 8127861	Standard	NM_001520		Approved	TFIIIC220	uc002dov.2	Q12789		ENST00000356183.4:c.5542G>A	16.37:g.27475971C>T	ENSP00000348510:p.Glu1848Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP21|Q12838|Q6DKN9|Q9Y4W9	Missense_Mutation	SNP	pfam_TFIIIC_Bblock-bd	p.E1848K	ENST00000356183.4	37	c.5542	CCDS32414.1	16	.	.	.	.	.	.	.	.	.	.	C	17.35	3.366598	0.61513	.	.	ENSG00000077235	ENST00000356183	T	0.26957	1.7	4.89	3.94	0.45596	.	0.971962	0.08497	N	0.937089	T	0.48132	0.1483	M	0.65975	2.015	0.09310	N	1	P;D	0.89917	0.833;1.0	B;D	0.79108	0.1;0.992	T	0.22906	-1.0203	10	0.32370	T	0.25	-21.6131	10.3431	0.43891	0.0:0.9065:0.0:0.0935	.	1848;1848	Q12789;Q12789-3	TF3C1_HUMAN;.	K	1848	ENSP00000348510:E1848K	ENSP00000348510:E1848K	E	-	1	0	GTF3C1	27383472	0.000000	0.05858	0.002000	0.10522	0.005000	0.04900	0.501000	0.22578	1.063000	0.40649	0.561000	0.74099	GAG	GTF3C1	-	NULL		0.677	GTF3C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C1	HGNC	protein_coding	OTTHUMT00000433856.1	C	NM_001520		27475971	-1	no_errors	ENST00000356183	ensembl	human	known	70_37	missense	SNP	0.012	T
GTF3C2	2976	genome.wustl.edu	37	2	27551770	27551770	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27551770C>G	ENST00000359541.2	-	15	2497	c.2068G>C	c.(2068-2070)Gac>Cac	p.D690H	GTF3C2_ENST00000264720.3_Missense_Mutation_p.D690H			Q8WUA4	TF3C2_HUMAN	general transcription factor IIIC, polypeptide 2, beta 110kDa	690					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)				central_nervous_system(4)|endometrium(6)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	38	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAACCAGCGTCAATATAATGA	0.393																																																	0													68.0	70.0	69.0					2																	27551770		2203	4300	6503	SO:0001583	missense	2976			D13636	CCDS1749.1	2p23.3	2013-01-10	2002-08-29		ENSG00000115207	ENSG00000115207		"""General transcription factors"", ""WD repeat domain containing"""	4665	protein-coding gene	gene with protein product		604883	"""general transcription factor IIIC, polypeptide 2 (beta subunit, 110kD)"""			7729686	Standard	NM_001521		Approved	KIAA0011, TFIIIC110	uc002rjw.2	Q8WUA4	OTTHUMG00000097785	ENST00000359541.2:c.2068G>C	2.37:g.27551770C>G	ENSP00000352536:p.Asp690His	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W557|Q16632|Q9BWI7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D690H	ENST00000359541.2	37	c.2068	CCDS1749.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.09|19.09	3.759399|3.759399	0.69763|0.69763	.|.	.|.	ENSG00000115207|ENSG00000115207	ENST00000359541;ENST00000264720|ENST00000454704;ENST00000415683	T;T|.	0.74526|.	-0.85;-0.85|.	5.5|5.5	5.5|5.5	0.81552|0.81552	WD40 repeat-like-containing domain (1);|.	0.047686|.	0.85682|.	D|.	0.000000|.	T|T	0.55800|0.55800	0.1943|0.1943	L|L	0.27053|0.27053	0.805|0.805	0.58432|0.58432	D|D	0.999997|0.999997	D|.	0.89917|.	1.0|.	D|.	0.78314|.	0.991|.	T|T	0.49214|0.49214	-0.8963|-0.8963	10|5	0.35671|.	T|.	0.21|.	-16.3645|-16.3645	17.2462|17.2462	0.87029|0.87029	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	690|.	Q8WUA4|.	TF3C2_HUMAN|.	H|F	690|198;91	ENSP00000352536:D690H;ENSP00000264720:D690H|.	ENSP00000264720:D690H|.	D|L	-|-	1|3	0|2	GTF3C2|GTF3C2	27405274|27405274	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.882000|0.882000	0.50991|0.50991	6.682000|6.682000	0.74528|0.74528	2.758000|2.758000	0.94735|0.94735	0.561000|0.561000	0.74099|0.74099	GAC|TTG	GTF3C2	-	superfamily_WD40_repeat_dom		0.393	GTF3C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C2	HGNC	protein_coding	OTTHUMT00000215028.2	C			27551770	-1	no_errors	ENST00000264720	ensembl	human	known	70_37	missense	SNP	1.000	G
GTF3C4	9329	genome.wustl.edu	37	9	135553529	135553529	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:135553529G>A	ENST00000372146.4	+	2	1087	c.523G>A	c.(523-525)Gat>Aat	p.D175N	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	175					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CATGGGTTGCGATGCTAATGG	0.532																																					Pancreas(142;417 1875 11086 31973 47667)												0													115.0	112.0	113.0					9																	135553529		2203	4300	6503	SO:0001583	missense	9329			AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.523G>A	9.37:g.135553529G>A	ENSP00000361219:p.Asp175Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZJ7	Missense_Mutation	SNP	superfamily_WD40_repeat_dom	p.D175N	ENST00000372146.4	37	c.523	CCDS6953.1	9	.	.	.	.	.	.	.	.	.	.	G	22.6	4.313797	0.81358	.	.	ENSG00000125484	ENST00000372146	T	0.43294	0.95	5.72	5.72	0.89469	Transcription factor IIIC, 90kDa subunit, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.51686	0.1689	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.35699	-0.9778	10	0.19147	T	0.46	-28.8323	18.4551	0.90717	0.0:0.0:1.0:0.0	.	175	Q9UKN8	TF3C4_HUMAN	N	175	ENSP00000361219:D175N	ENSP00000361219:D175N	D	+	1	0	GTF3C4	134543350	1.000000	0.71417	0.999000	0.59377	0.993000	0.82548	9.238000	0.95380	2.709000	0.92574	0.561000	0.74099	GAT	GTF3C4	-	NULL		0.532	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTF3C4	HGNC	protein_coding	OTTHUMT00000054792.1	G			135553529	+1	no_errors	ENST00000372146	ensembl	human	known	70_37	missense	SNP	1.000	A
GTSF1	121355	genome.wustl.edu	37	12	54858833	54858833	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:54858833G>C	ENST00000552397.1	-	3	1014				GTSF1_ENST00000552395.1_Intron|GTSF1_ENST00000305879.5_Intron|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1							cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				GGTGTTAGAGGGCAAATTATG	0.348																																																	0													134.0	128.0	130.0					12																	54858833		2203	4300	6503	SO:0001627	intron_variant	121355			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.117+17C>G	12.37:g.54858833G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ60|Q0VGM4|Q8N778	RNA	SNP	-	NULL	ENST00000552397.1	37	NULL	CCDS8881.1	12																																																																																			GTSF1	-	-		0.348	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GTSF1	HGNC	protein_coding	OTTHUMT00000406187.1	G	NM_144594		54858833	-1	no_errors	ENST00000548538	ensembl	human	known	70_37	rna	SNP	0.009	C
GUCY1A2	2977	genome.wustl.edu	37	11	106810318	106810318	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:106810318G>A	ENST00000526355.2	-	4	1542	c.1074C>T	c.(1072-1074)ctC>ctT	p.L358L	GUCY1A2_ENST00000347596.2_Silent_p.L358L|GUCY1A2_ENST00000282249.2_Silent_p.L358L	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2	358					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|positive regulation of cGMP biosynthetic process (GO:0030828)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|heme binding (GO:0020037)			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)	Isosorbide Mononitrate(DB01020)|Nitric Oxide(DB00435)	CCTCAAACTTGAGCACTTTGT	0.488																																																	0													94.0	86.0	89.0					11																	106810318		2201	4298	6499	SO:0001819	synonymous_variant	2977			X63282	CCDS8335.1, CCDS58170.1	11q21-q22	2008-03-18			ENSG00000152402	ENSG00000152402	4.6.1.2		4684	protein-coding gene	gene with protein product		601244		GUC1A2		1683630	Standard	NM_000855		Approved	GC-SA2	uc001pjg.2	P33402	OTTHUMG00000166296	ENST00000526355.2:c.1074C>T	11.37:g.106810318G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4C4|B7ZLT5	Silent	SNP	pfam_Haem_no_assoc-bd,pfam_A/G_cyclase,pfam_Heme_NO-bd,superfamily_A/G_cyclase,superfamily_NO_sig/Golgi_transp_ligand-bd,smart_A/G_cyclase,pfscan_A/G_cyclase	p.L358	ENST00000526355.2	37	c.1074	CCDS8335.1	11																																																																																			GUCY1A2	-	pfam_Haem_no_assoc-bd		0.488	GUCY1A2-001	KNOWN	basic|CCDS	protein_coding	GUCY1A2	HGNC	protein_coding	OTTHUMT00000389003.2	G			106810318	-1	no_errors	ENST00000282249	ensembl	human	known	70_37	silent	SNP	1.000	A
GUCY2D	3000	genome.wustl.edu	37	17	7917302	7917302	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:7917302G>C	ENST00000254854.4	+	12	2518	c.2368G>C	c.(2368-2370)Gag>Cag	p.E790Q		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	790	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)			skin(1)	1		Prostate(122;0.157)				GTGCTGGGCAGAGCAGCCGGA	0.647																																																	0													86.0	85.0	85.0					17																	7917302		2203	4300	6503	SO:0001583	missense	3000			L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.2368G>C	17.37:g.7917302G>C	ENSP00000254854:p.Glu790Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6LEA7	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Haem_no_assoc-bd,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase	p.E790Q	ENST00000254854.4	37	c.2368	CCDS11127.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.103614	0.94245	.	.	ENSG00000132518	ENST00000254854	T	0.62364	0.03	5.44	5.44	0.79542	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.53938	D	0.000057	T	0.79673	0.4486	M	0.75615	2.305	0.48511	D	0.999663	D	0.89917	1.0	D	0.97110	1.0	T	0.79967	-0.1580	10	0.56958	D	0.05	.	18.2031	0.89846	0.0:0.0:1.0:0.0	.	790	Q02846	GUC2D_HUMAN	Q	790	ENSP00000254854:E790Q	ENSP00000254854:E790Q	E	+	1	0	GUCY2D	7858027	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	7.347000	0.79356	2.837000	0.97791	0.655000	0.94253	GAG	GUCY2D	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.647	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GUCY2D	HGNC	protein_coding	OTTHUMT00000226973.2	G			7917302	+1	no_errors	ENST00000254854	ensembl	human	known	70_37	missense	SNP	1.000	C
GYS1	2997	genome.wustl.edu	37	19	49481228	49481228	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:49481228C>G	ENST00000323798.3	-	10	1457	c.1261G>C	c.(1261-1263)Gat>Cat	p.D421H	GYS1_ENST00000540532.1_3'UTR|GYS1_ENST00000541188.1_Missense_Mutation_p.D341H|GYS1_ENST00000263276.6_Missense_Mutation_p.D357H|GYS1_ENST00000544287.1_Missense_Mutation_p.D54H	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	421					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|heart development (GO:0007507)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|inclusion body (GO:0016234)|membrane (GO:0016020)	glucose binding (GO:0005536)|glycogen (starch) synthase activity (GO:0004373)|glycogen synthase activity, transferring glucose-1-phosphate (GO:0061547)|protein kinase binding (GO:0019901)			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		TCTTCCTTATCCAGCATCTTG	0.537																																																	0													161.0	123.0	136.0					19																	49481228		2203	4300	6503	SO:0001583	missense	2997				CCDS12747.1, CCDS54292.1	19q13.3	2013-02-22			ENSG00000104812	ENSG00000104812	2.4.1.11	"""Glycosyltransferase group 1 domain containing"""	4706	protein-coding gene	gene with protein product		138570		GYS			Standard	NM_002103		Approved	GSY	uc002plp.3	P13807	OTTHUMG00000150723	ENST00000323798.3:c.1261G>C	19.37:g.49481228C>G	ENSP00000317904:p.Asp421His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTT9	Missense_Mutation	SNP	pfam_Glycogen_synth,pfam_Glyco_trans_1,pfam_Starch_synth_cat_dom	p.D421H	ENST00000323798.3	37	c.1261	CCDS12747.1	19	.	.	.	.	.	.	.	.	.	.	C	24.1	4.491729	0.84962	.	.	ENSG00000104812	ENST00000323798;ENST00000263276;ENST00000541188;ENST00000544287	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	5.22	5.22	0.72569	.	0.044796	0.85682	D	0.000000	T	0.69984	0.3172	L	0.29908	0.895	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.97110	1.0;0.939;0.995	T	0.69335	-0.5172	10	0.45353	T	0.12	-35.2094	17.0837	0.86605	0.0:1.0:0.0:0.0	.	341;357;421	B7Z806;Q9BTT9;P13807	.;.;GYS1_HUMAN	H	421;357;341;54	ENSP00000317904:D421H;ENSP00000263276:D357H;ENSP00000437922:D341H;ENSP00000444004:D54H	ENSP00000263276:D357H	D	-	1	0	GYS1	54173040	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.556000	0.82233	2.826000	0.97356	0.491000	0.48974	GAT	GYS1	-	pfam_Glycogen_synth		0.537	GYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GYS1	HGNC	protein_coding	OTTHUMT00000319791.1	C	NM_002103		49481228	-1	no_errors	ENST00000323798	ensembl	human	known	70_37	missense	SNP	1.000	G
HDGF	3068	genome.wustl.edu	37	1	156721268	156721268	+	5'UTR	SNP	G	G	T	rs547861757		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:156721268G>T	ENST00000357325.5	-	0	268				HDGF_ENST00000368206.5_Intron|HDGF_ENST00000368209.5_Intron|HDGF_ENST00000465180.1_Intron|HDGF_ENST00000416666.2_5'Flank|PRCC_ENST00000491853.1_Intron|HDGF_ENST00000537739.1_5'UTR	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		cgggAAGCGCGAGCCCAAGTT	0.786																																																	0													8.0	9.0	9.0					1																	156721268		2147	4078	6225	SO:0001623	5_prime_UTR_variant	3068			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.-47C>A	1.37:g.156721268G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	RNA	SNP	-	NULL	ENST00000357325.5	37	NULL	CCDS1156.1	1																																																																																			HDGF	-	-		0.786	HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDGF	HGNC	protein_coding	OTTHUMT00000098946.1	G	NM_004494		156721268	-1	no_errors	ENST00000469145	ensembl	human	known	70_37	rna	SNP	1.000	T
HDHD1	8226	genome.wustl.edu	37	X	6995411	6995411	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:6995411G>A	ENST00000381077.5	-	3	436	c.360C>T	c.(358-360)ttC>ttT	p.F120F	HDHD1_ENST00000424830.2_Silent_p.F143F|HDHD1_ENST00000540122.1_Silent_p.F120F|HDHD1_ENST00000412827.2_Silent_p.F77F	NM_001178136.1|NM_012080.4	NP_001171607.1|NP_036212.3	Q08623	HDHD1_HUMAN	haloacid dehalogenase-like hydrolase domain containing 1	120					nucleotide metabolic process (GO:0009117)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|phosphatase activity (GO:0016791)			breast(2)|large_intestine(1)|lung(3)	6						TCTTCATATCGAACGACGCGG	0.587																																																	0													42.0	44.0	43.0					X																	6995411		2056	4175	6231	SO:0001819	synonymous_variant	8226			M86934	CCDS48075.1, CCDS48076.1, CCDS55366.1, CCDS55367.1	Xp22.32	2010-07-21	2010-07-21	2010-07-21	ENSG00000130021	ENSG00000130021			16818	protein-coding gene	gene with protein product		306480	"""family with sequence similarity 16, member A, X-linked"", ""haloacid dehalogenase-like hydrolase domain containing 1A"""	FAM16AX, HDHD1A		1734713, 1284467	Standard	NM_012080		Approved	DXF68S1E, GS1	uc011mhm.1	Q08623	OTTHUMG00000021101	ENST00000381077.5:c.360C>T	X.37:g.6995411G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7X6|B4DV93|B7Z6Q3|E9PAV8|F5GWZ2|Q53F84|Q96EB8	Silent	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3	p.F143	ENST00000381077.5	37	c.429	CCDS48075.1	X																																																																																			HDHD1	-	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,tigrfam_HAD-SF_hydro_IA_v3		0.587	HDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDHD1	HGNC	protein_coding	OTTHUMT00000055683.2	G	NM_012080		6995411	-1	no_errors	ENST00000424830	ensembl	human	known	70_37	silent	SNP	0.623	A
HEATR1	55127	genome.wustl.edu	37	1	236746396	236746396	+	Missense_Mutation	SNP	A	A	T	rs528453790		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:236746396A>T	ENST00000366582.3	-	18	2456	c.2342T>A	c.(2341-2343)gTg>gAg	p.V781E	HEATR1_ENST00000366581.2_Missense_Mutation_p.V781E	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	781					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTCCACGGCCACCCTCTGAGT	0.433																																																	0													154.0	149.0	151.0					1																	236746396		2203	4300	6503	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.2342T>A	1.37:g.236746396A>T	ENSP00000355541:p.Val781Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.V781E	ENST00000366582.3	37	c.2342	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	A	8.202	0.798298	0.16397	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.05855	3.41;3.38	5.56	5.56	0.83823	Armadillo-type fold (1);	0.971832	0.08500	N	0.936649	T	0.07188	0.0182	L	0.43152	1.355	0.09310	N	0.999996	B;B	0.32693	0.38;0.059	B;B	0.25759	0.063;0.022	T	0.29518	-1.0009	10	0.72032	D	0.01	.	7.9118	0.29796	0.8022:0.0:0.1978:0.0	.	781;781	Q5T3Q7;Q9H583	.;HEAT1_HUMAN	E	781	ENSP00000355541:V781E;ENSP00000355540:V781E	ENSP00000355540:V781E	V	-	2	0	HEATR1	234813019	0.007000	0.16637	0.044000	0.18714	0.010000	0.07245	2.201000	0.42734	2.107000	0.64212	0.533000	0.62120	GTG	HEATR1	-	superfamily_ARM-type_fold		0.433	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	A	XM_375853		236746396	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	0.005	T
HEATR1	55127	genome.wustl.edu	37	1	236755358	236755358	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:236755358C>A	ENST00000366582.3	-	11	1471	c.1357G>T	c.(1357-1359)Gat>Tat	p.D453Y	HEATR1_ENST00000366581.2_Missense_Mutation_p.D453Y	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	453					rRNA processing (GO:0006364)	membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)	p.D453N(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TTTTTCAGATCTGCAATTTCC	0.318																																																	1	Substitution - Missense(1)	skin(1)											114.0	116.0	115.0					1																	236755358		2203	4299	6502	SO:0001583	missense	55127			BC065205	CCDS31066.1	1q43	2011-08-12			ENSG00000119285	ENSG00000119285			25517	protein-coding gene	gene with protein product	"""UTP10, small subunit (SSU) processome component, homolog (yeast)"""					17699751	Standard	NM_018072		Approved	FLJ10359, BAP28, UTP10	uc001hyd.2	Q9H583	OTTHUMG00000040061	ENST00000366582.3:c.1357G>T	1.37:g.236755358C>A	ENSP00000355541:p.Asp453Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3Q8|Q6P197|Q9NW23	Missense_Mutation	SNP	pfam_BP28_C_dom,pfam_U3snoRNP10,superfamily_ARM-type_fold	p.D453Y	ENST00000366582.3	37	c.1357	CCDS31066.1	1	.	.	.	.	.	.	.	.	.	.	C	13.72	2.320365	0.41096	.	.	ENSG00000119285	ENST00000366582;ENST00000366581	T;T	0.69040	-0.37;3.37	5.27	3.32	0.38043	Armadillo-type fold (1);	0.460702	0.23979	N	0.042684	T	0.64000	0.2559	L	0.59436	1.845	0.19775	N	0.999958	P	0.40875	0.731	B	0.44085	0.44	T	0.58370	-0.7648	10	0.72032	D	0.01	.	7.7246	0.28753	0.1335:0.7242:0.0:0.1423	.	453	Q9H583	HEAT1_HUMAN	Y	453	ENSP00000355541:D453Y;ENSP00000355540:D453Y	ENSP00000355540:D453Y	D	-	1	0	HEATR1	234821981	0.640000	0.27243	0.803000	0.32268	0.646000	0.38490	0.362000	0.20284	0.657000	0.30906	0.650000	0.86243	GAT	HEATR1	-	superfamily_ARM-type_fold		0.318	HEATR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEATR1	HGNC	protein_coding	OTTHUMT00000096635.1	C	XM_375853		236755358	-1	no_errors	ENST00000366582	ensembl	human	known	70_37	missense	SNP	0.108	A
HECTD1	25831	genome.wustl.edu	37	14	31598191	31598191	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:31598191C>T	ENST00000399332.1	-	25	4874	c.4386G>A	c.(4384-4386)agG>agA	p.R1462R	HECTD1_ENST00000553700.1_Silent_p.R1462R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1462	Ser-rich.				neural tube closure (GO:0001843)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GGCCTAACTTCCTTTCAGCAT	0.458																																																	0													138.0	127.0	130.0					14																	31598191		1929	4137	6066	SO:0001819	synonymous_variant	25831			AB032957	CCDS41939.1	14q12	2013-01-10	2012-02-23		ENSG00000092148	ENSG00000092148		"""Ankyrin repeat domain containing"""	20157	protein-coding gene	gene with protein product			"""HECT domain containing 1"""			10574461	Standard	XM_005267502		Approved	KIAA1131	uc001wrc.1	Q9ULT8	OTTHUMG00000170670	ENST00000399332.1:c.4386G>A	14.37:g.31598191C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS86|Q6P445|Q86VJ1|Q96F34|Q9UFZ7	Silent	SNP	pfam_HECT,pfam_Sad1_UNC_C,pfam_Mib_Herc2,pfam_Ankyrin_rpt,superfamily_HECT,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,superfamily_Galactose-bd-like,smart_Ankyrin_rpt,smart_HECT,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_HECT	p.R1462	ENST00000399332.1	37	c.4386	CCDS41939.1	14																																																																																			HECTD1	-	NULL		0.458	HECTD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD1	HGNC	protein_coding	OTTHUMT00000409942.1	C			31598191	-1	no_errors	ENST00000399332	ensembl	human	known	70_37	silent	SNP	1.000	T
HEATR4	399671	genome.wustl.edu	37	14	73969681	73969681	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:73969681C>T	ENST00000553558.1	-	11	2344	c.2023G>A	c.(2023-2025)Gac>Aac	p.D675N	HEATR4_ENST00000560393.1_Missense_Mutation_p.D628N|HEATR4_ENST00000334988.2_Missense_Mutation_p.D675N	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4	675										breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		TTATTCCAGTCATTCCACATC	0.428																																																	0													130.0	114.0	120.0					14																	73969681		2203	4300	6503	SO:0001583	missense	399671			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2023G>A	14.37:g.73969681C>T	ENSP00000450444:p.Asp675Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7V9|E9KL41	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold	p.D675N	ENST00000553558.1	37	c.2023	CCDS9815.2	14	.	.	.	.	.	.	.	.	.	.	C	25.0	4.589637	0.86851	.	.	ENSG00000187105	ENST00000553558;ENST00000334988	T	0.17528	2.27	5.33	5.33	0.75918	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.53938	D	0.000041	T	0.38374	0.1038	L	0.55481	1.735	0.40723	D	0.98267	D	0.89917	1.0	D	0.87578	0.998	T	0.14671	-1.0464	10	0.87932	D	0	-15.0978	15.9376	0.79723	0.0:1.0:0.0:0.0	.	675	Q86WZ0	HEAT4_HUMAN	N	675;628	ENSP00000450444:D675N	ENSP00000335447:D628N	D	-	1	0	HEATR4	73039434	0.997000	0.39634	0.998000	0.56505	0.884000	0.51177	4.690000	0.61731	2.493000	0.84123	0.455000	0.32223	GAC	HEATR4	-	superfamily_ARM-type_fold		0.428	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEATR4	HGNC	protein_coding	OTTHUMT00000414422.2	C	NM_203309		73969681	-1	no_errors	ENST00000334988	ensembl	human	known	70_37	missense	SNP	0.998	T
HECTD2	143279	genome.wustl.edu	37	10	93261075	93261075	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:93261075G>A	ENST00000298068.5	+	20	2288	c.2194G>A	c.(2194-2196)Gaa>Aaa	p.E732K	HECTD2_ENST00000371667.1_Missense_Mutation_p.E382K|HECTD2_ENST00000536715.1_Missense_Mutation_p.E321K|HECTD2_ENST00000446394.1_Missense_Mutation_p.E736K	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	732	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CTCAAAGAATGAAACTTCTAC	0.333																																					NSCLC(12;376 469 1699 39910 41417)												0													87.0	89.0	88.0					10																	93261075		2203	4300	6503	SO:0001583	missense	143279			AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.2194G>A	10.37:g.93261075G>A	ENSP00000298068:p.Glu732Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	p.E736K	ENST00000298068.5	37	c.2206	CCDS7414.1	10	.	.	.	.	.	.	.	.	.	.	G	15.81	2.943659	0.53079	.	.	ENSG00000165338	ENST00000446394;ENST00000298068;ENST00000536715;ENST00000371667	T;T;T;T	0.57436	0.4;0.4;0.4;0.4	5.73	5.73	0.89815	HECT (4);	0.051290	0.85682	D	0.000000	T	0.45577	0.1349	L	0.37800	1.135	0.53688	D	0.999976	B;B	0.24317	0.009;0.101	B;B	0.28916	0.044;0.096	T	0.32402	-0.9908	10	0.11794	T	0.64	.	18.0766	0.89428	0.0:0.0:1.0:0.0	.	736;732	E7ERR3;Q5U5R9	.;HECD2_HUMAN	K	736;732;321;382	ENSP00000401023:E736K;ENSP00000298068:E732K;ENSP00000439687:E321K;ENSP00000360731:E382K	ENSP00000298068:E732K	E	+	1	0	HECTD2	93251055	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.114000	0.94329	2.699000	0.92147	0.655000	0.94253	GAA	HECTD2	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.333	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD2	HGNC	protein_coding	OTTHUMT00000098620.1	G			93261075	+1	no_errors	ENST00000446394	ensembl	human	known	70_37	missense	SNP	1.000	A
HECTD3	79654	genome.wustl.edu	37	1	45469601	45469601	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45469601C>T	ENST00000372172.4	-	19	2426	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Silent_p.R395R	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	785	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGAAGCGGCTCCGGTCCTCTG	0.602																																																	0													45.0	54.0	51.0					1																	45469601		2068	4181	6249	SO:0001819	synonymous_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2355G>A	1.37:g.45469601C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.R785	ENST00000372172.4	37	c.2355	CCDS41318.1	1																																																																																			HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.602	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45469601	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	silent	SNP	0.999	T
HECTD3	79654	genome.wustl.edu	37	1	45469798	45469798	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45469798C>G	ENST00000372172.4	-	18	2352	c.2281G>C	c.(2281-2283)Gag>Cag	p.E761Q	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.E371Q	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	761	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCGAAGTCCTCAAACCGGGCT	0.587																																																	0													97.0	107.0	103.0					1																	45469798		2105	4230	6335	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2281G>C	1.37:g.45469798C>G	ENSP00000361245:p.Glu761Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.E761Q	ENST00000372172.4	37	c.2281	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	.	28.0	4.884699	0.91814	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.43294	0.95;0.95	5.65	4.69	0.59074	HECT (4);	0.205884	0.50627	D	0.000103	T	0.50463	0.1617	L	0.49640	1.575	0.52501	D	0.999954	P;B	0.52577	0.954;0.225	P;B	0.54060	0.741;0.095	T	0.43245	-0.9403	10	0.39692	T	0.17	.	15.3978	0.74812	0.1398:0.8602:0.0:0.0	.	761;371	Q5T447;Q5T447-2	HECD3_HUMAN;.	Q	761;371	ENSP00000361245:E761Q;ENSP00000361241:E371Q	ENSP00000361241:E371Q	E	-	1	0	HECTD3	45242385	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.218000	0.58554	2.658000	0.90341	0.551000	0.68910	GAG	HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.587	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45469798	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	missense	SNP	1.000	G
HECTD3	79654	genome.wustl.edu	37	1	45469950	45469950	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45469950C>G	ENST00000372172.4	-	17	2313	c.2242G>C	c.(2242-2244)Gag>Cag	p.E748Q	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.E358Q	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	748	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					ACAGTGACCTCTGGATCCCCA	0.607																																																	0													98.0	101.0	100.0					1																	45469950		2121	4265	6386	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2242G>C	1.37:g.45469950C>G	ENSP00000361245:p.Glu748Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.E748Q	ENST00000372172.4	37	c.2242	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	.	34	5.361022	0.95877	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.59502	0.26;0.26	5.78	5.78	0.91487	HECT (4);	0.045065	0.85682	D	0.000000	T	0.74535	0.3729	M	0.78223	2.4	0.80722	D	1	P;D	0.63880	0.924;0.993	P;P	0.56865	0.784;0.808	T	0.76958	-0.2766	10	0.72032	D	0.01	.	20.0223	0.97509	0.0:1.0:0.0:0.0	.	748;358	Q5T447;Q5T447-2	HECD3_HUMAN;.	Q	748;358	ENSP00000361245:E748Q;ENSP00000361241:E358Q	ENSP00000361241:E358Q	E	-	1	0	HECTD3	45242537	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.788000	0.62439	2.726000	0.93360	0.643000	0.83706	GAG	HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.607	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45469950	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	missense	SNP	1.000	G
HECTD3	79654	genome.wustl.edu	37	1	45470392	45470392	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45470392C>T	ENST00000372172.4	-	16	2093	c.2022G>A	c.(2020-2022)ctG>ctA	p.L674L	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Silent_p.L284L	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	674	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GTTGGTCACTCAGTACAGTGG	0.537																																																	0													173.0	173.0	173.0					1																	45470392		2053	4180	6233	SO:0001819	synonymous_variant	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.2022G>A	1.37:g.45470392C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPV7|B3KRH4|Q5T448|Q9H783	Silent	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.L674	ENST00000372172.4	37	c.2022	CCDS41318.1	1																																																																																			HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.537	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45470392	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	silent	SNP	0.999	T
HECTD3	79654	genome.wustl.edu	37	1	45470457	45470457	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45470457C>G	ENST00000372172.4	-	16	2028	c.1957G>C	c.(1957-1959)Gaa>Caa	p.E653Q	HECTD3_ENST00000486132.1_5'UTR|HECTD3_ENST00000372168.3_Missense_Mutation_p.E263Q	NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	653	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					TCCATTCCTTCCATCACTTCC	0.517																																																	0													136.0	135.0	135.0					1																	45470457		2009	4170	6179	SO:0001583	missense	79654			BC019105	CCDS41318.1	1p34.1	2012-02-23	2012-02-23		ENSG00000126107	ENSG00000126107			26117	protein-coding gene	gene with protein product			"""HECT domain containing 3"""			12477932	Standard	NM_024602		Approved	FLJ21156	uc009vxk.3	Q5T447	OTTHUMG00000008587	ENST00000372172.4:c.1957G>C	1.37:g.45470457C>G	ENSP00000361245:p.Glu653Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPV7|B3KRH4|Q5T448|Q9H783	Missense_Mutation	SNP	pfam_HECT,pfam_APC_su10/DOC_dom,superfamily_HECT,superfamily_Galactose-bd-like,smart_HECT,pfscan_HECT	p.E653Q	ENST00000372172.4	37	c.1957	CCDS41318.1	1	.	.	.	.	.	.	.	.	.	.	.	27.5	4.833627	0.91036	.	.	ENSG00000126107	ENST00000372172;ENST00000372168	T;T	0.55930	0.49;0.49	4.88	4.88	0.63580	HECT (4);	0.167742	0.52532	D	0.000068	T	0.67392	0.2888	M	0.78801	2.425	0.80722	D	1	P;D	0.56746	0.924;0.977	P;P	0.55923	0.784;0.787	T	0.65138	-0.6241	10	0.22109	T	0.4	.	18.2056	0.89853	0.0:1.0:0.0:0.0	.	653;263	Q5T447;Q5T447-2	HECD3_HUMAN;.	Q	653;263	ENSP00000361245:E653Q;ENSP00000361241:E263Q	ENSP00000361241:E263Q	E	-	1	0	HECTD3	45243044	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.272000	0.78516	2.539000	0.85634	0.561000	0.74099	GAA	HECTD3	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.517	HECTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HECTD3	HGNC	protein_coding	OTTHUMT00000023734.1	C	NM_024602		45470457	-1	no_errors	ENST00000372172	ensembl	human	known	70_37	missense	SNP	1.000	G
HELQ	113510	genome.wustl.edu	37	4	84350794	84350794	+	Missense_Mutation	SNP	C	C	T	rs375130293		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:84350794C>T	ENST00000295488.3	-	12	2563	c.2401G>A	c.(2401-2403)Gaa>Aaa	p.E801K	HELQ_ENST00000510985.1_Missense_Mutation_p.E734K	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	801					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						CTAAGTGATTCAACAGTTATT	0.318								Other identified genes with known or suspected DNA repair function																																									0													75.0	72.0	73.0					4																	84350794		2201	4298	6499	SO:0001583	missense	113510			AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2401G>A	4.37:g.84350794C>T	ENSP00000295488:p.Glu801Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E801K	ENST00000295488.3	37	c.2401	CCDS3603.1	4	.	.	.	.	.	.	.	.	.	.	C	8.243	0.807186	0.16467	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.42513	0.97;0.97	5.22	4.18	0.49190	.	0.457213	0.24398	N	0.038877	T	0.30324	0.0761	N	0.24115	0.695	0.24015	N	0.996167	B;B	0.10296	0.003;0.001	B;B	0.11329	0.006;0.004	T	0.14200	-1.0481	10	0.34782	T	0.22	-4.7878	14.6713	0.68945	0.0:0.9171:0.0:0.0829	.	734;801	E3W980;Q8TDG4	.;HELQ_HUMAN	K	801;734	ENSP00000295488:E801K;ENSP00000424539:E734K	ENSP00000295488:E801K	E	-	1	0	HELQ	84569818	0.997000	0.39634	0.506000	0.27664	0.251000	0.25915	3.987000	0.56944	2.420000	0.82092	0.467000	0.42956	GAA	HELQ	-	NULL		0.318	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HELQ	HGNC	protein_coding	OTTHUMT00000252810.1	C	NM_133636		84350794	-1	no_errors	ENST00000295488	ensembl	human	known	70_37	missense	SNP	0.319	T
HEMK1	51409	genome.wustl.edu	37	3	50614558	50614558	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:50614558C>G	ENST00000232854.4	+	5	1042	c.490C>G	c.(490-492)Ctg>Gtg	p.L164V	HEMK1_ENST00000434410.1_Missense_Mutation_p.L164V|HEMK1_ENST00000455834.1_Missense_Mutation_p.L164V	NM_016173.3	NP_057257.1	Q9Y5R4	HEMK1_HUMAN	HemK methyltransferase family member 1	164					DNA methylation (GO:0006306)	mitochondrion (GO:0005739)	DNA binding (GO:0003677)|N-methyltransferase activity (GO:0008170)|protein methyltransferase activity (GO:0008276)			lung(3)	3				BRCA - Breast invasive adenocarcinoma(193;0.000283)|KIRC - Kidney renal clear cell carcinoma(197;0.0179)|Kidney(197;0.0212)		CCCCCTCATTCTGGAGGTGGG	0.622																																																	0													63.0	67.0	66.0					3																	50614558		2203	4300	6503	SO:0001583	missense	51409			AF172244	CCDS2830.1	3p21	2008-02-05			ENSG00000114735	ENSG00000114735			24923	protein-coding gene	gene with protein product						10690633	Standard	XM_005265218		Approved	MTQ1	uc003dav.3	Q9Y5R4	OTTHUMG00000156849	ENST00000232854.4:c.490C>G	3.37:g.50614558C>G	ENSP00000232854:p.Leu164Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Small_mtfrase_dom,pfam_RNA_methylase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,prints_D21N6_MeTrfase,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK	p.L164V	ENST00000232854.4	37	c.490	CCDS2830.1	3	.	.	.	.	.	.	.	.	.	.	C	17.00	3.276507	0.59649	.	.	ENSG00000114735	ENST00000434410;ENST00000232854;ENST00000455834;ENST00000443894	T;T;T;T	0.72835	1.49;1.49;1.49;-0.69	5.06	2.32	0.28847	Methyltransferase small (1);	0.000000	0.64402	D	0.000001	T	0.77538	0.4145	M	0.64080	1.96	0.45946	D	0.99877	D	0.71674	0.998	D	0.79108	0.992	T	0.73319	-0.4020	10	0.45353	T	0.12	-10.0233	6.8521	0.24020	0.0:0.7146:0.0:0.2854	.	164	Q9Y5R4	HEMK1_HUMAN	V	164;164;164;2	ENSP00000404843:L164V;ENSP00000232854:L164V;ENSP00000404334:L164V;ENSP00000404168:L2V	ENSP00000232854:L164V	L	+	1	2	HEMK1	50589562	1.000000	0.71417	1.000000	0.80357	0.830000	0.47004	1.337000	0.33862	0.321000	0.23259	0.655000	0.94253	CTG	HEMK1	-	pfam_Small_mtfrase_dom,pfam_Ribosomal-L11_MeTrfase_PrmA,pfam_RNA_MeTrfase_RsmD,pfam_Methyltransf_11,tigrfam_Release_fac_Glu-N5_MeTfrase,tigrfam_Modification_methylase_HemK		0.622	HEMK1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HEMK1	HGNC	protein_coding	OTTHUMT00000346231.1	C	NM_016173		50614558	+1	no_errors	ENST00000232854	ensembl	human	known	70_37	missense	SNP	1.000	G
HERC2P2	400322	genome.wustl.edu	37	15	23326292	23326292	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:23326292C>G	ENST00000560464.1	-	0	2011									hect domain and RLD 2 pseudogene 2																		TCGATTCCCTCAGGAATAAGT	0.368																																																	0																																												400322			AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23326292C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000560464.1	37	NULL		15	.	.	.	.	.	.	.	.	.	.	C	2.121	-0.401506	0.04865	.	.	ENSG00000140181	ENST00000454333;ENST00000422607	.	.	.	2.5	2.5	0.30297	.	.	.	.	.	T	0.61986	0.2391	.	.	.	.	.	.	D	0.63880	0.993	P	0.58520	0.84	T	0.70403	-0.4881	6	0.35671	T	0.21	.	11.9569	0.52986	0.0:1.0:0.0:0.0	.	278	E7EMG2	.	Q	95;278	.	ENSP00000400381:E278Q	E	-	1	0	AC091565.1	20877733	1.000000	0.71417	0.998000	0.56505	0.141000	0.21300	5.294000	0.65687	1.389000	0.46526	0.184000	0.17185	GAG	HERC2P2	-	-		0.368	HERC2P2-001	KNOWN	basic	processed_transcript	HERC2P2	HGNC	pseudogene	OTTHUMT00000415936.1	C			23326292	-1	no_errors	ENST00000560464	ensembl	human	known	70_37	rna	SNP	1.000	G
HERC5	51191	genome.wustl.edu	37	4	89425707	89425707	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:89425707C>G	ENST00000264350.3	+	22	2981	c.2828C>G	c.(2827-2829)gCt>gGt	p.A943G	HERC5_ENST00000508159.1_Missense_Mutation_p.A581G	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	943	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTTTGGAAGGCTTTCCACAAA	0.318																																					Esophageal Squamous(39;887 1012 34045 50514)												0													73.0	73.0	73.0					4																	89425707		2203	4300	6503	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2828C>G	4.37:g.89425707C>G	ENSP00000264350:p.Ala943Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.A943G	ENST00000264350.3	37	c.2828	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854922	0.32791	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.59224	0.28;0.28	4.62	3.76	0.43208	HECT (4);	0.140066	0.30311	N	0.009908	T	0.76190	0.3953	M	0.85859	2.78	0.25206	N	0.990013	D	0.76494	0.999	D	0.77557	0.99	T	0.69258	-0.5192	10	0.87932	D	0	.	11.7873	0.52049	0.177:0.823:0.0:0.0	.	943	Q9UII4	HERC5_HUMAN	G	943;581	ENSP00000264350:A943G;ENSP00000424129:A581G	ENSP00000264350:A943G	A	+	2	0	HERC5	89644730	1.000000	0.71417	0.962000	0.40283	0.006000	0.05464	3.463000	0.53050	1.152000	0.42452	-0.182000	0.12963	GCT	HERC5	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.318	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	C	NM_016323		89425707	+1	no_errors	ENST00000264350	ensembl	human	known	70_37	missense	SNP	0.989	G
HERPUD2	64224	genome.wustl.edu	37	7	35674821	35674821	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:35674821G>A	ENST00000396081.1	-	6	1669	c.865C>T	c.(865-867)Ctc>Ttc	p.L289F	HERPUD2_ENST00000311350.3_Missense_Mutation_p.L289F|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	289					response to unfolded protein (GO:0006986)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						ATGCTAAGGAGAATCGCAGCT	0.398																																																	0													175.0	155.0	162.0					7																	35674821		2203	4300	6503	SO:0001583	missense	64224			BC020264	CCDS5446.1	7p14.2	2006-03-20	2006-03-20		ENSG00000122557	ENSG00000122557			21915	protein-coding gene	gene with protein product	"""homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 2"""						Standard	NM_022373		Approved	FLJ22313	uc003tes.4	Q9BSE4	OTTHUMG00000128687	ENST00000396081.1:c.865C>T	7.37:g.35674821G>A	ENSP00000379390:p.Leu289Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1Y8|Q9H6F9	Missense_Mutation	SNP	pfam_Ubiquitin,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	p.L289F	ENST00000396081.1	37	c.865	CCDS5446.1	7	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569623	0.45798	.	.	ENSG00000122557	ENST00000396081;ENST00000311350	T;T	0.20463	2.07;2.07	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.29684	0.0741	N	0.17723	0.515	0.80722	D	1	D	0.67145	0.996	D	0.66497	0.944	T	0.02444	-1.1158	10	0.08599	T	0.76	-18.5318	20.422	0.99049	0.0:0.0:1.0:0.0	.	289	Q9BSE4	HERP2_HUMAN	F	289	ENSP00000379390:L289F;ENSP00000310729:L289F	ENSP00000310729:L289F	L	-	1	0	HERPUD2	35641346	1.000000	0.71417	0.994000	0.49952	0.997000	0.91878	5.706000	0.68362	2.832000	0.97577	0.655000	0.94253	CTC	HERPUD2	-	NULL		0.398	HERPUD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERPUD2	HGNC	protein_coding	OTTHUMT00000250584.1	G	NM_022373		35674821	-1	no_errors	ENST00000311350	ensembl	human	known	70_37	missense	SNP	1.000	A
HEXIM1	10614	genome.wustl.edu	37	17	43226681	43226681	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:43226681G>C	ENST00000332499.2	+	1	1998	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	AC002117.1_ENST00000452741.1_RNA|AC002117.1_ENST00000589950.1_RNA	NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	42					heart development (GO:0007507)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|snRNA binding (GO:0017069)			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCGGGTGCCCGAGGAGGACAG	0.642											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													52.0	57.0	56.0					17																	43226681		2203	4300	6503	SO:0001583	missense	10614			AB021179	CCDS11495.1	17q21.31	2006-03-28				ENSG00000186834			24953	protein-coding gene	gene with protein product		607328				12119119, 12832472	Standard	NM_006460		Approved	CLP-1, HIS1, MAQ1, EDG1	uc002iig.3	O94992		ENST00000332499.2:c.124G>C	17.37:g.43226681G>C	ENSP00000328773:p.Glu42Gln	Somatic	914	WXS	Illumina HiSeq	Phase_IV	B2R8Y5	Missense_Mutation	SNP	NULL	p.E42Q	ENST00000332499.2	37	c.124	CCDS11495.1	17	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517880	0.27211	.	.	ENSG00000186834	ENST00000332499	.	.	.	4.25	0.363	0.16118	.	1.606800	0.04252	N	0.338867	T	0.27027	0.0662	N	0.22421	0.69	0.24885	N	0.992201	B	0.09022	0.002	B	0.09377	0.004	T	0.13415	-1.0510	9	0.27082	T	0.32	-3.2331	3.5461	0.07829	0.3026:0.1999:0.4975:0.0	.	42	O94992	HEXI1_HUMAN	Q	42	.	ENSP00000328773:E42Q	E	+	1	0	HEXIM1	40582464	0.959000	0.32827	0.965000	0.40720	0.984000	0.73092	0.693000	0.25497	-0.064000	0.13043	0.561000	0.74099	GAG	HEXIM1	-	NULL		0.642	HEXIM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HEXIM1	HGNC	protein_coding	OTTHUMT00000449821.2	G	NM_006460		43226681	+1	no_errors	ENST00000332499	ensembl	human	known	70_37	missense	SNP	0.984	C
HFM1	164045	genome.wustl.edu	37	1	91851329	91851329	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:91851329G>A	ENST00000370425.3	-	5	655	c.557C>T	c.(556-558)tCt>tTt	p.S186F	HFM1_ENST00000294696.5_5'UTR|HFM1_ENST00000370424.3_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	186					resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GCCAATGTGAGAGTCCAATTC	0.323																																																	0													88.0	86.0	87.0					1																	91851329		2203	4299	6502	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.557C>T	1.37:g.91851329G>A	ENSP00000359454:p.Ser186Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S186F	ENST00000370425.3	37	c.557	CCDS30769.2	1	.	.	.	.	.	.	.	.	.	.	G	8.718	0.913663	0.17907	.	.	ENSG00000162669	ENST00000370425;ENST00000541820;ENST00000448819;ENST00000427444	T;T	0.61742	0.08;1.2	5.82	2.52	0.30459	.	2.922300	0.04287	U	0.344821	T	0.17704	0.0425	N	0.24115	0.695	0.09310	N	0.999997	B;B	0.16166	0.016;0.006	B;B	0.12156	0.007;0.004	T	0.14227	-1.0480	10	0.09843	T	0.71	.	6.2557	0.20872	0.1977:0.0:0.6518:0.1505	.	186;186	B7ZM16;A2PYH4	.;HFM1_HUMAN	F	186;219;45;144	ENSP00000359454:S186F;ENSP00000388900:S144F	ENSP00000359454:S186F	S	-	2	0	HFM1	91623917	0.014000	0.17966	0.013000	0.15412	0.969000	0.65631	0.570000	0.23653	0.776000	0.33473	0.655000	0.94253	TCT	HFM1	-	NULL		0.323	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	G	NM_001017975		91851329	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	0.004	A
HGF	3082	genome.wustl.edu	37	7	81392151	81392151	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:81392151G>T	ENST00000222390.5	-	2	352	c.126C>A	c.(124-126)ttC>ttA	p.F42L	HGF_ENST00000453018.1_5'UTR|HGF_ENST00000457544.2_Missense_Mutation_p.F42L|HGF_ENST00000423064.2_Missense_Mutation_p.F42L|HGF_ENST00000354224.6_Missense_Mutation_p.F42L|HGF_ENST00000453411.1_Missense_Mutation_p.F42L|HGF_ENST00000444829.2_Missense_Mutation_p.F42L	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	42	PAN. {ECO:0000255|PROSITE- ProRule:PRU00315}.				activation of MAPK activity (GO:0000187)|blood coagulation (GO:0007596)|cell chemotaxis (GO:0060326)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epithelial to mesenchymal transition (GO:0001837)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|hyaluronan metabolic process (GO:0030212)|liver development (GO:0001889)|mitotic nuclear division (GO:0007067)|myoblast proliferation (GO:0051450)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of hydrogen peroxide-mediated programmed cell death (GO:1901299)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|organ regeneration (GO:0031100)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of cell migration (GO:0030335)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling (GO:0060665)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	catalytic activity (GO:0003824)|chemoattractant activity (GO:0042056)|growth factor activity (GO:0008083)|identical protein binding (GO:0042802)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						CTGATTTTTTGAATTCATGAA	0.284																																																	0													171.0	150.0	157.0					7																	81392151		2203	4299	6502	SO:0001583	missense	3082				CCDS5597.1, CCDS47626.1, CCDS47627.1, CCDS47628.1, CCDS47629.1	7q21.1	2009-09-11			ENSG00000019991	ENSG00000019991			4893	protein-coding gene	gene with protein product	"""hepatopoietin A"", ""fibroblast-derived tumor cytotoxic factor"", ""scatter factor"", ""lung fibroblast-derived mitogen"""	142409	"""deafness, autosomal recessive 39"""	DFNB39		1837206, 19576567	Standard	XM_006715956		Approved	SF, F-TCF, HGFB, HPTA	uc003uhl.3	P14210	OTTHUMG00000023804	ENST00000222390.5:c.126C>A	7.37:g.81392151G>T	ENSP00000222390:p.Phe42Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3U6|Q02935|Q13494|Q14519|Q3KRB2|Q8TCE2|Q9BYL9|Q9BYM0|Q9UDU6	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.F42L	ENST00000222390.5	37	c.126	CCDS5597.1	7	.	.	.	.	.	.	.	.	.	.	G	14.22	2.471117	0.43942	.	.	ENSG00000019991	ENST00000222390;ENST00000457544;ENST00000444829;ENST00000453411;ENST00000394769;ENST00000423064;ENST00000354224;ENST00000412881;ENST00000421558	T;T;T;T;T;T;T;T	0.75260	-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92;-0.92	5.87	1.93	0.25924	PAN-1 domain (1);Apple-like (2);	0.055520	0.64402	D	0.000001	T	0.75391	0.3843	L	0.51422	1.61	0.40078	D	0.976095	D;P;P;P;P	0.58268	0.982;0.773;0.773;0.735;0.776	P;B;B;B;B	0.55303	0.773;0.323;0.323;0.235;0.347	T	0.73167	-0.4068	10	0.51188	T	0.08	.	10.0027	0.41938	0.4147:0.0:0.5853:0.0	.	77;42;42;42;42	Q59H59;P14210-5;P14210-2;P14210-3;P14210	.;.;.;.;HGF_HUMAN	L	42	ENSP00000222390:F42L;ENSP00000391238:F42L;ENSP00000389854:F42L;ENSP00000408270:F42L;ENSP00000413829:F42L;ENSP00000346164:F42L;ENSP00000396307:F42L;ENSP00000388592:F42L	ENSP00000222390:F42L	F	-	3	2	HGF	81230087	1.000000	0.71417	0.999000	0.59377	0.958000	0.62258	1.006000	0.29847	0.066000	0.16515	-0.137000	0.14449	TTC	HGF	-	smart_Pan_app,pfscan_Pan_app		0.284	HGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGF	HGNC	protein_coding	OTTHUMT00000253315.2	G	NM_000601		81392151	-1	no_errors	ENST00000222390	ensembl	human	known	70_37	missense	SNP	0.998	T
HGS	9146	genome.wustl.edu	37	17	79660922	79660922	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:79660922C>T	ENST00000329138.4	+	11	998	c.863C>T	c.(862-864)tCg>tTg	p.S288L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	288	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACGTACACTTCGTACCCCAAG	0.672																																																	0													38.0	42.0	41.0					17																	79660922		2202	4300	6502	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.863C>T	17.37:g.79660922C>T	ENSP00000331201:p.Ser288Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NR36	Missense_Mutation	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.S288L	ENST00000329138.4	37	c.863	CCDS11784.1	17	.	.	.	.	.	.	.	.	.	.	C	8.513	0.867034	0.17250	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.38401	1.14	4.36	-1.04	0.10068	.	0.639817	0.15536	N	0.257217	T	0.12732	0.0309	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.27905	-1.0060	10	0.10111	T	0.7	-0.7425	4.0877	0.09955	0.0:0.2559:0.1942:0.5499	.	288	O14964	HGS_HUMAN	L	288	ENSP00000331201:S288L	ENSP00000331201:S288L	S	+	2	0	HGS	77271327	0.002000	0.14202	0.011000	0.14972	0.095000	0.18619	1.100000	0.31025	0.017000	0.15025	-0.302000	0.09304	TCG	HGS	-	pirsf_Ubi-bd_Hrs_VPS27		0.672	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	C	NM_004712		79660922	+1	no_errors	ENST00000329138	ensembl	human	known	70_37	missense	SNP	0.332	T
HGS	9146	genome.wustl.edu	37	17	79660949	79660949	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:79660949C>T	ENST00000329138.4	+	11	1025	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	297	Interaction with SNX1. {ECO:0000250}.				endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|epidermal growth factor receptor signaling pathway (GO:0007173)|membrane invagination (GO:0010324)|membrane organization (GO:0061024)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of gene expression (GO:0010628)|protein localization to membrane (GO:0072657)|protein targeting to lysosome (GO:0006622)|regulation of protein catabolic process (GO:0042176)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|secretory granule (GO:0030141)	metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CCCATGCCCTCGGCCTCCTCA	0.647																																																	0													35.0	40.0	38.0					17																	79660949		2202	4300	6502	SO:0001583	missense	9146			D84064	CCDS11784.1	17q25	2009-04-29				ENSG00000185359		"""Zinc fingers, FYVE domain containing"""	4897	protein-coding gene	gene with protein product		604375				9407053, 9630564	Standard	NM_004712		Approved	Hrs, ZFYVE8, Vps27	uc002kbg.3	O14964		ENST00000329138.4:c.890C>T	17.37:g.79660949C>T	ENSP00000331201:p.Ser297Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NR36	Missense_Mutation	SNP	pfam_VHS,pfam_HRS_helical,pfam_Znf_FYVE,superfamily_ENTH_VHS,superfamily_Znf_FYVE_PHD,smart_VHS_subgr,smart_Znf_FYVE,pirsf_Ubi-bd_Hrs_VPS27,pfscan_Ubiquitin-int_motif,pfscan_VHS,pfscan_Znf_FYVE-rel	p.S297L	ENST00000329138.4	37	c.890	CCDS11784.1	17	.	.	.	.	.	.	.	.	.	.	C	2.847	-0.239064	0.05944	.	.	ENSG00000185359	ENST00000329138;ENST00000442335	T	0.39787	1.06	4.76	1.24	0.21308	.	0.405452	0.24530	N	0.037724	T	0.15435	0.0372	N	0.03608	-0.345	0.27790	N	0.942856	B	0.02656	0.0	B	0.01281	0.0	T	0.12319	-1.0552	10	0.27785	T	0.31	-1.0748	3.733	0.08500	0.1586:0.1929:0.0:0.6485	.	297	O14964	HGS_HUMAN	L	297	ENSP00000331201:S297L	ENSP00000331201:S297L	S	+	2	0	HGS	77271354	1.000000	0.71417	0.015000	0.15790	0.008000	0.06430	2.862000	0.48388	-0.063000	0.13065	0.655000	0.94253	TCG	HGS	-	pirsf_Ubi-bd_Hrs_VPS27		0.647	HGS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HGS	HGNC	protein_coding	OTTHUMT00000440541.1	C	NM_004712		79660949	+1	no_errors	ENST00000329138	ensembl	human	known	70_37	missense	SNP	0.967	T
HIBCH	26275	genome.wustl.edu	37	2	191114420	191114420	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:191114420C>G	ENST00000359678.5	-	9	990	c.696G>C	c.(694-696)ttG>ttC	p.L232F	HIBCH_ENST00000392332.3_Missense_Mutation_p.L232F|HIBCH_ENST00000410045.1_Missense_Mutation_p.L9F	NM_014362.3|NM_198047.2	NP_055177.2|NP_932164.1	Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	232					branched-chain amino acid catabolic process (GO:0009083)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|valine catabolic process (GO:0006574)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)	3-hydroxyisobutyryl-CoA hydrolase activity (GO:0003860)			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AAGGAGATTTCAAGGCTAACA	0.333																																																	0													51.0	53.0	52.0					2																	191114420		2202	4297	6499	SO:0001583	missense	26275			U66669	CCDS2304.1, CCDS46475.1	2q32.3	2010-04-29	2010-04-29		ENSG00000198130	ENSG00000198130	3.1.2.4		4908	protein-coding gene	gene with protein product		610690	"""3-hydroxyisobutyryl-Coenzyme A hydrolase"""			8824301	Standard	NM_014362		Approved		uc002uru.3	Q6NVY1	OTTHUMG00000132673	ENST00000359678.5:c.696G>C	2.37:g.191114420C>G	ENSP00000352706:p.Leu232Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPI4|Q53GA8|Q53GF2|Q53RF7|Q53TC6|Q92931|Q9BS94	Missense_Mutation	SNP	pfam_Crotonase_core	p.L232F	ENST00000359678.5	37	c.696	CCDS2304.1	2	.	.	.	.	.	.	.	.	.	.	C	13.59	2.281565	0.40394	.	.	ENSG00000198130	ENST00000392332;ENST00000359678;ENST00000410045;ENST00000409820	T;T	0.67523	-0.27;0.11	5.43	2.63	0.31362	.	0.070383	0.64402	D	0.000017	T	0.69691	0.3139	M	0.88377	2.95	0.51482	D	0.999929	B;B	0.27068	0.167;0.058	B;B	0.31442	0.13;0.061	T	0.67090	-0.5758	10	0.62326	D	0.03	-1.0477	8.2333	0.31612	0.0:0.743:0.0:0.257	.	232;232	Q6NVY1-2;Q6NVY1	.;HIBCH_HUMAN	F	232;232;9;12	ENSP00000376144:L232F;ENSP00000352706:L232F	ENSP00000352706:L232F	L	-	3	2	HIBCH	190822665	1.000000	0.71417	0.996000	0.52242	0.992000	0.81027	0.714000	0.25808	0.341000	0.23771	0.655000	0.94253	TTG	HIBCH	-	NULL		0.333	HIBCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIBCH	HGNC	protein_coding	OTTHUMT00000255933.1	C			191114420	-1	no_errors	ENST00000359678	ensembl	human	known	70_37	missense	SNP	1.000	G
HIVEP1	3096	genome.wustl.edu	37	6	12089440	12089440	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:12089440G>C	ENST00000379388.2	+	3	396	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	22					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				AGCACAAAAAGAACTTAATGG	0.264																																																	0													58.0	53.0	55.0					6																	12089440		1785	4046	5831	SO:0001583	missense	3096			J05011	CCDS43426.1	6p24-p22.3	2012-10-05	2001-11-28		ENSG00000095951	ENSG00000095951		"""Zinc fingers, C2H2-type"""	4920	protein-coding gene	gene with protein product		194540	"""human immunodeficiency virus type I enhancer-binding protein 1"", ""zinc finger protein 40"""	ZNF40		2037300	Standard	XR_241895		Approved	CIRIP, MBP-1, CRYBP1, PRDII-BF1, ZAS1, Schnurri-1, ZNF40A	uc003nac.3	P15822	OTTHUMG00000014265	ENST00000379388.2:c.64G>C	6.37:g.12089440G>C	ENSP00000368698:p.Glu22Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU3|Q14122|Q5MPB1|Q5VW60	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E22Q	ENST00000379388.2	37	c.64	CCDS43426.1	6	.	.	.	.	.	.	.	.	.	.	G	15.05	2.718135	0.48622	.	.	ENSG00000095951	ENST00000491710;ENST00000487103;ENST00000379388;ENST00000442081;ENST00000478545	T	0.12255	2.7	5.95	5.95	0.96441	.	0.000000	0.32970	U	0.005437	T	0.22126	0.0533	L	0.43152	1.355	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.00210	-1.1916	10	0.51188	T	0.08	-10.608	15.8968	0.79341	0.0:0.0:1.0:0.0	.	22	P15822	ZEP1_HUMAN	Q	22;22;22;31;22	ENSP00000368698:E22Q	ENSP00000368698:E22Q	E	+	1	0	HIVEP1	12197426	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.492000	0.53259	2.829000	0.97493	0.655000	0.94253	GAA	HIVEP1	-	NULL		0.264	HIVEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP1	HGNC	protein_coding	OTTHUMT00000039870.2	G	NM_002114		12089440	+1	no_errors	ENST00000379388	ensembl	human	known	70_37	missense	SNP	1.000	C
HIST1H2AB	8335	genome.wustl.edu	37	6	26033628	26033628	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:26033628C>G	ENST00000259791.2	-	1	168	c.169G>C	c.(169-171)Gag>Cag	p.E57Q	HIST1H3B_ENST00000244661.2_5'Flank	NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	57						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GTCAGGTACTCAAGCACCGCC	0.657																																																	0													35.0	39.0	38.0					6																	26033628		2203	4300	6503	SO:0001583	missense	8335			X00089	CCDS4574.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000137259	ENSG00000278463		"""Histones / Replication-dependent"""	4734	protein-coding gene	gene with protein product		602795	"""H2A histone family, member M"", ""histone 1, H2ab"""	H2AFM		9439656, 9119399, 12408966	Standard	NM_003513		Approved	H2A/m	uc003nft.1	P04908	OTTHUMG00000014420	ENST00000259791.2:c.169G>C	6.37:g.26033628C>G	ENSP00000259791:p.Glu57Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P28001|Q76P63	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E57Q	ENST00000259791.2	37	c.169	CCDS4574.1	6	.	.	.	.	.	.	.	.	.	.	c	25.7	4.667219	0.88251	.	.	ENSG00000137259	ENST00000259791	T	0.61859	0.07	5.49	5.49	0.81192	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.35585	U	0.003111	T	0.74997	0.3790	.	.	.	0.43647	D	0.996054	D	0.89917	1.0	D	0.97110	1.0	T	0.77718	-0.2483	9	0.87932	D	0	.	18.7226	0.91702	0.0:1.0:0.0:0.0	.	57	P04908	H2A1B_HUMAN	Q	57	ENSP00000259791:E57Q	ENSP00000259791:E57Q	E	-	1	0	HIST1H2AB	26141607	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	7.692000	0.84203	2.716000	0.92895	0.655000	0.94253	GAG	HIST1H2AB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.657	HIST1H2AB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AB	HGNC	protein_coding	OTTHUMT00000040082.1	C	NM_003513		26033628	-1	no_errors	ENST00000259791	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H1E	3008	genome.wustl.edu	37	6	26156742	26156742	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:26156742G>C	ENST00000304218.3	+	1	184	c.124G>C	c.(124-126)Gag>Cag	p.E42Q	HIST1H2BD_ENST00000377777.4_5'Flank|HIST1H2BD_ENST00000289316.2_5'Flank	NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	42	H15. {ECO:0000255|PROSITE- ProRule:PRU00837}.				nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						CCCGGTGTCCGAGCTCATTAC	0.642																																																	0													21.0	28.0	25.0					6																	26156742		2203	4297	6500	SO:0001583	missense	3008			M60748	CCDS4586.1	6p22.1	2012-05-04	2006-10-11	2003-02-21	ENSG00000168298	ENSG00000168298		"""Histones / Replication-dependent"""	4718	protein-coding gene	gene with protein product		142220	"""H1 histone family, member 4"", ""histone 1, H1e"""	H1F4		1916825, 12408966	Standard	NM_005321		Approved	H1.4, H1e, H1s-4	uc003ngq.3	P10412	OTTHUMG00000014422	ENST00000304218.3:c.124G>C	6.37:g.26156742G>C	ENSP00000307705:p.Glu42Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VB25	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.E42Q	ENST00000304218.3	37	c.124	CCDS4586.1	6	.	.	.	.	.	.	.	.	.	.	.	17.63	3.437615	0.62955	.	.	ENSG00000168298	ENST00000304218	T	0.08984	3.03	5.49	5.49	0.81192	Histone H1/H5 (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.296715	0.36200	N	0.002731	T	0.12646	0.0307	L	0.54965	1.715	0.80722	D	1	P	0.38745	0.645	P	0.52957	0.714	T	0.06534	-1.0821	10	0.25106	T	0.35	-24.2274	18.7044	0.91632	0.0:0.0:1.0:0.0	.	42	P10412	H14_HUMAN	Q	42	ENSP00000307705:E42Q	ENSP00000307705:E42Q	E	+	1	0	HIST1H1E	26264721	1.000000	0.71417	1.000000	0.80357	0.060000	0.15804	5.668000	0.68074	2.727000	0.93392	0.655000	0.94253	GAG	HIST1H1E	-	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5		0.642	HIST1H1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1E	HGNC	protein_coding	OTTHUMT00000040084.1	G	NM_005321		26156742	+1	no_errors	ENST00000304218	ensembl	human	known	70_37	missense	SNP	1.000	C
HLA-C	3107	genome.wustl.edu	37	6	31238874	31238874	+	Missense_Mutation	SNP	C	C	T	rs41552417	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:31238874C>T	ENST00000376228.5	-	3	609	c.595G>A	c.(595-597)Ggg>Agg	p.G199R	HLA-C_ENST00000383329.3_Missense_Mutation_p.G199R	NM_002117.5	NP_002108.4	Q95604	1C17_HUMAN	major histocompatibility complex, class I, C	199	Alpha-2.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cell surface (GO:0009986)|early endosome membrane (GO:0031901)|endoplasmic reticulum (GO:0005783)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						GTCTCCTTCCCGTTCTCCAGG	0.662													c|||	13	0.00259585	0.0	0.0072	5008	,	,		14715	0.0069		0.0	False		,,,				2504	0.001																0								C	ARG/GLY	2,4404		0,2,2201	53.0	45.0	47.0		595	2.5	0.9	6	dbSNP_127	47	3,8595		0,3,4296	no	missense	HLA-C	NM_002117.5	125	0,5,6497	TT,TC,CC		0.0349,0.0454,0.0384	probably-damaging	199/367	31238874	5,12999	2203	4299	6502	SO:0001583	missense	3107			M11886	CCDS34393.1	6p21.3	2014-01-30			ENSG00000204525	ENSG00000204525		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4933	protein-coding gene	gene with protein product		142840	"""psoriasis susceptibility 1"""	HLA-JY3, D6S204, PSORS1		3863816, 16642438	Standard	NM_001243042		Approved		uc003nsy.3	P04222	OTTHUMG00000031154	ENST00000376228.5:c.595G>A	6.37:g.31238874C>T	ENSP00000365402:p.Gly199Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O02864|O02958|Q29643|Q9MY30	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,pfam_MHC_I_a_C,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like,prints_MHC_I_a_a1/a2	p.G236R	ENST00000376228.5	37	c.706	CCDS34393.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	15.65|15.65	2.896290|2.896290	0.52121|0.52121	4.54E-4|4.54E-4	3.49E-4|3.49E-4	ENSG00000204525|ENSG00000204525	ENST00000376228;ENST00000383329;ENST00000396254;ENST00000539307|ENST00000415537	T;T|.	0.01068|.	5.38;5.38|.	2.55|2.55	2.55|2.55	0.30701|0.30701	MHC class I, alpha chain, alpha1/alpha2 (2);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);|.	0.000000|.	0.39083|.	U|.	0.001473|.	T|T	0.66839|0.66839	0.2830|0.2830	H|H	0.94964|0.94964	3.605|3.605	0.25787|0.25787	N|N	0.984669|0.984669	D;D;D;D|.	0.69078|.	0.997;0.972;0.972;0.972|.	P;P;P;P|.	0.60415|.	0.874;0.631;0.741;0.778|.	T|T	0.58847|0.58847	-0.7564|-0.7564	10|5	0.66056|.	D|.	0.02|.	.|.	11.1964|11.1964	0.48715|0.48715	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	rs41552417|rs41552417	199;199;199;199|.	A2AEA4;A6H578;A2AEA2;P10321|.	.;.;.;1C07_HUMAN|.	R|Q	199;199;199;236|198	ENSP00000365402:G199R;ENSP00000372819:G199R|.	ENSP00000365402:G199R|.	G|R	-|-	1|2	0|0	HLA-C|HLA-C	31346853|31346853	0.612000|0.612000	0.27000|0.27000	0.880000|0.880000	0.34516|0.34516	0.104000|0.104000	0.19210|0.19210	1.496000|1.496000	0.35638|0.35638	1.745000|1.745000	0.51790|0.51790	0.305000|0.305000	0.20034|0.20034	GGG|CGG	HLA-C	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog,prints_MHC_I_a_a1/a2		0.662	HLA-C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-C	HGNC	protein_coding	OTTHUMT00000076281.3	C	NM_002117		31238874	-1	no_errors	ENST00000539307	ensembl	human	known	70_37	missense	SNP	0.962	T
HLA-DRB5	3127	genome.wustl.edu	37	6	32487169	32487169	+	Silent	SNP	C	C	T	rs143127183	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:32487169C>T	ENST00000374975.3	-	3	692	c.630G>A	c.(628-630)acG>acA	p.T210T		NM_002125.3	NP_002116.2			major histocompatibility complex, class II, DR beta 5											NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TGAGAGGGCTCGTCACGCTTG	0.493													C|||	233	0.0465256	0.059	0.0389	5008	,	,		12789	0.0685		0.0368	False		,,,				2504	0.0225																0													73.0	83.0	80.0					6																	32487169		1886	3734	5620	SO:0001819	synonymous_variant	3127				CCDS4751.1	6p21.3	2013-01-11			ENSG00000198502	ENSG00000198502		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4953	protein-coding gene	gene with protein product		604776					Standard	NM_002125		Approved		uc003obj.3	Q30154	OTTHUMG00000031027	ENST00000374975.3:c.630G>A	6.37:g.32487169C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.T210	ENST00000374975.3	37	c.630	CCDS4751.1	6																																																																																			HLA-DRB5	-	pfam_Ig_C1-set,smart_Ig_C1-set,pfscan_Ig-like		0.493	HLA-DRB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HLA-DRB5	HGNC	protein_coding	OTTHUMT00000076022.2	C	NM_002125		32487169	-1	no_errors	ENST00000374975	ensembl	human	known	70_37	silent	SNP	0.000	T
HLA-DQA2	3118	genome.wustl.edu	37	6	32713837	32713837	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:32713837C>T	ENST00000374940.3	+	3	703	c.601C>T	c.(601-603)Ctg>Ttg	p.L201L		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	201	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					"""""""Insulin(DB00071)"""	CGAGCCTCTTCTGAAACACTG	0.493																																																	0													186.0	210.0	201.0					6																	32713837		1510	2709	4219	SO:0001819	synonymous_variant	3118				CCDS4753.1	6p21.3	2013-01-11			ENSG00000237541	ENSG00000237541		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4943	protein-coding gene	gene with protein product		613503		HLA-DXA			Standard	NM_020056		Approved		uc003obx.3	P01906	OTTHUMG00000031108	ENST00000374940.3:c.601C>T	6.37:g.32713837C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BF37|B0V0E7|O19789|Q5SQ94|Q5SR04	Silent	SNP	pfam_MHC_II_a_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_a_N,smart_Ig_C1-set,pfscan_Ig-like	p.L201	ENST00000374940.3	37	c.601	CCDS4753.1	6																																																																																			HLA-DQA2	-	NULL		0.493	HLA-DQA2-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	HLA-DQA2	HGNC	protein_coding	OTTHUMT00000076179.2	C	NM_020056		32713837	+1	no_errors	ENST00000374940	ensembl	human	known	70_37	silent	SNP	0.477	T
HIVEP2	3097	genome.wustl.edu	37	6	143074992	143074992	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:143074992C>T	ENST00000367604.1	-	9	7232	c.6593G>A	c.(6592-6594)gGc>gAc	p.G2198D	HIVEP2_ENST00000367603.2_Missense_Mutation_p.G2198D|RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.G2198D			P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2198					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAGGCTGGAGCCTGGATGTTC	0.488																																					Esophageal Squamous(107;843 1510 13293 16805 42198)												0													92.0	92.0	92.0					6																	143074992		1918	4118	6036	SO:0001583	missense	3097			M60119	CCDS43510.1	6q23-q24	2013-01-08	2001-11-28		ENSG00000010818	ENSG00000010818		"""Zinc fingers, C2H2-type"""	4921	protein-coding gene	gene with protein product	"""c-myc intron binding protein 1"""	143054	"""human immunodeficiency virus type I enhancer-binding protein 2"""			1733857, 2022670	Standard	NM_006734		Approved	MBP-2, HIV-EP2, MIBP1, ZAS2, Schnurri-2, ZNF40B	uc003qjd.3	P31629	OTTHUMG00000015713	ENST00000367604.1:c.6593G>A	6.37:g.143074992C>T	ENSP00000356576:p.Gly2198Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q02646|Q5THT5|Q9NS05	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G2198D	ENST00000367604.1	37	c.6593	CCDS43510.1	6	.	.	.	.	.	.	.	.	.	.	C	11.14	1.550945	0.27739	.	.	ENSG00000010818	ENST00000367604;ENST00000367603;ENST00000012134	T;T;T	0.02395	4.31;4.31;4.31	5.65	5.65	0.86999	.	0.309417	0.40302	N	0.001121	T	0.01387	0.0045	L	0.33485	1.01	0.42518	D	0.992991	P	0.38922	0.651	B	0.28139	0.086	T	0.65660	-0.6114	10	0.33141	T	0.24	-20.7007	19.7301	0.96179	0.0:1.0:0.0:0.0	.	2198	P31629	ZEP2_HUMAN	D	2198	ENSP00000356576:G2198D;ENSP00000356575:G2198D;ENSP00000012134:G2198D	ENSP00000012134:G2198D	G	-	2	0	HIVEP2	143116685	0.344000	0.24827	1.000000	0.80357	0.998000	0.95712	3.248000	0.51430	2.676000	0.91093	0.655000	0.94253	GGC	HIVEP2	-	NULL		0.488	HIVEP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIVEP2	HGNC	protein_coding	OTTHUMT00000042495.1	C			143074992	-1	no_errors	ENST00000012134	ensembl	human	known	70_37	missense	SNP	0.967	T
HLTF	6596	genome.wustl.edu	37	3	148756954	148756954	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:148756954G>C	ENST00000310053.5	-	23	2871	c.2678C>G	c.(2677-2679)tCa>tGa	p.S893*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.S892*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.S893*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.S893*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	893	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACACTGAATTGATTCAACTCT	0.413																																																	0													72.0	70.0	71.0					3																	148756954		2203	4300	6503	SO:0001587	stop_gained	6596			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2678C>G	3.37:g.148756954G>C	ENSP00000308944:p.Ser893*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S893*	ENST00000310053.5	37	c.2678	CCDS33875.1	3	.	.	.	.	.	.	.	.	.	.	G	42	9.451692	0.99175	.	.	ENSG00000071794	ENST00000465259;ENST00000310053;ENST00000392912;ENST00000494055;ENST00000467858	.	.	.	5.98	5.98	0.97165	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-20.9228	20.0685	0.97708	0.0:0.0:1.0:0.0	.	.	.	.	X	892;893;893;893;361	.	ENSP00000308944:S893X	S	-	2	0	HLTF	150239644	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.639000	0.67868	2.835000	0.97688	0.650000	0.86243	TCA	HLTF	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.413	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	G			148756954	-1	no_errors	ENST00000310053	ensembl	human	known	70_37	nonsense	SNP	1.000	C
HMGCLL1	54511	genome.wustl.edu	37	6	55443818	55443818	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:55443818G>A	ENST00000398661.2	-	1	167	c.36C>T	c.(34-36)ctC>ctT	p.L12L	HMGCLL1_ENST00000274901.4_Silent_p.L12L|HMGCLL1_ENST00000508459.1_Silent_p.L12L|HMGCLL1_ENST00000308161.4_Silent_p.L12L|HMGCLL1_ENST00000428842.1_Silent_p.L12L|HMGCLL1_ENST00000358072.5_Silent_p.L12L|HMGCLL1_ENST00000370850.2_Silent_p.L12L	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	12					ketone body biosynthetic process (GO:0046951)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	hydroxymethylglutaryl-CoA lyase activity (GO:0004419)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GCTGGTAGCTGAGGCAGTGCT	0.701																																					Ovarian(35;840 893 7837 15538 42887)												0													25.0	28.0	27.0					6																	55443818		2001	4177	6178	SO:0001819	synonymous_variant	54511			AK055075	CCDS43474.1, CCDS43475.1, CCDS75472.1, CCDS75473.1	6p12.1	2010-04-30	2010-04-30		ENSG00000146151	ENSG00000146151			21359	protein-coding gene	gene with protein product			"""3-hydroxymethyl-3-methylglutaryl-Coenzyme A lyase-like 1"""			8619474, 9110174	Standard	NM_001042406		Approved	DKFZP434G1411, bA418P12.1	uc003pcn.3	Q8TB92	OTTHUMG00000014902	ENST00000398661.2:c.36C>T	6.37:g.55443818G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ42|B3KNV0|B7Z1S7|F8W793|Q6ZSA9	Silent	SNP	pfam_PYR_CT,pfscan_PYR_CT	p.L12	ENST00000398661.2	37	c.36	CCDS43475.1	6																																																																																			HMGCLL1	-	NULL		0.701	HMGCLL1-004	KNOWN	basic|CCDS	protein_coding	HMGCLL1	HGNC	protein_coding	OTTHUMT00000360290.1	G	XM_166383		55443818	-1	no_errors	ENST00000398661	ensembl	human	known	70_37	silent	SNP	0.999	A
HMGN2	3151	genome.wustl.edu	37	1	26801737	26801738	+	3'UTR	INS	-	-	T	rs369602798		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:26801737_26801738insT	ENST00000361427.5	+	0	465_466				HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2							chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		TTTTGTTTTACTTTTTTTTTTT	0.307																																																	0																																										SO:0001624	3_prime_UTR_variant	3151			BC081567	CCDS283.1	1p36.1	2011-07-01	2011-04-05	2002-08-16	ENSG00000198830	ENSG00000198830		"""High-mobility group / Canonical"""	4986	protein-coding gene	gene with protein product		163910	"""high-mobility group (nonhistone chromosomal) protein 17"", ""high-mobility group nucleosomal binding domain 2"""	HMG17		2037294	Standard	NM_005517		Approved		uc001bmp.4	P05204	OTTHUMG00000003555	ENST00000361427.5:c.*99->T	1.37:g.26801748_26801748dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VGD5|Q6FGI5|Q96C64	RNA	INS	-	NULL	ENST00000361427.5	37	NULL	CCDS283.1	1																																																																																			HMGN2	-	-		0.307	HMGN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMGN2	HGNC	protein_coding	OTTHUMT00000009901.1	-	NM_005517		26801738	+1	no_errors	ENST00000460563	ensembl	human	known	70_37	rna	INS	1.000:1.000	T
HNRNPA1	3178	genome.wustl.edu	37	12	54674604	54674604	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:54674604G>A	ENST00000340913.6	+	1	66	c.13G>A	c.(13-15)Gag>Aag	p.E5K	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E5K|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E5K|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.E5K	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	5	Globular A domain.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTCTAAGTCAGAGGTGAGTTA	0.527																																					Colon(83;502 1289 8436 16406 24870)												0													198.0	205.0	202.0					12																	54674604		2152	4269	6421	SO:0001583	missense	3178			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.13G>A	12.37:g.54674604G>A	ENSP00000341826:p.Glu5Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E5K	ENST00000340913.6	37	c.13	CCDS44909.1	12	.	.	.	.	.	.	.	.	.	.	G	25.4	4.629227	0.87560	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276	D;D;D;D;D;D	0.87256	-2.23;-2.23;-2.23;-2.23;-2.23;-2.23	5.07	5.07	0.68467	.	0.115617	0.34750	N	0.003711	D	0.88273	0.6392	L	0.47016	1.485	0.35201	D	0.774293	P;D;P;B;D;P	0.52996	0.917;0.957;0.494;0.045;0.957;0.768	P;P;B;B;P;B	0.53313	0.584;0.723;0.221;0.162;0.723;0.298	D	0.91929	0.5553	10	0.72032	D	0.01	.	14.6805	0.69015	0.0:0.0:1.0:0.0	.	5;5;5;5;5;5	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	K	5	ENSP00000448617:E5K;ENSP00000448229:E5K;ENSP00000341826:E5K;ENSP00000333504:E5K;ENSP00000448117:E5K;ENSP00000447260:E5K	ENSP00000333504:E5K	E	+	1	0	HNRNPA1	52960871	1.000000	0.71417	0.990000	0.47175	0.561000	0.35649	4.670000	0.61583	2.745000	0.94114	0.491000	0.48974	GAG	HNRNPA1	-	NULL		0.527	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	HNRNPA1	HGNC	protein_coding	OTTHUMT00000405480.1	G	NM_031157		54674604	+1	no_errors	ENST00000340913	ensembl	human	known	70_37	missense	SNP	0.991	A
HNRNPA1	3178	genome.wustl.edu	37	12	54674604	54674604	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:54674604G>C	ENST00000340913.6	+	1	66	c.13G>C	c.(13-15)Gag>Cag	p.E5Q	RP11-968A15.8_ENST00000553061.1_RNA|HNRNPA1_ENST00000547276.1_Missense_Mutation_p.E5Q|HNRNPA1_ENST00000330752.8_Missense_Mutation_p.E5Q|CBX5_ENST00000209875.4_5'Flank|RP11-968A15.2_ENST00000547177.1_RNA|HNRNPA1_ENST00000546500.1_Missense_Mutation_p.E5Q	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	5	Globular A domain.				cell death (GO:0008219)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|nuclear export (GO:0051168)|nuclear import (GO:0051170)|RNA export from nucleus (GO:0006405)|RNA splicing (GO:0008380)|viral process (GO:0016032)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)|single-stranded RNA binding (GO:0003727)			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						GTCTAAGTCAGAGGTGAGTTA	0.527																																					Colon(83;502 1289 8436 16406 24870)												0													198.0	205.0	202.0					12																	54674604		2152	4269	6421	SO:0001583	missense	3178			BC009600	CCDS41793.1, CCDS44909.1	12q13.1	2013-10-11		2007-08-16	ENSG00000135486	ENSG00000135486		"""RNA binding motif (RRM) containing"""	5031	protein-coding gene	gene with protein product		164017		HNRPA1		1733858	Standard	XR_245923		Approved	hnRNPA1, hnRNP-A1	uc001sfl.3	P09651		ENST00000340913.6:c.13G>C	12.37:g.54674604G>C	ENSP00000341826:p.Glu5Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Z8|Q3MIB7|Q6PJZ7	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.E5Q	ENST00000340913.6	37	c.13	CCDS44909.1	12	.	.	.	.	.	.	.	.	.	.	G	16.79	3.221189	0.58560	.	.	ENSG00000135486	ENST00000546500;ENST00000547708;ENST00000547617;ENST00000552494;ENST00000340913;ENST00000330752;ENST00000552591;ENST00000551702;ENST00000551133;ENST00000547276	D;D;D;D;D;D	0.87571	-2.27;-2.27;-2.27;-2.27;-2.27;-2.27	5.07	5.07	0.68467	.	0.115617	0.34750	N	0.003711	D	0.89763	0.6809	L	0.47016	1.485	0.32299	N	0.565262	D;D;P;B;D;P	0.64830	0.987;0.994;0.866;0.168;0.994;0.884	P;P;P;B;P;B	0.60886	0.797;0.88;0.461;0.251;0.88;0.41	D	0.90970	0.4819	10	0.66056	D	0.02	.	14.6805	0.69015	0.0:0.0:1.0:0.0	.	5;5;5;5;5;5	F8VRQ1;F8W6I7;F8VSB5;P09651-3;P09651-2;P09651	.;.;.;.;.;ROA1_HUMAN	Q	5	ENSP00000448617:E5Q;ENSP00000448229:E5Q;ENSP00000341826:E5Q;ENSP00000333504:E5Q;ENSP00000448117:E5Q;ENSP00000447260:E5Q	ENSP00000333504:E5Q	E	+	1	0	HNRNPA1	52960871	1.000000	0.71417	0.990000	0.47175	0.561000	0.35649	4.670000	0.61583	2.745000	0.94114	0.491000	0.48974	GAG	HNRNPA1	-	NULL		0.527	HNRNPA1-002	KNOWN	basic|CCDS	protein_coding	HNRNPA1	HGNC	protein_coding	OTTHUMT00000405480.1	G	NM_031157		54674604	+1	no_errors	ENST00000340913	ensembl	human	known	70_37	missense	SNP	0.991	C
HOOK3	84376	genome.wustl.edu	37	8	42780704	42780704	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:42780704C>A	ENST00000307602.4	+	3	348	c.148C>A	c.(148-150)Cct>Act	p.P50T		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	50	Sufficient for interaction with microtubules.				cytoplasmic microtubule organization (GO:0031122)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|endosome to lysosome transport (GO:0008333)|Golgi localization (GO:0051645)|interkinetic nuclear migration (GO:0022027)|lysosome organization (GO:0007040)|microtubule anchoring at centrosome (GO:0034454)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|protein localization to centrosome (GO:0071539)|protein transport (GO:0015031)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|FHF complex (GO:0070695)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|microtubule organizing center (GO:0005815)|pericentriolar material (GO:0000242)	identical protein binding (GO:0042802)|microtubule binding (GO:0008017)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			TTGCAGAGATCCTGCATATTT	0.294			T	RET	papillary thyroid																																			Dom	yes		8	8p11.21	84376	hook homolog 3		E	0													73.0	74.0	74.0					8																	42780704		2202	4300	6502	SO:0001583	missense	84376			AK090540	CCDS6139.1	8p11.21	2013-08-21	2013-08-21		ENSG00000168172	ENSG00000168172			23576	protein-coding gene	gene with protein product		607825	"""hook homolog 3 (Drosophila)"""			9927460	Standard	NM_032410		Approved	HK3	uc003xpr.3	Q86VS8	OTTHUMG00000165278	ENST00000307602.4:c.148C>A	8.37:g.42780704C>A	ENSP00000305699:p.Pro50Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSY8|Q8NBH0|Q9BY13	Missense_Mutation	SNP	pfam_HOOK,superfamily_t-SNARE	p.P50T	ENST00000307602.4	37	c.148	CCDS6139.1	8	.	.	.	.	.	.	.	.	.	.	C	23.9	4.474122	0.84640	.	.	ENSG00000168172	ENST00000307602	T	0.55930	0.49	5.93	5.93	0.95920	.	0.244492	0.42294	D	0.000737	T	0.73094	0.3543	M	0.80183	2.485	0.58432	D	0.999997	D;B	0.56521	0.976;0.292	P;B	0.60286	0.872;0.186	T	0.75602	-0.3261	10	0.87932	D	0	-7.653	19.1758	0.93602	0.0:1.0:0.0:0.0	.	50;50	Q2VJ45;Q86VS8	.;HOOK3_HUMAN	T	50	ENSP00000305699:P50T	ENSP00000305699:P50T	P	+	1	0	HOOK3	42899861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.617000	0.54181	2.824000	0.97209	0.650000	0.86243	CCT	HOOK3	-	pfam_HOOK		0.294	HOOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOOK3	HGNC	protein_coding	OTTHUMT00000383172.2	C	NM_032410		42780704	+1	no_errors	ENST00000307602	ensembl	human	known	70_37	missense	SNP	1.000	A
HOXB4	3214	genome.wustl.edu	37	17	46655232	46655232	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:46655232C>T	ENST00000332503.5	-	1	2241	c.450G>A	c.(448-450)gtG>gtA	p.V150V	HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000485909.2_5'Flank|HOXB3_ENST00000552000.2_Intron|MIR10A_ENST00000385043.1_RNA|HOXB3_ENST00000489475.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	150					anterior/posterior pattern specification (GO:0009952)|bone marrow development (GO:0048539)|cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|embryonic skeletal system morphogenesis (GO:0048704)|hematopoietic stem cell differentiation (GO:0060218)|morphogenesis of an epithelial sheet (GO:0002011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of stem cell differentiation (GO:2000738)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|somatic stem cell division (GO:0048103)|spleen development (GO:0048536)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						CACCCGTGCTCACGTGAACTT	0.687																																																	0													22.0	25.0	24.0					17																	46655232		2164	4215	6379	SO:0001819	synonymous_variant	3214				CCDS11529.1	17q21.32	2011-06-20	2005-12-22		ENSG00000182742	ENSG00000182742		"""Homeoboxes / ANTP class : HOXL subclass"""	5115	protein-coding gene	gene with protein product		142965	"""homeo box B4"""	HOX2, HOX2F		1973146, 1358459	Standard	NM_024015		Approved		uc002inp.3	P17483	OTTHUMG00000159920	ENST00000332503.5:c.450G>A	17.37:g.46655232C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NTA0	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_Homeobox_antennapedia	p.V150	ENST00000332503.5	37	c.450	CCDS11529.1	17																																																																																			HOXB4	-	NULL		0.687	HOXB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB4	HGNC	protein_coding	OTTHUMT00000358259.2	C			46655232	-1	no_errors	ENST00000332503	ensembl	human	known	70_37	silent	SNP	1.000	T
HOXC8	3224	genome.wustl.edu	37	12	54404916	54404916	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:54404916G>A	ENST00000040584.4	+	2	717	c.480G>A	c.(478-480)caG>caA	p.Q160Q	RP11-834C11.12_ENST00000513209.1_Intron	NM_022658.3	NP_073149.1	P31273	HXC8_HUMAN	homeobox C8	160					anterior/posterior pattern specification (GO:0009952)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|skeletal system morphogenesis (GO:0048705)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	8						GCCGGTATCAGACCTTGGAAC	0.498																																					GBM(197;701 2226 7002 18822 41696)												0													71.0	68.0	69.0					12																	54404916		2203	4300	6503	SO:0001819	synonymous_variant	3224			X99680	CCDS8870.1	12q13.13	2011-06-20	2005-12-22			ENSG00000037965		"""Homeoboxes / ANTP class : HOXL subclass"""	5129	protein-coding gene	gene with protein product		142970	"""homeo box C8"""	HOX3, HOX3A		1973146, 1358459	Standard	NM_022658		Approved		uc001ser.3	P31273		ENST00000040584.4:c.480G>A	12.37:g.54404916G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4J4|O15221|O15362	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa,prints_HTH_motif	p.Q160	ENST00000040584.4	37	c.480	CCDS8870.1	12																																																																																			HOXC8	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.498	HOXC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXC8	HGNC	protein_coding	OTTHUMT00000358957.2	G			54404916	+1	no_errors	ENST00000040584	ensembl	human	known	70_37	silent	SNP	1.000	A
HPCAL4	51440	genome.wustl.edu	37	1	40149662	40149662	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:40149662C>T	ENST00000372844.3	-	3	716	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_001282396.1|NM_001282397.1|NM_016257.2	NP_001269325.1|NP_001269326.1|NP_057341.1	Q9UM19	HPCL4_HUMAN	hippocalcin like 4	109	EF-hand 3. {ECO:0000255|PROSITE- ProRule:PRU00448}.				central nervous system development (GO:0007417)|signal transduction (GO:0007165)	intracellular (GO:0005622)	calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGTCCAGGTCGTACATCTCA	0.682																																																	0													50.0	51.0	50.0					1																	40149662		2203	4300	6503	SO:0001583	missense	51440			AB001105	CCDS441.1, CCDS72761.1	1p34.2	2013-01-10			ENSG00000116983	ENSG00000116983		"""EF-hand domain containing"""	18212	protein-coding gene	gene with protein product						10520747	Standard	NM_016257		Approved	HLP4, DKFZp761G122	uc001cdr.3	Q9UM19	OTTHUMG00000009246	ENST00000372844.3:c.325G>A	1.37:g.40149662C>T	ENSP00000361935:p.Asp109Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5U2|D3DPU1|Q5TG97|Q8N611	Missense_Mutation	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.D109N	ENST00000372844.3	37	c.325	CCDS441.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.373860	0.95923	.	.	ENSG00000116983	ENST00000372844;ENST00000450300	D	0.95821	-3.82	3.45	3.45	0.39498	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	D	0.98532	0.9510	H	0.97214	3.96	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99387	1.0924	10	0.87932	D	0	.	16.2222	0.82265	0.0:1.0:0.0:0.0	.	109	Q9UM19	HPCL4_HUMAN	N	109;101	ENSP00000361935:D109N	ENSP00000361935:D109N	D	-	1	0	HPCAL4	39922249	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.603000	0.82811	2.231000	0.72958	0.313000	0.20887	GAC	HPCAL4	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin		0.682	HPCAL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPCAL4	HGNC	protein_coding	OTTHUMT00000025640.1	C	NM_016257		40149662	-1	no_errors	ENST00000372844	ensembl	human	known	70_37	missense	SNP	1.000	T
HPGDS	27306	genome.wustl.edu	37	4	95255735	95255735	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:95255735C>T	ENST00000295256.5	-	2	136	c.46G>A	c.(46-48)Gaa>Aaa	p.E16K	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	16	GST N-terminal.				arachidonic acid metabolic process (GO:0019369)|cyclooxygenase pathway (GO:0019371)|glutathione derivative biosynthetic process (GO:1901687)|locomotory behavior (GO:0007626)|prostaglandin metabolic process (GO:0006693)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	calcium ion binding (GO:0005509)|glutathione transferase activity (GO:0004364)|magnesium ion binding (GO:0000287)|prostaglandin-D synthase activity (GO:0004667)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	CGAATAATTTCTGCTCTCCCC	0.363																																					Colon(86;1802 1843 17863 46794)												0													122.0	119.0	120.0					4																	95255735		2203	4299	6502	SO:0001583	missense	27306			D82073	CCDS3640.1	4q22.2	2012-06-21			ENSG00000163106	ENSG00000163106		"""Glutathione S-transferases / Soluble"""	17890	protein-coding gene	gene with protein product	"""glutathione S-transferase sigma"""	602598				9323136, 9353279, 11672424	Standard	XM_005262932		Approved	GSTS, PGDS, H-PGDS, PGD2, GSTS1-1	uc003hte.1	O60760	OTTHUMG00000130974	ENST00000295256.5:c.46G>A	4.37:g.95255735C>T	ENSP00000295256:p.Glu16Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHT9	Missense_Mutation	SNP	pfam_Glutathione_S-Trfase_N,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.E16K	ENST00000295256.5	37	c.46	CCDS3640.1	4	.	.	.	.	.	.	.	.	.	.	C	31	5.066108	0.93898	.	.	ENSG00000163106	ENST00000295256	T	0.08370	3.1	5.57	5.57	0.84162	Glutathione S-transferase, N-terminal (2);Thioredoxin-like fold (2);	0.000000	0.64402	D	0.000001	T	0.35711	0.0941	M	0.87180	2.865	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.20907	-1.0261	10	0.87932	D	0	.	17.0442	0.86498	0.0:1.0:0.0:0.0	.	16	O60760	HPGDS_HUMAN	K	16	ENSP00000295256:E16K	ENSP00000295256:E16K	E	-	1	0	HPGDS	95474758	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.079000	0.64431	2.626000	0.88956	0.655000	0.94253	GAA	HPGDS	-	pfam_Glutathione_S-Trfase_N,superfamily_Thioredoxin-like_fold		0.363	HPGDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HPGDS	HGNC	protein_coding	OTTHUMT00000253587.1	C	NM_014485		95255735	-1	no_errors	ENST00000295256	ensembl	human	known	70_37	missense	SNP	1.000	T
HRG	3273	genome.wustl.edu	37	3	186395416	186395416	+	Missense_Mutation	SNP	G	G	A	rs529521530		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:186395416G>A	ENST00000232003.4	+	7	1402	c.1322G>A	c.(1321-1323)cGa>cAa	p.R441Q		NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	441	His/Pro-rich (HRR).				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TTAAGAAGGCGAGGCCCAGGT	0.552																																																	0													69.0	63.0	65.0					3																	186395416		2203	4300	6503	SO:0001583	missense	3273				CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.1322G>A	3.37:g.186395416G>A	ENSP00000232003:p.Arg441Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EK35|D3DNU7	Missense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R441Q	ENST00000232003.4	37	c.1322	CCDS3280.1	3	.	.	.	.	.	.	.	.	.	.	G	4.416	0.076845	0.08485	.	.	ENSG00000113905	ENST00000232003	T	0.22134	1.97	4.88	-1.37	0.09056	.	0.270380	0.26590	N	0.023525	T	0.13286	0.0322	L	0.46157	1.445	0.09310	N	1	B	0.24533	0.105	B	0.12837	0.008	T	0.36335	-0.9752	10	0.12430	T	0.62	-10.8229	8.7308	0.34498	0.5756:0.0:0.4244:0.0	.	441	P04196	HRG_HUMAN	Q	441	ENSP00000232003:R441Q	ENSP00000232003:R441Q	R	+	2	0	HRG	187878110	0.001000	0.12720	0.033000	0.17914	0.002000	0.02628	-0.252000	0.08806	-0.150000	0.11195	-0.474000	0.04947	CGA	HRG	-	NULL		0.552	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRG	HGNC	protein_coding	OTTHUMT00000344655.1	G	NM_000412		186395416	+1	no_errors	ENST00000232003	ensembl	human	known	70_37	missense	SNP	0.017	A
HRH4	59340	genome.wustl.edu	37	18	22056884	22056884	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:22056884C>T	ENST00000256906.4	+	3	631	c.531C>T	c.(529-531)atC>atT	p.I177I	HRH4_ENST00000426880.2_Silent_p.I89I	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	177					inflammatory response (GO:0006954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of MAPK cascade (GO:0043408)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	histamine receptor activity (GO:0004969)			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Amitriptyline(DB00321)|Amoxapine(DB00543)|Chlorpromazine(DB00477)|Clozapine(DB00363)|Doxepin(DB01142)|Histamine Phosphate(DB00667)|Loxapine(DB00408)|Mianserin(DB06148)|Olanzapine(DB00334)	TCCTTGCCATCACATCATTCT	0.418																																																	0													247.0	228.0	235.0					18																	22056884		2203	4300	6503	SO:0001819	synonymous_variant	59340			AF312230	CCDS11887.1, CCDS45841.1	18q11.2	2012-08-08			ENSG00000134489	ENSG00000134489		"""GPCR / Class A : Histamine receptors"""	17383	protein-coding gene	gene with protein product		606792				11118334, 10973974	Standard	NM_021624		Approved	H4R, HH4R, AXOR35, GPCR105, GPRv53	uc002kvi.3	Q9H3N8	OTTHUMG00000131945	ENST00000256906.4:c.531C>T	18.37:g.22056884C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ19|B2KJ48|Q4G0I6|Q9GZQ0	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Histamine_H4_recept,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.I177	ENST00000256906.4	37	c.531	CCDS11887.1	18																																																																																			HRH4	-	pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.418	HRH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRH4	HGNC	protein_coding	OTTHUMT00000254904.1	C			22056884	+1	no_errors	ENST00000256906	ensembl	human	known	70_37	silent	SNP	0.229	T
HRNR	388697	genome.wustl.edu	37	1	152188560	152188560	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:152188560C>T	ENST00000368801.2	-	3	5620	c.5545G>A	c.(5545-5547)Ggg>Agg	p.G1849R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1849					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCCAGACCCATGTTGGCCG	0.597																																																	0													28.0	48.0	42.0					1																	152188560		2096	4255	6351	SO:0001583	missense	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5545G>A	1.37:g.152188560C>T	ENSP00000357791:p.Gly1849Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5DT20|Q5U1F4	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.G1849R	ENST00000368801.2	37	c.5545	CCDS30859.1	1	.	.	.	.	.	.	.	.	.	.	C	4.464	0.085960	0.08583	.	.	ENSG00000197915	ENST00000368801	T	0.21191	2.02	2.26	0.226	0.15353	.	.	.	.	.	T	0.06554	0.0168	M	0.67397	2.05	0.09310	N	1	B	0.30406	0.278	B	0.29267	0.1	T	0.37056	-0.9722	9	0.23302	T	0.38	.	3.5515	0.07848	0.0:0.5718:0.265:0.1633	.	1849	Q86YZ3	HORN_HUMAN	R	1849	ENSP00000357791:G1849R	ENSP00000357791:G1849R	G	-	1	0	HRNR	150455184	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.794000	0.04584	0.068000	0.16574	-0.190000	0.12839	GGG	HRNR	-	NULL		0.597	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188560	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	missense	SNP	0.000	T
HSD17B11	51170	genome.wustl.edu	37	4	88258406	88258406	+	3'UTR	SNP	C	C	T	rs544215776		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:88258406C>T	ENST00000358290.4	-	0	1240				HSD17B11_ENST00000507518.1_5'UTR|RP11-529H2.2_ENST00000508163.1_RNA	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11						androgen catabolic process (GO:0006710)|steroid biosynthetic process (GO:0006694)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|lipid particle (GO:0005811)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|steroid dehydrogenase activity (GO:0016229)			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CCTGGTAAATCAGTTTTCAGA	0.313																																																	0													84.0	81.0	82.0					4																	88258406		2203	4299	6502	SO:0001624	3_prime_UTR_variant	51170			AF126780	CCDS3619.1	4q22.1	2011-09-20	2006-11-22	2006-11-22	ENSG00000198189	ENSG00000198189	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	22960	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 2"", ""short chain dehydrogenase/reductase family 16C, member 2"""	612831	"""dehydrogenase/reductase (SDR family) member 8"""	DHRS8		11165019, 12697717, 19027726	Standard	XM_006714232		Approved	RetSDR2, 17-BETA-HSD11, 17-BETA-HSDXI, PAN1B, SDR16C2	uc003hqp.2	Q8NBQ5	OTTHUMG00000130594	ENST00000358290.4:c.*22G>A	4.37:g.88258406C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96HF6|Q9UKU4	RNA	SNP	-	NULL	ENST00000358290.4	37	NULL	CCDS3619.1	4																																																																																			HSD17B11	-	-		0.313	HSD17B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B11	HGNC	protein_coding	OTTHUMT00000253041.1	C	NM_016245		88258406	-1	no_errors	ENST00000502576	ensembl	human	known	70_37	rna	SNP	0.000	T
HSD17B14	51171	genome.wustl.edu	37	19	49316448	49316448	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:49316448G>C	ENST00000263278.4	-	9	1063	c.797C>G	c.(796-798)cCc>cGc	p.P266R	BCAT2_ENST00000597011.1_5'Flank|BCAT2_ENST00000599246.1_5'Flank|BCAT2_ENST00000402551.1_5'Flank|BCAT2_ENST00000601496.1_5'Flank|BCAT2_ENST00000545387.2_5'Flank|BCAT2_ENST00000316273.6_5'Flank|BCAT2_ENST00000598162.1_5'Flank|HSD17B14_ENST00000599157.1_Missense_Mutation_p.P242R	NM_016246.2	NP_057330.2	Q9BPX1	DHB14_HUMAN	hydroxysteroid (17-beta) dehydrogenase 14	266					steroid catabolic process (GO:0006706)	cytosol (GO:0005829)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|testosterone 17-beta-dehydrogenase (NADP+) activity (GO:0047045)			large_intestine(3)|lung(1)|skin(1)	5		all_epithelial(76;7e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000341)|all cancers(93;0.000764)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.0346)		AGGGATATCGGGGGCGTCCAC	0.612																																																	0													16.0	18.0	17.0					19																	49316448		2199	4296	6495	SO:0001583	missense	51171			AF126781	CCDS12736.1	19q13.33	2011-09-14	2006-11-22	2006-11-22		ENSG00000087076		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	23238	protein-coding gene	gene with protein product	"""retinal short-chain dehydrogenase/reductase 3"", ""short chain dehydrogenase/reductase family 47C, member 1"""	612832	"""dehydrogenase/reductase (SDR family) member 10"""	DHRS10		10800688, 17067289, 19027726	Standard	XM_005258969		Approved	retSDR3, SDR47C1	uc002pkv.1	Q9BPX1		ENST00000263278.4:c.797C>G	19.37:g.49316448G>C	ENSP00000263278:p.Pro266Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UKU3	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pfam_Epimerase_deHydtase,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.P266R	ENST00000263278.4	37	c.797	CCDS12736.1	19	.	.	.	.	.	.	.	.	.	.	G	13.88	2.370355	0.42003	.	.	ENSG00000087076	ENST00000263278	D	0.84589	-1.87	3.88	3.88	0.44766	.	0.181701	0.31797	N	0.007043	T	0.68495	0.3007	N	0.08118	0	0.33580	D	0.599793	P	0.38195	0.622	B	0.32624	0.149	T	0.78912	-0.2017	10	0.51188	T	0.08	.	12.0356	0.53423	0.0:0.0:1.0:0.0	.	266	Q9BPX1	DHB14_HUMAN	R	266	ENSP00000263278:P266R	ENSP00000263278:P266R	P	-	2	0	HSD17B14	54008260	0.748000	0.28294	0.116000	0.21606	0.022000	0.10575	5.000000	0.63940	2.121000	0.65114	0.561000	0.74099	CCC	HSD17B14	-	NULL		0.612	HSD17B14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B14	HGNC	protein_coding	OTTHUMT00000466212.1	G	NM_016246		49316448	-1	no_errors	ENST00000263278	ensembl	human	known	70_37	missense	SNP	0.777	C
HSDL2	84263	genome.wustl.edu	37	9	115232804	115232804	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:115232804C>G	ENST00000398805.3	+	11	1464	c.1237C>G	c.(1237-1239)Cag>Gag	p.Q413E	HSDL2_ENST00000262542.7_Missense_Mutation_p.Q293E|HSDL2_ENST00000539114.1_Missense_Mutation_p.Q208E|HSDL2_ENST00000398803.1_Missense_Mutation_p.Q340E	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	413	SCP2.					membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						GCTAATGAATCAGATGAATGC	0.333																																																	0													73.0	66.0	68.0					9																	115232804		1839	4079	5918	SO:0001583	missense	84263			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.1237C>G	9.37:g.115232804C>G	ENSP00000381785:p.Gln413Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.Q413E	ENST00000398805.3	37	c.1237	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	C	14.22	2.469944	0.43839	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542;ENST00000539114	D;T;T;T	0.82526	-1.62;1.98;1.99;1.98	5.8	5.8	0.92144	SCP2 sterol-binding domain (1);	0.127194	0.56097	D	0.000034	D	0.83229	0.5209	M	0.78637	2.42	0.49389	D	0.999787	P;P;B	0.48089	0.89;0.905;0.349	B;B;B	0.44224	0.34;0.444;0.108	T	0.81276	-0.1006	10	0.06494	T	0.89	.	17.8208	0.88650	0.0:1.0:0.0:0.0	.	340;340;413	Q6YN16-2;B2R923;Q6YN16	.;.;HSDL2_HUMAN	E	413;340;293;208	ENSP00000381785:Q413E;ENSP00000381783:Q340E;ENSP00000262542:Q293E;ENSP00000442278:Q208E	ENSP00000262542:Q293E	Q	+	1	0	HSDL2	114272625	0.998000	0.40836	0.991000	0.47740	0.927000	0.56198	4.230000	0.58632	2.730000	0.93505	0.557000	0.71058	CAG	HSDL2	-	superfamily_SCP2_sterol-bd_dom		0.333	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	C	NM_032303		115232804	+1	no_errors	ENST00000398805	ensembl	human	known	70_37	missense	SNP	0.999	G
HSP90AB1	3326	genome.wustl.edu	37	6	44216453	44216453	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:44216453C>G	ENST00000371554.1	+	2	301	c.87C>G	c.(85-87)atC>atG	p.I29M	HSP90AB1_ENST00000371646.5_Missense_Mutation_p.I29M|HSP90AB1_ENST00000353801.3_Missense_Mutation_p.I29M			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	29					axon guidance (GO:0007411)|cellular response to interleukin-4 (GO:0071353)|cellular response to organic cyclic compound (GO:0071407)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|placenta development (GO:0001890)|positive regulation of cell size (GO:0045793)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|protein folding (GO:0006457)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to salt stress (GO:0009651)|response to unfolded protein (GO:0006986)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|CTP binding (GO:0002135)|dATP binding (GO:0032564)|double-stranded RNA binding (GO:0003725)|GTP binding (GO:0005525)|MHC class II protein complex binding (GO:0023026)|nitric-oxide synthase regulator activity (GO:0030235)|poly(A) RNA binding (GO:0044822)|TPR domain binding (GO:0030911)|UTP binding (GO:0002134)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CCCTCATCATCAATACCTTCT	0.428																																																	0													173.0	171.0	172.0					6																	44216453		2203	4300	6503	SO:0001583	missense	3326			AF275719	CCDS4909.1	6p12	2011-09-02	2006-02-24	2006-02-24	ENSG00000096384	ENSG00000096384		"""Heat shock proteins / HSPC"""	5258	protein-coding gene	gene with protein product		140572	"""heat shock 90kD protein 1, beta"", ""heat shock 90kDa protein 1, beta"""	HSPC2, HSPCB		2768249, 16269234	Standard	NM_001271969		Approved		uc031sor.1	P08238	OTTHUMG00000014761	ENST00000371554.1:c.87C>G	6.37:g.44216453C>G	ENSP00000360609:p.Ile29Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5P0|Q5T9W7|Q9NQW0|Q9NTK6	Missense_Mutation	SNP	pfam_Hsp90,pfam_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_ATPase-like_ATP-bd,smart_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N	p.I29M	ENST00000371554.1	37	c.87	CCDS4909.1	6	.	.	.	.	.	.	.	.	.	.	C	17.26	3.343865	0.61073	.	.	ENSG00000096384	ENST00000441736;ENST00000371646;ENST00000353801;ENST00000371554	T;T;T	0.19938	2.11;2.11;2.11	4.26	1.27	0.21489	Heat shock protein Hsp90, N-terminal (1);ATPase-like, ATP-binding domain (2);	0.000000	0.64402	U	0.000001	T	0.41373	0.1156	H	0.95884	3.735	0.80722	D	1	P;P	0.52463	0.942;0.953	D;P	0.64237	0.923;0.799	T	0.47381	-0.9122	10	0.66056	D	0.02	-14.4732	8.497	0.33134	0.0:0.7278:0.0:0.2722	.	29;29	B4DGL0;P08238	.;HS90B_HUMAN	M	29	ENSP00000360709:I29M;ENSP00000325875:I29M;ENSP00000360609:I29M	ENSP00000325875:I29M	I	+	3	3	HSP90AB1	44324431	1.000000	0.71417	0.991000	0.47740	0.932000	0.56968	1.674000	0.37544	0.016000	0.14998	-0.438000	0.05819	ATC	HSP90AB1	-	superfamily_ATPase-like_ATP-bd,pirsf_Hsp90,prints_Hsp90_N		0.428	HSP90AB1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HSP90AB1	HGNC	protein_coding	OTTHUMT00000040730.1	C	NM_007355		44216453	+1	no_errors	ENST00000353801	ensembl	human	known	70_37	missense	SNP	1.000	G
HSPA6	3310	genome.wustl.edu	37	1	161495957	161495957	+	Silent	SNP	C	C	T	rs41299258	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:161495957C>T	ENST00000309758.4	+	1	1922	c.1509C>T	c.(1507-1509)atC>atT	p.I503I	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	503					ATP catabolic process (GO:0006200)|cellular response to heat (GO:0034605)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)	blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|enzyme binding (GO:0019899)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CTAACAAGATCACCATCACCA	0.547																																																	0													81.0	64.0	70.0					1																	161495957		2203	4300	6503	SO:0001819	synonymous_variant	3310				CCDS1231.1	1q23.3	2011-09-02	2002-08-29		ENSG00000173110	ENSG00000173110		"""Heat shock proteins / HSP70"""	5239	protein-coding gene	gene with protein product		140555	"""heat shock 70kD protein 6 (HSP70B')"""			1346391	Standard	NM_002155		Approved		uc001gaq.3	P17066	OTTHUMG00000034461	ENST00000309758.4:c.1509C>T	1.37:g.161495957C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q1HBA8|Q8IYK7|Q9BT95	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I503	ENST00000309758.4	37	c.1509	CCDS1231.1	1																																																																																			HSPA6	-	pfam_Hsp_70_fam		0.547	HSPA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA6	HGNC	protein_coding	OTTHUMT00000083308.1	C	NM_002155		161495957	+1	no_errors	ENST00000309758	ensembl	human	known	70_37	silent	SNP	1.000	T
HSPA9	3313	genome.wustl.edu	37	5	137903344	137903344	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:137903344C>T	ENST00000297185.3	-	6	728	c.603G>A	c.(601-603)caG>caA	p.Q201Q	HSPA9_ENST00000501917.2_5'Flank	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	201					cellular protein metabolic process (GO:0044267)|negative regulation of apoptotic process (GO:0043066)|protein export from nucleus (GO:0006611)|protein folding (GO:0006457)|protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCACCTGTCTCTGCGAGTCAT	0.388																																																	0													79.0	74.0	76.0					5																	137903344		2203	4300	6503	SO:0001819	synonymous_variant	3313			L11066	CCDS4208.1	5q31.1	2011-09-02	2006-10-31	2006-10-31	ENSG00000113013	ENSG00000113013		"""Heat shock proteins / HSP70"""	5244	protein-coding gene	gene with protein product		600548	"""heat shock 70kDa protein 9B (mortalin-2)"""	HSPA9B		7684501	Standard	NM_004134		Approved	GRP75, PBP74, mot-2, mthsp75	uc003ldf.3	P38646	OTTHUMG00000129206	ENST00000297185.3:c.603G>A	5.37:g.137903344C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCM1|P30036|P31932|Q1HB43|Q53H23|Q6GU03|Q9BWB7|Q9UC56	Silent	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,pfam_Carb_kinase_FGGY_C,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK	p.Q201	ENST00000297185.3	37	c.603	CCDS4208.1	5																																																																																			HSPA9	-	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam,tigrfam_Chaperone_DnaK		0.388	HSPA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA9	HGNC	protein_coding	OTTHUMT00000251285.1	C	NM_004134		137903344	-1	no_errors	ENST00000297185	ensembl	human	known	70_37	silent	SNP	1.000	T
HUWE1	10075	genome.wustl.edu	37	X	53644394	53644394	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:53644394C>T	ENST00000342160.3	-	19	2143	c.1686G>A	c.(1684-1686)gtG>gtA	p.V562V	HUWE1_ENST00000218328.8_Silent_p.V562V|HUWE1_ENST00000262854.6_Silent_p.V562V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	562					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAAACACAGTCACCACTTCAG	0.368																																																	0													60.0	47.0	51.0					X																	53644394		2202	4298	6500	SO:0001819	synonymous_variant	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.1686G>A	X.37:g.53644394C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Silent	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.V562	ENST00000342160.3	37	c.1686	CCDS35301.1	X																																																																																			HUWE1	-	pfam_E3_Ub_ligase_DUF913,superfamily_ARM-type_fold		0.368	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	C	XM_497119		53644394	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	silent	SNP	1.000	T
HTR2C	3358	genome.wustl.edu	37	X	114141786	114141786	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:114141786C>G	ENST00000276198.1	+	6	1913	c.1185C>G	c.(1183-1185)gtC>gtG	p.V395V	HTR2C_ENST00000371950.3_3'UTR|HTR2C_ENST00000371951.1_Silent_p.V395V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	395					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|cGMP biosynthetic process (GO:0006182)|feeding behavior (GO:0007631)|locomotory behavior (GO:0007626)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipase C-activating serotonin receptor signaling pathway (GO:0007208)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol biosynthetic process (GO:0010513)|regulation of appetite (GO:0032098)|regulation of corticotropin-releasing hormone secretion (GO:0043397)|regulation of neurological system process (GO:0031644)|release of sequestered calcium ion into cytosol (GO:0051209)|response to drug (GO:0042493)|serotonin receptor signaling pathway (GO:0007210)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding (GO:0071886)|drug binding (GO:0008144)|Gq/11-coupled serotonin receptor activity (GO:0001587)|serotonin binding (GO:0051378)|serotonin receptor activity (GO:0004993)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Agomelatine(DB06594)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Doxepin(DB01142)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Lorcaserin(DB04871)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Pramipexole(DB00413)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Yohimbine(DB01392)|Ziprasidone(DB00246)	AGCCTCCTGTCAGGCAGATTC	0.443																																																	0													81.0	83.0	82.0					X																	114141786		2203	4300	6503	SO:0001819	synonymous_variant	3358				CCDS14564.1, CCDS59174.1	Xq23	2013-12-19	2012-02-03		ENSG00000147246	ENSG00000147246		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5295	protein-coding gene	gene with protein product		312861	"""5-hydroxytryptamine (serotonin) receptor 2C"""	HTR1C		7895773	Standard	NM_000868		Approved	5-HT2C, 5HTR2C	uc004epu.1	P28335	OTTHUMG00000022226	ENST00000276198.1:c.1185C>G	X.37:g.114141786C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMW4|Q5VUF8|Q9NP28	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_5HT2C_rcpt,prints_GPCR_Rhodpsn,prints_5HT_rcpt	p.V395	ENST00000276198.1	37	c.1185	CCDS14564.1	X																																																																																			HTR2C	-	prints_5HT2C_rcpt		0.443	HTR2C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HTR2C	HGNC	protein_coding	OTTHUMT00000057962.1	C	NM_000868		114141786	+1	no_errors	ENST00000276198	ensembl	human	known	70_37	silent	SNP	0.000	G
HYAL2	8692	genome.wustl.edu	37	3	50357191	50357191	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:50357191C>T	ENST00000447092.1	-	1	3022	c.730G>A	c.(730-732)Gag>Aag	p.E244K	HYAL2_ENST00000395139.3_Missense_Mutation_p.E244K|HYAL2_ENST00000357750.4_Missense_Mutation_p.E244K|HYAL2_ENST00000442581.1_Missense_Mutation_p.E244K|TUSC2_ENST00000462137.1_5'Flank			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	244					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to interleukin-1 (GO:0071347)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|defense response to virus (GO:0051607)|fusion of virus membrane with host plasma membrane (GO:0019064)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|hematopoietic progenitor cell differentiation (GO:0002244)|hyaluronan catabolic process (GO:0030214)|hyaluronan metabolic process (GO:0030212)|kidney development (GO:0001822)|monocyte activation (GO:0042117)|multicellular organismal aging (GO:0010259)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of cell growth (GO:0030308)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interleukin-6 secretion (GO:2000778)|positive regulation of interleukin-8 secretion (GO:2000484)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of urine volume (GO:0035810)|renal water absorption (GO:0070295)|response to antibiotic (GO:0046677)|response to reactive oxygen species (GO:0000302)|response to virus (GO:0009615)|skeletal system morphogenesis (GO:0048705)|small molecule metabolic process (GO:0044281)|transformation of host cell by virus (GO:0019087)|viral entry into host cell (GO:0046718)	anchored component of external side of plasma membrane (GO:0031362)|anchored component of plasma membrane (GO:0046658)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|lysosome (GO:0005764)|membrane raft (GO:0045121)|microvillus (GO:0005902)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|hyaluronic acid binding (GO:0005540)|hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)|receptor signaling protein tyrosine kinase inhibitor activity (GO:0030294)|receptor tyrosine kinase binding (GO:0030971)|transforming growth factor beta binding (GO:0050431)|virus receptor activity (GO:0001618)			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GCCGTGCTCTCAGCCCACAGC	0.597																																																	0													57.0	58.0	58.0					3																	50357191		2203	4300	6503	SO:0001583	missense	8692			AJ000099	CCDS2818.1	3p21.3	2008-07-18			ENSG00000068001	ENSG00000068001			5321	protein-coding gene	gene with protein product	"""lysosomal hyaluronidase"", ""PH-20 homolog"", ""hyaluronidase 2"""	603551				9712871, 9790770	Standard	NM_003773		Approved	LuCa-2, LUCA2	uc003czv.3	Q12891	OTTHUMG00000156876	ENST00000447092.1:c.730G>A	3.37:g.50357191C>T	ENSP00000401853:p.Glu244Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRZ2|O15177|Q9BW29	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase	p.E244K	ENST00000447092.1	37	c.730	CCDS2818.1	3	.	.	.	.	.	.	.	.	.	.	C	11.60	1.687716	0.29962	.	.	ENSG00000068001	ENST00000447092;ENST00000357750;ENST00000395139;ENST00000442581	T;T;T;T	0.24350	1.86;1.86;1.86;1.86	5.93	4.1	0.47936	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.24392	0.0591	L	0.39397	1.21	0.58432	D	0.999996	B;B	0.17852	0.024;0.008	B;B	0.33846	0.152;0.171	T	0.05716	-1.0868	10	0.26408	T	0.33	-30.4833	11.0953	0.48141	0.0:0.8015:0.128:0.0705	.	244;244	B3KRZ2;Q12891	.;HYAL2_HUMAN	K	244	ENSP00000401853:E244K;ENSP00000350387:E244K;ENSP00000378571:E244K;ENSP00000406657:E244K	ENSP00000350387:E244K	E	-	1	0	HYAL2	50332195	1.000000	0.71417	0.913000	0.36048	0.001000	0.01503	4.909000	0.63314	1.521000	0.48983	-0.252000	0.11476	GAG	HYAL2	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase		0.597	HYAL2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	HYAL2	HGNC	protein_coding	OTTHUMT00000346391.1	C	NM_003773		50357191	-1	no_errors	ENST00000357750	ensembl	human	known	70_37	missense	SNP	0.996	T
HYDIN	54768	genome.wustl.edu	37	16	71004492	71004492	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:71004492C>T	ENST00000393567.2	-	36	5700	c.5550G>A	c.(5548-5550)aaG>aaA	p.K1850K		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1850					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGCAGGGATTCTTCACTATCA	0.473																																																	0													32.0	30.0	31.0					16																	71004492		1799	4030	5829	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.5550G>A	16.37:g.71004492C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.K1849	ENST00000393567.2	37	c.5547	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.473	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71004492	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	1.000	T
IDH3G	3421	genome.wustl.edu	37	X	153051683	153051683	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153051683G>A	ENST00000217901.5	-	12	1260	c.1064C>T	c.(1063-1065)tCc>tTc	p.S355F	IDH3G_ENST00000370092.3_Missense_Mutation_p.S355F|IDH3G_ENST00000370093.1_3'UTR|IDH3G_ENST00000497043.1_5'Flank|IDH3G_ENST00000427365.2_Missense_Mutation_p.S297F	NM_004135.3	NP_004126.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	355					carbohydrate metabolic process (GO:0005975)|cellular metabolic process (GO:0044237)|isocitrate metabolic process (GO:0006102)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|isocitrate dehydrogenase (NAD+) activity (GO:0004449)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ATTGTCCATGGATGCCAGGAC	0.652																																																	0													90.0	77.0	81.0					X																	153051683		2203	4299	6502	SO:0001583	missense	3421				CCDS14730.1, CCDS44019.1	Xq28	2008-02-05			ENSG00000067829	ENSG00000067829	1.1.1.41		5386	protein-coding gene	gene with protein product		300089				9286695	Standard	NM_004135		Approved		uc004fip.4	P51553	OTTHUMG00000024219	ENST00000217901.5:c.1064C>T	X.37:g.153051683G>A	ENSP00000217901:p.Ser355Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PDD5|Q9BUU5	Missense_Mutation	SNP	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD	p.S355F	ENST00000217901.5	37	c.1064	CCDS14730.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	21.0|21.0	4.083159|4.083159	0.76642|0.76642	.|.	.|.	ENSG00000067829|ENSG00000067829	ENST00000424541|ENST00000370092;ENST00000217901;ENST00000427365;ENST00000393771	.|T;T;T	.|0.69435	.|-0.4;-0.4;-0.4	5.46|5.46	5.46|5.46	0.80206|0.80206	.|Isopropylmalate dehydrogenase-like domain (2);	.|0.057170	.|0.64402	.|D	.|0.000001	T|T	0.81226|0.81226	0.4778|0.4778	M|M	0.79805|0.79805	2.47|2.47	0.51012|0.51012	D|D	0.999902|0.999902	.|P;D;D	.|0.60575	.|0.903;0.988;0.973	.|P;D;P	.|0.63703	.|0.532;0.917;0.877	D|D	0.84133|0.84133	0.0413|0.0413	5|10	.|0.87932	.|D	.|0	.|.	15.1643|15.1643	0.72811|0.72811	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|251;355;355	.|E9PCL6;E9PDD5;P51553	.|.;.;IDH3G_HUMAN	S|F	117|355;355;297;251	.|ENSP00000359110:S355F;ENSP00000217901:S355F;ENSP00000408529:S297F	.|ENSP00000217901:S355F	P|S	-|-	1|2	0|0	IDH3G|IDH3G	152704877|152704877	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.673000|0.673000	0.39480|0.39480	4.589000|4.589000	0.61006|0.61006	2.285000|2.285000	0.76669|0.76669	0.431000|0.431000	0.28591|0.28591	CCA|TCC	IDH3G	-	pfam_IsoPropMal-DH-like_dom,tigrfam_Isocitrate_DH_NAD		0.652	IDH3G-005	KNOWN	basic|appris_principal|CCDS	protein_coding	IDH3G	HGNC	protein_coding	OTTHUMT00000061084.27	G			153051683	-1	no_errors	ENST00000217901	ensembl	human	known	70_37	missense	SNP	1.000	A
IFT172	26160	genome.wustl.edu	37	2	27679448	27679448	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27679448C>T	ENST00000260570.3	-	30	3404	c.3301G>A	c.(3301-3303)Gag>Aag	p.E1101K		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172	1101					bone development (GO:0060348)|brain development (GO:0007420)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|epidermis development (GO:0008544)|heart looping (GO:0001947)|hindgut development (GO:0061525)|left/right axis specification (GO:0070986)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|Notch signaling pathway (GO:0007219)|palate development (GO:0060021)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|smoothened signaling pathway (GO:0007224)|spinal cord motor neuron differentiation (GO:0021522)	axoneme (GO:0005930)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)|sperm midpiece (GO:0097225)|sperm principal piece (GO:0097228)|vesicle (GO:0031982)				central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					ACTGCAGCCTCTCCTCCCAGG	0.542																																																	0													131.0	123.0	125.0					2																	27679448		2203	4300	6503	SO:0001583	missense	26160			AB033005	CCDS1755.1	2p23.3	2014-07-03	2014-07-03		ENSG00000138002	ENSG00000138002		"""Intraflagellar transport homologs"", ""WD repeat domain containing"""	30391	protein-coding gene	gene with protein product	"""wimple homolog"""	607386	"""intraflagellar transport 172 homolog (Chlamydomonas)"""			10788441, 10574461, 24140113	Standard	XM_005264254		Approved	SLB, wim, osm-1, NPHP17	uc002rku.3	Q9UG01	OTTHUMG00000128425	ENST00000260570.3:c.3301G>A	2.37:g.27679448C>T	ENSP00000260570:p.Glu1101Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ0|B2RNU5|Q86X44|Q96HW4|Q9UFJ9|Q9ULP1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat	p.E1101K	ENST00000260570.3	37	c.3301	CCDS1755.1	2	.	.	.	.	.	.	.	.	.	.	C	33	5.259353	0.95368	.	.	ENSG00000138002	ENST00000260570	T	0.54675	0.56	5.99	4.13	0.48395	.	0.044813	0.85682	N	0.000000	T	0.69584	0.3127	M	0.84326	2.69	0.80722	D	1	D	0.65815	0.995	P	0.62560	0.904	T	0.71626	-0.4536	10	0.59425	D	0.04	-12.0212	10.5161	0.44889	0.0:0.8382:0.0:0.1618	.	1101	Q9UG01	IF172_HUMAN	K	1101	ENSP00000260570:E1101K	ENSP00000260570:E1101K	E	-	1	0	IFT172	27532952	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	5.659000	0.68010	0.802000	0.34089	0.655000	0.94253	GAG	IFT172	-	NULL		0.542	IFT172-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IFT172	HGNC	protein_coding	OTTHUMT00000250213.2	C	NM_015662		27679448	-1	no_errors	ENST00000260570	ensembl	human	known	70_37	missense	SNP	1.000	T
IGDCC3	9543	genome.wustl.edu	37	15	65621808	65621808	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:65621808C>T	ENST00000327987.4	-	13	2376	c.2125G>A	c.(2125-2127)Gag>Aag	p.E709K	IGDCC3_ENST00000559231.1_5'Flank	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	709					neuromuscular process controlling balance (GO:0050885)	integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ACACGTTTCTCGTCTCGGCCC	0.657																																																	0													54.0	64.0	61.0					15																	65621808		2199	4294	6493	SO:0001583	missense	9543			AF063936	CCDS10205.1	15q22.3-q23	2013-02-11	2009-01-08	2009-01-08	ENSG00000174498	ENSG00000174498		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9700	protein-coding gene	gene with protein product		604184	"""putative neuronal cell adhesion molecule"""	PUNC		9922388	Standard	NM_004884		Approved	HsT18880	uc002aos.2	Q8IVU1	OTTHUMG00000133137	ENST00000327987.4:c.2125G>A	15.37:g.65621808C>T	ENSP00000332773:p.Glu709Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O95215	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E709K	ENST00000327987.4	37	c.2125	CCDS10205.1	15	.	.	.	.	.	.	.	.	.	.	C	9.672	1.146942	0.21288	.	.	ENSG00000174498	ENST00000327987	T	0.65364	-0.15	5.73	1.58	0.23477	.	0.573084	0.18003	N	0.154856	T	0.33147	0.0853	N	0.08118	0	0.23204	N	0.998128	B	0.11235	0.004	B	0.08055	0.003	T	0.18335	-1.0340	10	0.11182	T	0.66	-5.0986	6.0865	0.19970	0.0:0.6413:0.1331:0.2256	.	709	Q8IVU1	IGDC3_HUMAN	K	709	ENSP00000332773:E709K	ENSP00000332773:E709K	E	-	1	0	IGDCC3	63408861	0.104000	0.21937	0.009000	0.14445	0.002000	0.02628	0.490000	0.22403	0.038000	0.15604	-0.126000	0.14955	GAG	IGDCC3	-	NULL		0.657	IGDCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGDCC3	HGNC	protein_coding	OTTHUMT00000256826.1	C	NM_004884		65621808	-1	no_errors	ENST00000327987	ensembl	human	known	70_37	missense	SNP	0.789	T
IGF1R	3480	genome.wustl.edu	37	15	99472812	99472812	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:99472812G>A	ENST00000268035.6	+	14	3419	c.2808G>A	c.(2806-2808)ctG>ctA	p.L936L	IGF1R_ENST00000558762.1_Silent_p.L935L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	936					axonogenesis (GO:0007409)|brain development (GO:0007420)|epidermis development (GO:0008544)|establishment of cell polarity (GO:0030010)|exocrine pancreas development (GO:0031017)|immune response (GO:0006955)|inactivation of MAPKK activity (GO:0051389)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|male sex determination (GO:0030238)|mammary gland development (GO:0030879)|negative regulation of apoptotic process (GO:0043066)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|peptidyl-tyrosine autophosphorylation (GO:0038083)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of DNA replication (GO:0045740)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mitosis (GO:0045840)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|prostate gland epithelium morphogenesis (GO:0060740)|protein autophosphorylation (GO:0046777)|protein heterooligomerization (GO:0051291)|protein tetramerization (GO:0051262)|regulation of JNK cascade (GO:0046328)|response to vitamin E (GO:0033197)|signal transduction (GO:0007165)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor binding (GO:0005520)|insulin-like growth factor I binding (GO:0031994)|insulin-like growth factor-activated receptor activity (GO:0005010)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		"""""""Insulin(DB00071)|Insulin Glargine(DB00047)|Insulin Lispro(DB00046)|Insulin Regular(DB00030)|Mecasermin(DB01277)"""	TCATCCATCTGATCATCGCTC	0.428																																																	0													208.0	186.0	194.0					15																	99472812		2197	4297	6494	SO:0001819	synonymous_variant	3480			M69229	CCDS10378.1, CCDS73785.1	15q26.3	2013-02-11			ENSG00000140443	ENSG00000140443		"""CD molecules"", ""Fibronectin type III domain containing"""	5465	protein-coding gene	gene with protein product		147370				1316909	Standard	XM_006720486		Approved	JTK13, CD221, IGFIR, MGC18216, IGFR	uc002bul.3	P08069	OTTHUMG00000149851	ENST00000268035.6:c.2808G>A	15.37:g.99472812G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1B5Y2|Q14CV2|Q9UCC0	Silent	SNP	pirsf_Tyr_kinase_insulin-like_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_cat_dom,pfam_Furin-like_Cys-rich_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt,superfamily_Fibronectin_type3,smart_Furin_repeat,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom	p.L936	ENST00000268035.6	37	c.2808	CCDS10378.1	15																																																																																			IGF1R	-	pirsf_Tyr_kinase_insulin-like_rcpt		0.428	IGF1R-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	IGF1R	HGNC	protein_coding	OTTHUMT00000313537.2	G	NM_000875		99472812	+1	no_errors	ENST00000268035	ensembl	human	known	70_37	silent	SNP	0.880	A
IGF2R	3482	genome.wustl.edu	37	6	160466886	160466886	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:160466886G>C	ENST00000356956.1	+	14	2023	c.1875G>C	c.(1873-1875)gaG>gaC	p.E625D		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	625					insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	CAGAAGGGGAGAACTGCACGG	0.493																																																	0													128.0	136.0	134.0					6																	160466886		2203	4300	6503	SO:0001583	missense	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.1875G>C	6.37:g.160466886G>C	ENSP00000349437:p.Glu625Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z7G9|Q96PT5	Missense_Mutation	SNP	pfam_CIMR,pfam_FN_type2_col-bd,superfamily_Man6P_isomerase_rcpt-bd_dom,superfamily_Kringle-like,smart_FN_type2_col-bd,pfscan_FN_type2_col-bd	p.E625D	ENST00000356956.1	37	c.1875	CCDS5273.1	6	.	.	.	.	.	.	.	.	.	.	G	0.450	-0.894280	0.02491	.	.	ENSG00000197081	ENST00000356956	T	0.02216	4.39	5.67	-11.3	0.00108	Mannose-6-phosphate receptor, binding (1);	0.249108	0.45361	N	0.000366	T	0.00178	0.0005	N	0.02674	-0.535	0.35954	D	0.834101	B	0.06786	0.001	B	0.12156	0.007	T	0.49000	-0.8984	10	0.02654	T	1	-6.9786	4.1259	0.10126	0.3346:0.3389:0.2395:0.087	.	625	P11717	MPRI_HUMAN	D	625	ENSP00000349437:E625D	ENSP00000349437:E625D	E	+	3	2	IGF2R	160386876	0.140000	0.22579	0.918000	0.36340	0.720000	0.41350	-0.418000	0.07080	-2.048000	0.00907	-1.092000	0.02172	GAG	IGF2R	-	pfam_CIMR,superfamily_Man6P_isomerase_rcpt-bd_dom		0.493	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	G	NM_000876		160466886	+1	no_errors	ENST00000356956	ensembl	human	known	70_37	missense	SNP	0.667	C
IGFL1	374918	genome.wustl.edu	37	19	46733399	46733399	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:46733399C>T	ENST00000437936.1	+	2	83	c.60C>T	c.(58-60)ctC>ctT	p.L20L	AC006262.10_ENST00000597337.1_RNA	NM_198541.1	NP_940943.1	Q6UW32	IGFL1_HUMAN	IGF-like family member 1	20						extracellular space (GO:0005615)				lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		CCAGGCTCCTCTGCTCACACG	0.587																																																	0													93.0	92.0	92.0					19																	46733399		1927	4133	6060	SO:0001819	synonymous_variant	374918			AY359013	CCDS46123.1	19q13.32	2010-06-15			ENSG00000188293	ENSG00000188293			24093	protein-coding gene	gene with protein product		610544				12975309	Standard	NM_198541		Approved	UNQ644	uc002pee.3	Q6UW32		ENST00000437936.1:c.60C>T	19.37:g.46733399C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L20	ENST00000437936.1	37	c.60	CCDS46123.1	19																																																																																			IGFL1	-	NULL		0.587	IGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFL1	HGNC	protein_coding	OTTHUMT00000461724.1	C	NM_198541		46733399	+1	no_errors	ENST00000437936	ensembl	human	known	70_37	silent	SNP	0.005	T
IGFN1	91156	genome.wustl.edu	37	1	201175672	201175672	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:201175672G>A	ENST00000335211.4	+	12	1781	c.1651G>A	c.(1651-1653)Gaa>Aaa	p.E551K	IGFN1_ENST00000295591.8_5'UTR|IGFN1_ENST00000451870.2_Intron	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	0						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAACAGTGATGAATGCTGGAG	0.587																																																	0													85.0	90.0	89.0					1																	201175672		692	1591	2283	SO:0001583	missense	91156			AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.1651G>A	1.37:g.201175672G>A	ENSP00000334714:p.Glu551Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F8WAI1|Q9NT72	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E551K	ENST00000335211.4	37	c.1651	CCDS53455.1	1	.	.	.	.	.	.	.	.	.	.	G	12.89	2.073571	0.36566	.	.	ENSG00000163395	ENST00000335211	T	0.52983	0.64	4.82	-2.2	0.06994	.	.	.	.	.	T	0.24547	0.0595	N	0.08118	0	0.09310	N	0.999999	.	.	.	.	.	.	T	0.27191	-1.0081	6	.	.	.	.	10.0949	0.42469	0.4957:0.0:0.5043:0.0	.	.	.	.	K	551	ENSP00000334714:E551K	.	E	+	1	0	IGFN1	199442295	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-0.043000	0.12043	-0.447000	0.07138	-0.345000	0.07892	GAA	IGFN1	-	NULL		0.587	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	IGFN1	HGNC	protein_coding		G	NM_178275		201175672	+1	no_errors	ENST00000335211	ensembl	human	known	70_37	missense	SNP	0.000	A
IGSF1	3547	genome.wustl.edu	37	X	130409550	130409550	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:130409550G>C	ENST00000361420.3	-	16	3165	c.3086C>G	c.(3085-3087)tCt>tGt	p.S1029C	IGSF1_ENST00000370904.1_Missense_Mutation_p.S1020C|IGSF1_ENST00000467244.1_5'Flank|IGSF1_ENST00000370903.3_Missense_Mutation_p.S1034C|IGSF1_ENST00000370910.1_Missense_Mutation_p.S1020C			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	1029	Ig-like C2-type 10.				regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	coreceptor activity (GO:0015026)|inhibin binding (GO:0034711)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCTAGTACCAGATATATTGGT	0.502																																																	0													140.0	117.0	125.0					X																	130409550		2203	4300	6503	SO:0001583	missense	3547			AF034198	CCDS14629.1, CCDS14630.1, CCDS55490.1, CCDS55491.1	Xq25	2013-01-11			ENSG00000147255	ENSG00000147255		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5948	protein-coding gene	gene with protein product		300137				9521868, 9729118	Standard	NM_001555		Approved	KIAA0364, IGDC1, IGCD1, INHBP, MGC75490, PGSF2	uc004ewe.4	Q8N6C5	OTTHUMG00000022406	ENST00000361420.3:c.3086C>G	X.37:g.130409550G>C	ENSP00000355010:p.Ser1029Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MEG2|H9KV64|O15070|Q9NTC8	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S1034C	ENST00000361420.3	37	c.3101	CCDS14629.1	X	.	.	.	.	.	.	.	.	.	.	G	10.52	1.373944	0.24857	.	.	ENSG00000147255	ENST00000370910;ENST00000361420;ENST00000370904;ENST00000370903	T;T;T;T	0.16196	2.36;2.36;2.36;2.36	5.32	4.45	0.53987	Immunoglobulin-like fold (1);	0.000000	0.46145	D	0.000301	T	0.39517	0.1081	M	0.80422	2.495	0.29709	N	0.839582	D;D;D	0.89917	0.998;1.0;1.0	D;D;D	0.85130	0.988;0.993;0.997	T	0.37103	-0.9720	10	0.87932	D	0	.	7.6787	0.28500	0.1108:0.0:0.8892:0.0	.	1020;473;1029	Q8N6C5-2;C9JP68;Q8N6C5	.;.;IGSF1_HUMAN	C	1020;1029;1020;1034	ENSP00000359947:S1020C;ENSP00000355010:S1029C;ENSP00000359941:S1020C;ENSP00000359940:S1034C	ENSP00000355010:S1029C	S	-	2	0	IGSF1	130237231	0.899000	0.30636	0.934000	0.37439	0.006000	0.05464	1.838000	0.39211	2.562000	0.86427	0.600000	0.82982	TCT	IGSF1	-	smart_Ig_sub,smart_Ig_sub2		0.502	IGSF1-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGSF1	HGNC	protein_coding	OTTHUMT00000058288.1	G			130409550	-1	no_errors	ENST00000370903	ensembl	human	known	70_37	missense	SNP	0.949	C
IKBIP	121457	genome.wustl.edu	37	12	99019962	99019962	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:99019962C>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.E294K|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATTTTCTTTTCTGTTTCTATC	0.388																																																	0													78.0	75.0	76.0					12																	99019962		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8111G>A	12.37:g.99019962C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.E294K	ENST00000342502.2	37	c.880	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	24.7	4.565233	0.86439	.	.	ENSG00000166130	ENST00000299157	T	0.70986	-0.53	5.54	5.54	0.83059	.	0.363657	0.33457	N	0.004881	D	0.85396	0.5687	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.74674	0.984	D	0.86586	0.1857	9	0.66056	D	0.02	-25.4713	19.454	0.94880	0.0:1.0:0.0:0.0	.	294	Q70UQ0-4	.	K	294	ENSP00000299157:E294K	ENSP00000299157:E294K	E	-	1	0	IKBIP	97544093	1.000000	0.71417	1.000000	0.80357	0.714000	0.41099	4.908000	0.63307	2.596000	0.87737	0.655000	0.94253	GAA	IKBIP	-	NULL		0.388	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99019962	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	missense	SNP	1.000	T
IKBIP	121457	genome.wustl.edu	37	12	99019972	99019972	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:99019972C>T	ENST00000342502.2	-	2	709				IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000299157.4_Silent_p.L290L|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						CTGTTTCTATCAGATCCTGAG	0.368																																																	0													80.0	77.0	78.0					12																	99019972		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8101G>A	12.37:g.99019972C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Silent	SNP	NULL	p.L290	ENST00000342502.2	37	c.870	CCDS9067.1	12																																																																																			IKBIP	-	NULL		0.368	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99019972	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	silent	SNP	0.995	T
IKBIP	121457	genome.wustl.edu	37	12	99020013	99020013	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:99020013C>G	ENST00000342502.2	-	2	709				IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.E277Q|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						ATAGCACTTTCAATTGTTGGC	0.393																																																	0													107.0	105.0	106.0					12																	99020013		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+8060G>C	12.37:g.99020013C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.E277Q	ENST00000342502.2	37	c.829	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	16.39	3.110394	0.56398	.	.	ENSG00000166130	ENST00000299157	T	0.50813	0.73	5.54	5.54	0.83059	.	0.437380	0.28036	N	0.016848	T	0.67552	0.2905	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.61282	-0.7094	9	0.23891	T	0.37	-18.2051	19.454	0.94880	0.0:1.0:0.0:0.0	.	277	Q70UQ0-4	.	Q	277	ENSP00000299157:E277Q	ENSP00000299157:E277Q	E	-	1	0	IKBIP	97544144	1.000000	0.71417	0.984000	0.44739	0.052000	0.14988	6.560000	0.73950	2.596000	0.87737	0.655000	0.94253	GAA	IKBIP	-	NULL		0.393	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99020013	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	missense	SNP	1.000	G
IKBIP	121457	genome.wustl.edu	37	12	99020210	99020210	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:99020210C>G	ENST00000342502.2	-	2	709				IKBIP_ENST00000393042.3_Intron|IKBIP_ENST00000299157.4_Missense_Mutation_p.R211T|IKBIP_ENST00000420861.1_Intron	NM_201612.2	NP_963906.1	Q70UQ0	IKIP_HUMAN	IKBKB interacting protein						response to X-ray (GO:0010165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TCTAATATTTCTTAGTGTGCT	0.368																																																	0													143.0	135.0	138.0					12																	99020210		2203	4300	6503	SO:0001627	intron_variant	121457			AJ539425	CCDS9067.1, CCDS9068.1, CCDS41822.1	12q23.1	2010-02-17			ENSG00000166130	ENSG00000166130			26430	protein-coding gene	gene with protein product	"""I kappa B kinase interacting protein"""	609861				15389287	Standard	NM_153687		Approved	FLJ31051, IKIP	uc001tfx.4	Q70UQ0	OTTHUMG00000170213	ENST00000342502.2:c.297+7863G>C	12.37:g.99020210C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZWH4|Q70UP9|Q86V91|Q96ND2	Missense_Mutation	SNP	NULL	p.R211T	ENST00000342502.2	37	c.632	CCDS9067.1	12	.	.	.	.	.	.	.	.	.	.	C	20.2	3.954803	0.73902	.	.	ENSG00000166130	ENST00000299157	T	0.55413	0.52	5.7	4.81	0.61882	.	0.394418	0.31335	N	0.007828	T	0.61949	0.2388	.	.	.	0.80722	D	1	D	0.55800	0.973	P	0.56612	0.802	T	0.59129	-0.7512	9	0.25106	T	0.35	-18.3712	14.6309	0.68655	0.0:0.93:0.0:0.07	.	211	Q70UQ0-4	.	T	211	ENSP00000299157:R211T	ENSP00000299157:R211T	R	-	2	0	IKBIP	97544341	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	4.889000	0.63171	1.414000	0.47017	0.650000	0.86243	AGA	IKBIP	-	NULL		0.368	IKBIP-003	KNOWN	basic|CCDS	protein_coding	IKBIP	HGNC	protein_coding	OTTHUMT00000408003.2	C	NM_153687		99020210	-1	no_errors	ENST00000299157	ensembl	human	known	70_37	missense	SNP	1.000	G
IL13RA2	3598	genome.wustl.edu	37	X	114251854	114251854	+	De_novo_Start_InFrame	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:114251854G>C	ENST00000371936.1	-	0	228				IL13RA2_ENST00000468224.1_5'UTR|IL13RA2_ENST00000243213.1_De_novo_Start_InFrame			Q14627	I13R2_HUMAN	interleukin 13 receptor, alpha 2						cytokine-mediated signaling pathway (GO:0019221)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	cytokine receptor activity (GO:0004896)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TTAAAACCTTGATATTGCCTC	0.328																																																	0													63.0	54.0	57.0					X																	114251854		2203	4300	6503			3598			X95302	CCDS14565.1	Xq23	2014-01-21			ENSG00000123496	ENSG00000123496		"""Interleukins and interleukin receptors"", ""CD molecules"""	5975	protein-coding gene	gene with protein product	"""cancer/testis antigen 19"""	300130				8663118, 9083087	Standard	NM_000640		Approved	IL-13R, IL13BP, CD213a2, CT19	uc004epx.3	Q14627	OTTHUMG00000022229		X.37:g.114251854G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7E2|O00667	RNA	SNP	-	NULL	ENST00000371936.1	37	NULL	CCDS14565.1	X																																																																																			IL13RA2	-	-		0.328	IL13RA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL13RA2	HGNC	protein_coding	OTTHUMT00000057966.1	G	NM_000640		114251854	-1	no_errors	ENST00000468224	ensembl	human	known	70_37	rna	SNP	0.037	C
IL16	3603	genome.wustl.edu	37	15	81585185	81585185	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:81585185C>T	ENST00000302987.4	+	11	1709	c.1709C>T	c.(1708-1710)cCa>cTa	p.P570L	IL16_ENST00000394660.2_Missense_Mutation_p.P570L			Q14005	IL16_HUMAN	interleukin 16	570					immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|leukocyte chemotaxis (GO:0030595)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CCACCCCTCCCAGAGAGCCGG	0.592																																																	0													23.0	26.0	25.0					15																	81585185		1886	4102	5988	SO:0001583	missense	3603			U82972	CCDS10317.1, CCDS42069.1, CCDS53966.1	15q26.3	2011-07-14	2011-07-14		ENSG00000172349	ENSG00000172349		"""Interleukins and interleukin receptors"""	5980	protein-coding gene	gene with protein product	"""prointerleukin 16"", ""lymphocyte chemoattractant factor"""	603035	"""interleukin 16 (lymphocyte chemoattractant factor)"""			9144227	Standard	NM_004513		Approved	LCF, IL-16, prIL-16, HsT19289, FLJ42735, FLJ16806	uc021ssh.1	Q14005	OTTHUMG00000144186	ENST00000302987.4:c.1709C>T	15.37:g.81585185C>T	ENSP00000302935:p.Pro570Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM20|A8MU65|B5TY35|B9EGR6|H3BVH5|Q16435|Q6VVE6|Q6ZMQ7|Q9UP18	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,prints_Interleukin-16	p.P570L	ENST00000302987.4	37	c.1709	CCDS42069.1	15	.	.	.	.	.	.	.	.	.	.	C	4.693	0.128931	0.08981	.	.	ENSG00000172349	ENST00000394660;ENST00000355368;ENST00000302987;ENST00000329842	T;T	0.11495	2.77;2.77	4.72	0.378	0.16204	.	0.614895	0.13615	N	0.374852	T	0.09069	0.0224	L	0.57536	1.79	0.09310	N	0.999996	B;B;B;B	0.30068	0.0;0.0;0.267;0.001	B;B;B;B	0.22601	0.001;0.001;0.04;0.003	T	0.26430	-1.0103	10	0.32370	T	0.25	.	5.162	0.15066	0.1411:0.5368:0.0:0.3221	.	64;107;570;570	Q6ZTT5;B7Z8M3;Q14005;Q14005-2	.;.;IL16_HUMAN;.	L	570;402;570;107	ENSP00000378155:P570L;ENSP00000302935:P570L	ENSP00000302935:P570L	P	+	2	0	IL16	79372240	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	0.168000	0.16622	0.209000	0.20645	0.561000	0.74099	CCA	IL16	-	NULL		0.592	IL16-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL16	HGNC	protein_coding	OTTHUMT00000303952.1	C	NM_172217		81585185	+1	no_errors	ENST00000302987	ensembl	human	known	70_37	missense	SNP	0.000	T
IL17D	53342	genome.wustl.edu	37	13	21277402	21277402	+	5'Flank	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:21277402G>T	ENST00000304920.3	+	0	0				IL17D_ENST00000498088.1_3'UTR|AL161772.1_ENST00000581760.1_RNA	NM_138284.1	NP_612141.1	Q8TAD2	IL17D_HUMAN	interleukin 17D						inflammatory response (GO:0006954)	extracellular space (GO:0005615)				endometrium(1)|skin(1)	2		all_cancers(29;9.63e-24)|all_epithelial(30;1.09e-19)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000301)|Epithelial(112;0.000633)|OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Lung(94;0.0154)|LUSC - Lung squamous cell carcinoma(192;0.0414)		CCGCCGCGTCGCCCCATCTCG	0.642																																																	0																																										SO:0001631	upstream_gene_variant	53342			AY078238	CCDS9292.1	13q11	2008-07-18			ENSG00000172458	ENSG00000172458		"""Interleukins and interleukin receptors"""	5984	protein-coding gene	gene with protein product	"""interleukin 27"""	607587				12097364	Standard	NM_138284		Approved	IL-22, IL-27, IL-17D, IL27, FLJ30846	uc001unm.3	Q8TAD2	OTTHUMG00000016521		13.37:g.21277402G>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM69	RNA	SNP	-	NULL	ENST00000304920.3	37	NULL	CCDS9292.1	13																																																																																			IL17D	-	-		0.642	IL17D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL17D	HGNC	protein_coding	OTTHUMT00000044087.1	G	NM_138284		21277402	+1	no_errors	ENST00000498088	ensembl	human	known	70_37	rna	SNP	0.000	T
IL4I1	259307	genome.wustl.edu	37	19	50394272	50394272	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:50394272G>A	ENST00000391826.2	-	7	871	c.729C>T	c.(727-729)ttC>ttT	p.F243F	IL4I1_ENST00000595948.1_Silent_p.F265F|MIR4750_ENST00000584564.1_RNA|IL4I1_ENST00000341114.3_Silent_p.F265F	NM_152899.1	NP_690863.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	243						extracellular region (GO:0005576)|lysosome (GO:0005764)	L-amino-acid oxidase activity (GO:0001716)			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)	Flavin adenine dinucleotide(DB03147)	GGGCCTCGGCGAAGCTGAGAT	0.667																																																	0													27.0	31.0	30.0					19																	50394272		2203	4300	6503	SO:0001819	synonymous_variant	259307			AF293462	CCDS12786.1, CCDS12787.1	19q13.3-q13.4	2014-06-26				ENSG00000104951			19094	protein-coding gene	gene with protein product		609742				12031486	Standard	NM_152899		Approved	FIG1	uc002pqt.1	Q96RQ9		ENST00000391826.2:c.729C>T	19.37:g.50394272G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q1WMJ3|Q4GZN1|Q4GZN2|Q6P2Q3|Q8TEM5|Q96RQ8	Silent	SNP	pfam_Amino_oxidase,pfam_FAD-dep_OxRdtase,pfam_CHP00275_HI0933-like,pfam_FAD_bind_dom,pfam_Pyr_OxRdtase_NAD-bd_dom,pfam_AlaDH/PNT_NAD(H)-bd,pfam_mOase_FAD-bd,prints_Flavin_amine_oxidase	p.F265	ENST00000391826.2	37	c.795	CCDS12787.1	19																																																																																			IL4I1	-	pfam_Amino_oxidase		0.667	IL4I1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	IL4I1	HGNC	protein_coding	OTTHUMT00000466413.1	G			50394272	-1	no_errors	ENST00000341114	ensembl	human	known	70_37	silent	SNP	0.218	A
INADL	10207	genome.wustl.edu	37	1	62329999	62329999	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:62329999G>C	ENST00000371158.2	+	20	2643	c.2529G>C	c.(2527-2529)gaG>gaC	p.E843D	INADL_ENST00000316485.6_Missense_Mutation_p.E843D	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	843					cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						AACAAAAAGAGATAGAGCAAA	0.363																																																	0													73.0	73.0	73.0					1																	62329999		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.2529G>C	1.37:g.62329999G>C	ENSP00000360200:p.Glu843Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_L27,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E843D	ENST00000371158.2	37	c.2529	CCDS617.2	1	.	.	.	.	.	.	.	.	.	.	G	6.906	0.536752	0.13188	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.13089	2.75;2.62	5.17	-2.41	0.06562	.	0.540921	0.17776	N	0.162431	T	0.06645	0.0170	L	0.32530	0.975	0.21290	N	0.99974	B;B;B	0.14805	0.011;0.003;0.003	B;B;B	0.13407	0.005;0.004;0.009	T	0.44314	-0.9336	10	0.02654	T	1	.	6.797	0.23731	0.4322:0.219:0.3489:0.0	.	843;843;843	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	D	843	ENSP00000360200:E843D;ENSP00000326199:E843D	ENSP00000255202:E843D	E	+	3	2	INADL	62102587	0.079000	0.21365	0.034000	0.17996	0.927000	0.56198	-0.077000	0.11394	-0.320000	0.08640	0.555000	0.69702	GAG	INADL	-	NULL		0.363	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INADL	HGNC	protein_coding	OTTHUMT00000023639.2	G	NM_170605		62329999	+1	no_errors	ENST00000371158	ensembl	human	known	70_37	missense	SNP	0.005	C
ILF2	3608	genome.wustl.edu	37	1	153637792	153637792	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:153637792C>T	ENST00000361891.4	-	8	606	c.481G>A	c.(481-483)Gaa>Aaa	p.E161K	ILF2_ENST00000480213.1_5'Flank	NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	161	DZF. {ECO:0000255|PROSITE- ProRule:PRU01040}.				immune response (GO:0006955)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|transferase activity (GO:0016740)			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAGCCAGTTTCGTTGGTCAGC	0.383																																																	0													89.0	87.0	88.0					1																	153637792		2203	4300	6503	SO:0001583	missense	3608			U10323	CCDS1050.1, CCDS72919.1	1q21.3	2012-12-04	2012-12-04		ENSG00000143621	ENSG00000143621			6037	protein-coding gene	gene with protein product		603181	"""interleukin enhancer binding factor 2, 45kD"", ""interleukin enhancer binding factor 2, 45kDa"""			7519613	Standard	NM_004515		Approved	NF45	uc001fcr.4	Q12905	OTTHUMG00000037087	ENST00000361891.4:c.481G>A	1.37:g.153637792C>T	ENSP00000355011:p.Glu161Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDB0|B2R8G7|Q5SR10|Q5SR11|Q7L7R3|Q9BWD4|Q9P1N0	Missense_Mutation	SNP	pfam_DZF,smart_DZF,pfscan_2-5-oligoadenylate_synth_N	p.E161K	ENST00000361891.4	37	c.481	CCDS1050.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.137904	0.94517	.	.	ENSG00000143621	ENST00000361891	T	0.52295	0.67	5.79	5.79	0.91817	DZF (2);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	M	0.82517	2.595	0.80722	D	1	P;P	0.47350	0.87;0.894	B;B	0.42593	0.272;0.392	T	0.59621	-0.7420	10	0.66056	D	0.02	-10.3132	17.535	0.87827	0.0:1.0:0.0:0.0	.	161;161	F4ZW62;Q12905	.;ILF2_HUMAN	K	161	ENSP00000355011:E161K	ENSP00000355011:E161K	E	-	1	0	ILF2	151904416	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.656000	0.74396	2.739000	0.93911	0.655000	0.94253	GAA	ILF2	-	pfam_DZF,smart_DZF		0.383	ILF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ILF2	HGNC	protein_coding	OTTHUMT00000090040.1	C	NM_004515		153637792	-1	no_errors	ENST00000361891	ensembl	human	known	70_37	missense	SNP	1.000	T
INF2	64423	genome.wustl.edu	37	14	105178822	105178822	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:105178822C>T	ENST00000392634.4	+	17	2654	c.2542C>T	c.(2542-2544)Ctg>Ttg	p.L848L	INF2_ENST00000330634.7_Silent_p.L848L	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	848	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GAAGAAGCTTCTGGAGACCGA	0.652																																																	0													33.0	36.0	35.0					14																	105178822		1974	4159	6133	SO:0001819	synonymous_variant	64423			AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.2542C>T	14.37:g.105178822C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_WH2_dom,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg,pfscan_WH2_dom	p.L848	ENST00000392634.4	37	c.2542	CCDS9989.2	14																																																																																			INF2	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.652	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INF2	HGNC	protein_coding	OTTHUMT00000074371.4	C	NM_022489		105178822	+1	no_errors	ENST00000392634	ensembl	human	known	70_37	silent	SNP	0.926	T
INO80	54617	genome.wustl.edu	37	15	41346164	41346164	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:41346164C>G	ENST00000361937.3	-	19	2661	c.2237G>C	c.(2236-2238)aGa>aCa	p.R746T	INO80_ENST00000401393.3_Missense_Mutation_p.R746T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	746	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				ATP catabolic process (GO:0006200)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|chromatin remodeling (GO:0006338)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|mitotic sister chromatid segregation (GO:0000070)|positive regulation of cell growth (GO:0030307)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|spindle assembly (GO:0051225)|UV-damage excision repair (GO:0070914)	Ino80 complex (GO:0031011)|microtubule (GO:0005874)|nucleus (GO:0005634)	alpha-tubulin binding (GO:0043014)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TTTCTTGATTCTCCTCAGCAT	0.388																																																	0													124.0	112.0	116.0					15																	41346164		2203	4300	6503	SO:0001583	missense	54617			AB033085	CCDS10071.1	15q15.1	2013-08-21	2013-08-21	2008-08-07	ENSG00000128908	ENSG00000128908	3.6.1.3	"""INO80 complex subunits"""	26956	protein-coding gene	gene with protein product	"""INO80 complex subunit A"""	610169	"""INO80 complex homolog 1 (S. cerevisiae)"", ""INO80 homolog (S. cerevisiae)"""	INOC1		16298340, 16230350, 20237820	Standard	NM_017553		Approved	KIAA1259, Ino80, hINO80, INO80A	uc001zni.3	Q9ULG1	OTTHUMG00000130209	ENST00000361937.3:c.2237G>C	15.37:g.41346164C>G	ENSP00000355205:p.Arg746Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X4|Q9NTG6	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.R746T	ENST00000361937.3	37	c.2237	CCDS10071.1	15	.	.	.	.	.	.	.	.	.	.	C	29.6	5.019266	0.93462	.	.	ENSG00000128908	ENST00000361937;ENST00000401393	D;D	0.99961	-9.38;-9.38	5.0	5.0	0.66597	SNF2-related (1);	0.000000	0.85682	D	0.000000	D	0.99975	0.9992	H	0.98487	4.245	0.80722	D	1	D	0.62365	0.991	D	0.78314	0.991	D	0.97314	0.9939	10	0.87932	D	0	.	18.8388	0.92174	0.0:1.0:0.0:0.0	.	746	Q9ULG1	INO80_HUMAN	T	746	ENSP00000355205:R746T;ENSP00000384686:R746T	ENSP00000355205:R746T	R	-	2	0	INO80	39133456	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.535000	0.82014	2.741000	0.93983	0.557000	0.71058	AGA	INO80	-	pfam_SNF2_N		0.388	INO80-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INO80	HGNC	protein_coding	OTTHUMT00000252527.2	C	NM_017553		41346164	-1	no_errors	ENST00000361937	ensembl	human	known	70_37	missense	SNP	1.000	G
INPP4A	3631	genome.wustl.edu	37	2	99182575	99182575	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:99182575G>A	ENST00000523221.1	+	20	2378	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	INPP4A_ENST00000545415.1_Missense_Mutation_p.R754Q|INPP4A_ENST00000409016.4_Missense_Mutation_p.R754Q|INPP4A_ENST00000074304.5_Missense_Mutation_p.R793Q|INPP4A_ENST00000409463.1_Missense_Mutation_p.R122Q|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000409540.3_Missense_Mutation_p.R754Q|INPP4A_ENST00000409851.3_Missense_Mutation_p.R788Q			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	793					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						ATGCTGCTGCGAGTGCAGCCC	0.667																																																	0													16.0	18.0	17.0					2																	99182575		2017	4170	6187	SO:0001583	missense	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2378G>A	2.37:g.99182575G>A	ENSP00000427722:p.Arg793Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.R793Q	ENST00000523221.1	37	c.2378	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	G	36	5.717105	0.96839	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.43294	1.89;2.21;0.95;2.21;1.89;1.87;2.21	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.60314	0.2259	L	0.52206	1.635	0.80722	D	1	D;D;P;D;D	0.89917	0.999;0.999;0.881;1.0;1.0	D;D;P;D;D	0.85130	0.962;0.993;0.576;0.997;0.994	T	0.58651	-0.7599	10	0.51188	T	0.08	-25.2744	17.9496	0.89048	0.0:0.0:1.0:0.0	.	754;754;122;793;788	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	Q	754;788;122;793;754;754;793	ENSP00000386704:R754Q;ENSP00000386777:R788Q;ENSP00000386329:R122Q;ENSP00000074304:R793Q;ENSP00000442149:R754Q;ENSP00000387294:R754Q;ENSP00000427722:R793Q	ENSP00000074304:R793Q	R	+	2	0	INPP4A	98549007	1.000000	0.71417	0.998000	0.56505	0.883000	0.51084	9.657000	0.98554	2.732000	0.93576	0.650000	0.86243	CGA	INPP4A	-	NULL		0.667	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	G	NM_001566		99182575	+1	no_errors	ENST00000074304	ensembl	human	known	70_37	missense	SNP	1.000	A
INPP4B	8821	genome.wustl.edu	37	4	143003309	143003309	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:143003309G>T	ENST00000513000.1	-	26	2950	c.2517C>A	c.(2515-2517)ttC>ttA	p.F839L	INPP4B_ENST00000508116.1_Missense_Mutation_p.F839L|INPP4B_ENST00000509777.1_Missense_Mutation_p.F839L|INPP4B_ENST00000308502.4_Missense_Mutation_p.F839L|INPP4B_ENST00000262992.4_Missense_Mutation_p.F839L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	839					cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TACAACAGGTGAAACGAATAC	0.408																																																	0													159.0	139.0	146.0					4																	143003309		2203	4300	6503	SO:0001583	missense	8821			U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.2517C>A	4.37:g.143003309G>T	ENSP00000425487:p.Phe839Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.F839L	ENST00000513000.1	37	c.2517	CCDS3757.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.94|16.94	3.260795|3.260795	0.59431|0.59431	.|.	.|.	ENSG00000109452|ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000511838|ENST00000542702	T;T;T;T;T;T|.	0.22134|.	1.98;1.98;1.98;1.98;1.97;1.97|.	5.82|5.82	3.83|3.83	0.44106|0.44106	.|.	0.052811|.	0.85682|.	D|.	0.000000|.	T|T	0.64260|0.64260	0.2582|0.2582	L|L	0.56769|0.56769	1.78|1.78	0.58432|0.58432	D|D	0.999999|0.999999	B|.	0.18166|.	0.026|.	B|.	0.14578|.	0.011|.	T|T	0.67604|0.67604	-0.5628|-0.5628	10|6	0.22706|0.87932	T|D	0.39|0	.|.	11.0632|11.0632	0.47959|0.47959	0.2004:0.0:0.7996:0.0|0.2004:0.0:0.7996:0.0	.|.	839|.	O15327|.	INP4B_HUMAN|.	L|N	839;839;839;839;839;654|654	ENSP00000425487:F839L;ENSP00000262992:F839L;ENSP00000308441:F839L;ENSP00000423954:F839L;ENSP00000422793:F839L;ENSP00000426207:F654L|.	ENSP00000262992:F839L|ENSP00000446046:H654N	F|H	-|-	3|1	2|0	INPP4B|INPP4B	143222759|143222759	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.441000|2.441000	0.44864|0.44864	1.448000|1.448000	0.47680|0.47680	0.650000|0.650000	0.86243|0.86243	TTC|CAC	INPP4B	-	NULL		0.408	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INPP4B	HGNC	protein_coding	OTTHUMT00000364587.1	G	NM_003866		143003309	-1	no_errors	ENST00000509777	ensembl	human	known	70_37	missense	SNP	1.000	T
INPP5B	3633	genome.wustl.edu	37	1	38397237	38397237	+	Intron	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:38397237C>A	ENST00000373026.1	-	6	773				INPP5B_ENST00000373024.3_Intron|INPP5B_ENST00000373023.2_Intron|INPP5B_ENST00000373021.1_Nonsense_Mutation_p.E294*|INPP5B_ENST00000373027.1_Intron			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa						in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTTTGGTCTTCGCCCCGAGCG	0.706																																																	0																																										SO:0001627	intron_variant	3633			M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.772+107G>T	1.37:g.38397237C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Nonsense_Mutation	SNP	NULL	p.E294*	ENST00000373026.1	37	c.880		1	.	.	.	.	.	.	.	.	.	.	C	18.89	3.719723	0.68844	.	.	ENSG00000204084	ENST00000373021	.	.	.	4.53	-1.89	0.07689	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999994	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	4.2491	0.10686	0.0:0.34:0.3168:0.3433	.	.	.	.	X	294	.	ENSP00000362112:E294X	E	-	1	0	INPP5B	38169824	0.001000	0.12720	0.000000	0.03702	0.004000	0.04260	-0.363000	0.07593	-0.449000	0.07117	0.563000	0.77884	GAA	INPP5B	-	NULL		0.706	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	INPP5B	HGNC	protein_coding	OTTHUMT00000012968.1	C	NM_005540		38397237	-1	no_errors	ENST00000373021	ensembl	human	known	70_37	nonsense	SNP	0.001	A
IPO8	10526	genome.wustl.edu	37	12	30792516	30792516	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:30792516G>T	ENST00000256079.4	-	21	2760	c.2422C>A	c.(2422-2424)Cac>Aac	p.H808N	IPO8_ENST00000544829.1_Missense_Mutation_p.H603N	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	808					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)	p.H808Y(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCAGGGTTGTGAGGCAACTGA	0.388																																																	1	Substitution - Missense(1)	endometrium(1)											174.0	160.0	165.0					12																	30792516		2203	4300	6503	SO:0001583	missense	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.2422C>A	12.37:g.30792516G>T	ENSP00000256079:p.His808Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7M3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.H808N	ENST00000256079.4	37	c.2422	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	G	4.020	0.001121	0.07819	.	.	ENSG00000133704	ENST00000256079;ENST00000545286;ENST00000544829	T;T	0.40476	1.03;1.03	5.04	5.04	0.67666	Armadillo-like helical (1);Armadillo-type fold (1);	0.049474	0.85682	D	0.000000	T	0.40222	0.1108	N	0.05351	-0.065	0.51012	D	0.999909	B;D;B	0.69078	0.001;0.997;0.001	B;D;B	0.71414	0.004;0.973;0.001	T	0.17289	-1.0374	10	0.02654	T	1	-14.889	18.3649	0.90388	0.0:0.0:1.0:0.0	.	603;284;808	B7Z7M3;Q59F59;O15397	.;.;IPO8_HUMAN	N	808;284;603	ENSP00000256079:H808N;ENSP00000444520:H603N	ENSP00000256079:H808N	H	-	1	0	IPO8	30683783	0.996000	0.38824	1.000000	0.80357	0.989000	0.77384	2.292000	0.43549	2.348000	0.79779	0.557000	0.71058	CAC	IPO8	-	superfamily_ARM-type_fold		0.388	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	G	NM_006390		30792516	-1	no_errors	ENST00000256079	ensembl	human	known	70_37	missense	SNP	0.998	T
IPO8	10526	genome.wustl.edu	37	12	30826980	30826980	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:30826980C>G	ENST00000256079.4	-	8	1191	c.853G>C	c.(853-855)Gaa>Caa	p.E285Q	IPO8_ENST00000544829.1_Missense_Mutation_p.E80Q	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	285					intracellular protein transport (GO:0006886)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	Ran GTPase binding (GO:0008536)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGTATTCTTTTGTGACA	0.294																																																	0													44.0	47.0	46.0					12																	30826980		2202	4294	6496	SO:0001583	missense	10526			U77494	CCDS8719.1, CCDS53773.1	12p11.21	2011-05-23	2003-03-11	2003-03-14	ENSG00000133704	ENSG00000133704		"""Importins"""	9853	protein-coding gene	gene with protein product		605600	"""RAN binding protein 8"""	RANBP8		9214382	Standard	NM_006390		Approved	IMP8	uc001rjd.3	O15397	OTTHUMG00000169172	ENST00000256079.4:c.853G>C	12.37:g.30826980C>G	ENSP00000256079:p.Glu285Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7M3	Missense_Mutation	SNP	pfam_Importin-beta_N,pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_Importin-beta_N	p.E285Q	ENST00000256079.4	37	c.853	CCDS8719.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.805081	0.90623	.	.	ENSG00000133704	ENST00000256079;ENST00000544829;ENST00000542464	T;T	0.52295	1.71;0.67	4.6	4.6	0.57074	Armadillo-like helical (1);Armadillo-type fold (1);Exportin/Importin, Cse1-like (1);	0.048728	0.85682	D	0.000000	T	0.64560	0.2609	M	0.75777	2.31	0.80722	D	1	P;P	0.51240	0.943;0.885	P;P	0.57548	0.823;0.771	T	0.64183	-0.6467	10	0.35671	T	0.21	-22.565	17.9712	0.89113	0.0:1.0:0.0:0.0	.	80;285	B7Z7M3;O15397	.;IPO8_HUMAN	Q	285;80;99	ENSP00000256079:E285Q;ENSP00000444520:E80Q	ENSP00000256079:E285Q	E	-	1	0	IPO8	30718247	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.410000	0.80065	2.541000	0.85698	0.655000	0.94253	GAA	IPO8	-	pfam_Exportin/Importin_Cse1-like,superfamily_ARM-type_fold		0.294	IPO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO8	HGNC	protein_coding	OTTHUMT00000402700.2	C	NM_006390		30826980	-1	no_errors	ENST00000256079	ensembl	human	known	70_37	missense	SNP	1.000	G
IQCD	115811	genome.wustl.edu	37	12	113638562	113638562	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:113638562G>C	ENST00000416617.2	-	3	976	c.786C>G	c.(784-786)ctC>ctG	p.L262L	IQCD_ENST00000546692.1_Silent_p.L262L|IQCD_ENST00000299732.2_Intron			Q96DY2	IQCD_HUMAN	IQ motif containing D	262										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CTGAGAACTTGAGCACCTGGT	0.537																																																	0																																										SO:0001819	synonymous_variant	115811			BC013151	CCDS9167.1	12q24.21	2014-07-18				ENSG00000166578			25168	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 10"""					23427265, 24804578	Standard	NM_138451		Approved	DRC10, CFAP84	uc001tuu.3	Q96DY2		ENST00000416617.2:c.786C>G	12.37:g.113638562G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSU0	Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.L262	ENST00000416617.2	37	c.786		12																																																																																			IQCD	-	NULL		0.537	IQCD-004	KNOWN	not_organism_supported|basic|appris_candidate_longest	protein_coding	IQCD	HGNC	protein_coding	OTTHUMT00000405327.1	G	NM_138451		113638562	-1	no_errors	ENST00000416617	ensembl	human	known	70_37	silent	SNP	0.996	C
IQCH	64799	genome.wustl.edu	37	15	67692531	67692531	+	Missense_Mutation	SNP	G	G	A	rs146418351		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:67692531G>A	ENST00000335894.4	+	14	2051	c.1985G>A	c.(1984-1986)cGa>cAa	p.R662Q	IQCH_ENST00000546225.1_Missense_Mutation_p.R319Q|IQCH_ENST00000358767.3_Missense_Mutation_p.R398Q|IQCH_ENST00000360277.4_Missense_Mutation_p.R323Q	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	662										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		TCTGAGTTCCGAGGAAATGGG	0.453																																																	0													132.0	122.0	126.0					15																	67692531		2201	4299	6500	SO:0001583	missense	64799			AY014282	CCDS10223.1, CCDS32273.1, CCDS10223.2, CCDS61680.1, CCDS61681.1	15q23	2005-10-24			ENSG00000103599	ENSG00000103599			25721	protein-coding gene	gene with protein product		612523				12477932	Standard	NM_022784		Approved	FLJ12476	uc002aqo.2	Q86VS3	OTTHUMG00000133231	ENST00000335894.4:c.1985G>A	15.37:g.67692531G>A	ENSP00000336861:p.Arg662Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8W3|C9JPR6|D6RJ88|Q4G0S6|Q8NEH9|Q9BWX2|Q9H9Y1|Q9UF88	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.R662Q	ENST00000335894.4	37	c.1985	CCDS32273.1	15	.	.	.	.	.	.	.	.	.	.	G	10.79	1.450143	0.26074	.	.	ENSG00000103599	ENST00000358767;ENST00000546225;ENST00000335894;ENST00000360277	T;T;T;T	0.41065	1.01;1.02;1.01;1.01	5.24	2.11	0.27256	.	0.314324	0.33005	N	0.005397	T	0.23572	0.0570	N	0.22421	0.69	0.23685	N	0.997111	B;B;B	0.21520	0.033;0.057;0.01	B;B;B	0.13407	0.009;0.009;0.002	T	0.16335	-1.0406	10	0.18710	T	0.47	-1.0859	8.0288	0.30453	0.1538:0.1276:0.7186:0.0	.	319;323;662	Q86VS3-2;Q86VS3-4;Q86VS3	.;.;IQCH_HUMAN	Q	398;319;662;323	ENSP00000351617:R398Q;ENSP00000444118:R319Q;ENSP00000336861:R662Q;ENSP00000353419:R323Q	ENSP00000336861:R662Q	R	+	2	0	IQCH	65479585	1.000000	0.71417	0.982000	0.44146	0.473000	0.32948	4.939000	0.63526	0.507000	0.28148	-1.058000	0.02302	CGA	IQCH	-	NULL		0.453	IQCH-002	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCH	HGNC	protein_coding	OTTHUMT00000256969.1	G	NM_022784		67692531	+1	no_errors	ENST00000335894	ensembl	human	known	70_37	missense	SNP	1.000	A
IQGAP2	10788	genome.wustl.edu	37	5	75970513	75970513	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:75970513C>G	ENST00000274364.6	+	27	3803	c.3506C>G	c.(3505-3507)tCa>tGa	p.S1169*	IQGAP2_ENST00000379730.3_Nonsense_Mutation_p.S671*|IQGAP2_ENST00000502745.1_Nonsense_Mutation_p.S665*|IQGAP2_ENST00000396234.3_Nonsense_Mutation_p.S665*	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1169					negative regulation of catalytic activity (GO:0043086)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|microvillus (GO:0005902)	actin binding (GO:0003779)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AATTATTTATCAGAGACGTAT	0.443																																																	0													66.0	65.0	65.0					5																	75970513		2203	4300	6503	SO:0001587	stop_gained	10788			U51903	CCDS34188.1, CCDS68897.1, CCDS68898.1, CCDS75262.1	5q	2008-07-18			ENSG00000145703	ENSG00000145703			6111	protein-coding gene	gene with protein product		605401				8756646	Standard	XM_005248409		Approved		uc003kek.3	Q13576	OTTHUMG00000162432	ENST00000274364.6:c.3506C>G	5.37:g.75970513C>G	ENSP00000274364:p.Ser1169*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4V1|B7Z8A4|J3KR91	Nonsense_Mutation	SNP	pfam_RasGAP,pfam_RasGAP_C,pfam_IQ_motif_EF-hand-BS,pfam_CH-domain,superfamily_Rho_GTPase_activation_prot,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_IQ_motif_EF-hand-BS,smart_RasGAP,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS,pfscan_WW_Rsp5_WWP,pfscan_RasGAP	p.S1169*	ENST00000274364.6	37	c.3506	CCDS34188.1	5	.	.	.	.	.	.	.	.	.	.	C	28.6	4.932122	0.92389	.	.	ENSG00000145703	ENST00000274364;ENST00000379730;ENST00000505766;ENST00000396234;ENST00000502745	.	.	.	5.67	5.67	0.87782	.	0.126644	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	-5.2268	19.7552	0.96285	0.0:1.0:0.0:0.0	.	.	.	.	X	1169;671;1119;665;665	.	ENSP00000274364:S1169X	S	+	2	0	IQGAP2	76006269	1.000000	0.71417	0.982000	0.44146	0.529000	0.34654	7.818000	0.86416	2.679000	0.91253	0.591000	0.81541	TCA	IQGAP2	-	superfamily_Rho_GTPase_activation_prot,smart_RasGAP		0.443	IQGAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQGAP2	HGNC	protein_coding	OTTHUMT00000368877.1	C	NM_006633		75970513	+1	no_errors	ENST00000274364	ensembl	human	known	70_37	nonsense	SNP	1.000	G
IQSEC1	9922	genome.wustl.edu	37	3	12977762	12977762	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:12977762C>T	ENST00000273221.4	-	3	1012	c.796G>A	c.(796-798)Gag>Aag	p.E266K	IQSEC1_ENST00000473088.1_5'Flank	NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	266					actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleolus (GO:0005730)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GGTGCCTCCTCAGTGTGCAGG	0.662																																																	0													66.0	65.0	65.0					3																	12977762		2203	4300	6503	SO:0001583	missense	9922			BC010267	CCDS33703.1, CCDS74902.1	3p25.2	2011-09-23			ENSG00000144711	ENSG00000144711			29112	protein-coding gene	gene with protein product	"""brefeldin A-resistant ARF-GEF2"""	610166				9872452, 8619474	Standard	NM_001134382		Approved	KIAA0763, GEP100, BRAG2, ARF-GEP100	uc011auw.2	Q6DN90	OTTHUMG00000155398	ENST00000273221.4:c.796G>A	3.37:g.12977762C>T	ENSP00000273221:p.Glu266Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O94863|Q96D85	Missense_Mutation	SNP	pfam_Sec7,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_IQ_motif_EF-hand-BS,pfscan_Sec7	p.E266K	ENST00000273221.4	37	c.796	CCDS33703.1	3	.	.	.	.	.	.	.	.	.	.	C	14.23	2.474527	0.43942	.	.	ENSG00000144711	ENST00000273221;ENST00000435445;ENST00000429247	T;T	0.60548	0.18;0.18	4.86	4.86	0.63082	.	1.214490	0.05846	N	0.620373	T	0.39835	0.1093	.	.	.	0.46222	D	0.99893	P;P;B	0.44627	0.736;0.839;0.203	B;B;B	0.32928	0.08;0.155;0.05	T	0.47328	-0.9126	9	0.07990	T	0.79	.	18.1623	0.89712	0.0:1.0:0.0:0.0	.	252;252;266	E9PG60;C9JMG9;Q6DN90	.;.;IQEC1_HUMAN	K	266;252;252	ENSP00000273221:E266K;ENSP00000402299:E252K	ENSP00000273221:E266K	E	-	1	0	IQSEC1	12952762	1.000000	0.71417	0.945000	0.38365	0.064000	0.16182	7.321000	0.79088	2.515000	0.84797	0.655000	0.94253	GAG	IQSEC1	-	NULL		0.662	IQSEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQSEC1	HGNC	protein_coding	OTTHUMT00000339865.2	C	NM_014869		12977762	-1	no_errors	ENST00000273221	ensembl	human	known	70_37	missense	SNP	1.000	T
IRAK1	3654	genome.wustl.edu	37	X	153282449	153282449	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153282449G>A	ENST00000369980.3	-	8	1146	c.979C>T	c.(979-981)Cag>Tag	p.Q327*	MIR718_ENST00000390190.2_RNA|IRAK1_ENST00000393687.2_Nonsense_Mutation_p.Q327*|IRAK1_ENST00000369974.2_Nonsense_Mutation_p.Q327*|IRAK1_ENST00000429936.2_Nonsense_Mutation_p.Q353*|IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000393682.1_Nonsense_Mutation_p.Q353*	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	327	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTAGAAACTGAATTGCCCGG	0.637																																																	0													105.0	98.0	100.0					X																	153282449		2203	4300	6503	SO:0001587	stop_gained	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.979C>T	X.37:g.153282449G>A	ENSP00000358997:p.Gln327*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.Q327*	ENST00000369980.3	37	c.979	CCDS14740.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	41|41	8.648120|8.648120	0.98899|0.98899	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974;ENST00000393682;ENST00000393687;ENST00000429936|ENST00000443220	.|.	.|.	.|.	4.93|4.93	4.93|4.93	0.64822|0.64822	.|.	0.288301|.	0.25472|.	N|.	0.030437|.	.|T	.|0.71256	.|0.3318	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74728	.|-0.3567	.|3	0.48119|.	T|.	0.1|.	-20.7514|-20.7514	16.043|16.043	0.80698|0.80698	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|L	327;327;353;327;353|97	.|.	ENSP00000358991:Q327X|.	Q|S	-|-	1|2	0|0	IRAK1|IRAK1	152935643|152935643	1.000000|1.000000	0.71417|0.71417	0.822000|0.822000	0.32727|0.32727	0.901000|0.901000	0.52897|0.52897	8.017000|8.017000	0.88712|0.88712	2.035000|2.035000	0.60131|0.60131	0.529000|0.529000	0.55759|0.55759	CAG|TCA	IRAK1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.637	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	G			153282449	-1	no_errors	ENST00000369980	ensembl	human	known	70_37	nonsense	SNP	0.999	A
IRF2BPL	64207	genome.wustl.edu	37	14	77492702	77492702	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:77492702G>A	ENST00000238647.3	-	1	2332	c.1434C>T	c.(1432-1434)ctC>ctT	p.L478L		NM_024496.3	NP_078772.1	Q9H1B7	I2BPL_HUMAN	interferon regulatory factor 2 binding protein-like	478					development of secondary female sexual characteristics (GO:0046543)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	extracellular space (GO:0005615)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	11						CGGCTTCGGGGAGCAGGTCTC	0.657																																																	0													13.0	14.0	14.0					14																	77492702		2200	4296	6496	SO:0001819	synonymous_variant	64207			AJ277365	CCDS9854.1	14q24.3	2011-02-23	2011-02-23	2011-02-23	ENSG00000119669	ENSG00000119669			14282	protein-coding gene	gene with protein product	"""enhanced at puberty 1"""	611720	"""chromosome 14 open reading frame 4"""	C14orf4		11095982, 17627301	Standard	NM_024496		Approved	EAP1, KIAA1865	uc001xsy.4	Q9H1B7		ENST00000238647.3:c.1434C>T	14.37:g.77492702G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDQ2|Q96JG2|Q9H3I7	Silent	SNP	pfam_Interferon_reg_fac2-bd1_2_Znf	p.L478	ENST00000238647.3	37	c.1434	CCDS9854.1	14																																																																																			IRF2BPL	-	pfam_Interferon_reg_fac2-bd1_2_Znf		0.657	IRF2BPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRF2BPL	HGNC	protein_coding	OTTHUMT00000414298.1	G	NM_024496		77492702	-1	no_errors	ENST00000238647	ensembl	human	known	70_37	silent	SNP	0.908	A
IRS4	8471	genome.wustl.edu	37	X	107979074	107979074	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:107979074G>A	ENST00000372129.2	-	1	577	c.501C>T	c.(499-501)ctC>ctT	p.L167L	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	167	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGAGCAATGAGGTGTCGGT	0.597																																																	0													74.0	60.0	65.0					X																	107979074		2203	4300	6503	SO:0001819	synonymous_variant	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.501C>T	X.37:g.107979074G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.L167	ENST00000372129.2	37	c.501	CCDS14544.1	X																																																																																			IRS4	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.597	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	G	NM_003604		107979074	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	silent	SNP	1.000	A
ISYNA1	51477	genome.wustl.edu	37	19	18547798	18547798	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:18547798C>T	ENST00000338128.8	-	4	617	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ISYNA1_ENST00000317018.6_5'UTR|ISYNA1_ENST00000457269.4_Missense_Mutation_p.D80N|ISYNA1_ENST00000578963.1_Missense_Mutation_p.D6N|ISYNA1_ENST00000545187.1_Intron	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1	134					inositol biosynthetic process (GO:0006021)|inositol phosphate metabolic process (GO:0043647)|phospholipid biosynthetic process (GO:0008654)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	inositol-3-phosphate synthase activity (GO:0004512)			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						AACACGAGGTCGTTGGGCGCC	0.721																																																	0													18.0	20.0	19.0					19																	18547798		2198	4289	6487	SO:0001583	missense	51477				CCDS12379.1, CCDS54234.1, CCDS62603.1	19p13.11	2014-09-04			ENSG00000105655	ENSG00000105655	5.5.1.4		29821	protein-coding gene	gene with protein product	"""myo-inositol 1-phosphate synthase"""	611670				15024000, 12941308	Standard	NM_016368		Approved	Ino1, INOS, IPS	uc002njd.2	Q9NPH2	OTTHUMG00000179027	ENST00000338128.8:c.400G>A	19.37:g.18547798C>T	ENSP00000337746:p.Asp134Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRT1|G5E9U0|Q6NXT5|Q7Z525|Q9BT65|Q9H2Y2|Q9NSU0|Q9NVW7	Missense_Mutation	SNP	pfam_Myo-inos-1-P_Synthase,pfam_Myo-inos-1-P_Synthase_GAPDH,pirsf_Myo-inos-1-P_Synthase	p.D134N	ENST00000338128.8	37	c.400	CCDS12379.1	19	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046040	0.75846	.	.	ENSG00000105655	ENST00000338128;ENST00000457269	.	.	.	3.89	3.89	0.44902	NAD(P)-binding domain (1);	0.060505	0.64402	D	0.000008	T	0.56572	0.1994	M	0.74647	2.275	0.80722	D	1	P;P	0.43542	0.671;0.81	B;B	0.37692	0.18;0.256	T	0.65274	-0.6208	9	0.45353	T	0.12	-47.9926	14.9851	0.71342	0.0:1.0:0.0:0.0	.	80;134	G5E9U0;Q9NPH2	.;INO1_HUMAN	N	134;80	.	ENSP00000337746:D134N	D	-	1	0	ISYNA1	18408798	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	3.303000	0.51858	2.187000	0.69744	0.556000	0.70494	GAC	ISYNA1	-	pfam_Myo-inos-1-P_Synthase,pirsf_Myo-inos-1-P_Synthase		0.721	ISYNA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ISYNA1	HGNC	protein_coding	OTTHUMT00000444469.2	C	NM_016368		18547798	-1	no_errors	ENST00000338128	ensembl	human	known	70_37	missense	SNP	1.000	T
ITFG3	83986	genome.wustl.edu	37	16	310063	310063	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:310063G>C	ENST00000399932.3	+	5	932	c.481G>C	c.(481-483)Gag>Cag	p.E161Q	ITFG3_ENST00000301679.2_Missense_Mutation_p.E161Q|ITFG3_ENST00000600536.1_Missense_Mutation_p.E161Q|ITFG3_ENST00000450082.2_Missense_Mutation_p.E161Q|ITFG3_ENST00000442458.2_Missense_Mutation_p.E161Q|ITFG3_ENST00000301678.3_Missense_Mutation_p.E161Q	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	161						cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				GGCCCTCGTGGAGTGTGCTGT	0.602																																																	0													54.0	59.0	57.0					16																	310063		2097	4208	6305	SO:0001583	missense	83986			AL136542	CCDS10402.1	16p13.3	2006-03-31	2006-03-31	2006-03-31	ENSG00000167930	ENSG00000167930			14163	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 9"""	C16orf9			Standard	XM_005255622		Approved	DKFZP761D0211, FLJ32603	uc002cgf.3	Q9H0X4	OTTHUMG00000060728	ENST00000399932.3:c.481G>C	16.37:g.310063G>C	ENSP00000382814:p.Glu161Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU45|Q7L416|Q96FR1|Q96MC7|Q96S30	Missense_Mutation	SNP	superfamily_Quinonprotein_ADH-like	p.E161Q	ENST00000399932.3	37	c.481	CCDS10402.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.663|6.663	0.490897|0.490897	0.12702|0.12702	.|.	.|.	ENSG00000167930|ENSG00000167930	ENST00000399932;ENST00000301679;ENST00000453430;ENST00000442458;ENST00000449945;ENST00000420046;ENST00000301678;ENST00000450082|ENST00000421000	T;T;T;T;T;T;T;T|.	0.56776|.	0.44;0.44;0.44;0.44;0.44;0.44;0.44;0.44|.	4.9|4.9	-3.6|-3.6	0.04570|0.04570	Quinonprotein alcohol dehydrogenase-like (1);|.	0.861229|.	0.10470|.	N|.	0.670924|.	T|T	0.26448|0.26448	0.0646|0.0646	N|N	0.20530|0.20530	0.585|0.585	0.18873|0.18873	N|N	0.999987|0.999987	B;B|.	0.13594|.	0.008;0.008|.	B;B|.	0.15052|.	0.012;0.007|.	T|T	0.34625|0.34625	-0.9821|-0.9821	10|5	0.11794|.	T|.	0.64|.	-14.7786|-14.7786	9.9128|9.9128	0.41417|0.41417	0.1666:0.5394:0.294:0.0|0.1666:0.5394:0.294:0.0	.|.	161;161|.	Q9H0X4-2;Q9H0X4|.	.;ITFG3_HUMAN|.	Q|C	161;161;161;161;152;161;161;161|89	ENSP00000382814:E161Q;ENSP00000301679:E161Q;ENSP00000399150:E161Q;ENSP00000397477:E161Q;ENSP00000407669:E152Q;ENSP00000398433:E161Q;ENSP00000301678:E161Q;ENSP00000411394:E161Q|.	ENSP00000301678:E161Q|.	E|W	+|+	1|3	0|0	ITFG3|ITFG3	250064|250064	0.057000|0.057000	0.20700|0.20700	0.005000|0.005000	0.12908|0.12908	0.093000|0.093000	0.18481|0.18481	-0.025000|-0.025000	0.12413|0.12413	-0.398000|-0.398000	0.07679|0.07679	-0.345000|-0.345000	0.07892|0.07892	GAG|TGG	ITFG3	-	superfamily_Quinonprotein_ADH-like		0.602	ITFG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITFG3	HGNC	protein_coding	OTTHUMT00000134227.2	G	NM_032039		310063	+1	no_errors	ENST00000301678	ensembl	human	known	70_37	missense	SNP	0.010	C
ITGB1BP2	26548	genome.wustl.edu	37	X	70521661	70521661	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:70521661C>G	ENST00000373829.3	+	1	78	c.5C>G	c.(4-6)tCt>tGt	p.S2C	ITGB1BP2_ENST00000538820.1_5'UTR	NM_012278.1	NP_036410.1	Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	2					muscle organ development (GO:0007517)|signal transduction (GO:0007165)	Z disc (GO:0030018)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					GCTTCCATGTCTCTACTCTGT	0.512																																																	0													80.0	71.0	74.0					X																	70521661		2203	4300	6503	SO:0001583	missense	26548			AF140690	CCDS14411.1	Xq12.1-q13	2008-02-05			ENSG00000147166	ENSG00000147166			6154	protein-coding gene	gene with protein product		300332				10506186	Standard	XM_005262255		Approved	CHORDC3	uc004dzr.1	Q9UKP3	OTTHUMG00000021793	ENST00000373829.3:c.5C>G	X.37:g.70521661C>G	ENSP00000362935:p.Ser2Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32N04|Q549J7	Missense_Mutation	SNP	pfam_CHORD,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain	p.S2C	ENST00000373829.3	37	c.5	CCDS14411.1	X	.	.	.	.	.	.	.	.	.	.	c	17.87	3.494003	0.64186	.	.	ENSG00000147166	ENST00000373829	.	.	.	4.9	4.9	0.64082	Cysteine/histidine-rich domain (1);	0.110603	0.64402	D	0.000008	T	0.71178	0.3309	M	0.65498	2.005	0.39565	D	0.969182	D	0.65815	0.995	D	0.65684	0.937	T	0.75797	-0.3191	9	0.87932	D	0	-10.4641	12.1854	0.54236	0.0:1.0:0.0:0.0	.	2	Q9UKP3	ITBP2_HUMAN	C	2	.	ENSP00000362935:S2C	S	+	2	0	ITGB1BP2	70438386	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	4.084000	0.57650	2.265000	0.75225	0.600000	0.82982	TCT	ITGB1BP2	-	pfam_CHORD		0.512	ITGB1BP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB1BP2	HGNC	protein_coding	OTTHUMT00000057126.1	C	NM_012278		70521661	+1	no_errors	ENST00000373829	ensembl	human	known	70_37	missense	SNP	1.000	G
ITIH2	3698	genome.wustl.edu	37	10	7759602	7759602	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:7759602G>C	ENST00000358415.4	+	6	647	c.481G>C	c.(481-483)Gat>Cat	p.D161H	ITIH2_ENST00000480387.1_3'UTR|ITIH2_ENST00000379587.4_Missense_Mutation_p.D150H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	161	VIT. {ECO:0000255|PROSITE- ProRule:PRU00801}.				hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CAGCGCTCTTGATATGGAAAA	0.483																																																	0													161.0	171.0	168.0					10																	7759602		2203	4300	6503	SO:0001583	missense	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.481G>C	10.37:g.7759602G>C	ENSP00000351190:p.Asp161His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14659|Q15484|Q5T986	Missense_Mutation	SNP	pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A	p.D161H	ENST00000358415.4	37	c.481	CCDS31141.1	10	.	.	.	.	.	.	.	.	.	.	G	14.78	2.637222	0.47049	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.24538	1.85;1.85;1.85	5.34	5.34	0.76211	Vault protein inter-alpha-trypsin (2);Vault protein inter-alpha-trypsin, metazoa (1);	0.051743	0.85682	D	0.000000	T	0.53674	0.1811	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.53837	-0.8382	10	0.49607	T	0.09	-27.5984	19.0542	0.93056	0.0:0.0:1.0:0.0	.	161	P19823	ITIH2_HUMAN	H	161;136;150	ENSP00000351190:D161H;ENSP00000388826:D136H;ENSP00000368906:D150H	ENSP00000351190:D161H	D	+	1	0	ITIH2	7799608	1.000000	0.71417	0.726000	0.30738	0.012000	0.07955	9.417000	0.97391	2.484000	0.83849	0.563000	0.77884	GAT	ITIH2	-	pfam_VIT,smart_VIT		0.483	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITIH2	HGNC	protein_coding	OTTHUMT00000046678.2	G	NM_002216		7759602	+1	no_errors	ENST00000358415	ensembl	human	known	70_37	missense	SNP	0.996	C
ITPR1	3708	genome.wustl.edu	37	3	4836777	4836777	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:4836777C>T	ENST00000443694.2	+	50	6792	c.6792C>T	c.(6790-6792)cgC>cgT	p.R2264R	ITPR1_ENST00000357086.4_Silent_p.R2231R|ITPR1_ENST00000456211.2_Silent_p.R2216R|ITPR1_ENST00000423119.2_Silent_p.R2231R|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000354582.6_Silent_p.R2264R|ITPR1_ENST00000302640.8_Silent_p.R2264R			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2279					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|negative regulation of calcium-mediated signaling (GO:0050849)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|post-embryonic development (GO:0009791)|regulation of insulin secretion (GO:0050796)|release of sequestered calcium ion into cytosol (GO:0051209)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|voluntary musculoskeletal movement (GO:0050882)	calcineurin complex (GO:0005955)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear inner membrane (GO:0005637)|nucleolus (GO:0005730)|platelet dense granule membrane (GO:0031088)|platelet dense tubular network (GO:0031094)|platelet dense tubular network membrane (GO:0031095)|postsynaptic density (GO:0014069)|sarcoplasmic reticulum (GO:0016529)	calcium channel inhibitor activity (GO:0019855)|calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|intracellular ligand-gated calcium channel activity (GO:0005218)|phosphatidylinositol binding (GO:0035091)			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)	Caffeine(DB00201)	GGTGTGCCCGCAACATGTCTT	0.582																																																	0													113.0	112.0	112.0					3																	4836777		2058	4208	6266	SO:0001819	synonymous_variant	3708			D26070	CCDS46740.1, CCDS46740.2, CCDS54550.1, CCDS54551.1	3p26.1	2014-06-12	2011-04-28			ENSG00000150995		"""Ion channels / Inositol triphosphate receptors"""	6180	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 94"""	147265	"""spinocerebellar ataxia 15"", ""spinocerebellar ataxia 16"", ""spinocerebellar ataxia 29"""	SCA15, SCA16, SCA29		7945203, 7500840, 17590087, 17932120, 22986007	Standard	NM_001099952		Approved	Insp3r1, IP3R1, ACV, PPP1R94	uc003bqc.3	Q14643		ENST00000443694.2:c.6792C>T	3.37:g.4836777C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EPX7|E9PDE9|Q14660|Q99897	Silent	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,smart_MIR_motif,prints_InsP3_rcpt-bd,pfscan_MIR_motif	p.R2264	ENST00000443694.2	37	c.6792	CCDS54551.1	3																																																																																			ITPR1	-	NULL		0.582	ITPR1-004	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	ITPR1	HGNC	protein_coding	OTTHUMT00000337982.3	C	NM_002222		4836777	+1	no_errors	ENST00000302640	ensembl	human	known	70_37	silent	SNP	0.958	T
ITPR2	3709	genome.wustl.edu	37	12	26752981	26752981	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:26752981C>T	ENST00000381340.3	-	29	4156	c.3740G>A	c.(3739-3741)cGa>cAa	p.R1247Q		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1247					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	TGGATTTCCTCGACAGAAATT	0.318																																																	0													107.0	102.0	103.0					12																	26752981		1838	4072	5910	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3740G>A	12.37:g.26752981C>T	ENSP00000370744:p.Arg1247Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.R1247Q	ENST00000381340.3	37	c.3740	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	C	10.30	1.311883	0.23821	.	.	ENSG00000123104	ENST00000381340	T	0.65178	-0.14	4.24	3.26	0.37387	Intracellular calcium-release channel (1);	0.260564	0.38217	N	0.001766	T	0.47525	0.1450	L	0.32530	0.975	0.58432	D	0.999991	P	0.44429	0.835	B	0.39771	0.309	T	0.40869	-0.9540	10	0.16420	T	0.52	.	13.5397	0.61666	0.0:0.732:0.268:0.0	.	1247	Q14571	ITPR2_HUMAN	Q	1247	ENSP00000370744:R1247Q	ENSP00000370744:R1247Q	R	-	2	0	ITPR2	26644248	0.371000	0.25056	0.985000	0.45067	0.995000	0.86356	1.683000	0.37638	2.365000	0.80145	0.650000	0.86243	CGA	ITPR2	-	pfam_Ca-rel_channel,superfamily_ARM-type_fold		0.318	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	C	NM_002223		26752981	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	0.791	T
ITSN1	6453	genome.wustl.edu	37	21	35154300	35154300	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:35154300G>C	ENST00000381318.3	+	16	1975	c.1687G>C	c.(1687-1689)Gat>Cat	p.D563H	ITSN1_ENST00000399355.2_Missense_Mutation_p.D563H|ITSN1_ENST00000381285.4_Missense_Mutation_p.D563H|ITSN1_ENST00000437442.2_Missense_Mutation_p.D563H|ITSN1_ENST00000399367.3_Missense_Mutation_p.D563H|ITSN1_ENST00000399326.3_Missense_Mutation_p.D563H|ITSN1_ENST00000379960.5_Missense_Mutation_p.D563H|ITSN1_ENST00000399338.4_Missense_Mutation_p.D563H|ITSN1_ENST00000381291.4_Missense_Mutation_p.D563H|ITSN1_ENST00000399352.1_Missense_Mutation_p.D563H|ITSN1_ENST00000399353.1_Missense_Mutation_p.D526H|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.D563H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	563	KLERQ.				apoptotic signaling pathway (GO:0097190)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase B signaling (GO:0051897)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle endocytosis (GO:0048488)	cell junction (GO:0030054)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|lamellipodium (GO:0030027)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|guanyl-nucleotide exchange factor activity (GO:0005085)|kinase activator activity (GO:0019209)|proline-rich region binding (GO:0070064)|protein complex scaffold (GO:0032947)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TAAAATAGGAGATTCACTTGT	0.353																																																	0													57.0	59.0	58.0					21																	35154300		2203	4300	6503	SO:0001583	missense	6453			AF064244	CCDS33545.1, CCDS33546.1	21q22.1-q22.2	2013-01-10			ENSG00000205726	ENSG00000205726		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"""	6183	protein-coding gene	gene with protein product	"""SH3 domain protein-1A"", ""human intersectin-SH3 domain-containing protein SH3P17"", ""Src homology 3 domain-containing protein"", ""intersectin 1 short form variant, 11"", ""intersectin 1 short form variant 3"", ""intersectin short variant 12"""	602442		SH3D1A, ITSN		9799604, 9813051	Standard	NM_003024		Approved	SH3P17, MGC134948, MGC134949	uc002yta.1	Q15811	OTTHUMG00000065284	ENST00000381318.3:c.1687G>C	21.37:g.35154300G>C	ENSP00000370719:p.Asp563His	Somatic		WXS	Illumina HiSeq	Phase_IV	A7Y322|A8CTX8|A8CTY3|A8CTY7|A8D7D0|A8DCP3|B4DTM2|E7ERJ1|E9PE44|E9PG01|E9PHV2|O95216|Q0PW94|Q0PW95|Q0PW97|Q14BD3|Q1ED40|Q20BK3|Q9UET5|Q9UK60|Q9UNK1|Q9UNK2|Q9UQ92	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.D563H	ENST00000381318.3	37	c.1687	CCDS33545.1	21	.	.	.	.	.	.	.	.	.	.	G	26.3	4.724252	0.89298	.	.	ENSG00000205726	ENST00000399353;ENST00000381318;ENST00000381291;ENST00000381285;ENST00000381288;ENST00000381289;ENST00000399367;ENST00000399352;ENST00000399355;ENST00000399349;ENST00000399338;ENST00000437442;ENST00000399326;ENST00000379960	T;T;T;T;T;T;T;T;T;T;T;T	0.31510	1.49;2.56;2.56;2.56;1.49;1.49;2.56;1.49;1.49;1.49;1.49;1.49	5.83	5.83	0.93111	.	0.048734	0.85682	D	0.000000	T	0.47116	0.1428	L	0.29908	0.895	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.991;1.0;1.0;0.998;1.0;1.0;0.993;1.0	D;D;P;D;D;P;D;D;D;D	0.91635	0.999;0.999;0.769;0.999;0.999;0.879;0.999;0.999;0.987;0.999	T	0.31943	-0.9925	10	0.46703	T	0.11	.	20.1195	0.97955	0.0:0.0:1.0:0.0	.	526;526;526;563;563;563;563;563;563;526	A8D7D0;A7XZY7;A8CTY7;A8CTY3;F8W7U0;E7ERJ1;A8CTX8;Q15811;Q15811-3;E7ERJ0	.;.;.;.;.;.;.;ITSN1_HUMAN;.;.	H	526;563;563;563;563;563;563;563;563;563;563;563;563;563	ENSP00000382290:D526H;ENSP00000370719:D563H;ENSP00000370691:D563H;ENSP00000370685:D563H;ENSP00000382301:D563H;ENSP00000382289:D563H;ENSP00000382292:D563H;ENSP00000382286:D563H;ENSP00000382275:D563H;ENSP00000387377:D563H;ENSP00000382265:D563H;ENSP00000369294:D563H	ENSP00000369294:D563H	D	+	1	0	ITSN1	34076170	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.864000	0.92294	2.759000	0.94783	0.650000	0.86243	GAT	ITSN1	-	NULL		0.353	ITSN1-001	KNOWN	basic|CCDS	protein_coding	ITSN1	HGNC	protein_coding	OTTHUMT00000140070.4	G	NM_003024		35154300	+1	no_errors	ENST00000381285	ensembl	human	known	70_37	missense	SNP	1.000	C
ITSN2	50618	genome.wustl.edu	37	2	24469689	24469689	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:24469689C>G	ENST00000355123.4	-	28	3805	c.3362G>C	c.(3361-3363)aGa>aCa	p.R1121T	ITSN2_ENST00000361999.3_Missense_Mutation_p.R1094T|ITSN2_ENST00000406921.3_Missense_Mutation_p.R1121T	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	1121					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGTGTGGCTCTTTCACTACT	0.378																																																	0													104.0	104.0	104.0					2																	24469689		2203	4300	6503	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.3362G>C	2.37:g.24469689C>G	ENSP00000347244:p.Arg1121Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.R1121T	ENST00000355123.4	37	c.3362	CCDS1710.2	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.77|14.77	2.635580|2.635580	0.47049|0.47049	.|.	.|.	ENSG00000198399|ENSG00000198399	ENST00000416160|ENST00000361999;ENST00000355123;ENST00000380868;ENST00000406921	.|T;T;T;T	.|0.16743	.|2.32;2.32;2.32;2.32	5.59|5.59	5.59|5.59	0.84812|0.84812	.|Src homology-3 domain (2);	.|0.000000	.|0.35739	.|U	.|0.003009	T|T	0.13927|0.13927	0.0337|0.0337	N|N	0.21324|0.21324	0.655|0.655	0.50467|0.50467	D|D	0.999878|0.999878	.|P;P;P	.|0.41848	.|0.763;0.763;0.651	.|B;B;B	.|0.42282	.|0.382;0.116;0.054	T|T	0.01081|0.01081	-1.1458|-1.1458	5|10	.|0.72032	.|D	.|0.01	.|.	10.4267|10.4267	0.44383|0.44383	0.0:0.8551:0.0:0.1449|0.0:0.8551:0.0:0.1449	.|.	.|1121;1094;1121	.|Q9NZM3-3;Q9NZM3-2;Q9NZM3	.|.;.;ITSN2_HUMAN	Q|T	49|1094;1121;1094;1121	.|ENSP00000354561:R1094T;ENSP00000347244:R1121T;ENSP00000370250:R1094T;ENSP00000384499:R1121T	.|ENSP00000347244:R1121T	E|R	-|-	1|2	0|0	ITSN2|ITSN2	24323193|24323193	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	2.280000|2.280000	0.43443|0.43443	2.809000|2.809000	0.96659|0.96659	0.467000|0.467000	0.42956|0.42956	GAG|AGA	ITSN2	-	superfamily_SH3_domain		0.378	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	C	NM_006277		24469689	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	1.000	G
JAK1	3716	genome.wustl.edu	37	1	65312460	65312460	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:65312460C>G	ENST00000342505.4	-	14	2148				JAK1_ENST00000465376.1_Intron	NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1						cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-2-mediated signaling pathway (GO:0038110)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to antibiotic (GO:0046677)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AGGCCAGCCTCCAGGGGGCTG	0.607			Mis		ALL																																			Dom	yes		1	1p32.3-p31.3	3716	Janus kinase 1		L	0													38.0	40.0	39.0					1																	65312460		2034	4202	6236	SO:0001627	intron_variant	3716			M64174	CCDS41346.1	1p32.3-p31.3	2009-07-10	2009-04-23		ENSG00000162434	ENSG00000162434	2.7.10.1		6190	protein-coding gene	gene with protein product		147795		JAK1B		1848670, 7698020	Standard	NM_002227		Approved	JAK1A, JTK3	uc001dbu.1	P23458	OTTHUMG00000009310	ENST00000342505.4:c.1900-41G>C	1.37:g.65312460C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GQ2|Q9UD26	RNA	SNP	-	NULL	ENST00000342505.4	37	NULL	CCDS41346.1	1																																																																																			JAK1	-	-		0.607	JAK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JAK1	HGNC	protein_coding	OTTHUMT00000025791.1	C	NM_002227		65312460	-1	no_errors	ENST00000471473	ensembl	human	known	70_37	rna	SNP	0.000	G
JAKMIP3	282973	genome.wustl.edu	37	10	133955450	133955450	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:133955450G>C	ENST00000298622.4	+	10	1638	c.1500G>C	c.(1498-1500)ctG>ctC	p.L500L		NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	500						Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		AGACGGAGCTGAGGTTCCGGC	0.627																																																	0													94.0	64.0	74.0					10																	133955450		2198	4293	6491	SO:0001819	synonymous_variant	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1500G>C	10.37:g.133955450G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PW00|Q69YM6|Q6ZT29	Silent	SNP	NULL	p.L500	ENST00000298622.4	37	c.1500	CCDS44494.1	10																																																																																			JAKMIP3	-	NULL		0.627	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133955450	+1	no_errors	ENST00000298622	ensembl	human	known	70_37	silent	SNP	1.000	C
JDP2	122953	genome.wustl.edu	37	14	75935999	75935999	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:75935999G>A	ENST00000435893.2	+	4	586	c.313G>A	c.(313-315)Gag>Aag	p.E105K	JDP2_ENST00000437176.1_Missense_Mutation_p.E105K|JDP2_ENST00000419727.2_Missense_Mutation_p.E105K|JDP2_ENST00000267569.5_Missense_Mutation_p.E116K	NM_001135047.1|NM_130469.3	NP_001128519.1|NP_569736.1	Q8WYK2	JDP2_HUMAN	Jun dimerization protein 2	105	Leucine-zipper. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone deacetylation (GO:0031065)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.0296)	Pseudoephedrine(DB00852)	ACAGGAATCCGAGCGGCTGGA	0.602																																																	0													60.0	52.0	55.0					14																	75935999		2203	4300	6503	SO:0001583	missense	122953			AF111167	CCDS9842.1, CCDS45139.1	14q24.2	2013-01-10		2008-04-10				"""basic leucine zipper proteins"""	17546	protein-coding gene	gene with protein product	"""progesterone receptor co-activator"""	608657				12052888, 9154808, 17545590	Standard	NM_130469		Approved	JUNDM2	uc001xrq.3	Q8WYK2		ENST00000435893.2:c.313G>A	14.37:g.75935999G>A	ENSP00000399587:p.Glu105Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KN58|O95430|Q9UIE4	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos	p.E116K	ENST00000435893.2	37	c.346	CCDS9842.1	14	.	.	.	.	.	.	.	.	.	.	G	27.8	4.862320	0.91511	.	.	ENSG00000140044	ENST00000419727;ENST00000437176;ENST00000435893;ENST00000267569	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	4.71	4.71	0.59529	Basic-leucine zipper (bZIP) transcription factor (2);bZIP transcription factor, bZIP-1 (1);	0.000000	0.85682	D	0.000000	D	0.87577	0.6212	L	0.55990	1.75	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.88804	0.3287	10	0.72032	D	0.01	-5.0828	17.8398	0.88712	0.0:0.0:1.0:0.0	.	105	Q8WYK2	JDP2_HUMAN	K	105;105;105;116	ENSP00000415558:E105K;ENSP00000409787:E105K;ENSP00000399587:E105K;ENSP00000267569:E116K	ENSP00000267569:E116K	E	+	1	0	JDP2	75005752	1.000000	0.71417	0.952000	0.39060	0.580000	0.36256	9.526000	0.98042	2.445000	0.82738	0.563000	0.77884	GAG	JDP2	-	pfam_bZIP,smart_bZIP,pfscan_bZIP,prints_Leuzip_Fos		0.602	JDP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	JDP2	HGNC	protein_coding	OTTHUMT00000415505.1	G	NM_130469		75935999	+1	no_errors	ENST00000267569	ensembl	human	known	70_37	missense	SNP	1.000	A
KANK2	25959	genome.wustl.edu	37	19	11303634	11303634	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:11303634C>G	ENST00000586659.1	-	4	1436	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	KANK2_ENST00000355150.5_Missense_Mutation_p.E374D|KANK2_ENST00000589894.1_Missense_Mutation_p.E374D|KANK2_ENST00000432929.2_Missense_Mutation_p.E374D|KANK2_ENST00000589359.1_Missense_Mutation_p.E374D			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	374					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CAGGTGGGCTCTCAGGCCTAC	0.647																																																	0													63.0	67.0	65.0					19																	11303634		2203	4300	6503	SO:0001583	missense	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.1122G>C	19.37:g.11303634C>G	ENSP00000465650:p.Glu374Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E374D	ENST00000586659.1	37	c.1122	CCDS12255.1	19	.	.	.	.	.	.	.	.	.	.	C	14.31	2.495921	0.44352	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.37058	1.22;1.22	4.11	4.11	0.48088	.	0.397901	0.20818	N	0.085116	T	0.35885	0.0947	L	0.56769	1.78	0.30026	N	0.813925	B;B;B	0.12013	0.001;0.001;0.005	B;B;B	0.13407	0.003;0.002;0.009	T	0.28490	-1.0042	10	0.30078	T	0.28	-29.9165	15.1136	0.72380	0.0:1.0:0.0:0.0	.	374;374;374	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	D	374	ENSP00000395650:E374D;ENSP00000347276:E374D	ENSP00000347276:E374D	E	-	3	2	KANK2	11164634	0.744000	0.28250	0.704000	0.30370	0.062000	0.15995	1.510000	0.35790	1.834000	0.53371	0.462000	0.41574	GAG	KANK2	-	NULL		0.647	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	C	NM_015493		11303634	-1	no_errors	ENST00000432929	ensembl	human	known	70_37	missense	SNP	0.837	G
KANK2	25959	genome.wustl.edu	37	19	11303837	11303838	+	Nonsense_Mutation	DNP	GA	GA	AG			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G|A	G|A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:11303837_11303838GA>AG	ENST00000586659.1	-	4	1232_1233	c.918_919TC>CT	c.(916-921)gcTCag>gcCTag	p.Q307*	KANK2_ENST00000355150.5_Nonsense_Mutation_p.Q307*|KANK2_ENST00000589894.1_Nonsense_Mutation_p.Q307*|KANK2_ENST00000432929.2_Nonsense_Mutation_p.Q307*|KANK2_ENST00000589359.1_Nonsense_Mutation_p.Q307*			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	307					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGCCGGGCCTGAGCTGCCTGCA	0.703																																																	0																																										SO:0001587	stop_gained	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.918_919delinsAG	19.37:g.11303837_11303838delinsAG	ENSP00000465650:p.Gln307*	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Nonsense_Mutation|Silent	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.Q307*|p.A306	ENST00000586659.1	37	c.919|c.918	CCDS12255.1	19																																																																																			KANK2	-	NULL		0.703	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	G|A	NM_015493		11303837|11303838	-1	no_errors	ENST00000432929	ensembl	human	known	70_37	nonsense|silent	SNP	0.996|0.976	A|G
KANK4	163782	genome.wustl.edu	37	1	62739081	62739081	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:62739081C>T	ENST00000371153.4	-	3	2073	c.1695G>A	c.(1693-1695)aaG>aaA	p.K565K	KANK4_ENST00000371150.1_5'Flank|KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	565						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CCTGGATCTTCTTCACATACT	0.617																																																	0													56.0	52.0	54.0					1																	62739081		2203	4300	6503	SO:0001819	synonymous_variant	163782			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.1695G>A	1.37:g.62739081C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.K565	ENST00000371153.4	37	c.1695	CCDS620.1	1																																																																																			KANK4	-	NULL		0.617	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1	C	NM_181712		62739081	-1	no_errors	ENST00000371153	ensembl	human	known	70_37	silent	SNP	0.991	T
KLHL41	10324	genome.wustl.edu	37	2	170371123	170371123	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:170371123C>T	ENST00000284669.1	+	2	1227	c.1150C>T	c.(1150-1152)Ctg>Ttg	p.L384L	RP11-724O16.1_ENST00000513963.1_Silent_p.L322L|KLHL41_ENST00000463400.1_3'UTR|BBS5_ENST00000554017.1_Silent_p.L322L	NM_006063.2	NP_006054.2	O60662	KLH41_HUMAN	kelch-like family member 41	384					myofibril assembly (GO:0030239)|protein ubiquitination (GO:0016567)|regulation of lateral pseudopodium assembly (GO:0031275)|regulation of myoblast differentiation (GO:0045661)|regulation of myoblast proliferation (GO:2000291)|regulation of skeletal muscle cell differentiation (GO:2001014)|skeletal muscle cell differentiation (GO:0035914)|striated muscle contraction (GO:0006941)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|M band (GO:0031430)|pseudopodium (GO:0031143)											ACTTCCACCTCTGCCTTCAGC	0.438																																																	0													99.0	97.0	97.0					2																	170371123		2203	4300	6503	SO:0001819	synonymous_variant	10324			AF056929	CCDS2234.1	2q31.1	2013-02-22	2013-02-22	2013-01-08	ENSG00000239474	ENSG00000239474		"""Kelch-like"", ""BTB/POZ domain containing"""	16905	protein-coding gene	gene with protein product	"""sarcomeric muscle protein"""	607701	"""kelch repeat and BTB (POZ) domain containing 10"", ""kelch-like 41 (Drosophila)"""	KBTBD10		9655184	Standard	NM_006063		Approved	SARCOSIN, Krp1	uc002ueu.1	O60662	OTTHUMG00000132205	ENST00000284669.1:c.1150C>T	2.37:g.170371123C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53R42	Silent	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L384	ENST00000284669.1	37	c.1150	CCDS2234.1	2																																																																																			KBTBD10	-	smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.438	KLHL41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD10	HGNC	protein_coding	OTTHUMT00000255263.1	C	NM_006063		170371123	+1	no_errors	ENST00000284669	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNC4	3749	genome.wustl.edu	37	1	110774856	110774856	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:110774856C>T	ENST00000369787.3	+	4	1860	c.1833C>T	c.(1831-1833)ctC>ctT	p.L611L	KCNC4_ENST00000438661.2_Intron|KCNC4_ENST00000412512.2_Intron|KCNC4_ENST00000413138.3_Intron	NM_004978.4	NP_004969.2	Q03721	KCNC4_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 4	611					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axon terminus (GO:0043679)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(2)	32		all_cancers(81;9.88e-06)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0238)|all cancers(265;0.0693)|Epithelial(280;0.0748)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.135)		CATTCGTCCTCCGTGACCTTC	0.567																																																	0													98.0	74.0	82.0					1																	110774856		2203	4300	6503	SO:0001819	synonymous_variant	3749			BC101769	CCDS821.1, CCDS44193.1	1p21	2012-07-05			ENSG00000116396	ENSG00000116396		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6236	protein-coding gene	gene with protein product		176265	"""chromosome 1 open reading frame 30"""	C1orf30		1920536, 1740329, 16382104	Standard	NM_004978		Approved	Kv3.4, HKSHIIIC	uc001dzh.3	Q03721	OTTHUMG00000011037	ENST00000369787.3:c.1833C>T	1.37:g.110774856C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIM4|Q5TBI6	Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_K_chnl_volt-dep_Kv3_ID,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv3.4,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9	p.L611	ENST00000369787.3	37	c.1833	CCDS821.1	1																																																																																			KCNC4	-	NULL		0.567	KCNC4-004	KNOWN	basic|CCDS	protein_coding	KCNC4	HGNC	protein_coding	OTTHUMT00000052146.2	C	NM_001039574		110774856	+1	no_errors	ENST00000369787	ensembl	human	known	70_37	silent	SNP	0.001	T
KCND1	3750	genome.wustl.edu	37	X	48826642	48826642	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:48826642G>A	ENST00000218176.3	-	1	1334	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	13	Interaction with KCNIP2. {ECO:0000250}.				protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GCTGCTGCCCGAGCAAAAGGC	0.657																																																	0													11.0	10.0	10.0					X																	48826642		2176	4247	6423	SO:0001583	missense	3750			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.37C>T	X.37:g.48826642G>A	ENSP00000218176:p.Arg13Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.R13W	ENST00000218176.3	37	c.37	CCDS14314.1	X	.	.	.	.	.	.	.	.	.	.	G	13.94	2.387860	0.42308	.	.	ENSG00000102057	ENST00000218176	D	0.97404	-4.37	4.79	0.329	0.15924	Shal-type voltage-gated potassium channels (1);	0.000000	0.64402	D	0.000002	D	0.97626	0.9222	M	0.77486	2.375	0.48762	D	0.999705	D	0.89917	1.0	D	0.97110	1.0	D	0.96197	0.9142	10	0.87932	D	0	.	8.0905	0.30797	0.0863:0.0:0.4921:0.4215	.	13	Q9NSA2	KCND1_HUMAN	W	13	ENSP00000218176:R13W	ENSP00000218176:R13W	R	-	1	2	KCND1	48711586	0.780000	0.28664	0.007000	0.13788	0.853000	0.48598	0.992000	0.29667	0.071000	0.16664	0.422000	0.28245	CGG	KCND1	-	pfam_Shal-type		0.657	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1	G	NM_004979		48826642	-1	no_errors	ENST00000218176	ensembl	human	known	70_37	missense	SNP	0.072	A
KCNG3	170850	genome.wustl.edu	37	2	42720542	42720542	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:42720542G>A	ENST00000306078.1	-	1	695	c.100C>T	c.(100-102)Cgc>Tgc	p.R34C	KCNG3_ENST00000394973.4_Missense_Mutation_p.R34C|MTA3_ENST00000405592.1_5'Flank	NM_133329.5|NM_172344.2	NP_579875.1|NP_758847.1	Q8TAE7	KCNG3_HUMAN	potassium voltage-gated channel, subfamily G, member 3	34					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)			central_nervous_system(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	6						CGGCTCACGCGGCGCAGCGGG	0.706																																																	0													13.0	12.0	12.0					2																	42720542		2144	4211	6355	SO:0001583	missense	170850			AB070604	CCDS1809.1, CCDS42674.1	2p21	2011-07-05			ENSG00000171126	ENSG00000171126		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18306	protein-coding gene	gene with protein product		606767				11852086, 16382104	Standard	NM_133329		Approved	Kv6.3	uc002rsn.3	Q8TAE7	OTTHUMG00000128604	ENST00000306078.1:c.100C>T	2.37:g.42720542G>A	ENSP00000304127:p.Arg34Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SC1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.R34C	ENST00000306078.1	37	c.100	CCDS1809.1	2	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733200	0.69189	.	.	ENSG00000171126	ENST00000306078;ENST00000394973	T;T	0.48201	0.82;0.82	3.31	3.31	0.37934	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.139825	0.44097	D	0.000496	T	0.70833	0.3269	M	0.90595	3.13	0.54753	D	0.999983	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.76291	-0.3013	10	0.87932	D	0	.	10.2455	0.43339	0.0:0.0:0.8019:0.1981	.	34;34	Q8TAE7;Q8TAE7-2	KCNG3_HUMAN;.	C	34	ENSP00000304127:R34C;ENSP00000378424:R34C	ENSP00000304127:R34C	R	-	1	0	KCNG3	42574046	0.969000	0.33509	0.996000	0.52242	0.997000	0.91878	1.126000	0.31344	1.666000	0.50821	0.462000	0.41574	CGC	KCNG3	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl_volt-dep_Kv9		0.706	KCNG3-001	KNOWN	basic|CCDS	protein_coding	KCNG3	HGNC	protein_coding	OTTHUMT00000250464.2	G	NM_172344		42720542	-1	no_errors	ENST00000306078	ensembl	human	known	70_37	missense	SNP	0.999	A
KCNJ12	3768	genome.wustl.edu	37	17	21318909	21318909	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:21318909C>G	ENST00000583088.1	+	3	1150	c.255C>G	c.(253-255)ctC>ctG	p.L85L	KCNJ12_ENST00000331718.5_Silent_p.L85L	NM_021012.4	NP_066292.2	Q14500	KCJ12_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 12	85					muscle contraction (GO:0006936)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of heart contraction (GO:0008016)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|intrinsic component of membrane (GO:0031224)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)	Dofetilide(DB00204)|Yohimbine(DB01392)	ACATGCTGCTCATCTTCTCGC	0.602										Prostate(3;0.18)																																							0													192.0	118.0	143.0					17																	21318909		2203	4300	6503	SO:0001819	synonymous_variant	3768			L36069	CCDS11219.1	17p11.1	2011-07-05	2004-01-13		ENSG00000184185	ENSG00000184185		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6258	protein-coding gene	gene with protein product		602323	"""potassium inwardly-rectifying channel, subfamily J, inhibitor 1"""	KCNJN1		7859381, 12417321, 16382105	Standard	NM_021012		Approved	Kir2.2, Kir2.2v, IRK2, hIRK1	uc021tss.1	Q14500	OTTHUMG00000132039	ENST00000583088.1:c.255C>G	17.37:g.21318909C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O43401|Q15756|Q8NG63	Silent	SNP	pfam_K_chnl_inward-rec_Kir,pfam_K_chnl_inward-rec_Kir_N,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir2.2	p.L85	ENST00000583088.1	37	c.255	CCDS11219.1	17																																																																																			KCNJ12	-	pfam_K_chnl_inward-rec_Kir,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.602	KCNJ12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ12	HGNC	protein_coding	OTTHUMT00000255060.2	C	NM_021012		21318909	+1	no_errors	ENST00000331718	ensembl	human	known	70_37	silent	SNP	1.000	G
KDM2A	22992	genome.wustl.edu	37	11	67022514	67022514	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:67022514G>A	ENST00000529006.2	+	21	3923	c.3477G>A	c.(3475-3477)caG>caA	p.Q1159Q	KDM2A_ENST00000308783.5_Silent_p.Q617Q|KDM2A_ENST00000530342.1_Silent_p.Q720Q|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	1159					histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGCTGATACAGAAGATCAGCT	0.547																																																	0													39.0	40.0	40.0					11																	67022514		2049	4210	6259	SO:0001819	synonymous_variant	22992			BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.3477G>A	11.37:g.67022514G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	pfam_Znf_CXXC,pfam_F-box_dom_cyclin-like,pfam_JmjC_dom,superfamily_Znf_FYVE_PHD,smart_JmjC_dom,smart_Znf_PHD,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.Q1159	ENST00000529006.2	37	c.3477	CCDS44657.1	11																																																																																			KDM2A	-	NULL		0.547	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM2A	HGNC	protein_coding	OTTHUMT00000393140.2	G	NM_012308		67022514	+1	no_errors	ENST00000529006	ensembl	human	known	70_37	silent	SNP	1.000	A
KDM4B	23030	genome.wustl.edu	37	19	5134045	5134045	+	Missense_Mutation	SNP	C	C	G	rs373764792		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:5134045C>G	ENST00000159111.4	+	14	2276	c.2058C>G	c.(2056-2058)atC>atG	p.I686M	KDM4B_ENST00000536461.1_Missense_Mutation_p.I720M	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	686					chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACTGCGCCATCTGCACGCTCT	0.697																																																	0													68.0	79.0	76.0					19																	5134045		2203	4299	6502	SO:0001583	missense	23030			AB020683	CCDS12138.1	19p13.3	2013-01-23	2009-04-06	2009-04-06		ENSG00000127663		"""Chromatin-modifying enzymes / K-demethylases"", ""Tudor domain containing"""	29136	protein-coding gene	gene with protein product	"""tudor domain containing 14B"""	609765	"""jumonji domain containing 2B"""	JMJD2B		10048485, 15138608	Standard	NM_015015		Approved	KIAA0876, TDRD14B	uc002mbq.4	O94953		ENST00000159111.4:c.2058C>G	19.37:g.5134045C>G	ENSP00000159111:p.Ile686Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGN8|D6W631|O75274|Q6P3R5|Q9P1V1|Q9UF40	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TF_JmjN,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_JmjC_dom,smart_Znf_PHD,smart_Tudor,pfscan_TF_JmjN,pfscan_JmjC_dom	p.I686M	ENST00000159111.4	37	c.2058	CCDS12138.1	19	.	.	.	.	.	.	.	.	.	.	C	12.35	1.910688	0.33721	.	.	ENSG00000127663	ENST00000159111;ENST00000536461	T;T	0.57595	0.39;0.39	3.98	2.9	0.33743	.	0.556571	0.19045	N	0.124195	T	0.58308	0.2113	M	0.67397	2.05	0.35040	D	0.759688	P;P	0.46395	0.739;0.877	P;B	0.48400	0.576;0.293	T	0.71517	-0.4569	10	0.87932	D	0	-24.8367	12.3269	0.55015	0.0:0.6725:0.3275:0.0	.	720;686	F5GX28;O94953	.;KDM4B_HUMAN	M	686;720	ENSP00000159111:I686M;ENSP00000440495:I720M	ENSP00000159111:I686M	I	+	3	3	KDM4B	5085045	1.000000	0.71417	0.998000	0.56505	0.604000	0.37047	2.394000	0.44450	0.747000	0.32809	0.561000	0.74099	ATC	KDM4B	-	NULL		0.697	KDM4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM4B	HGNC	protein_coding	OTTHUMT00000450558.1	C	NM_015015		5134045	+1	no_errors	ENST00000159111	ensembl	human	known	70_37	missense	SNP	1.000	G
KDM6A	7403	genome.wustl.edu	37	X	44928921	44928921	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44928921C>A	ENST00000377967.4	+	17	2062	c.2021C>A	c.(2020-2022)tCt>tAt	p.S674Y	KDM6A_ENST00000543216.1_Missense_Mutation_p.S595Y|KDM6A_ENST00000536777.1_Missense_Mutation_p.S629Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.S681Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	674	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCAGCTGGCTCTGGTATTCAG	0.542			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											62.0	50.0	54.0					X																	44928921		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2021C>A	X.37:g.44928921C>A	ENSP00000367203:p.Ser674Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S681Y	ENST00000377967.4	37	c.2042	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808344	0.70797	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	5.08	5.08	0.68730	.	0.148232	0.64402	D	0.000015	T	0.42426	0.1202	N	0.08118	0	0.46185	D	0.998912	B;P;P;P;B;P	0.40875	0.145;0.731;0.659;0.716;0.412;0.716	B;B;P;P;B;P	0.49192	0.085;0.241;0.5;0.498;0.188;0.602	T	0.54510	-0.8283	10	0.87932	D	0	-0.2919	17.9308	0.88996	0.0:1.0:0.0:0.0	.	313;681;629;726;640;674	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	Y	371;674;629;681;595	ENSP00000367203:S674Y;ENSP00000437405:S629Y;ENSP00000372355:S681Y;ENSP00000443078:S595Y	ENSP00000334340:S371Y	S	+	2	0	KDM6A	44813865	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.574000	0.46016	2.255000	0.74692	0.600000	0.82982	TCT	KDM6A	-	NULL		0.542	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44928921	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	A
KDM6A	7403	genome.wustl.edu	37	X	44928929	44928929	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44928929C>T	ENST00000377967.4	+	17	2070	c.2029C>T	c.(2029-2031)Cag>Tag	p.Q677*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.Q598*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.Q632*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.Q684*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	677	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.Q677*(1)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CTCTGGTATTCAGAATCAGAA	0.537			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	7	Whole gene deletion(6)|Substitution - Nonsense(1)	oesophagus(2)|breast(2)|pancreas(2)|lung(1)											66.0	53.0	57.0					X																	44928929		2203	4300	6503	SO:0001587	stop_gained	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2029C>T	X.37:g.44928929C>T	ENSP00000367203:p.Gln677*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q684*	ENST00000377967.4	37	c.2050	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.707603|5.707603	0.96821|0.96821	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	.|.	.|.	.|.	5.08|5.08	4.2|4.2	0.49525|0.49525	.|.	0.288263|.	0.39615|.	N|.	0.001308|.	.|T	.|0.64527	.|0.2606	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.70400	.|-0.4882	.|3	0.16896|.	T|.	0.51|.	-0.6906|-0.6906	14.2065|14.2065	0.65737|0.65737	0.1506:0.8494:0.0:0.0|0.1506:0.8494:0.0:0.0	.|.	.|.	.|.	.|.	X|L	374;677;632;684;598|274;319	.|.	ENSP00000334340:Q374X|.	Q|S	+|+	1|2	0|0	KDM6A|KDM6A	44813873|44813873	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	7.175000|7.175000	0.77632|0.77632	1.006000|1.006000	0.39211|0.39211	0.600000|0.600000	0.82982|0.82982	CAG|TCA	KDM6A	-	NULL		0.537	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44928929	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KDM6A	7403	genome.wustl.edu	37	X	44929242	44929242	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929242C>A	ENST00000377967.4	+	17	2383	c.2342C>A	c.(2341-2343)tCt>tAt	p.S781Y	KDM6A_ENST00000543216.1_Missense_Mutation_p.S702Y|KDM6A_ENST00000536777.1_Missense_Mutation_p.S736Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.S788Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	781	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTCAGCTCTCTGCCTTGTTG	0.443			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											152.0	110.0	124.0					X																	44929242		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2342C>A	X.37:g.44929242C>A	ENSP00000367203:p.Ser781Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S788Y	ENST00000377967.4	37	c.2363	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491876	0.64074	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	D;D;D;D	0.87491	-2.26;-2.26;-2.26;-2.26	5.08	5.08	0.68730	.	0.000000	0.85682	D	0.000000	D	0.93294	0.7863	M	0.73598	2.24	0.80722	D	1	D;D;D;D;D;D	0.89917	0.995;0.998;1.0;1.0;0.996;1.0	D;D;D;D;D;D	0.91635	0.979;0.992;0.999;0.998;0.982;0.998	D	0.94144	0.7399	10	0.87932	D	0	-7.4302	17.9308	0.88996	0.0:1.0:0.0:0.0	.	420;788;736;833;747;781	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	Y	478;781;736;788;702	ENSP00000367203:S781Y;ENSP00000437405:S736Y;ENSP00000372355:S788Y;ENSP00000443078:S702Y	ENSP00000334340:S478Y	S	+	2	0	KDM6A	44814186	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.400000	0.79949	2.255000	0.74692	0.600000	0.82982	TCT	KDM6A	-	NULL		0.443	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929242	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	A
KDM6A	7403	genome.wustl.edu	37	X	44929322	44929322	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929322C>T	ENST00000377967.4	+	17	2463	c.2422C>T	c.(2422-2424)Cat>Tat	p.H808Y	KDM6A_ENST00000543216.1_Missense_Mutation_p.H729Y|KDM6A_ENST00000536777.1_Missense_Mutation_p.H763Y|KDM6A_ENST00000382899.4_Missense_Mutation_p.H815Y	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	808	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCCAGCTGTTCATACAAAGAC	0.443			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											184.0	130.0	148.0					X																	44929322		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2422C>T	X.37:g.44929322C>T	ENSP00000367203:p.His808Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H815Y	ENST00000377967.4	37	c.2443	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.21|17.21	3.331660|3.331660	0.60853|0.60853	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216|ENST00000414389;ENST00000433797	T;T;T;T|.	0.80480|.	-1.38;-1.38;-1.38;-1.38|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	0.090702|.	0.85682|.	D|.	0.000000|.	T|T	0.72985|0.72985	0.3529|0.3529	M|M	0.64997|0.64997	1.995|1.995	0.58432|0.58432	D|D	0.999999|0.999999	P;D;P;P;P;P|.	0.53745|.	0.818;0.962;0.81;0.712;0.936;0.712|.	B;D;P;B;P;B|.	0.66716|.	0.255;0.946;0.514;0.315;0.885;0.315|.	T|T	0.72424|0.72424	-0.4298|-0.4298	10|5	0.66056|.	D|.	0.02|.	-10.5723|-10.5723	17.9308|17.9308	0.88996|0.88996	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	447;815;763;860;774;808|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550|.	.;.;.;.;.;KDM6A_HUMAN|.	Y|L	505;808;763;815;729|405;450	ENSP00000367203:H808Y;ENSP00000437405:H763Y;ENSP00000372355:H815Y;ENSP00000443078:H729Y|.	ENSP00000334340:H505Y|.	H|S	+|+	1|2	0|0	KDM6A|KDM6A	44814266|44814266	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	2.899000|2.899000	0.48679|0.48679	2.255000|2.255000	0.74692|0.74692	0.600000|0.600000	0.82982|0.82982	CAT|TCA	KDM6A	-	NULL		0.443	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929322	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM6A	7403	genome.wustl.edu	37	X	44929341	44929341	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929341C>T	ENST00000377967.4	+	17	2482	c.2441C>T	c.(2440-2442)tCt>tTt	p.S814F	KDM6A_ENST00000543216.1_Missense_Mutation_p.S735F|KDM6A_ENST00000536777.1_Missense_Mutation_p.S769F|KDM6A_ENST00000382899.4_Missense_Mutation_p.S821F	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	814	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						ACTGATAACTCTGTTGCCTCT	0.448			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											191.0	136.0	155.0					X																	44929341		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2441C>T	X.37:g.44929341C>T	ENSP00000367203:p.Ser814Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S821F	ENST00000377967.4	37	c.2462	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	15.61	2.884173	0.51908	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	D;D;D;D	0.82984	-1.67;-1.67;-1.67;-1.67	5.08	4.22	0.49857	.	0.209202	0.51477	N	0.000100	D	0.89238	0.6658	M	0.68952	2.095	0.58432	D	0.999992	B;D;D;D;D;D	0.71674	0.002;0.998;0.987;0.978;0.996;0.996	B;D;P;P;D;P	0.79108	0.002;0.992;0.894;0.836;0.932;0.905	D	0.89767	0.3951	10	0.87932	D	0	-0.1518	12.9144	0.58197	0.0:0.9189:0.0:0.0811	.	453;821;769;866;780;814	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	F	511;814;769;821;735	ENSP00000367203:S814F;ENSP00000437405:S769F;ENSP00000372355:S821F;ENSP00000443078:S735F	ENSP00000334340:S511F	S	+	2	0	KDM6A	44814285	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.696000	0.68287	1.050000	0.40346	0.600000	0.82982	TCT	KDM6A	-	NULL		0.448	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929341	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM6A	7403	genome.wustl.edu	37	X	44929353	44929353	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929353C>T	ENST00000377967.4	+	17	2494	c.2453C>T	c.(2452-2454)tCa>tTa	p.S818L	KDM6A_ENST00000543216.1_Missense_Mutation_p.S739L|KDM6A_ENST00000536777.1_Missense_Mutation_p.S773L|KDM6A_ENST00000382899.4_Missense_Mutation_p.S825L	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	818	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GTTGCCTCTTCACCATCTTCA	0.453			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											186.0	135.0	152.0					X																	44929353		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2453C>T	X.37:g.44929353C>T	ENSP00000367203:p.Ser818Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S825L	ENST00000377967.4	37	c.2474	CCDS14265.1	X	.	.	.	.	.	.	.	.	.	.	C	15.83	2.949539	0.53186	.	.	ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85	5.08	5.08	0.68730	.	0.186845	0.48767	D	0.000171	D	0.89914	0.6853	L	0.45581	1.43	0.80722	D	1	P;D;B;B;D;B	0.63046	0.816;0.992;0.033;0.02;0.987;0.02	B;D;B;B;D;B	0.71656	0.212;0.974;0.036;0.011;0.942;0.011	D	0.90778	0.4677	10	0.62326	D	0.03	-3.9997	17.9308	0.88996	0.0:1.0:0.0:0.0	.	457;825;773;870;784;818	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550	.;.;.;.;.;KDM6A_HUMAN	L	515;818;773;825;739	ENSP00000367203:S818L;ENSP00000437405:S773L;ENSP00000372355:S825L;ENSP00000443078:S739L	ENSP00000334340:S515L	S	+	2	0	KDM6A	44814297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.400000	0.79949	2.255000	0.74692	0.600000	0.82982	TCA	KDM6A	-	NULL		0.453	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929353	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM6A	7403	genome.wustl.edu	37	X	44929362	44929362	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:44929362C>G	ENST00000377967.4	+	17	2503	c.2462C>G	c.(2461-2463)tCa>tGa	p.S821*	KDM6A_ENST00000543216.1_Nonsense_Mutation_p.S742*|KDM6A_ENST00000536777.1_Nonsense_Mutation_p.S776*|KDM6A_ENST00000382899.4_Nonsense_Mutation_p.S828*	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	821	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCACCATCTTCAGCCATTTCA	0.453			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	6	Whole gene deletion(6)	oesophagus(2)|breast(2)|pancreas(2)											182.0	134.0	151.0					X																	44929362		2203	4300	6503	SO:0001587	stop_gained	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.2462C>G	X.37:g.44929362C>G	ENSP00000367203:p.Ser821*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL9|Q5JVQ7	Nonsense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S828*	ENST00000377967.4	37	c.2483	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	37|37	6.456237|6.456237	0.97581|0.97581	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000414389;ENST00000433797|ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216	.|.	.|.	.|.	5.08|5.08	5.08|5.08	0.68730|0.68730	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|.	0.73745|.	0.3626|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73883|.	-0.3842|.	3|.	.|0.39692	.|T	.|0.17	-0.0986|-0.0986	17.9308|17.9308	0.88996|0.88996	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	L|X	418;463|518;821;776;828;742	.|.	.|ENSP00000334340:S518X	F|S	+|+	3|2	2|0	KDM6A|KDM6A	44814306|44814306	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	7.291000|7.291000	0.78721|0.78721	2.255000|2.255000	0.74692|0.74692	0.600000|0.600000	0.82982|0.82982	TTC|TCA	KDM6A	-	NULL		0.453	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	C	NM_021140		44929362	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	nonsense	SNP	1.000	G
KDM5C	8242	genome.wustl.edu	37	X	53253979	53253979	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:53253979G>A	ENST00000375401.3	-	1	625	c.93C>T	c.(91-93)atC>atT	p.I31I	KDM5C_ENST00000375383.3_Silent_p.I31I|KDM5C_ENST00000452825.3_Silent_p.I31I|KDM5C_ENST00000404049.3_Silent_p.I31I|KDM5C_ENST00000375379.3_Silent_p.I31I	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	31	JmjN. {ECO:0000255|PROSITE- ProRule:PRU00537}.				histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGATTTTCGCGATGTAGCCAA	0.652			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	0													48.0	41.0	43.0					X																	53253979		2203	4300	6503	SO:0001819	synonymous_variant	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.93C>T	X.37:g.53253979G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Silent	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.I31	ENST00000375401.3	37	c.93	CCDS14351.1	X																																																																																			KDM5C	-	pfam_TF_JmjN,smart_TF_JmjN,pfscan_TF_JmjN		0.652	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	G	NM_004187		53253979	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	silent	SNP	0.979	A
KHDC1L	100129128	genome.wustl.edu	37	6	73933558	73933558	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:73933558C>T	ENST00000370388.3	-	3	343	c.300G>A	c.(298-300)ctG>ctA	p.L100L	RP11-257K9.8_ENST00000423730.3_3'UTR|KHDC1L_ENST00000471312.1_5'Flank	NM_001126063.2	NP_001119535.1	Q5JSQ8	KHDCL_HUMAN	KH homology domain containing 1-like	100										breast(1)|endometrium(1)|kidney(1)|lung(3)|skin(1)	7						CTAGCATCTTCAGACCTGCAA	0.567																																																	0													59.0	62.0	61.0					6																	73933558		692	1591	2283	SO:0001819	synonymous_variant	100129128			BC004267	CCDS47450.1	6q13	2014-05-15			ENSG00000256980	ENSG00000256980			37274	protein-coding gene	gene with protein product							Standard	NM_001126063		Approved	RP11-257K9.7	uc003pgm.4	Q5JSQ8	OTTHUMG00000132474	ENST00000370388.3:c.300G>A	6.37:g.73933558C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E1P535	Silent	SNP	NULL	p.L100	ENST00000370388.3	37	c.300	CCDS47450.1	6																																																																																			KHDC1L	-	NULL		0.567	KHDC1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KHDC1L	HGNC	protein_coding	OTTHUMT00000255640.1	C	NM_001126063		73933558	-1	no_errors	ENST00000370388	ensembl	human	known	70_37	silent	SNP	0.000	T
KIAA0195	9772	genome.wustl.edu	37	17	73482471	73482471	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:73482471G>C	ENST00000314256.7	+	5	767	c.373G>C	c.(373-375)Gag>Cag	p.E125Q	KIAA0195_ENST00000579208.1_Intron|KIAA0195_ENST00000583795.1_3'UTR|KIAA0195_ENST00000375248.5_Missense_Mutation_p.E135Q	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	125						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCGGGAGGTAGAGCGGAGGCT	0.587																																																	0													124.0	119.0	121.0					17																	73482471		2203	4300	6503	SO:0001583	missense	9772				CCDS32732.1	17q25.1	2012-03-01			ENSG00000177728	ENSG00000177728			28983	protein-coding gene	gene with protein product						8724849	Standard	NM_014738		Approved	TMEM94	uc002jnz.4	Q12767		ENST00000314256.7:c.373G>C	17.37:g.73482471G>C	ENSP00000313885:p.Glu125Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O75536|Q86XF1	Missense_Mutation	SNP	pfam_ATPase_P-typ_cation-transptr_C	p.E125Q	ENST00000314256.7	37	c.373	CCDS32732.1	17	.	.	.	.	.	.	.	.	.	.	G	16.95	3.263217	0.59431	.	.	ENSG00000177728	ENST00000314256;ENST00000375248	D;D	0.88431	-2.38;-2.38	4.98	4.98	0.66077	.	0.140082	0.47852	D	0.000202	D	0.83198	0.5202	N	0.19112	0.55	0.46241	D	0.998943	P;B	0.37015	0.578;0.093	B;B	0.38056	0.264;0.054	D	0.83582	0.0118	10	0.40728	T	0.16	-18.9013	18.2683	0.90059	0.0:0.0:1.0:0.0	.	135;125	C9JL75;Q12767	.;K0195_HUMAN	Q	125;135	ENSP00000313885:E125Q;ENSP00000364397:E135Q	ENSP00000313885:E125Q	E	+	1	0	KIAA0195	70994066	1.000000	0.71417	0.912000	0.35992	0.914000	0.54420	3.402000	0.52608	2.314000	0.78098	0.561000	0.74099	GAG	KIAA0195	-	NULL		0.587	KIAA0195-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0195	HGNC	protein_coding	OTTHUMT00000447303.1	G	NM_014738		73482471	+1	no_errors	ENST00000314256	ensembl	human	known	70_37	missense	SNP	0.993	C
KIAA0232	9778	genome.wustl.edu	37	4	6882621	6882621	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:6882621G>C	ENST00000307659.5	+	10	4571	c.4116G>C	c.(4114-4116)gaG>gaC	p.E1372D	KIAA0232_ENST00000425103.1_Missense_Mutation_p.E1372D	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1372							ATP binding (GO:0005524)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CCTCGGAAGAGACAGGCTCAG	0.498																																																	0													56.0	66.0	63.0					4																	6882621		1987	4150	6137	SO:0001583	missense	9778			D86985	CCDS43209.1	4p16.1	2012-11-29			ENSG00000170871	ENSG00000170871			28992	protein-coding gene	gene with protein product						9039502	Standard	NM_014743		Approved		uc003gjq.4	Q92628	OTTHUMG00000160072	ENST00000307659.5:c.4116G>C	4.37:g.6882621G>C	ENSP00000303928:p.Glu1372Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2D2	Missense_Mutation	SNP	NULL	p.E1372D	ENST00000307659.5	37	c.4116	CCDS43209.1	4	.	.	.	.	.	.	.	.	.	.	G	0.012	-1.682236	0.00745	.	.	ENSG00000170871	ENST00000425103;ENST00000307659	.	.	.	5.37	3.65	0.41850	.	0.203180	0.34002	N	0.004348	T	0.10680	0.0261	N	0.01352	-0.895	0.19300	N	0.999973	B	0.02656	0.0	B	0.01281	0.0	T	0.34775	-0.9815	9	0.02654	T	1	-20.9221	9.4038	0.38449	0.0:0.7726:0.15:0.0774	.	1372	Q92628	K0232_HUMAN	D	1372	.	ENSP00000303928:E1372D	E	+	3	2	KIAA0232	6933522	0.988000	0.35896	0.026000	0.17262	0.066000	0.16364	1.177000	0.31969	0.658000	0.30925	-1.083000	0.02208	GAG	KIAA0232	-	NULL		0.498	KIAA0232-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0232	HGNC	protein_coding	OTTHUMT00000359102.2	G	NM_014743		6882621	+1	no_errors	ENST00000307659	ensembl	human	known	70_37	missense	SNP	0.610	C
KIAA0319L	79932	genome.wustl.edu	37	1	35906603	35906603	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:35906603G>A	ENST00000325722.3	-	20	3197				KIAA0319L_ENST00000485551.1_5'UTR|KIAA0319L_ENST00000373266.4_Intron	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like							cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCCTTCCACAGAGAGAGTGCA	0.567																																																	0													95.0	87.0	89.0					1																	35906603		2203	4300	6503	SO:0001627	intron_variant	79932			AY163234	CCDS390.1	1p34.3	2008-10-24			ENSG00000142687	ENSG00000142687			30071	protein-coding gene	gene with protein product		613535				11347906	Standard	NM_024874		Approved	KIAA1837	uc001byx.3	Q8IZA0	OTTHUMG00000004370	ENST00000325722.3:c.2962+44C>T	1.37:g.35906603G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AN13|D3DPR8|O95010|Q6PJJ7|Q7L1C9|Q8N2B3|Q8NDA0|Q8WY39|Q8WYZ5|Q96IC3|Q96JJ0|Q9BUW6|Q9H7V0	RNA	SNP	-	NULL	ENST00000325722.3	37	NULL	CCDS390.1	1																																																																																			KIAA0319L	-	-		0.567	KIAA0319L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0319L	HGNC	protein_coding	OTTHUMT00000012684.2	G	NM_024874		35906603	-1	no_errors	ENST00000485551	ensembl	human	known	70_37	rna	SNP	0.000	A
KIAA0513	9764	genome.wustl.edu	37	16	85106603	85106603	+	Splice_Site	SNP	G	G	C	rs564854975		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:85106603G>C	ENST00000566428.1	+	4	1133	c.502G>C	c.(502-504)Gag>Cag	p.E168Q	KIAA0513_ENST00000538274.1_Splice_Site_p.E168Q|KIAA0513_ENST00000567328.1_Splice_Site_p.E168Q|KIAA0513_ENST00000258180.3_Splice_Site_p.E168Q			O60268	K0513_HUMAN	KIAA0513	168						cytoplasm (GO:0005737)				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		GGTGCTGTTCGAGTAAGTAAT	0.557																																																	0													194.0	148.0	164.0					16																	85106603		2199	4300	6499	SO:0001630	splice_region_variant	9764			AB011085	CCDS32499.1, CCDS67091.1, CCDS73919.1	16q24.1	2012-11-29			ENSG00000135709	ENSG00000135709			29058	protein-coding gene	gene with protein product		611675				9628581	Standard	XM_005256265		Approved		uc002fiu.3	O60268	OTTHUMG00000176597	ENST00000566428.1:c.503+1G>C	16.37:g.85106603G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSS5|D3DUM2|Q8N6G0	Missense_Mutation	SNP	pfam_SBF2	p.E168Q	ENST00000566428.1	37	c.502	CCDS32499.1	16	.	.	.	.	.	.	.	.	.	.	G	24.1	4.489440	0.84962	.	.	ENSG00000135709	ENST00000538274;ENST00000258180	T;T	0.35973	1.28;1.28	5.41	5.41	0.78517	.	0.000000	0.85682	D	0.000000	T	0.63283	0.2498	M	0.78637	2.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	T	0.67333	-0.5697	10	0.87932	D	0	-22.7646	17.7828	0.88529	0.0:0.0:1.0:0.0	.	168;168	B4DSS5;O60268	.;K0513_HUMAN	Q	168	ENSP00000446439:E168Q;ENSP00000258180:E168Q	ENSP00000258180:E168Q	E	+	1	0	KIAA0513	83664104	1.000000	0.71417	0.976000	0.42696	0.689000	0.40095	8.940000	0.92958	2.534000	0.85438	0.555000	0.69702	GAG	KIAA0513	-	NULL		0.557	KIAA0513-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0513	HGNC	protein_coding	OTTHUMT00000432736.1	G	NM_014732	Missense_Mutation	85106603	+1	no_errors	ENST00000258180	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA1109	84162	genome.wustl.edu	37	4	123160901	123160901	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:123160901C>T	ENST00000264501.4	+	29	4437	c.4064C>T	c.(4063-4065)tCa>tTa	p.S1355L	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1355L|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1355L			Q2LD37	K1109_HUMAN	KIAA1109	1355					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTACTAGACTCACCAAAGCAG	0.423																																																	0													115.0	109.0	111.0					4																	123160901		1953	4148	6101	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.4064C>T	4.37:g.123160901C>T	ENSP00000264501:p.Ser1355Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.S1355L	ENST00000264501.4	37	c.4064	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	C	28.4	4.915743	0.92178	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000455637	T;T;T	0.31510	2.1;2.1;1.49	5.98	5.98	0.97165	.	0.000000	0.42964	U	0.000623	T	0.45617	0.1351	N	0.24115	0.695	0.58432	D	0.999996	D	0.63880	0.993	D	0.72338	0.977	T	0.42682	-0.9437	10	0.87932	D	0	.	20.4561	0.99145	0.0:1.0:0.0:0.0	.	1355	Q2LD37	K1109_HUMAN	L	1355	ENSP00000264501:S1355L;ENSP00000373390:S1355L;ENSP00000389925:S1355L	ENSP00000264501:S1355L	S	+	2	0	KIAA1109	123380351	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.368000	0.79567	2.843000	0.97960	0.650000	0.86243	TCA	KIAA1109	-	NULL		0.423	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	C	NM_020797		123160901	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA1109	84162	genome.wustl.edu	37	4	123254926	123254926	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:123254926G>A	ENST00000264501.4	+	68	11981	c.11608G>A	c.(11608-11610)Gaa>Aaa	p.E3870K	KIAA1109_ENST00000388738.3_Missense_Mutation_p.E3870K			Q2LD37	K1109_HUMAN	KIAA1109	3870					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTGACTTAGAAACAACAGT	0.363																																																	0													93.0	82.0	85.0					4																	123254926		1847	4092	5939	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.11608G>A	4.37:g.123254926G>A	ENSP00000264501:p.Glu3870Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	pfam_Fragile_site-assoc_C	p.E3870K	ENST00000264501.4	37	c.11608	CCDS43267.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.628065	0.96671	.	.	ENSG00000138688	ENST00000264501;ENST00000388738;ENST00000438707	T;T;T	0.33865	2.24;2.24;1.39	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.56016	0.1957	L	0.47716	1.5	0.80722	D	1	D;D	0.67145	0.996;0.993	D;D	0.76071	0.987;0.971	T	0.56038	-0.8045	10	0.66056	D	0.02	.	19.4758	0.94987	0.0:0.0:1.0:0.0	.	3869;3870	Q2LD37-4;Q2LD37	.;K1109_HUMAN	K	3870;3870;574	ENSP00000264501:E3870K;ENSP00000373390:E3870K;ENSP00000410874:E574K	ENSP00000264501:E3870K	E	+	1	0	KIAA1109	123474376	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.813000	0.99286	2.673000	0.90976	0.467000	0.42956	GAA	KIAA1109	-	NULL		0.363	KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1109	HGNC	protein_coding	OTTHUMT00000316415.1	G	NM_020797		123254926	+1	no_errors	ENST00000264501	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1210	57481	genome.wustl.edu	37	X	118222063	118222063	+	Missense_Mutation	SNP	T	T	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:118222063T>G	ENST00000402510.2	-	11	3129	c.3130A>C	c.(3130-3132)Act>Cct	p.T1044P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	1044										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TCCACATAAGTGCCTTCCTCA	0.517																																																	0													125.0	126.0	126.0					X																	118222063		2065	4189	6254	SO:0001583	missense	57481			AB033036	CCDS48156.1	Xq24	2012-10-04			ENSG00000250423	ENSG00000250423			29218	protein-coding gene	gene with protein product						10574462	Standard	NM_020721		Approved		uc004era.4	Q9ULL0	OTTHUMG00000162980	ENST00000402510.2:c.3130A>C	X.37:g.118222063T>G	ENSP00000384670:p.Thr1044Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZCI8|Q5JPN4	Missense_Mutation	SNP	NULL	p.T1044P	ENST00000402510.2	37	c.3130	CCDS48156.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	10.50|10.50	1.366462|1.366462	0.24771|0.24771	.|.	.|.	ENSG00000248857|ENSG00000250423	ENST00000440399|ENST00000402510	.|T	.|0.10668	.|2.85	4.54|4.54	-0.599|-0.599	0.11645|0.11645	.|.	.|.	.|.	.|.	.|.	T|T	0.06280|0.06280	0.0162|0.0162	N|N	0.19112|0.19112	0.55|0.55	0.09310|0.09310	N|N	1|1	.|P	.|0.49253	.|0.921	.|B	.|0.40659	.|0.336	T|T	0.38286|0.38286	-0.9668|-0.9668	5|8	.|.	.|.	.|.	.|.	7.401|7.401	0.26965|0.26965	0.0:0.4907:0.0:0.5093|0.0:0.4907:0.0:0.5093	.|.	.|1044	.|Q9ULL0	.|K1210_HUMAN	P|P	450|1044	.|ENSP00000384670:T1044P	.|.	H|T	-|-	2|1	0|0	KIAA1210|RP13-347D8.6	118106091|118106091	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-0.015000|-0.015000	0.12634|0.12634	-0.206000|-0.206000	0.10203|0.10203	-0.314000|-0.314000	0.08810|0.08810	CAC|ACT	KIAA1210	-	NULL		0.517	KIAA1210-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1210	HGNC	protein_coding	OTTHUMT00000371251.2	T	NM_020721		118222063	-1	no_errors	ENST00000402510	ensembl	human	known	70_37	missense	SNP	0.000	G
KIAA1244	57221	genome.wustl.edu	37	6	138612946	138612946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:138612946C>T	ENST00000251691.4	+	19	3290	c.3124C>T	c.(3124-3126)Cag>Tag	p.Q1042*		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACCATCAGCCAGCCCCAGAA	0.662																																																	0													21.0	22.0	22.0					6																	138612946		2203	4298	6501	SO:0001587	stop_gained	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.3124C>T	6.37:g.138612946C>T	ENSP00000251691:p.Gln1042*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.Q1042*	ENST00000251691.4	37	c.3124	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	C	44	10.598065	0.99434	.	.	ENSG00000112379	ENST00000251691	.	.	.	5.55	5.55	0.83447	.	0.297104	0.35585	N	0.003106	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	-36.0864	19.1035	0.93283	0.0:1.0:0.0:0.0	.	.	.	.	X	1042	.	ENSP00000251691:Q1042X	Q	+	1	0	KIAA1244	138654639	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	4.185000	0.58330	2.612000	0.88384	0.655000	0.94253	CAG	KIAA1244	-	superfamily_ARM-type_fold		0.662	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	C	NM_020340		138612946	+1	no_errors	ENST00000251691	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIAA1407	57577	genome.wustl.edu	37	3	113729736	113729736	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:113729736C>T	ENST00000295878.3	-	9	1442	c.1296G>A	c.(1294-1296)aaG>aaA	p.K432K	KIAA1407_ENST00000545063.1_Silent_p.K263K	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	432										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						GTGCATCCATCTTCTTCCTAG	0.532																																																	0													161.0	140.0	147.0					3																	113729736		2203	4300	6503	SO:0001819	synonymous_variant	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1296G>A	3.37:g.113729736C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYL1|Q9P2E0	Silent	SNP	NULL	p.K432	ENST00000295878.3	37	c.1296	CCDS2977.1	3																																																																																			KIAA1407	-	NULL		0.532	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	C	NM_020817		113729736	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	silent	SNP	1.000	T
KIAA1429	25962	genome.wustl.edu	37	8	95539477	95539477	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:95539477G>A	ENST00000297591.5	-	8	1070	c.995C>T	c.(994-996)tCa>tTa	p.S332L	KIAA1429_ENST00000437199.1_Missense_Mutation_p.S332L|KIAA1429_ENST00000421249.2_Missense_Mutation_p.S332L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	332					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGGAGGAACTGAAGCTAAGTC	0.368																																																	0													90.0	90.0	90.0					8																	95539477		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.995C>T	8.37:g.95539477G>A	ENSP00000297591:p.Ser332Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S332L	ENST00000297591.5	37	c.995	CCDS34923.1	8	.	.	.	.	.	.	.	.	.	.	G	14.29	2.489889	0.44249	.	.	ENSG00000164944	ENST00000297591;ENST00000437199;ENST00000421249	T;T;T	0.46819	0.87;0.87;0.86	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.44767	0.1309	L	0.60455	1.87	0.58432	D	0.999999	P;B	0.37330	0.59;0.447	B;B	0.33690	0.168;0.168	T	0.37478	-0.9704	10	0.33141	T	0.24	-14.0154	16.1152	0.81302	0.0:0.1336:0.8664:0.0	.	332;332	Q69YN4-4;Q69YN4	.;VIR_HUMAN	L	332	ENSP00000297591:S332L;ENSP00000395600:S332L;ENSP00000398390:S332L	ENSP00000297591:S332L	S	-	2	0	KIAA1429	95608653	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.555000	0.82223	2.689000	0.91719	0.491000	0.48974	TCA	KIAA1429	-	NULL		0.368	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	G	NM_015496		95539477	-1	no_errors	ENST00000297591	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1551	55196	genome.wustl.edu	37	12	32145362	32145362	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:32145362G>C	ENST00000312561.4	+	6	5551	c.5137G>C	c.(5137-5139)Gag>Cag	p.E1713Q	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1713																	AGATGGATTTGAGATGCTACA	0.363																																																	0													132.0	147.0	142.0					12																	32145362		2203	4300	6503	SO:0001583	missense	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5137G>C	12.37:g.32145362G>C	ENSP00000310338:p.Glu1713Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Missense_Mutation	SNP	NULL	p.E1713Q	ENST00000312561.4	37	c.5137	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	10.33	1.319404	0.23994	.	.	ENSG00000174718	ENST00000312561	T	0.15256	2.44	5.57	4.49	0.54785	.	0.446516	0.21119	N	0.079845	T	0.32436	0.0829	L	0.50919	1.6	0.09310	N	1	D	0.76494	0.999	D	0.72075	0.976	T	0.03750	-1.1007	10	0.87932	D	0	.	9.8275	0.40921	0.0882:0.1459:0.7659:0.0	.	1713	Q9HCM1	CL035_HUMAN	Q	1713	ENSP00000310338:E1713Q	ENSP00000310338:E1713Q	E	+	1	0	C12orf35	32036629	1.000000	0.71417	0.414000	0.26521	0.023000	0.10783	2.985000	0.49362	2.602000	0.87976	0.655000	0.94253	GAG	KIAA1551	-	NULL		0.363	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	G	NM_018169		32145362	+1	no_errors	ENST00000312561	ensembl	human	known	70_37	missense	SNP	0.024	C
KIAA1683	80726	genome.wustl.edu	37	19	18376082	18376082	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:18376082G>A	ENST00000600328.3	-	3	2461	c.2268C>T	c.(2266-2268)ctC>ctT	p.L756L	KIAA1683_ENST00000600359.3_Silent_p.L710L|KIAA1683_ENST00000392413.4_Silent_p.L756L			Q9H0B3	K1683_HUMAN	KIAA1683	756						mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GCGCTGGGATGAGGCACGTGG	0.637																																																	0													113.0	105.0	108.0					19																	18376082		2203	4300	6503	SO:0001819	synonymous_variant	80726			AB051470	CCDS32958.1, CCDS46017.1, CCDS46018.1	19p13.1	2008-02-05				ENSG00000130518			29350	protein-coding gene	gene with protein product						11214970, 11230166	Standard	NM_025249		Approved		uc010ebn.2	Q9H0B3		ENST00000600328.3:c.2268C>T	19.37:g.18376082G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYH2|E9PDE0|E9PH54|Q2KHR5|Q8N4G8|Q96M14|Q9C0I0	Silent	SNP	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.L756	ENST00000600328.3	37	c.2268	CCDS32958.1	19																																																																																			KIAA1683	-	NULL		0.637	KIAA1683-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1683	HGNC	protein_coding	OTTHUMT00000466312.3	G			18376082	-1	no_errors	ENST00000392413	ensembl	human	known	70_37	silent	SNP	0.002	A
KIAA1875	340390	genome.wustl.edu	37	8	145163617	145163617	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145163617G>T	ENST00000323662.8	+	3	673	c.648G>T	c.(646-648)atG>atT	p.M216I				A6NE52	K1875_HUMAN	KIAA1875	216										large_intestine(1)	1						TTGCGGAGATGAACAGCAGCC	0.706																																																	0																																										SO:0001583	missense	340390			AB058778		8q24.3	2013-01-10			ENSG00000179698	ENSG00000179698		"""WD repeat domain containing"""	26959	protein-coding gene	gene with protein product						11347906	Standard	NR_024207		Approved		uc011lky.1	A6NE52	OTTHUMG00000165245	ENST00000323662.8:c.648G>T	8.37:g.145163617G>T	ENSP00000320648:p.Met216Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96JF2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.M216I	ENST00000323662.8	37	c.648		8	.	.	.	.	.	.	.	.	.	.	G	2.122	-0.401219	0.04865	.	.	ENSG00000179698	ENST00000323662	T	0.05319	3.46	4.24	-0.745	0.11098	.	1.346760	0.05518	N	0.561519	T	0.06735	0.0172	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.46898	-0.9158	7	0.33141	T	0.24	-6.1174	8.3047	0.32036	0.1423:0.1616:0.6961:0.0	.	.	.	.	I	216	ENSP00000320648:M216I	ENSP00000320648:M216I	M	+	3	0	KIAA1875	145235605	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.011000	0.03652	-0.282000	0.09128	0.561000	0.74099	ATG	KIAA1875	-	superfamily_WD40_repeat_dom		0.706	KIAA1875-007	PUTATIVE	basic|appris_principal	protein_coding	KIAA1875	HGNC	protein_coding	OTTHUMT00000382917.1	G	NM_032529		145163617	+1	no_errors	ENST00000534167	ensembl	human	known	70_37	missense	SNP	0.000	T
KIAA1875	340390	genome.wustl.edu	37	8	145164292	145164292	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145164292C>T	ENST00000323662.8	+	5	1080	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L				A6NE52	K1875_HUMAN	KIAA1875	352										large_intestine(1)	1						TTGTCGGCCTCGCAGGACGGG	0.706																																																	0																																										SO:0001583	missense	340390			AB058778		8q24.3	2013-01-10			ENSG00000179698	ENSG00000179698		"""WD repeat domain containing"""	26959	protein-coding gene	gene with protein product						11347906	Standard	NR_024207		Approved		uc011lky.1	A6NE52	OTTHUMG00000165245	ENST00000323662.8:c.1055C>T	8.37:g.145164292C>T	ENSP00000320648:p.Ser352Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96JF2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S352L	ENST00000323662.8	37	c.1055		8	.	.	.	.	.	.	.	.	.	.	C	20.4	3.981122	0.74474	.	.	ENSG00000179698	ENST00000323662	T	0.74421	-0.84	4.75	4.75	0.60458	.	0.263452	0.20346	N	0.094141	T	0.76471	0.3992	.	.	.	0.31497	N	0.66528	D	0.61080	0.989	P	0.48488	0.579	T	0.81258	-0.1014	9	0.87932	D	0	-19.869	15.2956	0.73906	0.0:1.0:0.0:0.0	.	352	A6NE52-2	.	L	352	ENSP00000320648:S352L	ENSP00000320648:S352L	S	+	2	0	KIAA1875	145236280	0.960000	0.32886	0.844000	0.33320	0.012000	0.07955	2.154000	0.42291	2.490000	0.84030	0.561000	0.74099	TCG	KIAA1875	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.706	KIAA1875-007	PUTATIVE	basic|appris_principal	protein_coding	KIAA1875	HGNC	protein_coding	OTTHUMT00000382917.1	C	NM_032529		145164292	+1	no_errors	ENST00000534167	ensembl	human	known	70_37	missense	SNP	0.869	T
CCDC183	84960	genome.wustl.edu	37	9	139690910	139690910	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:139690910C>G	ENST00000338005.6	+	1	96	c.61C>G	c.(61-63)Cag>Gag	p.Q21E	RP11-216L13.19_ENST00000415992.1_RNA|RP11-216L13.17_ENST00000456614.2_Intron|KIAA1984_ENST00000371682.3_3'UTR	NM_001039374.4	NP_001034463.4	Q5T5S1	CC183_HUMAN		21										biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		GACCATCACTCAGCTCCAGGG	0.572																																																	0													25.0	35.0	32.0					9																	139690910		2011	4145	6156	SO:0001583	missense	84960																														ENST00000338005.6:c.61C>G	9.37:g.139690910C>G	ENSP00000338013:p.Gln21Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP89|C9JD38|Q6P2D9|Q8NAI4|Q8TF18	Missense_Mutation	SNP	NULL	p.Q21E	ENST00000338005.6	37	c.61	CCDS43906.1	9	.	.	.	.	.	.	.	.	.	.	C	4.056	0.008112	0.07912	.	.	ENSG00000213213	ENST00000423962;ENST00000338005	T	0.11930	2.73	3.95	-1.0	0.10196	.	2.121240	0.03389	U	0.201505	T	0.07908	0.0198	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.08055	0.003	T	0.35574	-0.9783	10	0.20519	T	0.43	-10.1073	10.2492	0.43360	0.6958:0.3042:0.0:0.0	.	21	Q5T5S1	K1984_HUMAN	E	21	ENSP00000338013:Q21E	ENSP00000338013:Q21E	Q	+	1	0	KIAA1984	138810731	0.000000	0.05858	0.469000	0.27204	0.407000	0.30961	-1.041000	0.03542	0.020000	0.15106	0.491000	0.48974	CAG	KIAA1984	-	NULL		0.572	KIAA1984-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1984	HGNC	protein_coding	OTTHUMT00000354899.1	C			139690910	+1	no_errors	ENST00000338005	ensembl	human	known	70_37	missense	SNP	0.105	G
KIAA2013	90231	genome.wustl.edu	37	1	11983500	11983500	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:11983500G>A	ENST00000376572.3	-	2	1265	c.1080C>T	c.(1078-1080)ctC>ctT	p.L360L	KIAA2013_ENST00000376576.3_Silent_p.L360L	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	360						integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTTCACGGTGAGGCCAGACG	0.597																																																	0													129.0	116.0	120.0					1																	11983500		2203	4300	6503	SO:0001819	synonymous_variant	90231			AB095933	CCDS141.1	1p36.22	2011-02-09			ENSG00000116685	ENSG00000116685			28513	protein-coding gene	gene with protein product						12477932	Standard	NM_138346		Approved	MGC33867, RP5-1077B9.1	uc001atk.3	Q8IYS2	OTTHUMG00000002391	ENST00000376572.3:c.1080C>T	1.37:g.11983500G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXC1|Q8IVF8|Q8NDI7|Q9BSY1	Silent	SNP	pfam_DUF2152	p.L360	ENST00000376572.3	37	c.1080	CCDS141.1	1																																																																																			KIAA2013	-	pfam_DUF2152		0.597	KIAA2013-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA2013	HGNC	protein_coding	OTTHUMT00000006858.1	G	NM_138346		11983500	-1	no_errors	ENST00000376576	ensembl	human	known	70_37	silent	SNP	0.999	A
KIAA2026	158358	genome.wustl.edu	37	9	6007599	6007599	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:6007599C>T	ENST00000399933.3	-	1	188	c.189G>A	c.(187-189)atG>atA	p.M63I	KIAA2026_ENST00000381461.2_Missense_Mutation_p.M63I|MIR4665_ENST00000581132.1_RNA	NM_001017969.2	NP_001017969.2	Q5HYC2	K2026_HUMAN	KIAA2026	63										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTCCGATCACCATCGCCTCCA	0.672																																																	0													33.0	41.0	39.0					9																	6007599		2089	4211	6300	SO:0001583	missense	158358			AB095946		9p24.1	2014-01-10			ENSG00000183354	ENSG00000183354			23378	protein-coding gene	gene with protein product							Standard	NM_001017969		Approved	FLJ20375	uc003zjq.4	Q5HYC2	OTTHUMG00000019507	ENST00000399933.3:c.189G>A	9.37:g.6007599C>T	ENSP00000382815:p.Met63Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTP2|B9EGW7|Q4VXA2|Q8IVE5	Missense_Mutation	SNP	superfamily_Bromodomain	p.M63I	ENST00000399933.3	37	c.189		9	.	.	.	.	.	.	.	.	.	.	C	9.433	1.086037	0.20390	.	.	ENSG00000183354	ENST00000399933;ENST00000381461;ENST00000513355	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	T	0.24353	0.0590	N	0.08118	0	0.21290	N	0.999735	B	0.20780	0.048	B	0.11329	0.006	T	0.13072	-1.0523	8	0.52906	T	0.07	.	11.1585	0.48501	0.0:1.0:0.0:0.0	.	63	Q5HYC2	K2026_HUMAN	I	63	.	ENSP00000370870:M63I	M	-	3	0	KIAA2026	5997599	0.005000	0.15991	0.998000	0.56505	0.417000	0.31264	1.461000	0.35255	2.081000	0.62600	0.491000	0.48974	ATG	KIAA2026	-	NULL		0.672	KIAA2026-002	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	KIAA2026	HGNC	protein_coding	OTTHUMT00000051652.2	C	NM_001017969		6007599	-1	no_errors	ENST00000399933	ensembl	human	novel	70_37	missense	SNP	0.986	T
KIDINS220	57498	genome.wustl.edu	37	2	8931331	8931331	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:8931331C>G	ENST00000256707.3	-	13	1481	c.1300G>C	c.(1300-1302)Gac>Cac	p.D434H	KIDINS220_ENST00000418530.1_Missense_Mutation_p.D392H|KIDINS220_ENST00000319688.5_Missense_Mutation_p.D435H|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D434H|KIDINS220_ENST00000427284.1_Missense_Mutation_p.D434H	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	434					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGTCACCGTCTGTTTCAGTA	0.393																																																	0													85.0	82.0	83.0					2																	8931331		1904	4122	6026	SO:0001583	missense	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1300G>C	2.37:g.8931331C>G	ENSP00000256707:p.Asp434His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Missense_Mutation	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.D434H	ENST00000256707.3	37	c.1300	CCDS42650.1	2	.	.	.	.	.	.	.	.	.	.	C	19.52	3.843873	0.71488	.	.	ENSG00000134313	ENST00000496383;ENST00000541927;ENST00000256707;ENST00000427284;ENST00000418530;ENST00000473731;ENST00000489024;ENST00000319688	T;T;T;T;T;T;T	0.68025	0.83;-0.3;-0.26;-0.18;-0.26;-0.22;-0.21	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	T	0.73590	0.3606	N	0.22421	0.69	0.80722	D	1	D;D;D;D	0.89917	0.99;0.997;1.0;1.0	P;D;D;D	0.91635	0.647;0.96;0.999;0.998	T	0.75345	-0.3350	10	0.52906	T	0.07	.	19.6632	0.95882	0.0:1.0:0.0:0.0	.	435;435;392;434	B4DK94;E9PH70;Q9ULH0-2;Q9ULH0	.;.;.;KDIS_HUMAN	H	181;118;434;434;392;434;435;435	ENSP00000420364:D181H;ENSP00000256707:D434H;ENSP00000411849:D434H;ENSP00000414923:D392H;ENSP00000418974:D434H;ENSP00000419964:D435H;ENSP00000319947:D435H	ENSP00000256707:D434H	D	-	1	0	KIDINS220	8848782	1.000000	0.71417	0.107000	0.21349	0.436000	0.31835	7.372000	0.79612	2.716000	0.92895	0.655000	0.94253	GAC	KIDINS220	-	NULL		0.393	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8931331	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	missense	SNP	0.995	G
KIF13B	23303	genome.wustl.edu	37	8	28988056	28988056	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:28988056G>A	ENST00000524189.1	-	24	3107	c.3069C>T	c.(3067-3069)ctC>ctT	p.L1023L	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1023					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)	p.L1023L(1)		endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TTACCTGCCGGAGCTGGAAGA	0.393																																																	1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)											127.0	120.0	122.0					8																	28988056		1878	4112	5990	SO:0001819	synonymous_variant	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.3069C>T	8.37:g.28988056G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Silent	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L1023	ENST00000524189.1	37	c.3069	CCDS55217.1	8																																																																																			KIF13B	-	pfam_Kinesin-like		0.393	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	G			28988056	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	silent	SNP	1.000	A
KIF19	124602	genome.wustl.edu	37	17	72350453	72350453	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:72350453G>A	ENST00000389916.4	+	18	2599	c.2461G>A	c.(2461-2463)Gcg>Acg	p.A821T	AC103809.2_ENST00000599136.1_5'Flank	NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	821					ATP catabolic process (GO:0006200)|axonemal microtubule depolymerization (GO:0060404)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|plus-end specific microtubule depolymerization (GO:0070462)	cilium (GO:0005929)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GGGCGACGATGCGCGGCCACC	0.726																																																	0													10.0	15.0	14.0					17																	72350453		2022	4173	6195	SO:0001583	missense	124602			AK094619	CCDS32718.2	17q25	2007-02-13			ENSG00000196169	ENSG00000196169		"""Kinesins"""	26735	protein-coding gene	gene with protein product						11416179	Standard	NM_153209		Approved	FLJ37300, KIF19A	uc031rei.1	Q2TAC6	OTTHUMG00000150694	ENST00000389916.4:c.2461G>A	17.37:g.72350453G>A	ENSP00000374566:p.Ala821Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLG2|B7ZKR1|Q52M87|Q8N1X8|Q8TAB6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A821T	ENST00000389916.4	37	c.2461	CCDS32718.2	17	.	.	.	.	.	.	.	.	.	.	G	5.464	0.270596	0.10349	.	.	ENSG00000196169	ENST00000389916	T	0.71817	-0.6	4.81	-1.74	0.08056	.	.	.	.	.	T	0.39279	0.1072	N	0.04959	-0.14	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.17868	-1.0355	9	0.22109	T	0.4	.	1.0277	0.01531	0.164:0.2176:0.2966:0.3219	.	821	Q2TAC6	KIF19_HUMAN	T	821	ENSP00000374566:A821T	ENSP00000374566:A821T	A	+	1	0	KIF19	69862048	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	0.155000	0.16362	0.060000	0.16281	0.556000	0.70494	GCG	KIF19	-	NULL		0.726	KIF19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF19	HGNC	protein_coding	OTTHUMT00000319644.2	G	NM_153209		72350453	+1	no_errors	ENST00000389916	ensembl	human	known	70_37	missense	SNP	0.007	A
KIF1A	547	genome.wustl.edu	37	2	241697000	241697000	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:241697000G>C	ENST00000320389.7	-	25	2714				KIF1A_ENST00000498729.2_Missense_Mutation_p.S865C	NM_004321.6	NP_004312.2	Q12756	KIF1A_HUMAN	kinesin family member 1A						anterograde axon cargo transport (GO:0008089)|ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GTTGCAGCCAGAGATGGCTGA	0.632																																																	0																																										SO:0001627	intron_variant	547			AF004425	CCDS46561.1, CCDS58757.1	2q37.2	2014-09-17	2004-01-09	2004-01-14	ENSG00000130294	ENSG00000130294		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	888	protein-coding gene	gene with protein product		601255	"""axonal transport of synaptic vesicles"", ""chromosome 2 open reading frame 20"", ""spastic paraplegia 30 (autosomal recessive)"""	ATSV, C2orf20, SPG30		7539720, 10323250, 22258533	Standard	NM_001244008		Approved	UNC104	uc010fzk.3	Q12756	OTTHUMG00000151940	ENST00000320389.7:c.2555+776C>G	2.37:g.241697000G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1S5|F5H045|O95068|Q13355|Q14752|Q2NKJ6|Q4LE42|Q53T78|Q59GH1|Q63Z40|Q6P1R9|Q7KZ57	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_Pleckstrin_homology,pfam_KIF1B,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,smart_FHA_dom,smart_Pleckstrin_homology,pfscan_FHA_dom,pfscan_Pleckstrin_homology,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S865C	ENST00000320389.7	37	c.2594	CCDS46561.1	2	.	.	.	.	.	.	.	.	.	.	G	16.75	3.209614	0.58343	.	.	ENSG00000130294	ENST00000498729;ENST00000373308;ENST00000404283	T;T	0.74632	-0.8;-0.86	4.7	3.81	0.43845	.	.	.	.	.	T	0.79058	0.4382	.	.	.	0.28028	N	0.934239	P;P	0.49447	0.924;0.867	P;P	0.53313	0.723;0.54	T	0.71283	-0.4639	8	0.38643	T	0.18	.	14.1669	0.65483	0.0:0.0:0.8488:0.1512	.	865;865	F5H045;Q12756-2	.;.	C	865	ENSP00000438388:S865C;ENSP00000384231:S865C	ENSP00000362405:S865C	S	-	2	0	KIF1A	241345673	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.881000	0.92415	0.956000	0.37904	0.462000	0.41574	TCT	KIF1A	-	NULL		0.632	KIF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF1A	HGNC	protein_coding	OTTHUMT00000324536.3	G	NM_138483		241697000	-1	no_errors	ENST00000498729	ensembl	human	known	70_37	missense	SNP	1.000	C
KIF26B	55083	genome.wustl.edu	37	1	245765894	245765894	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:245765894C>T	ENST00000407071.2	+	6	1806	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	KIF26B_ENST00000366518.4_Missense_Mutation_p.R75C	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	456	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)	p.R456C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGTCATGCTTCGCATCTGTTC	0.478																																																	1	Substitution - Missense(1)	large_intestine(1)											50.0	51.0	51.0					1																	245765894		1990	4160	6150	SO:0001583	missense	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1366C>T	1.37:g.245765894C>T	ENSP00000385545:p.Arg456Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R456C	ENST00000407071.2	37	c.1366	CCDS44342.1	1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023538	0.75390	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	T;T	0.51817	0.69;0.69	5.23	5.23	0.72850	Kinesin, motor domain (3);	.	.	.	.	T	0.80507	0.4636	H	0.96777	3.88	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	D	0.87219	0.2252	9	0.87932	D	0	.	19.1618	0.93535	0.0:1.0:0.0:0.0	.	75;456	B7WPD9;Q2KJY2	.;KI26B_HUMAN	C	456;75;72	ENSP00000385545:R456C;ENSP00000355475:R75C	ENSP00000355475:R75C	R	+	1	0	KIF26B	243832517	0.999000	0.42202	1.000000	0.80357	0.986000	0.74619	3.938000	0.56583	2.602000	0.87976	0.655000	0.94253	CGC	KIF26B	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.478	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	C	XM_371354		245765894	+1	no_errors	ENST00000407071	ensembl	human	known	70_37	missense	SNP	1.000	T
KIF3C	3797	genome.wustl.edu	37	2	26152236	26152236	+	Silent	SNP	G	G	A	rs374585543		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:26152236G>A	ENST00000264712.3	-	7	2805	c.2226C>T	c.(2224-2226)ctC>ctT	p.L742L	KIF3C_ENST00000496378.1_5'Flank|KIF3C_ENST00000405914.1_Silent_p.L742L	NM_002254.6	NP_002245	O14782	KIF3C_HUMAN	kinesin family member 3C	742	Globular. {ECO:0000255}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle transport along microtubule (GO:0072384)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATCGCATGAGCCTCTCCA	0.522													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19820	0.0		0.0	False		,,,				2504	0.0																0								G		1,4405	2.1+/-5.4	0,1,2202	122.0	109.0	113.0		2226	3.6	1.0	2		113	0,8600		0,0,4300	no	coding-synonymous	KIF3C	NM_002254.6		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		742/794	26152236	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	3797				CCDS1719.1	2p23	2008-02-05			ENSG00000084731	ENSG00000084731		"""Kinesins"""	6321	protein-coding gene	gene with protein product		602845				9480755	Standard	NM_002254		Approved		uc002rgu.2	O14782	OTTHUMG00000094797	ENST00000264712.3:c.2226C>T	2.37:g.26152236G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43544|Q4ZG18|Q53SX5|Q562F7	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L742	ENST00000264712.3	37	c.2226	CCDS1719.1	2																																																																																			KIF3C	-	NULL		0.522	KIF3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF3C	HGNC	protein_coding	OTTHUMT00000211611.1	G			26152236	-1	no_errors	ENST00000264712	ensembl	human	known	70_37	silent	SNP	1.000	A
KIF5A	3798	genome.wustl.edu	37	12	57944127	57944127	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:57944127C>T	ENST00000455537.2	+	1	347	c.73C>T	c.(73-75)Ctg>Ttg	p.L25L	KIF5A_ENST00000286452.5_Silent_p.L25L	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	25	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein localization (GO:0008104)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						GGCTGAGATTCTGCGGGGAGA	0.612																																																	0													89.0	79.0	82.0					12																	57944127		2203	4300	6503	SO:0001819	synonymous_variant	3798			U06698	CCDS8945.1	12q13.13	2011-07-15	2004-02-13			ENSG00000155980		"""Kinesins"""	6323	protein-coding gene	gene with protein product		602821	"""spastic paraplegia 10 (autosomal dominant)"""	SPG10		9858832, 10441583, 16489470	Standard	NM_004984		Approved	D12S1889, NKHC, MY050	uc001sor.1	Q12840	OTTHUMG00000170143	ENST00000455537.2:c.73C>T	12.37:g.57944127C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8M5|Q4LE26	Silent	SNP	pfam_Kinesin_motor_dom,superfamily_Prefoldin,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L25	ENST00000455537.2	37	c.73	CCDS8945.1	12																																																																																			KIF5A	-	smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.612	KIF5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF5A	HGNC	protein_coding	OTTHUMT00000407634.1	C	NM_004984		57944127	+1	no_errors	ENST00000455537	ensembl	human	known	70_37	silent	SNP	0.985	T
KIF6	221458	genome.wustl.edu	37	6	39512397	39512397	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:39512397C>G	ENST00000287152.7	-	12	1454	c.1360G>C	c.(1360-1362)Gaa>Caa	p.E454Q	KIF6_ENST00000538893.1_Missense_Mutation_p.E454Q|KIF6_ENST00000373215.3_Missense_Mutation_p.E454Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E454Q|KIF6_ENST00000373213.4_Missense_Mutation_p.E293Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	454					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTAATGGTTCTTGACAATCT	0.338																																																	0													169.0	156.0	161.0					6																	39512397		2203	4299	6502	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1360G>C	6.37:g.39512397C>G	ENSP00000287152:p.Glu454Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E454Q	ENST00000287152.7	37	c.1360	CCDS4844.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.637|8.637	0.894995|0.894995	0.17613|0.17613	.|.	.|.	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.72167|.	-0.55;-0.56;-0.37;-0.55;-0.63|.	5.3|5.3	2.48|2.48	0.30137|0.30137	.|.	.|.	.|.	.|.	.|.	T|T	0.19446|0.19446	0.0467|0.0467	L|L	0.46157|0.46157	1.445|1.445	0.09310|0.09310	N|N	1|1	B;B;B;B|.	0.33477|.	0.244;0.284;0.413;0.242|.	B;B;B;B|.	0.32465|.	0.146;0.097;0.128;0.064|.	T|T	0.15665|0.15665	-1.0429|-1.0429	9|5	0.19590|.	T|.	0.45|.	.|.	4.7844|4.7844	0.13219|0.13219	0.1878:0.656:0.0:0.1562|0.1878:0.656:0.0:0.1562	.|.	454;454;454;454|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	Q|N	454;454;293;454;454|345	ENSP00000287152:E454Q;ENSP00000362312:E454Q;ENSP00000362309:E293Q;ENSP00000362311:E454Q;ENSP00000441435:E454Q|.	ENSP00000287152:E454Q|.	E|K	-|-	1|3	0|2	KIF6|KIF6	39620375|39620375	0.032000|0.032000	0.19561|0.19561	0.735000|0.735000	0.30896|0.30896	0.699000|0.699000	0.40488|0.40488	0.950000|0.950000	0.29122|0.29122	1.215000|1.215000	0.43411|0.43411	0.609000|0.609000	0.83330|0.83330	GAA|AAG	KIF6	-	NULL		0.338	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	C	NM_145027		39512397	-1	no_errors	ENST00000287152	ensembl	human	known	70_37	missense	SNP	0.003	G
KIF6	221458	genome.wustl.edu	37	6	39581039	39581039	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:39581039G>C	ENST00000287152.7	-	6	659	c.565C>G	c.(565-567)Ctc>Gtc	p.L189V	KIF6_ENST00000538893.1_Missense_Mutation_p.L189V|KIF6_ENST00000373215.3_Missense_Mutation_p.L189V|KIF6_ENST00000373216.3_Missense_Mutation_p.L189V|KIF6_ENST00000373213.4_Missense_Mutation_p.L28V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	189	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GCCTGATGGAGAGTCAAGTTT	0.418																																																	0													118.0	112.0	114.0					6																	39581039		2203	4300	6503	SO:0001583	missense	221458			AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.565C>G	6.37:g.39581039G>C	ENSP00000287152:p.Leu189Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.L189V	ENST00000287152.7	37	c.565	CCDS4844.1	6	.	.	.	.	.	.	.	.	.	.	G	10.85	1.467453	0.26335	.	.	ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893	T;T;T;T;T	0.74842	-0.88;-0.88;-0.88;-0.88;-0.88	5.29	5.29	0.74685	Kinesin, motor domain (4);	.	.	.	.	T	0.45397	0.1340	N	0.02665	-0.54	0.80722	D	1	P;B;P	0.48162	0.708;0.34;0.906	B;B;P	0.49561	0.331;0.108;0.615	T	0.55082	-0.8196	9	0.26408	T	0.33	.	13.2789	0.60202	0.0772:0.0:0.9228:0.0	.	189;189;189	E7EUN7;F6VGH2;Q6ZMV9	.;.;KIF6_HUMAN	V	189;189;28;189;189	ENSP00000287152:L189V;ENSP00000362312:L189V;ENSP00000362309:L28V;ENSP00000362311:L189V;ENSP00000441435:L189V	ENSP00000287152:L189V	L	-	1	0	KIF6	39689017	1.000000	0.71417	0.992000	0.48379	0.690000	0.40134	2.279000	0.43435	2.640000	0.89533	0.650000	0.86243	CTC	KIF6	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.418	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIF6	HGNC	protein_coding	OTTHUMT00000040455.2	G	NM_145027		39581039	-1	no_errors	ENST00000287152	ensembl	human	known	70_37	missense	SNP	0.957	C
KIF7	374654	genome.wustl.edu	37	15	90173618	90173618	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:90173618G>A	ENST00000394412.3	-	16	3294	c.3218C>T	c.(3217-3219)tCa>tTa	p.S1073L	KIF7_ENST00000558928.1_5'Flank	NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	1073					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CAACGAGGCTGAGGCCCGAAG	0.572																																																	0													63.0	58.0	60.0					15																	90173618		2200	4299	6499	SO:0001583	missense	374654			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.3218C>T	15.37:g.90173618G>A	ENSP00000377934:p.Ser1073Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S1073L	ENST00000394412.3	37	c.3218	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	G	32	5.185198	0.94885	.	.	ENSG00000166813	ENST00000394412	T	0.73152	-0.72	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.84520	0.5490	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.85130	0.997;0.994	D	0.86208	0.1623	10	0.72032	D	0.01	.	18.812	0.92061	0.0:0.0:1.0:0.0	.	559;1073	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	L	1073	ENSP00000377934:S1073L	ENSP00000377934:S1073L	S	-	2	0	KIF7	87974622	1.000000	0.71417	0.996000	0.52242	0.890000	0.51754	9.691000	0.98679	2.422000	0.82143	0.462000	0.41574	TCA	KIF7	-	NULL		0.572	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	G	NM_198525		90173618	-1	no_errors	ENST00000394412	ensembl	human	known	70_37	missense	SNP	1.000	A
KIRREL3	84623	genome.wustl.edu	37	11	126316661	126316661	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:126316661G>C	ENST00000525144.2	-	9	1367	c.1118C>G	c.(1117-1119)tCc>tGc	p.S373C	KIRREL3_ENST00000525704.2_Missense_Mutation_p.S373C|KIRREL3_ENST00000529097.2_Missense_Mutation_p.S373C	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	373	Ig-like C2-type 4.				hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CACCACTCCGGAGCCCCGCTT	0.632																																																	0													24.0	27.0	26.0					11																	126316661		2006	4157	6163	SO:0001583	missense	84623			AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.1118C>G	11.37:g.126316661G>C	ENSP00000435466:p.Ser373Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S373C	ENST00000525144.2	37	c.1118	CCDS53723.1	11	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187299	0.57909	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	T;T;T	0.70164	-0.46;-0.46;-0.46	4.77	4.77	0.60923	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.83138	0.5189	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	0.999;0.992;1.0	D;P;D	0.76071	0.935;0.873;0.987	D	0.86445	0.1769	10	0.87932	D	0	.	17.3848	0.87413	0.0:0.0:1.0:0.0	.	373;373;373	Q8IZU9-2;E9PRX9;Q8IZU9	.;.;KIRR3_HUMAN	C	373	ENSP00000435466:S373C;ENSP00000434081:S373C;ENSP00000435094:S373C	ENSP00000435466:S373C	S	-	2	0	KIRREL3	125821871	1.000000	0.71417	0.784000	0.31847	0.148000	0.21650	9.828000	0.99408	2.188000	0.69820	0.297000	0.19635	TCC	KIRREL3	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.632	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIRREL3	HGNC	protein_coding	OTTHUMT00000386479.2	G	NM_032531		126316661	-1	no_errors	ENST00000525144	ensembl	human	known	70_37	missense	SNP	1.000	C
KIT	3815	genome.wustl.edu	37	4	55595645	55595645	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:55595645C>T	ENST00000288135.5	+	14	2232	c.2135C>T	c.(2134-2136)tCt>tTt	p.S712F		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	712	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TCAAAGGAGTCTTCCTGGTAA	0.353		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																														yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	"""L, M, O, E"""	0													96.0	103.0	101.0					4																	55595645		2203	4300	6503	SO:0001583	missense	3815	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2135C>T	4.37:g.55595645C>T	ENSP00000288135:p.Ser712Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.S712F	ENST00000288135.5	37	c.2135	CCDS3496.1	4	.	.	.	.	.	.	.	.	.	.	C	3.247	-0.154179	0.06585	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	T;T	0.79352	-1.26;-1.26	6.06	4.32	0.51571	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	1.003690	0.08022	N	0.992141	T	0.79034	0.4378	L	0.58510	1.815	0.09310	N	1	B;B;P	0.41232	0.215;0.419;0.743	B;B;P	0.49387	0.027;0.308;0.609	T	0.64786	-0.6325	10	0.27785	T	0.31	.	5.5016	0.16831	0.1436:0.6463:0.0:0.2101	.	219;708;712	D5MAV8;P10721-2;P10721	.;.;KIT_HUMAN	F	712;708	ENSP00000288135:S712F;ENSP00000390987:S708F	ENSP00000288135:S712F	S	+	2	0	KIT	55290402	0.000000	0.05858	0.403000	0.26384	0.219000	0.24729	0.901000	0.28445	1.565000	0.49641	0.655000	0.94253	TCT	KIT	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.353	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KIT	HGNC	protein_coding	OTTHUMT00000250618.1	C			55595645	+1	no_errors	ENST00000288135	ensembl	human	known	70_37	missense	SNP	0.002	T
KLHL42	57542	genome.wustl.edu	37	12	27933812	27933812	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:27933812G>C	ENST00000381271.2	+	1	860	c.549G>C	c.(547-549)caG>caC	p.Q183H	RP11-860B13.1_ENST00000545904.1_RNA	NM_020782.1	NP_065833.1	Q9P2K6	KLH42_HUMAN	kelch-like family member 42	183					mitotic nuclear division (GO:0007067)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of microtubule-based process (GO:0032886)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											GCCTGAAGCAGAGGCTGAGGG	0.677																																																	0													29.0	32.0	31.0					12																	27933812		2203	4300	6503	SO:0001583	missense	57542			AB037761	CCDS31763.1	12p11.22	2013-04-24	2013-02-22	2013-01-30	ENSG00000087448	ENSG00000087448		"""Kelch-like"""	29252	protein-coding gene	gene with protein product			"""kelch domain containing 5"""	KLHDC5		19261606	Standard	NM_020782		Approved	KIAA1340, Ctb9	uc001rij.3	Q9P2K6	OTTHUMG00000169217	ENST00000381271.2:c.549G>C	12.37:g.27933812G>C	ENSP00000370671:p.Gln183His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2VPK1|Q8N334	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,superfamily_BTB/POZ_fold,smart_Kelch_1,pfscan_BTB/POZ-like	p.Q183H	ENST00000381271.2	37	c.549	CCDS31763.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.85|18.85	3.711068|3.711068	0.68730|0.68730	.|.	.|.	ENSG00000087448|ENSG00000087448	ENST00000543254|ENST00000381271	.|T	.|0.74526	.|-0.85	4.77|4.77	3.87|3.87	0.44632|0.44632	.|.	.|0.358280	.|0.29218	.|N	.|0.012790	T|T	0.69070|0.69070	0.3070|0.3070	N|N	0.19112|0.19112	0.55|0.55	0.37389|0.37389	D|D	0.912354|0.912354	.|P	.|0.50943	.|0.94	.|P	.|0.52710	.|0.707	T|T	0.73241|0.73241	-0.4045|-0.4045	5|10	.|0.42905	.|T	.|0.14	.|.	12.3438|12.3438	0.55109|0.55109	0.0815:0.0:0.9185:0.0|0.0815:0.0:0.9185:0.0	.|.	.|183	.|Q9P2K6	.|KLDC5_HUMAN	Q|H	5|183	.|ENSP00000370671:Q183H	.|ENSP00000370671:Q183H	E|Q	+|+	1|3	0|2	KLHDC5|KLHDC5	27825079|27825079	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.690000|3.690000	0.54713|0.54713	1.225000|1.225000	0.43566|0.43566	0.591000|0.591000	0.81541|0.81541	GAG|CAG	KLHDC5	-	NULL		0.677	KLHL42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC5	HGNC	protein_coding	OTTHUMT00000402904.1	G	NM_020782		27933812	+1	no_errors	ENST00000381271	ensembl	human	known	70_37	missense	SNP	1.000	C
KLHDC9	126823	genome.wustl.edu	37	1	161069237	161069237	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:161069237G>A	ENST00000368011.4	+	2	771	c.629G>A	c.(628-630)gGa>gAa	p.G210E	KLHDC9_ENST00000392192.2_Missense_Mutation_p.G210E|PFDN2_ENST00000468311.1_5'Flank|KLHDC9_ENST00000490724.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	210										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TTGCTCTTTGGAGGTTGCAAC	0.512																																																	0													98.0	97.0	98.0					1																	161069237		2203	4300	6503	SO:0001583	missense	126823			BC022077	CCDS30919.1, CCDS41425.1	1q23.3	2008-02-05			ENSG00000162755	ENSG00000162755			28489	protein-coding gene	gene with protein product	"""kelch/ankyrin repeat containing cyclin A1 interacting protein"""					15159402	Standard	NM_152366		Approved	KARCA1	uc001fxr.3	Q8NEP7	OTTHUMG00000031479	ENST00000368011.4:c.629G>A	1.37:g.161069237G>A	ENSP00000356990:p.Gly210Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SY56|Q6NXT9|Q6PKN4|Q8N5E1|Q8NA16	Missense_Mutation	SNP	superfamily_Gal_Oxase/kelch_b-propeller	p.G210E	ENST00000368011.4	37	c.629	CCDS30919.1	1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.131062	0.56828	.	.	ENSG00000162755	ENST00000368011;ENST00000392192	D;D	0.90197	-2.63;-1.85	4.47	4.47	0.54385	Galactose oxidase/kelch, beta-propeller (1);Kelch-type beta propeller (1);	0.000000	0.64402	D	0.000019	D	0.93949	0.8063	M	0.73598	2.24	0.41518	D	0.988382	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94668	0.7854	10	0.87932	D	0	-26.2099	14.7006	0.69154	0.0:0.0:1.0:0.0	.	210;210	Q8NEP7-2;Q8NEP7	.;KLDC9_HUMAN	E	210	ENSP00000356990:G210E;ENSP00000376030:G210E	ENSP00000356990:G210E	G	+	2	0	KLHDC9	159335861	1.000000	0.71417	0.999000	0.59377	0.495000	0.33615	5.151000	0.64875	2.317000	0.78254	0.655000	0.94253	GGA	KLHDC9	-	superfamily_Gal_Oxase/kelch_b-propeller		0.512	KLHDC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHDC9	HGNC	protein_coding	OTTHUMT00000077092.1	G	NM_152366		161069237	+1	no_errors	ENST00000368011	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHL1	57626	genome.wustl.edu	37	13	70535470	70535470	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:70535470G>A	ENST00000377844.4	-	3	1546	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F	KLHL1_ENST00000545028.1_Missense_Mutation_p.L70F	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	263	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		AGGTCCCAGAGAGCATTGGGG	0.388																																																	0													156.0	138.0	144.0					13																	70535470		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.787C>T	13.37:g.70535470G>A	ENSP00000367075:p.Leu263Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L263F	ENST00000377844.4	37	c.787	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	G	19.17	3.775843	0.70107	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.64260	-0.09;-0.09	5.08	5.08	0.68730	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.53938	D	0.000047	T	0.71221	0.3314	L	0.45051	1.395	0.40306	D	0.978668	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.74140	-0.3761	10	0.87932	D	0	.	11.9459	0.52928	0.126:0.0:0.874:0.0	.	263;263	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	F	263;70	ENSP00000367075:L263F;ENSP00000439602:L70F	ENSP00000367075:L263F	L	-	1	0	KLHL1	69433471	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.630000	0.61297	2.531000	0.85337	0.563000	0.77884	CTC	KLHL1	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like		0.388	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	G	NM_020866		70535470	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	0.997	A
KLHL1	57626	genome.wustl.edu	37	13	70681805	70681805	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:70681805G>A	ENST00000377844.4	-	1	786	c.27C>T	c.(25-27)ttC>ttT	p.F9F	ATXN8OS_ENST00000424524.1_RNA|ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	9					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCTTCACATCGAAGTCTTTTC	0.627																																																	0													21.0	24.0	23.0					13																	70681805		2202	4296	6498	SO:0001819	synonymous_variant	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.27C>T	13.37:g.70681805G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Silent	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.F9	ENST00000377844.4	37	c.27	CCDS9445.1	13																																																																																			KLHL1	-	NULL		0.627	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	G	NM_020866		70681805	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	silent	SNP	0.999	A
KLHL11	55175	genome.wustl.edu	37	17	40010025	40010025	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40010025C>T	ENST00000319121.3	-	2	2154	c.2094G>A	c.(2092-2094)atG>atA	p.M698I	RP11-156E6.1_ENST00000560400.1_RNA	NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	698										NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GCACTCGCCTCATGTTCAGGG	0.498																																																	0													166.0	153.0	157.0					17																	40010025		2203	4300	6503	SO:0001583	missense	55175				CCDS11411.1	17q21	2013-01-30	2013-01-30		ENSG00000178502	ENSG00000178502		"""Kelch-like"", ""BTB/POZ domain containing"""	19008	protein-coding gene	gene with protein product			"""kelch-like 11 (Drosophila)"""				Standard	NM_018143		Approved	FLJ10572	uc002hyf.1	Q9NVR0	OTTHUMG00000133506	ENST00000319121.3:c.2094G>A	17.37:g.40010025C>T	ENSP00000314608:p.Met698Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_BACK,pfam_BTB_POZ,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.M698I	ENST00000319121.3	37	c.2094	CCDS11411.1	17	.	.	.	.	.	.	.	.	.	.	C	11.92	1.783817	0.31593	.	.	ENSG00000178502	ENST00000319121;ENST00000540254	T	0.69435	-0.4	5.69	5.69	0.88448	.	0.060110	0.64402	D	0.000002	T	0.47967	0.1474	N	0.08118	0	0.42849	D	0.994078	B	0.06786	0.001	B	0.04013	0.001	T	0.46610	-0.9179	10	0.62326	D	0.03	-6.546	13.8457	0.63466	0.0:0.9208:0.0:0.0792	.	698	Q9NVR0	KLH11_HUMAN	I	698;561	ENSP00000314608:M698I	ENSP00000314608:M698I	M	-	3	0	KLHL11	37263551	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	1.236000	0.32683	2.831000	0.97527	0.650000	0.86243	ATG	KLHL11	-	NULL		0.498	KLHL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL11	HGNC	protein_coding	OTTHUMT00000257464.2	C	NM_018143		40010025	-1	no_errors	ENST00000319121	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHL2	11275	genome.wustl.edu	37	4	166231890	166231890	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:166231890G>C	ENST00000226725.6	+	10	1484	c.1225G>C	c.(1225-1227)Gat>Cat	p.D409H	KLHL2_ENST00000506761.1_Missense_Mutation_p.D243H|KLHL2_ENST00000421009.2_Missense_Mutation_p.D312H|KLHL2_ENST00000538127.1_Missense_Mutation_p.D321H|KLHL2_ENST00000509028.1_3'UTR|KLHL2_ENST00000514860.1_Missense_Mutation_p.D413H	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	409					protein ubiquitination (GO:0016567)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)	actin binding (GO:0003779)			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GGGAGGCTTTGATGGGAGTAC	0.418																																																	0													197.0	204.0	202.0					4																	166231890		2203	4300	6503	SO:0001583	missense	11275			AF059569	CCDS34094.1, CCDS54815.1, CCDS54816.1	4q21.2	2013-01-30	2013-01-30		ENSG00000109466	ENSG00000109466		"""Kelch-like"", ""BTB/POZ domain containing"""	6353	protein-coding gene	gene with protein product	"""mayven"""	605774	"""kelch (Drosophila)-like 2 (Mayven)"", ""kelch-like 2, Mayven (Drosophila)"""			10397770, 16035103	Standard	NM_007246		Approved	MAV	uc011cjm.2	O95198	OTTHUMG00000161294	ENST00000226725.6:c.1225G>C	4.37:g.166231890G>C	ENSP00000226725:p.Asp409His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCM7|B2RD18|B4DFH7|F5H6M3|Q8N484|Q8TBH5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D409H	ENST00000226725.6	37	c.1225	CCDS34094.1	4	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277669	0.80692	.	.	ENSG00000109466	ENST00000226725;ENST00000514860;ENST00000538127;ENST00000421009;ENST00000506761	T;T;T;T;T	0.80566	-1.39;-1.39;-1.39;-1.39;-1.39	5.81	5.81	0.92471	Galactose oxidase, beta-propeller (1);	0.091794	0.64402	D	0.000001	D	0.92143	0.7509	M	0.90145	3.09	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.994;0.994;0.997	D	0.92832	0.6281	10	0.72032	D	0.01	.	20.0793	0.97766	0.0:0.0:1.0:0.0	.	413;409;409	B4DFH7;B2RD18;O95198	.;.;KLHL2_HUMAN	H	409;413;321;312;243	ENSP00000226725:D409H;ENSP00000424198:D413H;ENSP00000437526:D321H;ENSP00000408974:D312H;ENSP00000424108:D243H	ENSP00000226725:D409H	D	+	1	0	KLHL2	166451340	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	6.764000	0.74960	2.735000	0.93741	0.650000	0.86243	GAT	KLHL2	-	pfam_Kelch_1,smart_Kelch_1,pirsf_Kelch-like_gigaxonin		0.418	KLHL2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLHL2	HGNC	protein_coding	OTTHUMT00000364439.1	G			166231890	+1	no_errors	ENST00000226725	ensembl	human	known	70_37	missense	SNP	1.000	C
KLHL23	151230	genome.wustl.edu	37	2	170592188	170592188	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:170592188C>T	ENST00000392647.2	+	2	908	c.664C>T	c.(664-666)Cta>Tta	p.L222L	KLHL23_ENST00000272797.4_Silent_p.L222L|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	222	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						CCTCTATAATCTACTGAGCTA	0.393																																																	0													48.0	51.0	50.0					2																	170592188		2203	4300	6503	SO:0001819	synonymous_variant	151230			BC010437	CCDS2236.1	2q31.1	2013-01-30	2013-01-30		ENSG00000213160	ENSG00000213160		"""Kelch-like"", ""BTB/POZ domain containing"""	27506	protein-coding gene	gene with protein product			"""kelch-like 23 (Drosophila)"""				Standard	NM_144711		Approved	MGC2610, FLJ37812, MGC22679	uc002ufi.2	Q8NBE8	OTTHUMG00000132213	ENST00000392647.2:c.664C>T	2.37:g.170592188C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N9B9|Q96FT8	Silent	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L222	ENST00000392647.2	37	c.664	CCDS2236.1	2																																																																																			KLHL23	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.393	KLHL23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL23	HGNC	protein_coding	OTTHUMT00000255271.2	C	NM_144711		170592188	+1	no_errors	ENST00000272797	ensembl	human	known	70_37	silent	SNP	1.000	T
KLHL28	54813	genome.wustl.edu	37	14	45414681	45414681	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:45414681C>T	ENST00000396128.4	-	2	570	c.451G>A	c.(451-453)Gac>Aac	p.D151N	KLHL28_ENST00000355081.2_Missense_Mutation_p.D165N	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	151										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAATAAAGGTCACGGCAACCA	0.378																																																	0													65.0	65.0	65.0					14																	45414681		2203	4300	6503	SO:0001583	missense	54813			AK000088	CCDS9680.1	14q21.1	2013-02-22	2013-02-22	2007-01-09	ENSG00000179454	ENSG00000179454		"""Kelch-like"", ""BTB/POZ domain containing"""	19741	protein-coding gene	gene with protein product			"""BTB (POZ) domain containing 5"", ""kelch-like 28 (Drosophila)"""	BTBD5			Standard	NM_017658		Approved	FLJ20081	uc001wvr.3	Q9NXS3	OTTHUMG00000140263	ENST00000396128.4:c.451G>A	14.37:g.45414681C>T	ENSP00000379434:p.Asp151Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAL5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.D151N	ENST00000396128.4	37	c.451	CCDS9680.1	14	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780114	0.70222	.	.	ENSG00000179454	ENST00000396128;ENST00000355081;ENST00000556500	T;T;T	0.76316	-0.42;-0.42;-1.01	5.7	5.7	0.88788	BTB/Kelch-associated (2);	0.039561	0.85682	D	0.000000	T	0.77177	0.4092	L	0.53617	1.68	0.58432	D	0.999994	B;P	0.38711	0.053;0.643	B;B	0.38378	0.059;0.272	T	0.79548	-0.1758	10	0.87932	D	0	.	19.4198	0.94716	0.0:1.0:0.0:0.0	.	151;151	Q9NXS3-2;Q9NXS3	.;KLH28_HUMAN	N	151;165;151	ENSP00000379434:D151N;ENSP00000347193:D165N;ENSP00000452061:D151N	ENSP00000347193:D165N	D	-	1	0	KLHL28	44484431	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.631000	0.67812	2.696000	0.92011	0.655000	0.94253	GAC	KLHL28	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.378	KLHL28-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL28	HGNC	protein_coding	OTTHUMT00000276790.3	C			45414681	-1	no_errors	ENST00000396128	ensembl	human	known	70_37	missense	SNP	1.000	T
KLHL36	79786	genome.wustl.edu	37	16	84690989	84690989	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:84690989G>C	ENST00000564996.1	+	3	717	c.576G>C	c.(574-576)aaG>aaC	p.K192N	KLHL36_ENST00000258157.5_Missense_Mutation_p.K192N	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	192	BACK.				protein ubiquitination (GO:0016567)					endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CCATGCAGAAGCTGTGTGTCT	0.627																																																	0													48.0	39.0	42.0					16																	84690989		2199	4300	6499	SO:0001583	missense	79786			AK022605	CCDS10948.1	16q24.1	2013-02-22	2013-02-22	2008-07-07	ENSG00000135686	ENSG00000135686		"""Kelch-like"", ""BTB/POZ domain containing"""	17844	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 44"", ""kelch-like 36 (Drosophila)"""	C16orf44			Standard	NM_024731		Approved	FLJ12543	uc002fig.3	Q8N4N3	OTTHUMG00000137642	ENST00000564996.1:c.576G>C	16.37:g.84690989G>C	ENSP00000456743:p.Lys192Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5G6|Q9H9U6	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.K192N	ENST00000564996.1	37	c.576	CCDS10948.1	16	.	.	.	.	.	.	.	.	.	.	G	17.71	3.456576	0.63401	.	.	ENSG00000135686	ENST00000325279;ENST00000258157	T	0.69561	-0.41	5.42	3.44	0.39384	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	T	0.77054	0.4074	M	0.62016	1.91	0.58432	D	0.999999	D;D	0.76494	0.999;0.987	D;D	0.74023	0.982;0.91	T	0.78841	-0.2045	10	0.72032	D	0.01	.	11.5266	0.50584	0.1479:0.0:0.8521:0.0	.	192;192	Q8N4N3-2;Q8N4N3	.;KLH36_HUMAN	N	192	ENSP00000258157:K192N	ENSP00000258157:K192N	K	+	3	2	KLHL36	83248490	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.988000	0.56951	1.264000	0.44198	0.563000	0.77884	AAG	KLHL36	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.627	KLHL36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL36	HGNC	protein_coding	OTTHUMT00000269084.2	G			84690989	+1	no_errors	ENST00000564996	ensembl	human	known	70_37	missense	SNP	1.000	C
KLHL4	56062	genome.wustl.edu	37	X	86772994	86772994	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:86772994G>A	ENST00000373119.4	+	1	243	c.98G>A	c.(97-99)gGa>gAa	p.G33E	KLHL4_ENST00000373114.4_Missense_Mutation_p.G33E	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	33						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ACCAACACTGGAAGCTGTCTT	0.498																																																	0													98.0	87.0	91.0					X																	86772994		2203	4300	6503	SO:0001583	missense	56062			AF284765	CCDS14456.1, CCDS14457.1	Xq21.3	2013-01-30	2013-01-30		ENSG00000102271	ENSG00000102271		"""Kelch-like"", ""BTB/POZ domain containing"""	6355	protein-coding gene	gene with protein product		300348	"""kelch (Drosophila)-like 4"", ""kelch-like 4 (Drosophila)"""			11401425	Standard	NM_019117		Approved	KIAA1687, DKELCHL, KHL4	uc004efa.2	Q9C0H6	OTTHUMG00000021946	ENST00000373119.4:c.98G>A	X.37:g.86772994G>A	ENSP00000362211:p.Gly33Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTW2|Q9Y3J5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.G33E	ENST00000373119.4	37	c.98	CCDS14457.1	X	.	.	.	.	.	.	.	.	.	.	G	17.35	3.367413	0.61513	.	.	ENSG00000102271	ENST00000373119;ENST00000373114	T;T	0.79033	-1.23;-1.2	5.05	3.27	0.37495	.	1.519690	0.04232	N	0.335440	D	0.85017	0.5601	M	0.71581	2.175	0.53005	D	0.999962	D;P	0.55605	0.972;0.933	P;P	0.55871	0.748;0.786	T	0.70521	-0.4849	10	0.72032	D	0.01	.	8.4094	0.32634	0.0825:0.0:0.7639:0.1535	.	33;33	Q9C0H6;Q9C0H6-2	KLHL4_HUMAN;.	E	33	ENSP00000362211:G33E;ENSP00000362206:G33E	ENSP00000362206:G33E	G	+	2	0	KLHL4	86659650	1.000000	0.71417	0.996000	0.52242	0.843000	0.47879	6.863000	0.75489	0.516000	0.28340	-0.371000	0.07208	GGA	KLHL4	-	NULL		0.498	KLHL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL4	HGNC	protein_coding	OTTHUMT00000057413.1	G			86772994	+1	no_errors	ENST00000373114	ensembl	human	known	70_37	missense	SNP	1.000	A
KLHL9	55958	genome.wustl.edu	37	9	21334600	21334600	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:21334600C>G	ENST00000359039.4	-	1	779	c.259G>C	c.(259-261)Gaa>Caa	p.E87Q	KLHL9_ENST00000537938.1_Missense_Mutation_p.E19Q			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	87	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAATCTTGTTCTTTCATTCCA	0.388																																																	0													148.0	135.0	139.0					9																	21334600		2203	4300	6503	SO:0001583	missense	55958			AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.259G>C	9.37:g.21334600C>G	ENSP00000351933:p.Glu87Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCQ2	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E87Q	ENST00000359039.4	37	c.259	CCDS6503.1	9	.	.	.	.	.	.	.	.	.	.	C	19.94	3.920598	0.73213	.	.	ENSG00000198642	ENST00000359039;ENST00000537938	T;T	0.75589	-0.95;-0.95	5.49	5.49	0.81192	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.000000	0.85682	D	0.000000	D	0.89217	0.6652	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91114	0.4924	10	0.87932	D	0	.	17.2561	0.87057	0.0:1.0:0.0:0.0	.	87	Q9P2J3	KLHL9_HUMAN	Q	87;19	ENSP00000351933:E87Q;ENSP00000437733:E19Q	ENSP00000351933:E87Q	E	-	1	0	KLHL9	21324600	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.739000	0.84976	2.752000	0.94435	0.655000	0.94253	GAA	KLHL9	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like		0.388	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL9	HGNC	protein_coding	OTTHUMT00000051898.2	C	NM_018847		21334600	-1	no_errors	ENST00000359039	ensembl	human	known	70_37	missense	SNP	1.000	G
KPNA2	3838	genome.wustl.edu	37	17	66039098	66039098	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:66039098G>C	ENST00000537025.2	+	6	1269	c.649G>C	c.(649-651)Gat>Cat	p.D217H	KPNA2_ENST00000330459.3_Missense_Mutation_p.D217H			P52292	IMA1_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	217	NLS binding site (major). {ECO:0000250}.				cytokine-mediated signaling pathway (GO:0019221)|DNA metabolic process (GO:0006259)|NLS-bearing protein import into nucleus (GO:0006607)|regulation of DNA recombination (GO:0000018)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	histone deacetylase binding (GO:0042826)|nuclear localization sequence binding (GO:0008139)|poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGCAGTTCCTGATATGTCATC	0.408																																																	0													230.0	221.0	224.0					17																	66039098		2203	4300	6503	SO:0001583	missense	3838			U09559	CCDS32713.1	17q24.2	2013-02-14						"""Importins"", ""Armadillo repeat containing"""	6395	protein-coding gene	gene with protein product		600685		RCH1		8016130, 7754385	Standard	NM_002266		Approved	SRP1alpha, IPOA1, QIP2	uc002jgk.3	P52292		ENST00000537025.2:c.649G>C	17.37:g.66039098G>C	ENSP00000438483:p.Asp217His	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EJD6|Q53YE3|Q9BRU5	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.D217H	ENST00000537025.2	37	c.649	CCDS32713.1	17	.	.	.	.	.	.	.	.	.	.	G	9.346	1.064379	0.20067	.	.	ENSG00000182481	ENST00000330459;ENST00000537025	T;T	0.32753	1.44;1.44	5.07	4.1	0.47936	Armadillo-like helical (1);Armadillo-type fold (1);	0.057977	0.64402	U	0.000003	T	0.37839	0.1018	N	0.19112	0.55	0.80722	D	1	D	0.76494	0.999	D	0.70487	0.969	T	0.15350	-1.0440	10	0.35671	T	0.21	.	13.9121	0.63873	0.0741:0.0:0.9259:0.0	.	217	P52292	IMA2_HUMAN	H	217	ENSP00000332455:D217H;ENSP00000438483:D217H	ENSP00000332455:D217H	D	+	1	0	KPNA2	63469560	1.000000	0.71417	1.000000	0.80357	0.297000	0.27493	6.177000	0.71961	1.257000	0.44085	0.557000	0.71058	GAT	KPNA2	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.408	KPNA2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	KPNA2	HGNC	protein_coding	OTTHUMT00000448111.1	G	NM_002266		66039098	+1	no_errors	ENST00000330459	ensembl	human	known	70_37	missense	SNP	1.000	C
KPNA3	3839	genome.wustl.edu	37	13	50285123	50285123	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:50285123C>G	ENST00000261667.3	-	11	1221	c.807G>C	c.(805-807)ttG>ttC	p.L269F		NM_002267.3	NP_002258.2	O00505	IMA4_HUMAN	karyopherin alpha 3 (importin alpha 4)	269					cytokine-mediated signaling pathway (GO:0019221)|NLS-bearing protein import into nucleus (GO:0006607)|protein complex assembly (GO:0006461)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nuclear localization sequence binding (GO:0008139)|protein transporter activity (GO:0008565)			cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(4)	21		Lung NSC(96;2.46e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.42e-09)		CTCCATCTGTCAAGTATGACA	0.383																																																	0													75.0	66.0	69.0					13																	50285123		2203	4300	6503	SO:0001583	missense	3839			D89618	CCDS9421.1	13q14.3	2013-02-14			ENSG00000102753	ENSG00000102753		"""Importins"", ""Armadillo repeat containing"""	6396	protein-coding gene	gene with protein product		601892				9154134, 9435235	Standard	NM_002267		Approved	SRP1gamma, SRP4, hSRP1, IPOA4	uc001vdj.2	O00505	OTTHUMG00000016922	ENST00000261667.3:c.807G>C	13.37:g.50285123C>G	ENSP00000261667:p.Leu269Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O00191|O43195|Q5JVM9|Q96AA7	Missense_Mutation	SNP	pfam_Armadillo,pfam_Importin-a_IBB,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo,pfscan_Importin-a_IBB	p.L269F	ENST00000261667.3	37	c.807	CCDS9421.1	13	.	.	.	.	.	.	.	.	.	.	C	22.1	4.245410	0.80024	.	.	ENSG00000102753	ENST00000261667	D	0.82893	-1.66	5.84	4.88	0.63580	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.91794	0.7404	H	0.95712	3.71	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.91634	0.5321	10	0.87932	D	0	-5.3644	3.8544	0.08968	0.0:0.6756:0.0:0.3244	.	269	O00505	IMA3_HUMAN	F	269	ENSP00000261667:L269F	ENSP00000261667:L269F	L	-	3	2	KPNA3	49183124	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.674000	0.37544	2.763000	0.94921	0.557000	0.71058	TTG	KPNA3	-	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo		0.383	KPNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KPNA3	HGNC	protein_coding	OTTHUMT00000044939.2	C	NM_002267		50285123	-1	no_errors	ENST00000261667	ensembl	human	known	70_37	missense	SNP	1.000	G
KRT10	3858	genome.wustl.edu	37	17	38978671	38978671	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:38978671G>C	ENST00000269576.5	-	1	176	c.167C>G	c.(166-168)tCt>tGt	p.S56C	TMEM99_ENST00000301665.3_Intron|TMEM99_ENST00000496847.1_Intron	NM_000421.3	NP_000412	P13645	K1C10_HUMAN	keratin 10	56	Gly-rich.|Head.				cellular response to calcium ion (GO:0071277)|keratinocyte differentiation (GO:0030216)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of epidermis (GO:0030280)			NS(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	11		Breast(137;0.000301)				ACGGCTAAAAGAGCCACCACT	0.552																																																	0													71.0	78.0	75.0					17																	38978671		2203	4300	6503	SO:0001583	missense	3858			J04029	CCDS11377.1	17q21.2	2013-06-20	2008-08-01		ENSG00000186395	ENSG00000186395		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6413	protein-coding gene	gene with protein product	"""cytokeratin 10"", ""epidermolytic hyperkeratosis"""	148080	"""keratosis palmaris et plantaris"""	KPP		2461420, 16831889	Standard	NM_000421		Approved	K10, CK10	uc002hvi.3	P13645	OTTHUMG00000133368	ENST00000269576.5:c.167C>G	17.37:g.38978671G>C	ENSP00000269576:p.Ser56Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14664|Q8N175	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.S56C	ENST00000269576.5	37	c.167	CCDS11377.1	17	.	.	.	.	.	.	.	.	.	.	G	12.55	1.970231	0.34754	.	.	ENSG00000186395	ENST00000269576	D	0.83163	-1.69	5.52	4.51	0.55191	.	0.000000	0.35805	N	0.002969	T	0.81399	0.4814	N	0.08118	0	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.84593	0.0668	10	0.56958	D	0.05	.	14.7891	0.69827	0.0:0.2705:0.7295:0.0	.	56	P13645	K1C10_HUMAN	C	56	ENSP00000269576:S56C	ENSP00000269576:S56C	S	-	2	0	KRT10	36232197	0.889000	0.30405	0.991000	0.47740	0.450000	0.32258	1.926000	0.40084	2.588000	0.87417	0.603000	0.83216	TCT	KRT10	-	NULL		0.552	KRT10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT10	HGNC	protein_coding	OTTHUMT00000257875.1	G	NM_000421		38978671	-1	no_errors	ENST00000269576	ensembl	human	known	70_37	missense	SNP	0.992	C
KRT6B	3854	genome.wustl.edu	37	12	52845379	52845379	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:52845379C>T	ENST00000252252.3	-	1	531	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	162	Head.				ectoderm development (GO:0007398)	extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural constituent of cytoskeleton (GO:0005200)	p.E162*(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCACGCTCCTCGGCCCGCACC	0.602																																																	1	Substitution - Nonsense(1)	lung(1)											53.0	71.0	65.0					12																	52845379		2203	4296	6499	SO:0001583	missense	3854			BC034535	CCDS8828.1	12q13.13	2013-01-16	2004-08-11		ENSG00000185479	ENSG00000185479		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6444	protein-coding gene	gene with protein product		148042	"""keratin-like 1 (a type II keratin sequence)"""	KRTL1		1713141, 16831889	Standard	NM_005555		Approved		uc001sak.3	P04259	OTTHUMG00000169593	ENST00000252252.3:c.484G>A	12.37:g.52845379C>T	ENSP00000252252:p.Glu162Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P48669	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.E162K	ENST00000252252.3	37	c.484	CCDS8828.1	12	.	.	.	.	.	.	.	.	.	.	C	15.11	2.734690	0.48939	.	.	ENSG00000185479	ENST00000252252;ENST00000544607	D	0.88509	-2.39	3.28	2.39	0.29439	Filament (1);	0.000000	0.64402	D	0.000010	D	0.90003	0.6879	M	0.86420	2.815	0.42982	D	0.994465	P	0.51933	0.949	P	0.44732	0.459	D	0.90652	0.4583	10	0.87932	D	0	.	11.1408	0.48402	0.0:0.9063:0.0:0.0937	.	162	P04259	K2C6B_HUMAN	K	162	ENSP00000252252:E162K	ENSP00000252252:E162K	E	-	1	0	KRT6B	51131646	0.923000	0.31300	0.754000	0.31244	0.220000	0.24768	1.572000	0.36461	0.973000	0.38340	0.298000	0.19748	GAG	KRT6B	-	pfam_F		0.602	KRT6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT6B	HGNC	protein_coding	OTTHUMT00000404969.1	C	NM_005555		52845379	-1	no_errors	ENST00000252252	ensembl	human	known	70_37	missense	SNP	0.985	T
KRT79	338785	genome.wustl.edu	37	12	53216101	53216101	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:53216101G>C	ENST00000330553.5	-	8	1437					NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	enzyme binding (GO:0019899)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCAGGGGTGGAGCAGGAAGT	0.537																																																	0													65.0	58.0	61.0					12																	53216101		2203	4300	6503	SO:0001627	intron_variant	338785			AJ564105	CCDS8839.1	12q13.13	2014-02-12	2007-07-03		ENSG00000185640	ENSG00000185640		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28930	protein-coding gene	gene with protein product	"""keratin 6-like"""	611160				11683385	Standard	NM_175834		Approved	K6L, KRT6L	uc001sbb.3	Q5XKE5	OTTHUMG00000169878	ENST00000330553.5:c.1402+27C>G	12.37:g.53216101G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P465|Q7Z793	Missense_Mutation	SNP	pfam_F	p.S63C	ENST00000330553.5	37	c.188	CCDS8839.1	12	.	.	.	.	.	.	.	.	.	.	G	15.05	2.717034	0.48622	.	.	ENSG00000185640	ENST00000549255	D	0.91521	-2.86	4.21	3.28	0.37604	.	.	.	.	.	D	0.88142	0.6357	.	.	.	0.18873	N	0.999987	.	.	.	.	.	.	T	0.79871	-0.1620	6	0.46703	T	0.11	.	6.8566	0.24044	0.1358:0.0:0.8642:0.0	.	.	.	.	C	63	ENSP00000449159:S63C	ENSP00000449159:S63C	S	-	2	0	KRT79	51502368	0.000000	0.05858	0.006000	0.13384	0.344000	0.29017	0.299000	0.19138	1.279000	0.44446	0.655000	0.94253	TCC	KRT79	-	NULL		0.537	KRT79-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT79	HGNC	protein_coding	OTTHUMT00000406376.1	G	NM_175834		53216101	-1	no_errors	ENST00000549255	ensembl	human	putative	70_37	missense	SNP	0.006	C
KRTAP10-11	386678	genome.wustl.edu	37	21	46066445	46066445	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:46066445G>C	ENST00000334670.8	+	1	115	c.70G>C	c.(70-72)Gag>Cag	p.E24Q	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60412	KR10B_HUMAN	keratin associated protein 10-11	24						keratin filament (GO:0045095)				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CGACTGCCCAGAGAGCTGCTG	0.701																																																	0													42.0	48.0	46.0					21																	46066445		2178	4268	6446	SO:0001583	missense	386678			AB076359	CCDS42962.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000243489	ENSG00000243489		"""Keratin associated proteins"""	20528	protein-coding gene	gene with protein product			"""keratin associated protein 10-11"""	KRTAP18-11			Standard	NM_198692		Approved	KRTAP18.11, KAP18.11, KAP10.11	uc002zfr.4	P60412	OTTHUMG00000057626	ENST00000334670.8:c.70G>C	21.37:g.46066445G>C	ENSP00000334197:p.Glu24Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRF9	Missense_Mutation	SNP	NULL	p.E24Q	ENST00000334670.8	37	c.70	CCDS42962.1	21	.	.	.	.	.	.	.	.	.	.	g	12.05	1.821081	0.32237	.	.	ENSG00000243489	ENST00000334670	T	0.10099	2.91	3.83	3.83	0.44106	.	.	.	.	.	T	0.22704	0.0548	L	0.48642	1.525	0.30245	N	0.794633	D	0.69078	0.997	P	0.60682	0.878	T	0.02885	-1.1098	9	0.59425	D	0.04	.	13.2262	0.59916	0.0:0.0:1.0:0.0	.	24	P60412	KR10B_HUMAN	Q	24	ENSP00000334197:E24Q	ENSP00000334197:E24Q	E	+	1	0	KRTAP10-11	44890873	1.000000	0.71417	1.000000	0.80357	0.103000	0.19146	4.455000	0.60075	1.679000	0.50963	0.462000	0.41574	GAG	KRTAP10-11	-	NULL		0.701	KRTAP10-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP10-11	HGNC	protein_coding	OTTHUMT00000128029.1	G	NM_198692		46066445	+1	no_errors	ENST00000334670	ensembl	human	known	70_37	missense	SNP	1.000	C
KRTAP12-4	386684	genome.wustl.edu	37	21	46074281	46074281	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:46074281G>A	ENST00000391618.1	-	1	295	c.251C>T	c.(250-252)tCc>tTc	p.S84F	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	84	15 X 5 AA approximate repeats.					keratin filament (GO:0045095)				lung(4)|ovary(1)|prostate(1)	6						TGGGCAGAAGGAAGCCACACA	0.647																																																	0													39.0	49.0	45.0					21																	46074281		2177	4288	6465	SO:0001583	missense	386684			AB076360	CCDS42963.1	21q22.3	2006-03-13			ENSG00000212933	ENSG00000212933		"""Keratin associated proteins"""	20532	protein-coding gene	gene with protein product							Standard	NM_198698		Approved	KRTAP12.4	uc002zfs.1	P60329	OTTHUMG00000057633	ENST00000391618.1:c.251C>T	21.37:g.46074281G>A	ENSP00000375476:p.Ser84Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AF5	Missense_Mutation	SNP	NULL	p.S84F	ENST00000391618.1	37	c.251	CCDS42963.1	21	.	.	.	.	.	.	.	.	.	.	g	12.03	1.814808	0.32053	.	.	ENSG00000212933	ENST00000391618	T	0.02015	4.5	3.22	1.31	0.21738	.	.	.	.	.	T	0.03220	0.0094	L	0.52905	1.665	0.09310	N	1	D	0.53151	0.958	B	0.43950	0.437	T	0.44112	-0.9349	9	0.56958	D	0.05	.	5.8029	0.18424	0.2268:0.0:0.7732:0.0	.	84	P60329	KR124_HUMAN	F	84	ENSP00000375476:S84F	ENSP00000375476:S84F	S	-	2	0	KRTAP12-4	44898709	0.013000	0.17824	0.002000	0.10522	0.029000	0.11900	1.515000	0.35845	0.341000	0.23771	0.467000	0.42956	TCC	KRTAP12-4	-	NULL		0.647	KRTAP12-4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRTAP12-4	HGNC	protein_coding	OTTHUMT00000128036.1	G			46074281	-1	no_errors	ENST00000391618	ensembl	human	known	70_37	missense	SNP	0.002	A
KRTAP2-2	728279	genome.wustl.edu	37	17	39211182	39211182	+	Nonsense_Mutation	SNP	C	C	T	rs201126380		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:39211182C>T	ENST00000398477.1	-	1	300	c.282G>A	c.(280-282)tgG>tgA	p.W94*	KRTAP2-2_ENST00000542910.1_Nonsense_Mutation_p.W94*	NM_033032.2	NP_149021.2	Q9BYT5	KRA22_HUMAN	keratin associated protein 2-2	94	11 X 5 AA repeats of C-C-[CDPQRWG]- [APRS]-[CIPSTVD].					keratin filament (GO:0045095)											AGGTGGTGGCCCAGCAGCAGG	0.701																																																	0													1.0	2.0	2.0					17																	39211182		77	431	508	SO:0001587	stop_gained	728279			AJ302536	CCDS32648.1, CCDS54122.1	17q21.2	2013-06-25			ENSG00000214518	ENSG00000214518		"""Keratin associated proteins"""	18905	protein-coding gene	gene with protein product							Standard	NM_033032		Approved	KAP2.2	uc010cxj.3	Q9BYT5	OTTHUMG00000133593	ENST00000398477.1:c.282G>A	17.37:g.39211182C>T	ENSP00000381494:p.Trp94*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTN3|A8MXM4	Nonsense_Mutation	SNP	pfam_Keratin-assoc	p.W94*	ENST00000398477.1	37	c.282	CCDS54122.1	17	.	.	.	.	.	.	.	.	.	.	.	20.6	4.019518	0.75275	.	.	ENSG00000214518	ENST00000398477;ENST00000542910	.	.	.	5.45	5.45	0.79879	.	0.186828	0.26248	N	0.025475	.	.	.	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	14.721	0.69305	0.0:1.0:0.0:0.0	.	.	.	.	X	94	.	ENSP00000381494:W94X	W	-	3	0	KRTAP2-2	36464708	0.824000	0.29247	1.000000	0.80357	0.992000	0.81027	0.741000	0.26202	2.855000	0.98099	0.586000	0.80456	TGG	KRTAP2-2	-	NULL		0.701	KRTAP2-2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KRTAP2-2	HGNC	protein_coding	OTTHUMT00000257697.1	C			39211182	-1	no_errors	ENST00000542910	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KTN1	3895	genome.wustl.edu	37	14	56078923	56078923	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:56078923G>C	ENST00000395314.3	+	2	225	c.157G>C	c.(157-159)Gat>Cat	p.D53H	KTN1_ENST00000395309.3_Missense_Mutation_p.D53H|KTN1_ENST00000395311.1_Missense_Mutation_p.D53H|KTN1_ENST00000438792.2_Missense_Mutation_p.D53H|KTN1_ENST00000416613.1_Missense_Mutation_p.D53H|KTN1_ENST00000395308.1_Missense_Mutation_p.D53H|KTN1_ENST00000413890.2_Missense_Mutation_p.D53H	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	53					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						TACCaaaacagataaaaagaa	0.323			T	RET	papillary thryoid																																			Dom	yes		14	14q22.1	3895	kinectin 1 (kinesin receptor)		E	0													30.0	32.0	32.0					14																	56078923		2199	4297	6496	SO:0001583	missense	3895				CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.157G>C	14.37:g.56078923G>C	ENSP00000378725:p.Asp53His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	NULL	p.D53H	ENST00000395314.3	37	c.157	CCDS41957.1	14	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432802	0.83776	.	.	ENSG00000126777	ENST00000557267;ENST00000413890;ENST00000395309;ENST00000555498;ENST00000438792;ENST00000395314;ENST00000395308;ENST00000395311;ENST00000416613	D;D;D;D;D;D;D;D;D	0.99353	-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77;-5.77	5.49	5.49	0.81192	.	0.000000	0.53938	D	0.000048	D	0.99152	0.9707	L	0.47716	1.5	0.53688	D	0.999975	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.994;0.999;0.994;1.0	D	0.99918	1.1236	10	0.87932	D	0	-15.5797	19.358	0.94422	0.0:0.0:1.0:0.0	.	53;53;53;53	B4DZ88;Q86UP2-2;Q17RZ5;Q86UP2	.;.;.;KTN1_HUMAN	H	53	ENSP00000451641:D53H;ENSP00000394992:D53H;ENSP00000378720:D53H;ENSP00000451878:D53H;ENSP00000391964:D53H;ENSP00000378725:D53H;ENSP00000378719:D53H;ENSP00000378722:D53H;ENSP00000388807:D53H	ENSP00000378719:D53H	D	+	1	0	KTN1	55148676	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.820000	0.92003	2.565000	0.86533	0.591000	0.81541	GAT	KTN1	-	NULL		0.323	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KTN1	HGNC	protein_coding	OTTHUMT00000276912.2	G			56078923	+1	no_errors	ENST00000395309	ensembl	human	known	70_37	missense	SNP	1.000	C
KY	339855	genome.wustl.edu	37	3	134369692	134369692	+	Silent	SNP	C	C	G	rs573771058		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:134369692C>G	ENST00000423778.2	-	1	172	c.111G>C	c.(109-111)ccG>ccC	p.P37P	KY_ENST00000508956.1_Silent_p.P37P|KY_ENST00000503669.1_Silent_p.P37P	NM_178554.4	NP_848649.3	Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	37					muscle organ development (GO:0007517)|neuromuscular junction development (GO:0007528)	cytoskeleton (GO:0005856)|Z disc (GO:0030018)	peptidase activity (GO:0008233)			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						GCAGCGAGCTCGGGTTCGCCT	0.687													C|||	1	0.000199681	0.0	0.0	5008	,	,		12743	0.0		0.0	False		,,,				2504	0.001																0													34.0	37.0	36.0					3																	134369692		2014	4161	6175	SO:0001819	synonymous_variant	339855			AK090526	CCDS46920.1	3q22.1	2010-11-23			ENSG00000174611	ENSG00000174611			26576	protein-coding gene	gene with protein product		605739					Standard	NM_178554		Approved	FLJ33207	uc010hty.3	Q8NBH2	OTTHUMG00000159788	ENST00000423778.2:c.111G>C	3.37:g.134369692C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z1S4|Q6ZT15	Silent	SNP	pfam_Transglutaminase-like,smart_Transglutaminase-like	p.P37	ENST00000423778.2	37	c.111	CCDS46920.1	3																																																																																			KY	-	NULL		0.687	KY-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KY	HGNC	protein_coding	OTTHUMT00000357320.1	C	NM_178554		134369692	-1	no_errors	ENST00000423778	ensembl	human	known	70_37	silent	SNP	0.996	G
LAMC3	10319	genome.wustl.edu	37	9	133962880	133962880	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:133962880G>A	ENST00000361069.4	+	26	4381	c.4248G>A	c.(4246-4248)ctG>ctA	p.L1416L	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1416	Domain II and I.				astrocyte development (GO:0014002)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|extracellular matrix organization (GO:0030198)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	structural molecule activity (GO:0005198)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		AGGCCTTGCTGAGGGAGCGGA	0.597																																																	0													103.0	108.0	106.0					9																	133962880		2203	4300	6503	SO:0001819	synonymous_variant	10319			AF041835	CCDS6938.1	9q31-q34	2013-03-01			ENSG00000050555	ENSG00000050555		"""Laminins"""	6494	protein-coding gene	gene with protein product		604349				10225960	Standard	NM_006059		Approved	DKFZp434E202	uc004caa.1	Q9Y6N6	OTTHUMG00000020819	ENST00000361069.4:c.4248G>A	9.37:g.133962880G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1APX9|B1APY0|Q59H72	Silent	SNP	pfam_EGF_laminin,pfam_Laminin_N,pfam_Laminin_B_type_IV,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_B_subgr,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.L1416	ENST00000361069.4	37	c.4248	CCDS6938.1	9																																																																																			LAMC3	-	NULL		0.597	LAMC3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMC3	HGNC	protein_coding	OTTHUMT00000054717.3	G	NM_006059		133962880	+1	no_errors	ENST00000361069	ensembl	human	known	70_37	silent	SNP	0.990	A
LARGE	9215	genome.wustl.edu	37	22	33673147	33673147	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:33673147C>G	ENST00000354992.2	-	15	2543	c.1972G>C	c.(1972-1974)Gag>Cag	p.E658Q	LARGE_ENST00000397394.2_Missense_Mutation_p.E658Q|LARGE_ENST00000337431.2_Missense_Mutation_p.E606Q|LARGE_ENST00000402320.1_Missense_Mutation_p.E606Q|LARGE_ENST00000437602.2_Missense_Mutation_p.E609Q|LARGE_ENST00000452586.2_Missense_Mutation_p.E457Q	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	658					glycoprotein biosynthetic process (GO:0009101)|glycosphingolipid biosynthetic process (GO:0006688)|muscle cell cellular homeostasis (GO:0046716)|N-acetylglucosamine metabolic process (GO:0006044)|protein glycosylation (GO:0006486)	integral component of Golgi membrane (GO:0030173)	acetylglucosaminyltransferase activity (GO:0008375)|transferase activity, transferring glycosyl groups (GO:0016757)			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				ACATACGGCTCAAAATCGGCC	0.572																																					Colon(70;397 1175 4573 19089 45288)												0													89.0	77.0	81.0					22																	33673147		2203	4300	6503	SO:0001583	missense	9215			AJ007583	CCDS13912.1	22q12.3	2013-02-22			ENSG00000133424	ENSG00000133424		"""Glycosyltransferase family 8 domain containing"""	6511	protein-coding gene	gene with protein product		603590				9892679, 10591208, 12966029	Standard	NM_004737		Approved	KIAA0609	uc003ane.4	O95461	OTTHUMG00000150914	ENST00000354992.2:c.1972G>C	22.37:g.33673147C>G	ENSP00000347088:p.Glu658Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QXZ7|O60348|Q17R80|Q9UGD1|Q9UGE7|Q9UGG3|Q9UGZ8|Q9UH22	Missense_Mutation	SNP	pfam_Glyco_trans_8	p.E658Q	ENST00000354992.2	37	c.1972	CCDS13912.1	22	.	.	.	.	.	.	.	.	.	.	C	33	5.211568	0.95069	.	.	ENSG00000133424	ENST00000354992;ENST00000337431;ENST00000397394;ENST00000402320;ENST00000452586;ENST00000437602	T;T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68;0.68	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.79040	0.4379	H	0.94886	3.595	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;0.999;1.0;1.0	D	0.84576	0.0658	10	0.87932	D	0	-29.9883	19.7664	0.96346	0.0:1.0:0.0:0.0	.	609;457;606;658	B7Z2I9;E9PH73;O95461-2;O95461	.;.;.;LARGE_HUMAN	Q	658;606;658;606;457;609	ENSP00000347088:E658Q;ENSP00000336636:E606Q;ENSP00000380549:E658Q;ENSP00000385223:E606Q;ENSP00000407917:E457Q;ENSP00000388544:E609Q	ENSP00000336636:E606Q	E	-	1	0	LARGE	32003147	1.000000	0.71417	0.982000	0.44146	0.970000	0.65996	7.380000	0.79704	2.735000	0.93741	0.655000	0.94253	GAG	LARGE	-	NULL		0.572	LARGE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LARGE	HGNC	protein_coding	OTTHUMT00000320515.2	C	NM_133642		33673147	-1	no_errors	ENST00000354992	ensembl	human	known	70_37	missense	SNP	1.000	G
LAS1L	81887	genome.wustl.edu	37	X	64742159	64742159	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:64742159G>A	ENST00000374811.3	-	11	1489				LAS1L_ENST00000374807.5_Intron|LAS1L_ENST00000312391.8_Intron|LAS1L_ENST00000374804.5_Intron	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						ccatgtgctcgaggaagctag	0.567																																																	0																																										SO:0001627	intron_variant	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1448+1280C>T	X.37:g.64742159G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	RNA	SNP	-	NULL	ENST00000374811.3	37	NULL	CCDS14381.1	X																																																																																			LAS1L	-	-		0.567	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	G	NM_031206		64742159	-1	no_errors	ENST00000484069	ensembl	human	known	70_37	rna	SNP	0.736	A
LAS1L	81887	genome.wustl.edu	37	X	64742692	64742692	+	Intron	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:64742692G>T	ENST00000374811.3	-	11	1489				LAS1L_ENST00000374807.5_Intron|LAS1L_ENST00000312391.8_Intron|LAS1L_ENST00000374804.5_Intron	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)						rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						atgggttgctgagtgtagtgg	0.473																																																	0																																										SO:0001627	intron_variant	81887			BC014545	CCDS14381.1, CCDS55433.1, CCDS55434.1	Xq12	2008-02-05			ENSG00000001497	ENSG00000001497			25726	protein-coding gene	gene with protein product						12477932	Standard	NM_031206		Approved	FLJ12525	uc004dwa.2	Q9Y4W2	OTTHUMG00000021720	ENST00000374811.3:c.1448+747C>A	X.37:g.64742692G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A9X410|Q5JXQ0|Q8TEN5|Q9H9V5	RNA	SNP	-	NULL	ENST00000374811.3	37	NULL	CCDS14381.1	X																																																																																			LAS1L	-	-		0.473	LAS1L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAS1L	HGNC	protein_coding	OTTHUMT00000056974.1	G	NM_031206		64742692	-1	no_errors	ENST00000484069	ensembl	human	known	70_37	rna	SNP	0.047	T
LCA5	167691	genome.wustl.edu	37	6	80196912	80196912	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:80196912C>G	ENST00000392959.1	-	9	2514	c.1903G>C	c.(1903-1905)Gac>Cac	p.D635H	LCA5_ENST00000369846.4_Missense_Mutation_p.D635H	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	635					intraciliary transport (GO:0042073)|photoreceptor cell maintenance (GO:0045494)|protein transport (GO:0015031)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein complex binding (GO:0032403)			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TTTAGAGGGTCAATGTCTCCT	0.418																																																	0													139.0	143.0	142.0					6																	80196912		2203	4300	6503	SO:0001583	missense	167691				CCDS4990.1	6q14	2014-01-28			ENSG00000135338	ENSG00000135338			31923	protein-coding gene	gene with protein product	"""lebercilin"""	611408	"""chromosome 6 open reading frame 152"""	C6orf152		10631161, 17546029	Standard	NM_181714		Approved		uc003pix.3	Q86VQ0	OTTHUMG00000015080	ENST00000392959.1:c.1903G>C	6.37:g.80196912C>G	ENSP00000376686:p.Asp635His	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P542|Q9BWX7	Missense_Mutation	SNP	NULL	p.D635H	ENST00000392959.1	37	c.1903	CCDS4990.1	6	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354597	0.41700	.	.	ENSG00000135338	ENST00000369846;ENST00000392959	T;T	0.36878	1.23;1.23	5.38	5.38	0.77491	.	0.332670	0.29431	N	0.012174	T	0.44222	0.1283	L	0.56769	1.78	0.28957	N	0.890074	D	0.64830	0.994	P	0.60473	0.875	T	0.34428	-0.9829	10	0.54805	T	0.06	-6.8926	18.1251	0.89583	0.0:1.0:0.0:0.0	.	635	Q86VQ0	LCA5_HUMAN	H	635	ENSP00000358861:D635H;ENSP00000376686:D635H	ENSP00000358861:D635H	D	-	1	0	LCA5	80253631	0.248000	0.23930	0.215000	0.23724	0.196000	0.23810	3.068000	0.50018	2.504000	0.84457	0.573000	0.79308	GAC	LCA5	-	NULL		0.418	LCA5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LCA5	HGNC	protein_coding	OTTHUMT00000259269.1	C	NM_181714		80196912	-1	no_errors	ENST00000369846	ensembl	human	known	70_37	missense	SNP	0.532	G
LATS1	9113	genome.wustl.edu	37	6	149983239	149983239	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:149983239G>A	ENST00000543571.1	-	8	3566	c.3019C>T	c.(3019-3021)Cat>Tat	p.H1007Y	LATS1_ENST00000253339.5_Missense_Mutation_p.H1007Y	NM_004690.3	NP_004681.1			large tumor suppressor kinase 1											central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AAAAATGGATGAGCTTTTATT	0.388																																																	0													126.0	130.0	128.0					6																	149983239		2203	4300	6503	SO:0001583	missense	9113			AF104413	CCDS34551.1, CCDS59040.1	6q25.1	2013-04-25	2013-04-25		ENSG00000131023	ENSG00000131023			6514	protein-coding gene	gene with protein product		603473	"""LATS (large tumor suppressor, Drosophila) homolog 1"", ""LATS, large tumor suppressor, homolog 1 (Drosophila)"""			9988268, 15122335	Standard	NM_004690		Approved	WARTS	uc003qmu.2	O95835	OTTHUMG00000016437	ENST00000543571.1:c.3019C>T	6.37:g.149983239G>A	ENSP00000437550:p.His1007Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,pfam_UBA/transl_elong_EF1B_N,superfamily_Kinase-like_dom,superfamily_UBA-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom	p.H1007Y	ENST00000543571.1	37	c.3019	CCDS34551.1	6	.	.	.	.	.	.	.	.	.	.	G	21.5	4.152842	0.78001	.	.	ENSG00000131023	ENST00000543571;ENST00000253339	T;T	0.11930	2.73;2.73	5.45	5.45	0.79879	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000064	T	0.37839	0.1018	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.35895	-0.9770	9	.	.	.	.	19.2848	0.94066	0.0:0.0:1.0:0.0	.	1007	O95835	LATS1_HUMAN	Y	1007	ENSP00000437550:H1007Y;ENSP00000253339:H1007Y	.	H	-	1	0	LATS1	150024932	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.416000	0.97383	2.562000	0.86427	0.591000	0.81541	CAT	LATS1	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.388	LATS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LATS1	HGNC	protein_coding	OTTHUMT00000043923.4	G	NM_004690		149983239	-1	no_errors	ENST00000253339	ensembl	human	known	70_37	missense	SNP	1.000	A
LDB1	8861	genome.wustl.edu	37	10	103867963	103867963	+	Missense_Mutation	SNP	C	C	T	rs531176307		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:103867963C>T	ENST00000425280.1	-	11	1465	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	LDB1_ENST00000361198.5_Missense_Mutation_p.E339K|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	375					anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)	p.E339K(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		AAGCTGTCCTCGTCGTCAATG	0.617													C|||	1	0.000199681	0.0	0.0	5008	,	,		16271	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	large_intestine(1)											195.0	155.0	169.0					10																	103867963		2203	4300	6503	SO:0001583	missense	8861			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1123G>A	10.37:g.103867963C>T	ENSP00000392466:p.Glu375Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	NULL	p.E375K	ENST00000425280.1	37	c.1123	CCDS44472.1	10	.	.	.	.	.	.	.	.	.	.	C	32	5.126940	0.94429	.	.	ENSG00000198728	ENST00000361198;ENST00000425280	T;T	0.57907	0.37;0.37	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.49236	0.1545	M	0.64997	1.995	0.80722	D	1	D	0.61697	0.99	B	0.38616	0.277	T	0.50701	-0.8797	10	0.16896	T	0.51	5.1559	19.3761	0.94510	0.0:1.0:0.0:0.0	.	375	Q86U70	LDB1_HUMAN	K	339;375	ENSP00000354616:E339K;ENSP00000392466:E375K	ENSP00000354616:E339K	E	-	1	0	LDB1	103857953	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.683000	0.91414	0.455000	0.32223	GAG	LDB1	-	NULL		0.617	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	HGNC	protein_coding		C	NM_001113407		103867963	-1	no_errors	ENST00000425280	ensembl	human	known	70_37	missense	SNP	1.000	T
LDB1	8861	genome.wustl.edu	37	10	103868034	103868035	+	Missense_Mutation	DNP	CC	CC	TT			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:103868034_103868035CC>TT	ENST00000425280.1	-	11	1393_1394	c.1051_1052GG>AA	c.(1051-1053)GGg>AAg	p.G351K	LDB1_ENST00000361198.5_Missense_Mutation_p.G315K|LDB1_ENST00000490751.1_5'Flank	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	351	LIM-binding domain (LID). {ECO:0000250}.				anterior/posterior axis specification (GO:0009948)|cellular component assembly (GO:0022607)|cerebellar Purkinje cell differentiation (GO:0021702)|epithelial structure maintenance (GO:0010669)|gastrulation with mouth forming second (GO:0001702)|hair follicle development (GO:0001942)|head development (GO:0060322)|histone H3-K4 acetylation (GO:0043973)|multicellular organismal development (GO:0007275)|negative regulation of erythrocyte differentiation (GO:0045647)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron differentiation (GO:0030182)|positive regulation of cell adhesion (GO:0045785)|positive regulation of hemoglobin biosynthetic process (GO:0046985)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell maintenance (GO:0035019)|transcription from RNA polymerase II promoter (GO:0006366)|transcription, DNA-templated (GO:0006351)|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery (GO:0000972)|Wnt signaling pathway (GO:0016055)	nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|enhancer sequence-specific DNA binding (GO:0001158)|enzyme binding (GO:0019899)|LIM domain binding (GO:0030274)|protein homodimerization activity (GO:0042803)|RNA polymerase II activating transcription factor binding (GO:0001102)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTCCTCGTCCCCGAACTCCCCG	0.634																																																	0																																										SO:0001583	missense	8861			AF068652	CCDS7528.1, CCDS44472.1	10q24-q25	2008-08-01			ENSG00000198728	ENSG00000198728			6532	protein-coding gene	gene with protein product	"""carboxy terminal LIM domain protein 2"""	603451				9503020, 9799849	Standard	NM_003893		Approved	NLI, CLIM2	uc009xwz.3	Q86U70	OTTHUMG00000018950	ENST00000425280.1:c.1051_1052delinsTT	10.37:g.103868034_103868035delinsTT	ENSP00000392466:p.Gly351Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUC4|O75479|O96010|Q1EQX1|Q9UGM4	Missense_Mutation	SNP	NULL	p.G351E|p.G351R	ENST00000425280.1	37	c.1052|c.1051	CCDS44472.1	10																																																																																			LDB1	-	NULL		0.634	LDB1-201	KNOWN	basic|CCDS	protein_coding	LDB1	HGNC	protein_coding		C	NM_001113407		103868034|103868035	-1	no_errors	ENST00000425280	ensembl	human	known	70_37	missense	SNP	1.000	T
LEPRE1	64175	genome.wustl.edu	37	1	43212309	43212309	+	3'UTR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:43212309G>C	ENST00000296388.5	-	0	2321				LEPRE1_ENST00000397054.3_3'UTR|LEPRE1_ENST00000236040.4_3'UTR|LEPRE1_ENST00000462474.1_5'UTR			Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1						bone development (GO:0060348)|cell growth (GO:0016049)|chaperone-mediated protein folding (GO:0061077)|collagen fibril organization (GO:0030199)|collagen metabolic process (GO:0032963)|extracellular matrix organization (GO:0030198)|negative regulation of cell proliferation (GO:0008285)|negative regulation of post-translational protein modification (GO:1901874)|peptidyl-proline hydroxylation (GO:0019511)|protein folding (GO:0006457)|protein hydroxylation (GO:0018126)|protein stabilization (GO:0050821)|regulation of ossification (GO:0030278)|regulation of protein secretion (GO:0050708)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|macromolecular complex (GO:0032991)|membrane (GO:0016020)|nucleus (GO:0005634)|proteinaceous extracellular matrix (GO:0005578)	iron ion binding (GO:0005506)|L-ascorbic acid binding (GO:0031418)|procollagen-proline 3-dioxygenase activity (GO:0019797)|protein complex binding (GO:0032403)			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGCCAGCTCAGAGTGCAGAAG	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	64175			AK027648	CCDS472.2, CCDS53307.1, CCDS57986.1	1p34.1	2014-09-17			ENSG00000117385	ENSG00000117385			19316	protein-coding gene	gene with protein product	"""prolyl 3-hydroxylase 1"", ""growth suppressor 1"""	610339				10951563	Standard	NM_022356		Approved	GROS1, P3H1, LEPRECAN, MGC117314	uc001chx.4	Q32P28	OTTHUMG00000007525	ENST00000296388.5:c.*59C>G	1.37:g.43212309G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7KZR4|Q96BR8|Q96SK8|Q96SL5|Q96SN3|Q9H6K3|Q9HC86|Q9HC87	RNA	SNP	-	NULL	ENST00000296388.5	37	NULL	CCDS472.2	1																																																																																			LEPRE1	-	-		0.587	LEPRE1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LEPRE1	HGNC	protein_coding	OTTHUMT00000019790.2	G	NM_022356		43212309	-1	no_errors	ENST00000462474	ensembl	human	known	70_37	rna	SNP	0.001	C
LHFPL5	222662	genome.wustl.edu	37	6	35787460	35787460	+	Intron	DEL	T	T	-	rs5875523	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:35787460delT	ENST00000360215.1	+	3	1053				LHFPL5_ENST00000496656.1_3'UTR	NM_182548.3	NP_872354.1	Q8TAF8	TMHS_HUMAN	lipoma HMGIC fusion partner-like 5						auditory receptor cell stereocilium organization (GO:0060088)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|ion transport (GO:0006811)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)				endometrium(4)|large_intestine(4)|lung(7)|prostate(2)|skin(2)|urinary_tract(1)	20						TACCTGTGTCttttttttttt	0.522													|||unknown(HR)	2343	0.467851	0.5613	0.4308	5008	,	,		18433	0.3651		0.4384	False		,,,				2504	0.5041																0																																										SO:0001627	intron_variant	222662			BC028630	CCDS4812.1	6p21.31	2014-01-28				ENSG00000197753			21253	protein-coding gene	gene with protein product		609427	"""deafness, autosomal recessive 67"""	DFNB67		16459341	Standard	NM_182548		Approved	MGC33835, dJ510O8.8, Tmhs	uc003olg.1	Q8TAF8		ENST00000360215.1:c.657+220T>-	6.37:g.35787460delT		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX66	RNA	DEL	-	NULL	ENST00000360215.1	37	NULL	CCDS4812.1	6																																																																																			LHFPL5	-	-		0.522	LHFPL5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	LHFPL5	HGNC	protein_coding		T	NM_182548		35787460	+1	no_errors	ENST00000496656	ensembl	human	known	70_37	rna	DEL	0.022	-
LHX8	431707	genome.wustl.edu	37	1	75608863	75608863	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:75608863G>C	ENST00000294638.5	+	6	1114	c.450G>C	c.(448-450)cgG>cgC	p.R150R	LHX8_ENST00000356261.3_Silent_p.R140R	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	150	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				female gonad development (GO:0008585)|forebrain neuron development (GO:0021884)|learning or memory (GO:0007611)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	female germ cell nucleus (GO:0001674)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						ACTGGGTCCGGAGAGCCAAGG	0.463																																																	0													121.0	114.0	117.0					1																	75608863		2203	4299	6502	SO:0001819	synonymous_variant	431707			AB050476	CCDS30756.1, CCDS58008.1	1p31.1	2011-06-20			ENSG00000162624	ENSG00000162624		"""Homeoboxes / LIM class"""	28838	protein-coding gene	gene with protein product		604425				9598319	Standard	NM_001256114		Approved	Lhx7	uc031pmx.1	Q68G74	OTTHUMG00000009692	ENST00000294638.5:c.450G>C	1.37:g.75608863G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PGE3	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.R150	ENST00000294638.5	37	c.450	CCDS30756.1	1																																																																																			LHX8	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.463	LHX8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LHX8	HGNC	protein_coding	OTTHUMT00000026700.1	G	NM_001001933		75608863	+1	no_errors	ENST00000294638	ensembl	human	known	70_37	silent	SNP	1.000	C
LIMA1	51474	genome.wustl.edu	37	12	50575814	50575814	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:50575814G>C	ENST00000341247.4	-	10	1296	c.1147C>G	c.(1147-1149)Cag>Gag	p.Q383E	LIMA1_ENST00000552783.1_Missense_Mutation_p.Q224E|LIMA1_ENST00000552909.1_Missense_Mutation_p.Q222E|LIMA1_ENST00000394943.3_Missense_Mutation_p.Q384E|LIMA1_ENST00000552491.1_Missense_Mutation_p.Q80E|LIMA1_ENST00000547825.1_Missense_Mutation_p.Q81E|LIMA1_ENST00000552823.1_Missense_Mutation_p.Q223E	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	383					actin filament bundle assembly (GO:0051017)|negative regulation of actin filament depolymerization (GO:0030835)|ruffle organization (GO:0031529)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GCAGGTGCCTGAAACTTCTAG	0.483																																																	0													75.0	75.0	75.0					12																	50575814		2203	4300	6503	SO:0001583	missense	51474			AF198454	CCDS8802.1, CCDS44877.1, CCDS55826.1, CCDS58230.1	12q13.12	2006-04-12				ENSG00000050405			24636	protein-coding gene	gene with protein product	"""epithelial protein lost in neoplasm beta"""	608364				10806352, 10618726, 12566430	Standard	NM_016357		Approved	EPLIN	uc001rwk.4	Q9UHB6		ENST00000341247.4:c.1147C>G	12.37:g.50575814G>C	ENSP00000340184:p.Gln383Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB09|Q2TAN7|Q59FE8|Q9BVF2|Q9H8J1|Q9HBN5|Q9NX96|Q9NXC3|Q9NXU6|Q9P0H8|Q9UHB5	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.Q384E	ENST00000341247.4	37	c.1150	CCDS8802.1	12	.	.	.	.	.	.	.	.	.	.	G	22.7	4.328369	0.81690	.	.	ENSG00000050405	ENST00000552491;ENST00000547825;ENST00000552823;ENST00000394943;ENST00000341247;ENST00000552783;ENST00000552909;ENST00000420992	T;T;T;D;T;T;T	0.84516	-1.11;-1.11;-1.44;-1.86;-1.13;-1.45;-1.44	5.49	5.49	0.81192	Zinc finger, LIM-type (1);	0.258350	0.40818	N	0.001005	D	0.89908	0.6851	M	0.71581	2.175	0.51767	D	0.999939	D;P;P	0.62365	0.991;0.895;0.829	P;P;P	0.55011	0.766;0.573;0.481	D	0.88080	0.2806	10	0.33940	T	0.23	.	19.7347	0.96198	0.0:0.0:1.0:0.0	.	393;383;222	Q59FE8;Q9UHB6;F8VQE1	.;LIMA1_HUMAN;.	E	80;81;223;384;383;224;222;302	ENSP00000448463:Q80E;ENSP00000448706:Q81E;ENSP00000450266:Q223E;ENSP00000378400:Q384E;ENSP00000340184:Q383E;ENSP00000448779:Q224E;ENSP00000450087:Q222E	ENSP00000340184:Q383E	Q	-	1	0	LIMA1	48862081	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	7.585000	0.82584	2.746000	0.94184	0.655000	0.94253	CAG	LIMA1	-	NULL		0.483	LIMA1-003	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	LIMA1	HGNC	protein_coding	OTTHUMT00000406235.2	G	NM_016357		50575814	-1	no_errors	ENST00000394943	ensembl	human	known	70_37	missense	SNP	1.000	C
LINC00208	83655	genome.wustl.edu	37	8	11438347	11438347	+	lincRNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:11438347G>C	ENST00000304233.3	+	0	1646					NR_040035.1		Q96KT6	CH014_HUMAN	long intergenic non-protein coding RNA 208																		GAGACCCTGAGGTTTGCCTTT	0.517																																																	0																																												83655			AJ291678		8p23.1	2012-10-12	2011-08-11	2011-08-11	ENSG00000170983	ENSG00000170983		"""Long non-coding RNAs"""	15535	non-coding RNA	RNA, long non-coding			"""chromosome 8 open reading frame 14"", ""non-protein coding RNA 208"""	C8orf14, NCRNA00208			Standard	NR_040035		Approved		uc022arx.1	Q96KT6	OTTHUMG00000161738		8.37:g.11438347G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000304233.3	37	NULL		8																																																																																			LINC00208	-	-		0.517	LINC00208-001	KNOWN	basic	lincRNA	LINC00208	HGNC	lincRNA	OTTHUMT00000365946.2	G			11438347	+1	no_errors	ENST00000304233	ensembl	human	known	70_37	rna	SNP	0.000	C
LINC00467	84791	genome.wustl.edu	37	1	211599579	211599579	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:211599579G>C	ENST00000423222.1	+	0	447					NR_026761.2		Q9BRT7	CA097_HUMAN	long intergenic non-protein coding RNA 467																		CCAAGAAAAAGAGAAGGAAAA	0.299																																																	0																																												84791			BC005997		1q32.3	2014-03-04	2013-12-05	2013-12-05	ENSG00000153363	ENSG00000153363		"""Long non-coding RNAs"""	28227	non-coding RNA	RNA, long non-coding			"""chromosome 1 open reading frame 97"""	C1orf97		24586304	Standard	NR_026761		Approved	MGC14801	uc001hil.4	Q9BRT7	OTTHUMG00000036998		1.37:g.211599579G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000423222.1	37	NULL		1																																																																																			LINC00467	-	-		0.299	LINC00467-001	KNOWN	basic	processed_transcript	LINC00467	HGNC	processed_transcript	OTTHUMT00000089831.3	G	NR_026761		211599579	+1	no_errors	ENST00000423222	ensembl	human	known	70_37	rna	SNP	0.041	C
PDE10A	10846	genome.wustl.edu	37	6	166401262	166401262	+	5'Flank	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:166401262C>T	ENST00000535229.1	-	0	0				LINC00473_ENST00000584911.1_lincRNA			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A						blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TTGGGGCACTCTGGGGTGCGC	0.627																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0																																										SO:0001631	upstream_gene_variant	90632			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986		6.37:g.166401262C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	RNA	SNP	-	NULL	ENST00000535229.1	37	NULL		6																																																																																			LINC00473	-	-		0.627	PDE10A-004	KNOWN	mRNA_end_NF|basic	processed_transcript	LINC00473	HGNC	protein_coding	OTTHUMT00000470299.1	C			166401262	-1	no_errors	ENST00000444465	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00671	388387	genome.wustl.edu	37	17	41031767	41031767	+	lincRNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41031767C>G	ENST00000301683.3	-	0	441									long intergenic non-protein coding RNA 671																		TGGGCCACCTCTGCTCCACTC	0.657																																																	0													21.0	24.0	23.0					17																	41031767		692	1591	2283			388387			AK055784, BC122868, DC361857		17q21.31	2012-10-12			ENSG00000213373	ENSG00000213373		"""Long non-coding RNAs"""	44339	non-coding RNA	RNA, long non-coding							Standard	NR_027254		Approved		uc010whe.1		OTTHUMG00000132654		17.37:g.41031767C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000301683.3	37	NULL		17																																																																																			LINC00671	-	-		0.657	LINC00671-001	KNOWN	basic	lincRNA	LINC00671	HGNC	lincRNA	OTTHUMT00000255905.2	C	NR_027254		41031767	-1	no_errors	ENST00000301683	ensembl	human	known	70_37	rna	SNP	0.000	G
LINS	55180	genome.wustl.edu	37	15	101110081	101110081	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:101110081C>G	ENST00000314742.8	-	7	1858	c.1636G>C	c.(1636-1638)Gat>Cat	p.D546H	LINS_ENST00000559149.1_5'Flank	NM_001040616.2	NP_001035706	Q8NG48	LINES_HUMAN	lines homolog (Drosophila)	546										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(4)	21						TCAGTTGCATCAAAGTTATTG	0.348																																																	0													73.0	70.0	71.0					15																	101110081		2203	4300	6503	SO:0001583	missense	55180			AK095448	CCDS10385.1	15q26.3	2010-09-08	2010-09-08	2010-09-08	ENSG00000140471	ENSG00000140471			30922	protein-coding gene	gene with protein product		610350	"""lines homolog 1 (Drosophila)"""	LINS1		12119551, 8889548	Standard	NM_001040616		Approved	WINS1	uc002bwg.3	Q8NG48	OTTHUMG00000149865	ENST00000314742.8:c.1636G>C	15.37:g.101110081C>G	ENSP00000318423:p.Asp546His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96FW2|Q9NVQ3	Missense_Mutation	SNP	NULL	p.D546H	ENST00000314742.8	37	c.1636	CCDS10385.1	15	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893338	0.52121	.	.	ENSG00000140471	ENST00000314742	T	0.12255	2.7	5.65	3.76	0.43208	.	0.226724	0.38058	N	0.001834	T	0.14013	0.0339	M	0.67953	2.075	0.24198	N	0.995523	B	0.31599	0.33	B	0.28553	0.091	T	0.22347	-1.0219	10	0.62326	D	0.03	-5.2833	6.0493	0.19777	0.0:0.6473:0.1388:0.2138	.	546	Q8NG48	LINES_HUMAN	H	546	ENSP00000318423:D546H	ENSP00000318423:D546H	D	-	1	0	LINS	98927604	0.996000	0.38824	0.140000	0.22221	0.889000	0.51656	1.916000	0.39986	0.734000	0.32515	0.655000	0.94253	GAT	LINS	-	NULL		0.348	LINS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINS	HGNC	protein_coding	OTTHUMT00000313592.1	C	NM_018148		101110081	-1	no_errors	ENST00000314742	ensembl	human	known	70_37	missense	SNP	0.360	G
LMO7	4008	genome.wustl.edu	37	13	76395627	76395627	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:76395627C>G	ENST00000321797.8	+	12	2544	c.1823C>G	c.(1822-1824)tCa>tGa	p.S608*	LMO7_ENST00000526202.1_Nonsense_Mutation_p.S458*|LMO7_ENST00000357063.3_Nonsense_Mutation_p.S893*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.S893*|LMO7_ENST00000341547.4_Nonsense_Mutation_p.S559*|LMO7_ENST00000465261.2_Nonsense_Mutation_p.S608*			Q8WWI1	LMO7_HUMAN	LIM domain 7	893					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACTCGTGTTTCAGCTTCTCTC	0.473																																																	0													98.0	93.0	94.0					13																	76395627		2203	4300	6503	SO:0001587	stop_gained	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.1823C>G	13.37:g.76395627C>G	ENSP00000317802:p.Ser608*	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Nonsense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.S893*	ENST00000321797.8	37	c.2678		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	50|50	16.584187|16.584187	0.99867|0.99867	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000447038|ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261	.|.	.|.	.|.	5.91|5.91	5.91|5.91	0.95273|0.95273	.|.	.|0.337385	.|0.32753	.|N	.|0.005698	T|.	0.69958|.	0.3169|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.77568|.	-0.2539|.	3|.	.|0.87932	.|D	.|0	-12.412|-12.412	13.4829|13.4829	0.61348|0.61348	0.0:0.9288:0.0:0.0712|0.0:0.9288:0.0:0.0712	.|.	.|.	.|.	.|.	L|X	516|559;893;893;507;608;458;608	.|.	.|ENSP00000317802:S608X	F|S	+|+	3|2	2|0	LMO7|LMO7	75293628|75293628	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.968000|0.968000	0.65278|0.65278	5.049000|5.049000	0.64244|0.64244	2.791000|2.791000	0.96007|0.96007	0.650000|0.650000	0.86243|0.86243	TTC|TCA	LMO7	-	NULL		0.473	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	C	NM_005358		76395627	+1	no_errors	ENST00000357063	ensembl	human	known	70_37	nonsense	SNP	1.000	G
LMO7	4008	genome.wustl.edu	37	13	76415797	76415797	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:76415797C>G	ENST00000321797.8	+	22	3731	c.3010C>G	c.(3010-3012)Ctg>Gtg	p.L1004V	LMO7_ENST00000526202.1_Missense_Mutation_p.L881V|LMO7_ENST00000357063.3_Missense_Mutation_p.L1289V|LMO7_ENST00000377534.3_Missense_Mutation_p.L1289V|LMO7_ENST00000341547.4_Missense_Mutation_p.L955V|LMO7_ENST00000465261.2_Missense_Mutation_p.L1004V			Q8WWI1	LMO7_HUMAN	LIM domain 7	1289					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CAGCATGTCTCTGACCACACG	0.473																																																	0													87.0	87.0	87.0					13																	76415797		2203	4300	6503	SO:0001583	missense	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000321797.8:c.3010C>G	13.37:g.76415797C>G	ENSP00000317802:p.Leu1004Val	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Missense_Mutation	SNP	pfam_CH-domain,pfam_PDZ,superfamily_CH-domain,superfamily_PDZ,smart_CH-domain,smart_PDZ,pfscan_CH-domain,pfscan_PDZ,prints_SM22_calponin	p.L1289V	ENST00000321797.8	37	c.3865		13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.968|6.968	0.548508|0.548508	0.13312|0.13312	.|.	.|.	ENSG00000136153|ENSG00000136153	ENST00000341547;ENST00000357063;ENST00000377534;ENST00000377499;ENST00000321797;ENST00000526202;ENST00000465261|ENST00000447038;ENST00000525914	T;T;T;T;T;T;T|T;T	0.42900|0.46819	0.96;0.96;0.96;0.96;0.96;0.96;0.96|0.86;0.86	6.06|6.06	1.13|1.13	0.20643|0.20643	.|.	0.896444|.	0.09943|.	N|.	0.735628|.	T|T	0.49029|0.49029	0.1533|0.1533	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	B;B;B;B;B|.	0.21071|.	0.004;0.011;0.051;0.004;0.012|.	B;B;B;B;B|.	0.14023|.	0.004;0.009;0.01;0.004;0.01|.	T|T	0.48692|0.48692	-0.9013|-0.9013	10|7	0.22109|0.87932	T|D	0.4|0	0.06|0.06	13.4284|13.4284	0.61039|0.61039	0.0:0.4329:0.5009:0.0662|0.0:0.4329:0.5009:0.0662	.|.	881;955;1289;1004;1237|.	E9PMS6;Q8WWI1-3;Q8WWI1;E9PLH4;F8J2B5|.	.;.;LMO7_HUMAN;.;.|.	V|C	955;1289;1289;903;1004;881;1004|912;172	ENSP00000342112:L955V;ENSP00000349571:L1289V;ENSP00000366757:L1289V;ENSP00000366719:L903V;ENSP00000317802:L1004V;ENSP00000431129:L881V;ENSP00000433352:L1004V|ENSP00000388955:S912C;ENSP00000434083:S172C	ENSP00000317802:L1004V|ENSP00000388955:S912C	L|S	+|+	1|2	2|0	LMO7|LMO7	75313798|75313798	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.690000|0.690000	0.40134|0.40134	0.105000|0.105000	0.15333|0.15333	-0.054000|-0.054000	0.13266|0.13266	-1.886000|-1.886000	0.00541|0.00541	CTG|TCT	LMO7	-	NULL		0.473	LMO7-005	PUTATIVE	alternative_5_UTR|not_organism_supported|basic|exp_conf	protein_coding	LMO7	HGNC	protein_coding	OTTHUMT00000045301.3	C	NM_005358		76415797	+1	no_errors	ENST00000357063	ensembl	human	known	70_37	missense	SNP	0.001	G
PCBP3	54039	genome.wustl.edu	37	21	47250213	47250213	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:47250213G>A	ENST00000400314.1	+	3	213				AL592528.1_ENST00000380008.1_RNA			P57721	PCBP3_HUMAN	poly(rC) binding protein 3						mRNA metabolic process (GO:0016071)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		GCTCTGCAGGGAGCCCCTCTT	0.597																																																	0																																										SO:0001627	intron_variant	100129027			AF176329	CCDS42974.2, CCDS46652.1	21q22.3	2013-07-16	2001-11-28		ENSG00000183570	ENSG00000183570			8651	protein-coding gene	gene with protein product		608502	"""poly(rC)-binding protein 3"""			10936052	Standard	NM_020528		Approved		uc002zhq.2	P57721	OTTHUMG00000090399	ENST00000400314.1:c.-125-19662G>A	21.37:g.47250213G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MPS2|A8MQ26|B7WNN9|B7WPC1|Q8N9K6|Q96EP6	RNA	SNP	-	NULL	ENST00000400314.1	37	NULL	CCDS42974.2	21																																																																																			AL592528.1	-	-		0.597	PCBP3-001	KNOWN	basic|CCDS	protein_coding	LOC100129027	Clone_based_vega_gene	protein_coding	OTTHUMT00000206808.2	G			47250213	-1	no_errors	ENST00000380008	ensembl	human	known	70_37	rna	SNP	0.004	A
NPIPB5	100132247	genome.wustl.edu	37	16	22545935	22545935	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:22545935C>T	ENST00000517539.1	+	8	1706	c.1631C>T	c.(1630-1632)tCa>tTa	p.S544L	NPIPB5_ENST00000424340.1_Missense_Mutation_p.S544L|NPIPB5_ENST00000415654.1_3'UTR			A8MRT5	NPIB5_HUMAN	nuclear pore complex interacting protein family, member B5	544	Pro-rich.					integral component of membrane (GO:0016021)											CTTCCACCCTCAGCGGATGAT	0.567																																																	0													3.0	3.0	3.0					16																	22545935		644	1467	2111	SO:0001583	missense	100132247				CCDS45443.1	16p12.2	2013-06-11			ENSG00000243716	ENSG00000243716			37233	protein-coding gene	gene with protein product							Standard	NM_001135865		Approved			A8MRT5	OTTHUMG00000163573	ENST00000517539.1:c.1631C>T	16.37:g.22545935C>T	ENSP00000430633:p.Ser544Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK13	Missense_Mutation	SNP	pfam_NPIP	p.S544L	ENST00000517539.1	37	c.1631	CCDS45443.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	10.19|10.19	1.282244|1.282244	0.23392|0.23392	.|.	.|.	ENSG00000243716|ENSG00000243716	ENST00000457705|ENST00000415833;ENST00000424340;ENST00000342168;ENST00000503072;ENST00000517539;ENST00000528249	.|T;T;T;T	.|0.22134	.|2.18;1.97;1.97;2.18	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.33789	.|0.0875	L|L	0.50333|0.50333	1.59|1.59	0.09310|0.09310	N|N	1|1	.|P;P	.|0.38863	.|0.597;0.65	.|P;P	.|0.58391	.|0.838;0.637	.|T	.|0.35251	.|-0.9796	.|7	0.05436|0.87932	T|D	0.98|0	.|.	.|.	.|.	.|.	.|.	.|544;544	.|F5GWX0;A8MRT5	.|.;K220L_HUMAN	X|L	378|544;544;544;422;544;544	.|ENSP00000445388:S544L;ENSP00000440703:S544L;ENSP00000430633:S544L;ENSP00000431553:S544L	ENSP00000446325:Q378X|ENSP00000441680:S544L	Q|S	+|+	1|2	0|0	RP11-368J21.2|RP11-368J21.2	22453436|22453436	0.018000|0.018000	0.18449|0.18449	0.015000|0.015000	0.15790|0.15790	0.015000|0.015000	0.08874|0.08874	0.076000|0.076000	0.14712|0.14712	0.064000|0.064000	0.16427|0.16427	0.064000|0.064000	0.15345|0.15345	CAG|TCA	61E3.4	-	pfam_NPIP		0.567	NPIPB5-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LOC100132247	Uniprot_genename	protein_coding	OTTHUMT00000374343.2	C	NM_001135865		22545935	+1	no_errors	ENST00000424340	ensembl	human	known	70_37	missense	SNP	0.015	T
POMZP3	22932	genome.wustl.edu	37	7	76255977	76255977	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:76255977C>G	ENST00000310842.4	-	1	534				UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Intron	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion											kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				TCCTCGATTTCAAGCCAGCCG	0.527																																																	0																																										SO:0001627	intron_variant	100133091			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.150+47G>C	7.37:g.76255977C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	F6STJ3|Q12903|Q9BWB4	RNA	SNP	-	NULL	ENST00000310842.4	37	NULL	CCDS43606.1	7																																																																																			AC004980.7	-	-		0.527	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100133091	Clone_based_vega_gene	protein_coding	OTTHUMT00000341775.1	C	NM_012230		76255977	+1	no_errors	ENST00000418663	ensembl	human	known	70_37	rna	SNP	0.079	G
PRICKLE2-AS1	100652759	genome.wustl.edu	37	3	64072797	64072797	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:64072797C>G	ENST00000482609.1	+	0	198				LINC00994_ENST00000485805.1_lincRNA	NR_045697.1																						GACCTGTGCTCTAAATGTGTT	0.443																																																	0																																												100287879																															3.37:g.64072797C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000482609.1	37	NULL		3																																																																																			RP11-129B22.2	-	-		0.443	RP11-129B22.1-001	KNOWN	basic	antisense	LOC100287879	Clone_based_vega_gene	antisense	OTTHUMT00000352218.1	C			64072797	-1	no_errors	ENST00000485805	ensembl	human	known	70_37	rna	SNP	0.001	G
SLC17A7	57030	genome.wustl.edu	37	19	49931279	49931279	+	IGR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:49931279G>C	ENST00000221485.3	-	0	2973				CTD-3148I10.1_ENST00000576655.1_Silent_p.L420L	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7						glutamate secretion (GO:0014047)|ion transport (GO:0006811)|L-glutamate import (GO:0051938)|long-term memory (GO:0007616)|neurotransmitter secretion (GO:0007269)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|sequestering of neurotransmitter (GO:0042137)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cerebellar mossy fiber (GO:0044300)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|synaptic vesicle membrane (GO:0030672)	inorganic phosphate transmembrane transporter activity (GO:0005315)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:inorganic phosphate symporter activity (GO:0015319)			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CCGCGCTGCTGATCGGCATCT	0.652																																																	0																																										SO:0001628	intergenic_variant	100507003			AB032436	CCDS12764.1	19q13.33	2013-07-18	2013-07-18		ENSG00000104888	ENSG00000104888		"""Solute carriers"""	16704	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 1"""	605208	"""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7"""			8632143, 10820226	Standard	NM_020309		Approved	BNPI, VGLUT1	uc002pnp.3	Q9P2U7			19.37:g.49931279G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFR9|B4DG46|Q6PCD0	Silent	SNP	NULL	p.L420	ENST00000221485.3	37	c.1260	CCDS12764.1	19																																																																																			CTD-3148I10.1	-	NULL		0.652	SLC17A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC100507003	Clone_based_vega_gene	protein_coding	OTTHUMT00000465367.2	G			49931279	+1	no_errors	ENST00000576655	ensembl	human	putative	70_37	silent	SNP	0.891	C
RP11-366F6.2	0	genome.wustl.edu	37	X	151073046	151073046	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:151073046C>G	ENST00000445330.1	-	0	392				RP11-366F6.2_ENST00000411474.1_RNA																							ACTGACTGCTCAGGGAGACAC	0.493																																																	0																																												100507199																															X.37:g.151073046C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000445330.1	37	NULL		X																																																																																			RP11-366F6.2	-	-		0.493	RP11-366F6.2-002	KNOWN	basic|exp_conf	antisense	LOC100507199	Clone_based_vega_gene	antisense	OTTHUMT00000060901.1	C			151073046	-1	no_errors	ENST00000411474	ensembl	human	known	70_37	rna	SNP	0.000	G
KIAA2012	100652824	genome.wustl.edu	37	2	202967705	202967705	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:202967705G>A	ENST00000541917.1	+	8	1565	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	AC079354.1_ENST00000295844.3_Missense_Mutation_p.E454K|AC079354.1_ENST00000409515.3_3'UTR																							TATCTCAGAAGAACCACCCAG	0.478																																																	0																																										SO:0001583	missense	100652824																														ENST00000541917.1:c.1192G>A	2.37:g.202967705G>A	ENSP00000437957:p.Glu398Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E398K	ENST00000541917.1	37	c.1192		2	.	.	.	.	.	.	.	.	.	.	G	14.18	2.457256	0.43634	.	.	ENSG00000182329	ENST00000541917;ENST00000295844;ENST00000498697	.	.	.	5.92	4.07	0.47477	.	0.370384	0.23353	N	0.049105	T	0.48607	0.1509	L	0.59436	1.845	0.25537	N	0.987216	P;P	0.52316	0.952;0.952	P;P	0.53360	0.724;0.724	T	0.42515	-0.9447	9	0.72032	D	0.01	-8.6995	8.4769	0.33018	0.082:0.1532:0.7648:0.0	.	398;454	B4DIH8;E7EP55	.;.	K	398;454;18	.	ENSP00000295844:E454K	E	+	1	0	AC079354.1	202675950	1.000000	0.71417	0.804000	0.32291	0.311000	0.27955	2.520000	0.45554	1.538000	0.49270	-0.141000	0.14075	GAA	FLJ39061	-	NULL		0.478	AC079354.1-201	KNOWN	basic|appris_principal	protein_coding	LOC100652824	Uniprot_genename	protein_coding		G			202967705	+1	no_errors	ENST00000541917	ensembl	human	known	70_37	missense	SNP	0.835	A
LOC645166	645166	genome.wustl.edu	37	1	148951425	148951425	+	lincRNA	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:148951425G>A	ENST00000539543.1	+	0	435					NR_027355.2																						CTGGATACCTGAGTCACCAGG	0.498																																																	0																																												101060590																															1.37:g.148951425G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000539543.1	37	NULL		1																																																																																			RP11-14N7.2	-	-		0.498	RP11-14N7.2-201	KNOWN	basic	lincRNA	LOC101060590	Clone_based_vega_gene	lincRNA		G			148951425	+1	no_errors	ENST00000452399	ensembl	human	known	70_37	rna	SNP	0.851	A
TIAM1	7074	genome.wustl.edu	37	21	32931906	32931906	+	5'Flank	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:32931906G>A	ENST00000286827.3	-	0	0				TIAM1_ENST00000469412.1_Intron|AP000251.3_ENST00000433071.2_RNA	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1						apoptotic signaling pathway (GO:0097190)|cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|ephrin receptor signaling pathway (GO:0048013)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell-cell contact zone (GO:0044291)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	phospholipid binding (GO:0005543)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|receptor signaling protein activity (GO:0005057)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GGATTGGTCGGAGGTAAAGGA	0.602																																																	0																																										SO:0001631	upstream_gene_variant	150051				CCDS13609.1	21q22.1	2013-01-10			ENSG00000156299	ENSG00000156299		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11805	protein-coding gene	gene with protein product		600687				8595894, 15340013	Standard	NM_003253		Approved		uc002yow.1	Q13009	OTTHUMG00000084869		21.37:g.32931906G>A	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLR6|F5GZ53|Q17RT7	RNA	SNP	-	NULL	ENST00000286827.3	37	NULL	CCDS13609.1	21																																																																																			AP000251.2	-	-		0.602	TIAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC150051	Clone_based_vega_gene	protein_coding	OTTHUMT00000192552.1	G	NM_003253		32931906	+1	no_errors	ENST00000433071	ensembl	human	known	70_37	rna	SNP	0.996	A
LOC728175	728175	genome.wustl.edu	37	4	185263061	185263061	+	lincRNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:185263061C>T	ENST00000317596.3	-	0	1000					NR_040108.1																						gcattgcattcagggaaagca	0.478																																																	0																																												728175																															4.37:g.185263061C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000317596.3	37	NULL		4																																																																																			RP11-290F5.2	-	-		0.478	RP11-290F5.2-001	KNOWN	basic	lincRNA	LOC728175	Clone_based_vega_gene	lincRNA	OTTHUMT00000361426.1	C			185263061	-1	no_errors	ENST00000317596	ensembl	human	known	70_37	rna	SNP	0.021	T
LPHN1	22859	genome.wustl.edu	37	19	14270986	14270986	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:14270986C>G	ENST00000340736.6	-	9	2050	c.1753G>C	c.(1753-1755)Gat>Cat	p.D585H	CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.D580H|LPHN1_ENST00000591528.1_5'Flank|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	585					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCTGGGCATCCAGGATGTCC	0.667																																																	0													45.0	52.0	49.0					19																	14270986		2203	4300	6503	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.1753G>C	19.37:g.14270986C>G	ENSP00000340688:p.Asp585His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D585H	ENST00000340736.6	37	c.1753	CCDS32928.1	19	.	.	.	.	.	.	.	.	.	.	C	25.6	4.656404	0.88056	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	T;T	0.11063	2.81;2.81	5.26	5.26	0.73747	Domain of unknown function DUF3497 (1);	0.000000	0.85682	D	0.000000	T	0.32194	0.0821	M	0.67953	2.075	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.74674	0.984;0.972	T	0.01476	-1.1345	10	0.87932	D	0	.	16.7274	0.85426	0.0:1.0:0.0:0.0	.	580;585	O94910-2;O94910	.;LPHN1_HUMAN	H	585;580	ENSP00000340688:D585H;ENSP00000355328:D580H	ENSP00000340688:D585H	D	-	1	0	LPHN1	14131986	1.000000	0.71417	0.999000	0.59377	0.832000	0.47134	7.776000	0.85560	2.618000	0.88619	0.561000	0.74099	GAT	LPHN1	-	pfam_DUF3497		0.667	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	LPHN1	HGNC	protein_coding	OTTHUMT00000459696.1	C	NM_014921		14270986	-1	no_errors	ENST00000340736	ensembl	human	known	70_37	missense	SNP	1.000	G
LPHN3	23284	genome.wustl.edu	37	4	62761478	62761478	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:62761478G>T	ENST00000514591.1	+	10	1938	c.1609G>T	c.(1609-1611)Gat>Tat	p.D537Y	LPHN3_ENST00000506746.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000504896.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000514157.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000508946.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000511324.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000507164.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000508693.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000506700.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000507625.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000509896.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000545650.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000514996.1_Missense_Mutation_p.D537Y|LPHN3_ENST00000506720.1_Missense_Mutation_p.D605Y|LPHN3_ENST00000512091.2_Missense_Mutation_p.D537Y			Q9HAR2	LPHN3_HUMAN	latrophilin 3	537					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCTTGCTCCTGATGGAATTTG	0.368																																																	0													86.0	82.0	83.0					4																	62761478		1835	4090	5925	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.1609G>T	4.37:g.62761478G>T	ENSP00000422533:p.Asp537Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D605Y	ENST00000514591.1	37	c.1813	CCDS54768.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.25|11.25	1.584167|1.584167	0.28268|0.28268	.|.	.|.	ENSG00000150471|ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000534975;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996|ENST00000502815	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.71103|.	-0.52;-0.52;-0.54;-0.54;-0.52;-0.52;-0.53;-0.53;-0.53;-0.52;-0.52;-0.51;-0.52;-0.52;-0.51|.	5.39|5.39	4.54|4.54	0.55810|0.55810	.|.	0.427515|.	0.23371|.	N|.	0.048913|.	T|.	0.45637|.	0.1352|.	L|L	0.29908|0.29908	0.895|0.895	0.36230|0.36230	D|D	0.852568|0.852568	B;B|.	0.24768|.	0.111;0.091|.	B;B|.	0.24974|.	0.057;0.048|.	T|.	0.49698|.	-0.8912|.	10|.	0.59425|.	D|.	0.04|.	.|.	9.6467|9.6467	0.39872|0.39872	0.1607:0.0:0.8393:0.0|0.1607:0.0:0.8393:0.0	.|.	537;537|.	E9PE04;Q9HAR2-2|.	.;.|.	Y|L	537;537;605;605;537;537;537;537;537;605;605;605;537;537;537;605;605;537|7	ENSP00000423388:D537Y;ENSP00000422533:D537Y;ENSP00000423787:D605Y;ENSP00000425033:D605Y;ENSP00000424120:D537Y;ENSP00000439831:D537Y;ENSP00000421476:D605Y;ENSP00000424030:D605Y;ENSP00000421372:D605Y;ENSP00000425201:D537Y;ENSP00000423434:D537Y;ENSP00000421627:D537Y;ENSP00000420931:D605Y;ENSP00000425884:D605Y;ENSP00000424258:D537Y|.	ENSP00000280009:D537Y|.	D|X	+|+	1|2	0|2	LPHN3|LPHN3	62444073|62444073	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	4.098000|4.098000	0.57748|0.57748	2.526000|2.526000	0.85167|0.85167	0.563000|0.563000	0.77884|0.77884	GAT|TGA	LPHN3	-	pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,pfscan_GPCR_2_extracellular_dom		0.368	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62761478	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	1.000	T
LPHN3	23284	genome.wustl.edu	37	4	62845482	62845482	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:62845482G>A	ENST00000514591.1	+	17	3132	c.2803G>A	c.(2803-2805)Gac>Aac	p.D935N	LPHN3_ENST00000506746.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000504896.1_Missense_Mutation_p.D935N|LPHN3_ENST00000514157.1_Missense_Mutation_p.D935N|LPHN3_ENST00000508946.1_Missense_Mutation_p.D935N|LPHN3_ENST00000511324.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000507164.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000508693.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000506700.1_Missense_Mutation_p.D935N|LPHN3_ENST00000507625.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000509896.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000545650.1_Missense_Mutation_p.D935N|LPHN3_ENST00000514996.1_Missense_Mutation_p.D935N|LPHN3_ENST00000506720.1_Missense_Mutation_p.D1003N|LPHN3_ENST00000512091.2_Missense_Mutation_p.D935N			Q9HAR2	LPHN3_HUMAN	latrophilin 3	922					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CAACCGAACTGACCAACCAGT	0.443																																																	0													117.0	112.0	114.0					4																	62845482		2002	4201	6203	SO:0001583	missense	23284			AB018311	CCDS54768.1	4q13.1	2014-08-08				ENSG00000150471		"""-"", ""GPCR / Class B : Orphans"""	20974	protein-coding gene	gene with protein product						10994649	Standard	NM_015236		Approved	KIAA0768, LEC3	uc010ihh.3	Q9HAR2		ENST00000514591.1:c.2803G>A	4.37:g.62845482G>A	ENSP00000422533:p.Asp935Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE04|O94867|Q9NWK5	Missense_Mutation	SNP	pfam_GPCR_2_latrophilin_rcpt_C,pfam_Olfac-like,pfam_DUF3497,pfam_GPCR_2_secretin-like,pfam_Lectin_gal-bd_dom,pfam_GPS_dom,pfam_GPCR_2_extracellular_dom,smart_Olfac-like,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_GPS_dom,pfscan_Lectin_gal-bd_dom,pfscan_Olfac-like,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_latrophilin,prints_GPCR_2_secretin-like	p.D1003N	ENST00000514591.1	37	c.3007	CCDS54768.1	4	.	.	.	.	.	.	.	.	.	.	G	18.74	3.687601	0.68157	.	.	ENSG00000150471	ENST00000512091;ENST00000514591;ENST00000509896;ENST00000511324;ENST00000506700;ENST00000545650;ENST00000295349;ENST00000280009;ENST00000507164;ENST00000508693;ENST00000507625;ENST00000514157;ENST00000504896;ENST00000508946;ENST00000506720;ENST00000506746;ENST00000514996	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.37058	1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22;1.22	5.5	5.5	0.81552	GPCR, family 2-like (1);	0.000000	0.85682	D	0.000000	T	0.48572	0.1507	N	0.25332	0.735	0.58432	D	0.999997	D;D;D	0.76494	0.999;0.999;0.998	D;D;D	0.85130	0.997;0.997;0.995	T	0.34428	-0.9829	10	0.29301	T	0.29	.	19.0068	0.92854	0.0:0.0:1.0:0.0	.	935;922;935	E9PE04;Q9HAR2;Q9HAR2-2	.;LPHN3_HUMAN;.	N	935;935;1003;1003;935;935;922;935;1003;1003;1003;935;935;935;1003;1003;935	ENSP00000423388:D935N;ENSP00000422533:D935N;ENSP00000423787:D1003N;ENSP00000425033:D1003N;ENSP00000424120:D935N;ENSP00000439831:D935N;ENSP00000421476:D1003N;ENSP00000424030:D1003N;ENSP00000421372:D1003N;ENSP00000425201:D935N;ENSP00000423434:D935N;ENSP00000421627:D935N;ENSP00000420931:D1003N;ENSP00000425884:D1003N;ENSP00000424258:D935N	ENSP00000280009:D935N	D	+	1	0	LPHN3	62528077	1.000000	0.71417	0.995000	0.50966	0.489000	0.33432	7.777000	0.85628	2.580000	0.87095	0.467000	0.42956	GAC	LPHN3	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.443	LPHN3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	LPHN3	HGNC	protein_coding	OTTHUMT00000361765.1	G			62845482	+1	no_errors	ENST00000507625	ensembl	human	known	70_37	missense	SNP	0.999	A
LPO	4025	genome.wustl.edu	37	17	56329551	56329551	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:56329551C>T	ENST00000262290.4	+	8	1105	c.789C>T	c.(787-789)ccC>ccT	p.P263P	LPO_ENST00000582328.1_Silent_p.P180P|LPO_ENST00000543544.1_Silent_p.P204P|LPO_ENST00000421678.2_Silent_p.P180P	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	263					defense response to bacterium (GO:0042742)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|hydrogen peroxide catabolic process (GO:0042744)|response to oxidative stress (GO:0006979)|thiocyanate metabolic process (GO:0018969)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme binding (GO:0020037)|metal ion binding (GO:0046872)|thiocyanate peroxidase activity (GO:0036393)			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AGTTCCCACCCAATGACCCCA	0.602																																																	0													68.0	60.0	63.0					17																	56329551		2203	4300	6503	SO:0001819	synonymous_variant	4025			M58151	CCDS32689.1, CCDS54149.1	17q23.1	2008-02-05				ENSG00000167419	1.11.1.7		6678	protein-coding gene	gene with protein product		150205				2222811, 8964511	Standard	NM_006151		Approved	SPO	uc002ivt.3	P22079		ENST00000262290.4:c.789C>T	17.37:g.56329551C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5JUY4|E7EMJ3|Q13408|Q3KNQ2	Silent	SNP	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.P263	ENST00000262290.4	37	c.789	CCDS32689.1	17																																																																																			LPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.602	LPO-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LPO	HGNC	protein_coding	OTTHUMT00000443961.1	C			56329551	+1	no_errors	ENST00000262290	ensembl	human	known	70_37	silent	SNP	0.000	T
LRG1	116844	genome.wustl.edu	37	19	4538053	4538053	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4538053G>C	ENST00000306390.6	-	2	1403	c.943C>G	c.(943-945)Cag>Gag	p.Q315E	CTB-50L17.14_ENST00000586020.1_Intron|LRG1_ENST00000586883.1_5'Flank|PLIN5_ENST00000586133.1_5'Flank|PLIN5_ENST00000381848.3_5'Flank	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	315	LRRCT.				brown fat cell differentiation (GO:0050873)|positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TTTTGGGCCTGAAGCCAACGA	0.587																																																	0													70.0	65.0	67.0					19																	4538053		2203	4300	6503	SO:0001583	missense	116844				CCDS12130.1	19p13.3	2013-09-20			ENSG00000171236	ENSG00000171236			29480	protein-coding gene	gene with protein product	"""leucine rich alpha 2 glycoprotein"""	611289				3856868, 12223515	Standard	NM_052972		Approved	LRG	uc002mau.3	P02750	OTTHUMG00000182010	ENST00000306390.6:c.943C>G	19.37:g.4538053G>C	ENSP00000302621:p.Gln315Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4F5|Q96QZ4	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Q315E	ENST00000306390.6	37	c.943	CCDS12130.1	19	.	.	.	.	.	.	.	.	.	.	.	0.155	-1.087111	0.01873	.	.	ENSG00000171236	ENST00000306390;ENST00000538589	T	0.52295	0.67	5.24	-10.5	0.00291	Cysteine-rich flanking region, C-terminal (1);	2.126340	0.02965	N	0.143643	T	0.18551	0.0445	N	0.04768	-0.165	0.09310	N	1	B	0.18610	0.029	B	0.14023	0.01	T	0.09422	-1.0675	10	0.19147	T	0.46	-1.5729	3.7741	0.08653	0.2143:0.4963:0.1409:0.1485	.	315	P02750	A2GL_HUMAN	E	315;298	ENSP00000302621:Q315E	ENSP00000302621:Q315E	Q	-	1	0	LRG1	4489053	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.681000	0.01937	-2.565000	0.00471	-2.225000	0.00294	CAG	LRG1	-	smart_Cys-rich_flank_reg_C		0.587	LRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRG1	HGNC	protein_coding	OTTHUMT00000458654.2	G	NM_052972		4538053	-1	no_errors	ENST00000306390	ensembl	human	known	70_37	missense	SNP	0.000	C
LRIG1	26018	genome.wustl.edu	37	3	66433434	66433434	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:66433434C>G	ENST00000273261.3	-	15	2987	c.2463G>C	c.(2461-2463)aaG>aaC	p.K821N	SLC25A26_ENST00000536651.1_Intron|LRIG1_ENST00000496559.2_5'UTR|LRIG1_ENST00000383703.3_Missense_Mutation_p.K798N	NM_015541.2	NP_056356.2	Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	821					innervation (GO:0060384)|otolith morphogenesis (GO:0032474)|sensory perception of sound (GO:0007605)	integral component of membrane (GO:0016021)				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		ACTCTTCACTCTTCTTCCTGG	0.572																																																	0													107.0	80.0	89.0					3																	66433434		2203	4300	6503	SO:0001583	missense	26018			AB050468	CCDS33783.1	3p14	2013-01-14			ENSG00000144749	ENSG00000144749		"""Immunoglobulin superfamily / I-set domain containing"""	17360	protein-coding gene	gene with protein product	"""ortholog of mouse integral membrane glycoprotein LIG-1"", ""leucine-rich repeat protein LRIG1"""	608868				11414704, 12234026	Standard	NM_015541		Approved	LIG-1, DKFZP586O1624, LIG1	uc003dmx.3	Q96JA1	OTTHUMG00000158727	ENST00000273261.3:c.2463G>C	3.37:g.66433434C>G	ENSP00000273261:p.Lys821Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IQ51|Q96CF9|Q9BYB8|Q9UFI4	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Cys-rich_flank_reg_C,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K821N	ENST00000273261.3	37	c.2463	CCDS33783.1	3	.	.	.	.	.	.	.	.	.	.	C	15.58	2.875478	0.51695	.	.	ENSG00000144749	ENST00000273261;ENST00000383703;ENST00000383702	T;T	0.69040	-0.37;-0.37	5.88	4.1	0.47936	.	0.047591	0.85682	D	0.000000	T	0.66626	0.2808	M	0.74647	2.275	0.44745	D	0.997741	P;B;B	0.36378	0.55;0.065;0.284	B;B;B	0.37387	0.248;0.06;0.126	T	0.65631	-0.6121	10	0.42905	T	0.14	.	12.5404	0.56167	0.0:0.8655:0.0:0.1345	.	798;821;821	Q96JA1-2;Q5XWD3;Q96JA1	.;.;LRIG1_HUMAN	N	821;798;724	ENSP00000273261:K821N;ENSP00000373208:K798N	ENSP00000273261:K821N	K	-	3	2	LRIG1	66516124	1.000000	0.71417	1.000000	0.80357	0.909000	0.53808	2.693000	0.47027	0.825000	0.34637	0.655000	0.94253	AAG	LRIG1	-	NULL		0.572	LRIG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIG1	HGNC	protein_coding	OTTHUMT00000351930.1	C	NM_015541		66433434	-1	no_errors	ENST00000273261	ensembl	human	known	70_37	missense	SNP	1.000	G
LRP1	4035	genome.wustl.edu	37	12	57522810	57522810	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:57522810C>G	ENST00000243077.3	+	1	529	c.63C>G	c.(61-63)atC>atG	p.I21M	LRP1_ENST00000554174.1_Missense_Mutation_p.I21M|STAT6_ENST00000556155.1_5'UTR|LRP1_ENST00000338962.4_Missense_Mutation_p.I21M|LRP1_ENST00000553277.1_Missense_Mutation_p.I21M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	21					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGCGGCTATCGACGGTGAGT	0.687																																																	0													32.0	30.0	30.0					12																	57522810		1828	3421	5249	SO:0001583	missense	4035			X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.63C>G	12.37:g.57522810C>G	ENSP00000243077:p.Ile21Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2PP12|Q86SW0|Q8IVG8	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.I21M	ENST00000243077.3	37	c.63	CCDS8932.1	12	.	.	.	.	.	.	.	.	.	.	C	9.953	1.220732	0.22457	.	.	ENSG00000123384	ENST00000553277;ENST00000243077;ENST00000338962;ENST00000554174	D;D;D;D	0.90133	-2.57;-2.61;-2.52;-2.62	4.08	0.912	0.19349	.	0.339279	0.22667	N	0.057103	T	0.80071	0.4556	N	0.24115	0.695	0.21627	N	0.999616	B;B;B;B	0.14805	0.001;0.011;0.0;0.0	B;B;B;B	0.08055	0.0;0.001;0.001;0.003	T	0.66826	-0.5825	10	0.37606	T	0.19	.	5.7175	0.17968	0.0:0.4737:0.4118:0.1145	.	21;21;21;21	Q86SW0;Q07954;Q6PJ72;Q7Z7K9	.;LRP1_HUMAN;.;.	M	21	ENSP00000451449:I21M;ENSP00000243077:I21M;ENSP00000341264:I21M;ENSP00000451737:I21M	ENSP00000243077:I21M	I	+	3	3	LRP1	55809077	0.989000	0.36119	0.720000	0.30636	0.973000	0.67179	0.276000	0.18716	0.462000	0.27095	0.549000	0.68633	ATC	LRP1	-	NULL		0.687	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1	HGNC	protein_coding	OTTHUMT00000412772.2	C	NM_002332		57522810	+1	no_errors	ENST00000243077	ensembl	human	known	70_37	missense	SNP	0.689	G
LRP1B	53353	genome.wustl.edu	37	2	141083363	141083363	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:141083363G>C	ENST00000389484.3	-	80	13279	c.12308C>G	c.(12307-12309)tCt>tGt	p.S4103C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4103					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACTGAATTAGAGCCATCATA	0.368										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													113.0	102.0	106.0					2																	141083363		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.12308C>G	2.37:g.141083363G>C	ENSP00000374135:p.Ser4103Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.S4103C	ENST00000389484.3	37	c.12308	CCDS2182.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.28|17.28	3.348510|3.348510	0.61183|0.61183	.|.	.|.	ENSG00000168702|ENSG00000168702	ENST00000437977|ENST00000389484;ENST00000544579	.|D	.|0.91686	.|-2.89	5.13|5.13	5.13|5.13	0.70059|0.70059	.|Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.|0.085006	.|0.49916	.|U	.|0.000127	D|D	0.95551|0.95551	0.8554|0.8554	M|M	0.86740|0.86740	2.835|2.835	0.47621|0.47621	D|D	0.999473|0.999473	.|D	.|0.63046	.|0.992	.|P	.|0.54401	.|0.751	D|D	0.96240|0.96240	0.9175|0.9175	5|10	.|0.72032	.|D	.|0.01	.|.	18.583|18.583	0.91178|0.91178	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|4103	.|Q9NZR2	.|LRP1B_HUMAN	V|C	335|4103;4041	.|ENSP00000374135:S4103C	.|ENSP00000374135:S4103C	L|S	-|-	1|2	2|0	LRP1B|LRP1B	140799833|140799833	1.000000|1.000000	0.71417|0.71417	0.903000|0.903000	0.35520|0.35520	0.153000|0.153000	0.21895|0.21895	9.423000|9.423000	0.97461|0.97461	2.382000|2.382000	0.81193|0.81193	0.591000|0.591000	0.81541|0.81541	CTA|TCT	LRP1B	-	superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt		0.368	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	G	NM_018557		141083363	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	C
LRP1B	53353	genome.wustl.edu	37	2	141253266	141253266	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:141253266C>G	ENST00000389484.3	-	56	9873	c.8902G>C	c.(8902-8904)Gac>Cac	p.D2968H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2968	EGF-like 12; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCAATGTCTACACATGTT	0.423										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)												0													142.0	127.0	132.0					2																	141253266		2203	4300	6503	SO:0001583	missense	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.8902G>C	2.37:g.141253266C>G	ENSP00000374135:p.Asp2968His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EG-like_dom,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D2968H	ENST00000389484.3	37	c.8902	CCDS2182.1	2	.	.	.	.	.	.	.	.	.	.	C	31	5.080257	0.94050	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	D	0.99868	-7.32	5.73	5.73	0.89815	EGF-like calcium-binding, conserved site (1);Growth factor, receptor (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	M	0.92923	3.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96708	0.9523	10	0.66056	D	0.02	.	19.907	0.97012	0.0:1.0:0.0:0.0	.	2968	Q9NZR2	LRP1B_HUMAN	H	2968;2906	ENSP00000374135:D2968H	ENSP00000374135:D2968H	D	-	1	0	LRP1B	140969736	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.706000	0.84615	2.718000	0.92993	0.585000	0.79938	GAC	LRP1B	-	superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd		0.423	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRP1B	HGNC	protein_coding	OTTHUMT00000254736.2	C	NM_018557		141253266	-1	no_errors	ENST00000389484	ensembl	human	known	70_37	missense	SNP	1.000	G
LRP8	7804	genome.wustl.edu	37	1	53728200	53728200	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:53728200C>G	ENST00000306052.6	-	11	1793	c.1692G>C	c.(1690-1692)aaG>aaC	p.K564N	LRP8_ENST00000465675.1_Missense_Mutation_p.K117N|LRP8_ENST00000347547.2_Missense_Mutation_p.K394N|LRP8_ENST00000460214.1_5'Flank|LRP8_ENST00000354412.3_Missense_Mutation_p.K435N|LRP8_ENST00000371454.2_Missense_Mutation_p.K564N	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	564					ammon gyrus development (GO:0021541)|blood coagulation (GO:0007596)|cellular response to cholesterol (GO:0071397)|cellular response to growth factor stimulus (GO:0071363)|cytokine-mediated signaling pathway (GO:0019221)|endocytosis (GO:0006897)|layer formation in cerebral cortex (GO:0021819)|lipid metabolic process (GO:0006629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|phototransduction, visible light (GO:0007603)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendrite development (GO:1900006)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein tyrosine kinase activity (GO:0061098)|proteolysis (GO:0006508)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|regulation of synaptic transmission (GO:0050804)|response to drug (GO:0042493)|retinoid metabolic process (GO:0001523)|signal transduction (GO:0007165)	caveola (GO:0005901)|dendrite (GO:0030425)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|high-density lipoprotein particle binding (GO:0008035)|reelin receptor activity (GO:0038025)|transmembrane signaling receptor activity (GO:0004888)|very-low-density lipoprotein particle receptor activity (GO:0030229)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						ATTTCTCAATCTTGGCCTGGT	0.522																																																	0													218.0	218.0	218.0					1																	53728200		2203	4300	6503	SO:0001583	missense	7804			D50678	CCDS578.1, CCDS579.1, CCDS580.1, CCDS30720.1	1p32.3	2013-05-29			ENSG00000157193	ENSG00000157193		"""Low density lipoprotein receptors"""	6700	protein-coding gene	gene with protein product		602600				8626535, 9079678	Standard	NM_004631		Approved	APOER2, MCI1, LRP-8, HSZ75190	uc001cvi.2	Q14114	OTTHUMG00000008924	ENST00000306052.6:c.1692G>C	1.37:g.53728200C>G	ENSP00000303634:p.Lys564Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AMT6|B1AMT7|B1AMT8|O14968|Q86V27|Q99876|Q9BR78	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_Growth_fac_rcpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.K564N	ENST00000306052.6	37	c.1692	CCDS578.1	1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.095405	0.76870	.	.	ENSG00000157193	ENST00000306052;ENST00000371454;ENST00000465675;ENST00000354412;ENST00000347547	D;D;D;D;D	0.94862	-3.54;-3.54;-3.54;-3.54;-3.54	5.64	4.73	0.59995	Six-bladed beta-propeller, TolB-like (1);Growth factor, receptor (1);	.	.	.	.	D	0.97974	0.9333	H	0.97758	4.07	0.58432	D	0.999999	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;0.999;0.997	D;D;D;D;D;D	0.91635	0.994;0.998;0.999;0.994;0.991;0.989	D	0.98006	1.0363	9	0.87932	D	0	.	8.9179	0.35592	0.0:0.7819:0.0:0.2181	.	117;435;394;564;564;117	B3KU40;Q14114-2;Q14114-4;Q14114-3;Q14114;E9PP15	.;.;.;.;LRP8_HUMAN;.	N	564;564;117;435;394	ENSP00000303634:K564N;ENSP00000360509:K564N;ENSP00000437009:K117N;ENSP00000346391:K435N;ENSP00000334522:K394N	ENSP00000303634:K564N	K	-	3	2	LRP8	53500788	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.309000	0.33539	1.623000	0.50342	0.650000	0.86243	AAG	LRP8	-	pfam_LDLR_classB_rpt,superfamily_Growth_fac_rcpt,smart_LDLR_classB_rpt,pfscan_LDLR_classB_rpt		0.522	LRP8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRP8	HGNC	protein_coding	OTTHUMT00000024699.1	C	NM_004631		53728200	-1	no_errors	ENST00000306052	ensembl	human	known	70_37	missense	SNP	1.000	G
LRRC1	55227	genome.wustl.edu	37	6	53787584	53787584	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:53787584C>T	ENST00000370888.1	+	14	1845	c.1568C>T	c.(1567-1569)tCt>tTt	p.S523F	RP3-523E19.2_ENST00000474641.2_RNA	NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1	523						cytoplasm (GO:0005737)|membrane (GO:0016020)				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		GTGACCACTTCTGTGTAGAGT	0.478																																																	0													197.0	204.0	202.0					6																	53787584		2003	4172	6175	SO:0001583	missense	55227			AF332199	CCDS4953.2	6p12.2	2014-07-30	2003-11-19		ENSG00000137269	ENSG00000137269			14307	protein-coding gene	gene with protein product		608195	"""leucine-rich repeat-containing 1"""				Standard	NM_018214		Approved	dJ523E19.1, LANO, FLJ10775, FLJ11834	uc003pcd.1	Q9BTT6	OTTHUMG00000014885	ENST00000370888.1:c.1568C>T	6.37:g.53787584C>T	ENSP00000359925:p.Ser523Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGN3|Q9HAC0|Q9NVF1	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S523F	ENST00000370888.1	37	c.1568	CCDS4953.2	6	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259798	0.80246	.	.	ENSG00000137269	ENST00000370888	T	0.40476	1.03	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	T	0.50034	0.1592	L	0.36672	1.1	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.50996	-0.8761	10	0.72032	D	0.01	.	19.0349	0.92972	0.0:1.0:0.0:0.0	.	523	Q9BTT6	LRRC1_HUMAN	F	523	ENSP00000359925:S523F	ENSP00000359925:S523F	S	+	2	0	LRRC1	53895543	1.000000	0.71417	0.893000	0.35052	0.812000	0.45895	7.312000	0.78968	2.749000	0.94314	0.655000	0.94253	TCT	LRRC1	-	NULL		0.478	LRRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC1	HGNC	protein_coding	OTTHUMT00000040970.2	C	NM_025168		53787584	+1	no_errors	ENST00000370888	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC36	55282	genome.wustl.edu	37	16	67410677	67410677	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:67410677C>T	ENST00000329956.6	+	11	1727	c.1708C>T	c.(1708-1710)Cag>Tag	p.Q570*	LRRC36_ENST00000563189.1_Nonsense_Mutation_p.Q449*|LRRC36_ENST00000435835.3_Intron|LRRC36_ENST00000290940.7_Intron|LRRC36_ENST00000541146.1_Intron	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	570										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		GGCTCCTTCTCAGCCGAGGTG	0.527																																																	0													197.0	179.0	185.0					16																	67410677		2198	4300	6498	SO:0001587	stop_gained	55282			BC026156	CCDS32467.1, CCDS58474.1	16q22.1	2008-02-05				ENSG00000159708			25615	protein-coding gene	gene with protein product						12477932	Standard	NM_001161575		Approved	FLJ11004	uc002esv.3	Q1X8D7		ENST00000329956.6:c.1708C>T	16.37:g.67410677C>T	ENSP00000329943:p.Gln570*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FTV6|A6NDE9|A8K8E6|Q7Z5K5	Nonsense_Mutation	SNP	NULL	p.Q570*	ENST00000329956.6	37	c.1708	CCDS32467.1	16	.	.	.	.	.	.	.	.	.	.	C	33	5.244662	0.95272	.	.	ENSG00000159708	ENST00000329956	.	.	.	5.52	3.55	0.40652	.	0.262866	0.39475	N	0.001344	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-9.525	8.3245	0.32149	0.0:0.8449:0.0:0.1551	.	.	.	.	X	570	.	ENSP00000329943:Q570X	Q	+	1	0	LRRC36	65968178	0.958000	0.32768	1.000000	0.80357	0.944000	0.59088	1.523000	0.35932	2.598000	0.87819	0.655000	0.94253	CAG	LRRC36	-	NULL		0.527	LRRC36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC36	HGNC	protein_coding	OTTHUMT00000421770.1	C	NM_018296		67410677	+1	no_errors	ENST00000329956	ensembl	human	known	70_37	nonsense	SNP	1.000	T
LRRC37B	114659	genome.wustl.edu	37	17	30348320	30348320	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:30348320C>T	ENST00000341671.7	+	1	160	c.155C>T	c.(154-156)tCc>tTc	p.S52F	LRRC37B_ENST00000543378.2_Intron|LRRC37B_ENST00000394713.3_Missense_Mutation_p.S52F|LRRC37B_ENST00000327564.7_Missense_Mutation_p.S79F|LRRC37B_ENST00000584368.1_Missense_Mutation_p.S64F	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	52						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				TCTTCCCGCTCCTCCCATCTC	0.627																																																	0													59.0	68.0	65.0					17																	30348320		2203	4300	6503	SO:0001583	missense	114659			AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.155C>T	17.37:g.30348320C>T	ENSP00000340519:p.Ser52Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RC9|Q5YKG6	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.S52F	ENST00000341671.7	37	c.155	CCDS32609.1	17	.	.	.	.	.	.	.	.	.	.	N	14.06	2.422758	0.43020	.	.	ENSG00000185158	ENST00000327564;ENST00000394713;ENST00000341671	T;T;T	0.71222	-0.55;0.58;-0.53	2.17	2.17	0.27698	.	.	.	.	.	T	0.77857	0.4193	L	0.55481	1.735	0.09310	N	1	D;D	0.65815	0.994;0.995	D;D	0.75484	0.965;0.986	T	0.63166	-0.6698	9	0.72032	D	0.01	.	7.9195	0.29837	0.0:1.0:0.0:0.0	.	52;52	Q17RC9;Q96QE4	.;LR37B_HUMAN	F	79;52;52	ENSP00000332536:S79F;ENSP00000378202:S52F;ENSP00000340519:S52F	ENSP00000332536:S79F	S	+	2	0	LRRC37B	27372433	0.000000	0.05858	0.008000	0.14137	0.181000	0.23173	0.336000	0.19823	1.520000	0.48965	0.299000	0.19835	TCC	LRRC37B	-	NULL		0.627	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC37B	HGNC	protein_coding	OTTHUMT00000446508.1	C	NM_052888		30348320	+1	no_errors	ENST00000341671	ensembl	human	known	70_37	missense	SNP	0.009	T
LRRC37A11P	342666	genome.wustl.edu	37	17	37188200	37188200	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:37188200C>G	ENST00000425901.2	+	0	2042					NR_033753.2				leucine rich repeat containing 37, member A11, pseudogene																		AGACAAGGGTCAGGCTCAGCA	0.488																																																	0																																												342666					17q12	2013-05-14			ENSG00000214553	ENSG00000214553			43815	pseudogene	pseudogene							Standard	NR_033753		Approved		uc002hrd.1		OTTHUMG00000133184		17.37:g.37188200C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000425901.2	37	NULL		17																																																																																			LRRC37A11P	-	-		0.488	LRRC37A11P-002	KNOWN	basic	processed_transcript	LRRC37A11P	HGNC	pseudogene	OTTHUMT00000444105.1	C	NR_033753		37188200	+1	no_errors	ENST00000425901	ensembl	human	known	70_37	rna	SNP	0.003	G
RAD54L	8438	genome.wustl.edu	37	1	46726877	46726877	+	Intron	DEL	T	T	-			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:46726877delT	ENST00000371975.4	+	8	1440				RAD54L_ENST00000473251.1_Intron|RAD54L_ENST00000442598.1_Intron	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)						chromosome organization (GO:0051276)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA strand renaturation (GO:0000733)|double-strand break repair via homologous recombination (GO:0000724)|meiotic nuclear division (GO:0007126)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GTTTTTTTTGTTTTTTTTTTT	0.363								Direct reversal of damage;Homologous recombination																																									0																																										SO:0001627	intron_variant	10489			X97795	CCDS532.1	1p32	2008-02-05	2001-11-28		ENSG00000085999	ENSG00000085999			9826	protein-coding gene	gene with protein product		603615	"""RAD54 (S.cerevisiae)-like"""			8805304	Standard	NM_003579		Approved	hHR54, hRAD54, RAD54A	uc009vye.2	Q92698	OTTHUMG00000007772	ENST00000371975.4:c.767-56T>-	1.37:g.46726877delT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TE31|Q6IUY3	RNA	DEL	-	NULL	ENST00000371975.4	37	NULL	CCDS532.1	1																																																																																			LRRC41	-	-		0.363	RAD54L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC41	HGNC	protein_coding	OTTHUMT00000021272.1	T	NM_003579		46726877	-1	no_errors	ENST00000496156	ensembl	human	known	70_37	rna	DEL	0.001	-
LRRC43	254050	genome.wustl.edu	37	12	122685407	122685407	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:122685407G>A	ENST00000339777.4	+	10	1763	c.1735G>A	c.(1735-1737)Gag>Aag	p.E579K	B3GNT4_ENST00000324189.4_5'Flank|LRRC43_ENST00000425921.1_Missense_Mutation_p.E394K|B3GNT4_ENST00000546192.1_5'Flank|LRRC43_ENST00000537733.1_3'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	579										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GCTCGCCGGGGAGCCCCTGGT	0.667																																																	0													28.0	35.0	33.0					12																	122685407		2008	4155	6163	SO:0001583	missense	254050			AK124107	CCDS45001.1	12q24.31	2014-09-11			ENSG00000158113	ENSG00000158113			28562	protein-coding gene	gene with protein product						12477932	Standard	NM_152759		Approved	MGC35140	uc009zxm.3	Q8N309	OTTHUMG00000168915	ENST00000339777.4:c.1735G>A	12.37:g.122685407G>A	ENSP00000344233:p.Glu579Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZVT9	Missense_Mutation	SNP	NULL	p.E579K	ENST00000339777.4	37	c.1735	CCDS45001.1	12	.	.	.	.	.	.	.	.	.	.	G	19.55	3.849497	0.71603	.	.	ENSG00000158113	ENST00000339777;ENST00000289014;ENST00000425921	T;T	0.65916	-0.18;0.31	5.31	5.31	0.75309	.	0.207655	0.40728	N	0.001022	T	0.78323	0.4265	M	0.76328	2.33	0.33904	D	0.638821	D	0.71674	0.998	D	0.66979	0.948	D	0.85420	0.1142	10	0.72032	D	0.01	-23.7338	16.815	0.85732	0.0:0.0:1.0:0.0	.	579	Q8N309	LRC43_HUMAN	K	579;450;394	ENSP00000344233:E579K;ENSP00000416628:E394K	ENSP00000289014:E450K	E	+	1	0	LRRC43	121251360	1.000000	0.71417	0.995000	0.50966	0.084000	0.17831	4.416000	0.59815	2.493000	0.84123	0.650000	0.86243	GAG	LRRC43	-	NULL		0.667	LRRC43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC43	HGNC	protein_coding	OTTHUMT00000401589.1	G	NM_152759		122685407	+1	no_errors	ENST00000339777	ensembl	human	known	70_37	missense	SNP	0.999	A
LRRC8B	23507	genome.wustl.edu	37	1	90058471	90058471	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:90058471G>A	ENST00000330947.2	+	6	2641	c.2281G>A	c.(2281-2283)Gaa>Aaa	p.E761K	RP5-1007M22.2_ENST00000443562.1_RNA|LRRC8B_ENST00000358200.4_Missense_Mutation_p.E761K|LRRC8B_ENST00000439853.1_Missense_Mutation_p.E761K	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	761					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAATTACCTGGAAACACTTCC	0.438																																																	0													144.0	132.0	136.0					1																	90058471		2203	4300	6503	SO:0001583	missense	23507			AF385436	CCDS724.1	1p22.2	2008-02-05			ENSG00000197147	ENSG00000197147			30692	protein-coding gene	gene with protein product	"""T cell activation leucine repeat rich protein"""	612888				9039502	Standard	NM_015350		Approved	TA-LRRP, KIAA0231	uc001dni.3	Q6P9F7	OTTHUMG00000010129	ENST00000330947.2:c.2281G>A	1.37:g.90058471G>A	ENSP00000332674:p.Glu761Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT28|Q6UY21|Q8N106|Q92627	Missense_Mutation	SNP	pfam_LRR_protein-8_N,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.E761K	ENST00000330947.2	37	c.2281	CCDS724.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.891692	0.97074	.	.	ENSG00000197147	ENST00000330947;ENST00000358200;ENST00000439853	T;T;T	0.00940	5.52;5.52;5.52	6.06	6.06	0.98353	.	0.000000	0.64402	D	0.000003	T	0.01730	0.0055	L	0.28776	0.89	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.79642	-0.1718	9	.	.	.	.	20.6397	0.99537	0.0:0.0:1.0:0.0	.	761	Q6P9F7	LRC8B_HUMAN	K	761	ENSP00000332674:E761K;ENSP00000350933:E761K;ENSP00000400704:E761K	.	E	+	1	0	LRRC8B	89831059	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.318000	0.96334	2.880000	0.98712	0.650000	0.86243	GAA	LRRC8B	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.438	LRRC8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC8B	HGNC	protein_coding	OTTHUMT00000028008.1	G	NM_015350		90058471	+1	no_errors	ENST00000330947	ensembl	human	known	70_37	missense	SNP	1.000	A
LRRN1	57633	genome.wustl.edu	37	3	3886887	3886887	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:3886887G>C	ENST00000319331.3	+	2	1323	c.562G>C	c.(562-564)Gat>Cat	p.D188H	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	188						integral component of membrane (GO:0016021)				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TCGCTGGTTTGATTCTACACC	0.388																																																	0													106.0	114.0	111.0					3																	3886887		2203	4300	6503	SO:0001583	missense	57633			AB040930	CCDS33685.1	3p26.2	2013-01-11			ENSG00000175928	ENSG00000175928		"""Immunoglobulin superfamily / I-set domain containing"""	20980	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 3"""					10819331	Standard	NM_020873		Approved	FIGLER3	uc003bpt.4	Q6UXK5	OTTHUMG00000154934	ENST00000319331.3:c.562G>C	3.37:g.3886887G>C	ENSP00000314901:p.Asp188His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3LID5|Q8IYV5|Q9H8V1|Q9P231	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D188H	ENST00000319331.3	37	c.562	CCDS33685.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.298546	0.81025	.	.	ENSG00000175928	ENST00000319331	T	0.24538	1.85	5.67	5.67	0.87782	.	0.103021	0.64402	D	0.000003	T	0.29716	0.0742	N	0.20881	0.62	0.58432	D	0.999999	P	0.46142	0.873	P	0.49140	0.601	T	0.01617	-1.1311	10	0.48119	T	0.1	.	19.7686	0.96352	0.0:0.0:1.0:0.0	.	188	Q6UXK5	LRRN1_HUMAN	H	188	ENSP00000314901:D188H	ENSP00000314901:D188H	D	+	1	0	LRRN1	3861887	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	9.787000	0.99055	2.665000	0.90641	0.591000	0.81541	GAT	LRRN1	-	smart_Leu-rich_rpt_typical-subtyp		0.388	LRRN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRN1	HGNC	protein_coding	OTTHUMT00000337704.2	G	NM_020873		3886887	+1	no_errors	ENST00000319331	ensembl	human	known	70_37	missense	SNP	1.000	C
LSAMP	4045	genome.wustl.edu	37	3	115560818	115560818	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:115560818C>G	ENST00000490035.2	-	6	1292	c.793G>C	c.(793-795)Gag>Cag	p.E265Q	LSAMP_ENST00000539563.1_Missense_Mutation_p.E262Q|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	265	Ig-like C2-type 3.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CTCTTAATCTCAAGGCCATTG	0.483																																																	0													95.0	85.0	88.0					3																	115560818		2203	4300	6503	SO:0001583	missense	4045			U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.793G>C	3.37:g.115560818C>G	ENSP00000419000:p.Glu265Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IV49	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E265Q	ENST00000490035.2	37	c.793	CCDS2982.1	3	.	.	.	.	.	.	.	.	.	.	C	21.4	4.146925	0.77888	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563	T;T;T	0.66638	-0.22;-0.22;-0.22	5.87	5.87	0.94306	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.098261	0.64402	D	0.000001	T	0.66528	0.2798	L	0.31065	0.9	0.45914	D	0.998754	D;B	0.53312	0.959;0.298	P;B	0.50049	0.629;0.166	T	0.64188	-0.6466	10	0.37606	T	0.19	-11.3279	20.206	0.98277	0.0:1.0:0.0:0.0	.	265;265	B2RCU8;Q13449	.;LSAMP_HUMAN	Q	249;265;262	ENSP00000328455:E249Q;ENSP00000419000:E265Q;ENSP00000443429:E262Q	ENSP00000328455:E249Q	E	-	1	0	LSAMP	117043508	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.093000	0.41710	2.785000	0.95823	0.655000	0.94253	GAG	LSAMP	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.483	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LSAMP	HGNC	protein_coding	OTTHUMT00000354495.4	C	NM_002338		115560818	-1	no_errors	ENST00000490035	ensembl	human	known	70_37	missense	SNP	1.000	G
LSM6	11157	genome.wustl.edu	37	4	147110796	147110796	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:147110796G>C	ENST00000502781.1	+	4	950	c.231G>C	c.(229-231)aaG>aaC	p.K77N	LSM6_ENST00000296581.5_Missense_Mutation_p.K77N			P62312	LSM6_HUMAN	LSM6 homolog, U6 small nuclear RNA associated (S. cerevisiae)	77					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|rRNA processing (GO:0006364)|tRNA processing (GO:0008033)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|small nuclear ribonucleoprotein complex (GO:0030532)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)					all_hematologic(180;0.151)					GTACACAGAAGAGACGGATGT	0.294																																					Ovarian(181;1591 2748 12147 31551)												0													71.0	79.0	76.0					4																	147110796		2203	4299	6502	SO:0001583	missense	11157			AF182292	CCDS3767.1	4q31.21	2008-02-05				ENSG00000164167			17017	protein-coding gene	gene with protein product		607286				10369684, 10523320	Standard	NM_007080		Approved	YDR378C	uc003ikq.4	P62312		ENST00000502781.1:c.231G>C	4.37:g.147110796G>C	ENSP00000422392:p.Lys77Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5J5|Q9Y4Y8	Missense_Mutation	SNP	pfam_Ribonucl_LSM,superfamily_LSM_dom,smart_Ribonucl_LSM_euk/arc	p.K77N	ENST00000502781.1	37	c.231	CCDS3767.1	4	.	.	.	.	.	.	.	.	.	.	G	22.7	4.330741	0.81690	.	.	ENSG00000164167	ENST00000296581;ENST00000515311;ENST00000502781;ENST00000504181	.	.	.	6.02	6.02	0.97574	Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.58424	0.2121	.	.	.	0.80722	D	1	B	0.31054	0.306	B	0.29353	0.101	T	0.53627	-0.8412	8	0.38643	T	0.18	-23.1011	20.5407	0.99260	0.0:0.0:1.0:0.0	.	77	P62312	LSM6_HUMAN	N	77	.	ENSP00000296581:K77N	K	+	3	2	LSM6	147330246	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.460000	0.66691	2.865000	0.98341	0.655000	0.94253	AAG	LSM6	-	superfamily_LSM_dom		0.294	LSM6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	LSM6	HGNC	protein_coding	OTTHUMT00000364929.1	G			147110796	+1	no_errors	ENST00000296581	ensembl	human	known	70_37	missense	SNP	1.000	C
LTBP3	4054	genome.wustl.edu	37	11	65308423	65308423	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:65308423C>T	ENST00000301873.5	-	21	3164	c.2896G>A	c.(2896-2898)Gag>Aag	p.E966K	LTBP3_ENST00000532932.1_Missense_Mutation_p.E396K|LTBP3_ENST00000530785.1_5'UTR|LTBP3_ENST00000322147.4_Missense_Mutation_p.E966K|LTBP3_ENST00000529189.1_5'UTR|LTBP3_ENST00000536982.1_Missense_Mutation_p.E592K	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	966	TB 3.				bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|extracellular matrix organization (GO:0030198)|lung saccule development (GO:0060430)|negative regulation of bone mineralization (GO:0030502)|negative regulation of chondrocyte differentiation (GO:0032331)|positive regulation of bone resorption (GO:0045780)|positive regulation of mesenchymal stem cell differentiation (GO:2000741)|positive regulation of mesenchymal stem cell proliferation (GO:1902462)|transforming growth factor beta activation (GO:0036363)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CTGTGGAACTCGGCTGCAGGG	0.677											OREG0021080	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													89.0	77.0	81.0					11																	65308423		2201	4297	6498	SO:0001583	missense	4054			AF135960	CCDS8103.1, CCDS44647.1	11q12	2011-10-20			ENSG00000168056	ENSG00000168056		"""Latent transforming growth factor, beta binding proteins"""	6716	protein-coding gene	gene with protein product		602090		LTBP2		7719025	Standard	NM_001164266		Approved		uc001oej.3	Q9NS15	OTTHUMG00000166575	ENST00000301873.5:c.2896G>A	11.37:g.65308423C>T	ENSP00000301873:p.Glu966Lys	Somatic	1083	WXS	Illumina HiSeq	Phase_IV	O15107|Q96HB9|Q9H7K2|Q9UFN4	Missense_Mutation	SNP	pfam_EGF-like_Ca-bd,pfam_TB_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom	p.E966K	ENST00000301873.5	37	c.2896	CCDS44647.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.6|23.6	4.440434|4.440434	0.83993|0.83993	.|.	.|.	ENSG00000168056|ENSG00000168056	ENST00000322147;ENST00000301873;ENST00000532932;ENST00000536982;ENST00000530866|ENST00000526927	D;D;D;D;D|.	0.94046|.	-3.34;-3.34;-3.34;-3.34;-3.34|.	4.45|4.45	4.45|4.45	0.53987|0.53987	Matrix fibril-associated (3);TGF-beta binding (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.79811|0.79811	0.4510|0.4510	M|M	0.88241|0.88241	2.94|2.94	0.58432|0.58432	D|D	0.999999|0.999999	P;D;P;P;D;P|.	0.57571|.	0.84;0.98;0.956;0.706;0.98;0.924|.	B;B;B;B;P;B|.	0.44518|.	0.142;0.327;0.261;0.153;0.452;0.343|.	D|D	0.83760|0.83760	0.0214|0.0214	10|5	0.10636|.	T|.	0.68|.	.|.	14.5688|14.5688	0.68197|0.68197	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	877;592;849;966;966;396|.	E9PKW1;F5GWC4;B9EG76;Q9NS15;Q9NS15-2;E9PJR2|.	.;.;.;LTBP3_HUMAN;.;.|.	K|Q	966;966;396;592;877|616	ENSP00000326647:E966K;ENSP00000301873:E966K;ENSP00000435530:E396K;ENSP00000441912:E592K;ENSP00000435276:E877K|.	ENSP00000301873:E966K|.	E|R	-|-	1|2	0|0	LTBP3|LTBP3	65064999|65064999	1.000000|1.000000	0.71417|0.71417	0.952000|0.952000	0.39060|0.39060	0.496000|0.496000	0.33645|0.33645	4.904000|4.904000	0.63279|0.63279	2.025000|2.025000	0.59659|0.59659	0.455000|0.455000	0.32223|0.32223	GAG|CGA	LTBP3	-	pfam_TB_dom,superfamily_TB_dom		0.677	LTBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LTBP3	HGNC	protein_coding	OTTHUMT00000390538.1	C	NM_021070		65308423	-1	no_errors	ENST00000301873	ensembl	human	known	70_37	missense	SNP	0.998	T
MACF1	23499	genome.wustl.edu	37	1	39735230	39735230	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:39735230G>C	ENST00000372915.3	+	5	630				MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000536367.1_Intron|MACF1_ENST00000567887.1_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGTGACTGTGAGCATTTTGC	0.527																																																	0																																										SO:0001627	intron_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.543+11530G>C	1.37:g.39735230G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain	p.V287	ENST00000372915.3	37	c.861		1																																																																																			MACF1	-	NULL		0.527	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39735230	+1	no_errors	ENST00000496804	ensembl	human	known	70_37	silent	SNP	0.977	C
MADCAM1	8174	genome.wustl.edu	37	19	498693	498693	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:498693G>T	ENST00000215637.3	+	3	581	c.535G>T	c.(535-537)Gag>Tag	p.E179*	MADCAM1_ENST00000382683.4_Nonsense_Mutation_p.E84*|MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000346144.4_Nonsense_Mutation_p.E179*|AC005775.2_ENST00000592413.1_RNA	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	179	Ig-like 2.				aging (GO:0007568)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|embryo development (GO:0009790)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)|keratinocyte differentiation (GO:0030216)|leukocyte tethering or rolling (GO:0050901)|positive regulation of leukocyte migration (GO:0002687)|receptor clustering (GO:0043113)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	integrin binding involved in cell-matrix adhesion (GO:0098640)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCAGGGGGACGAGGACGTGCT	0.731																																																	0													7.0	8.0	8.0					19																	498693		2140	4223	6363	SO:0001587	stop_gained	8174			U43628	CCDS12028.1, CCDS12029.1	19p13.3	2013-01-11			ENSG00000099866	ENSG00000099866		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6765	protein-coding gene	gene with protein product	"""mucosal addressin cell adhesion molecule-1"""	102670				9162097, 8609404	Standard	NM_130762		Approved	MACAM1	uc002los.3	Q13477	OTTHUMG00000180548	ENST00000215637.3:c.535G>T	19.37:g.498693G>T	ENSP00000215637:p.Glu179*	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV4|B2RPL9|O60222|O75867|Q5UGI7	Nonsense_Mutation	SNP	pfam_Adhes-Ig-like,smart_Ig_sub,pfscan_Ig-like	p.E179*	ENST00000215637.3	37	c.535	CCDS12028.1	19	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775194	0.31411	.	.	ENSG00000099866	ENST00000537731;ENST00000542525;ENST00000543297;ENST00000215637;ENST00000346144;ENST00000382683	.	.	.	3.69	2.57	0.30868	.	1.372870	0.04636	N	0.404582	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.42905	T	0.14	-16.9674	8.1521	0.31148	0.0:0.2753:0.7247:0.0	.	.	.	.	X	179;179;179;179;179;84	.	ENSP00000215637:E179X	E	+	1	0	MADCAM1	449693	0.966000	0.33281	0.108000	0.21378	0.008000	0.06430	1.728000	0.38105	1.912000	0.55364	0.561000	0.74099	GAG	MADCAM1	-	pfam_Adhes-Ig-like		0.731	MADCAM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MADCAM1	HGNC	protein_coding	OTTHUMT00000451884.1	G	NM_130760		498693	+1	no_errors	ENST00000215637	ensembl	human	known	70_37	nonsense	SNP	0.053	T
MADD	8567	genome.wustl.edu	37	11	47306884	47306884	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:47306884C>T	ENST00000311027.5	+	14	2576				MADD_ENST00000395344.3_Intron|MADD_ENST00000402799.1_Intron|MADD_ENST00000402192.2_Intron|MADD_ENST00000349238.3_Intron|MADD_ENST00000406482.1_Intron|MADD_ENST00000407859.3_Intron|MADD_ENST00000342922.4_Intron|MADD_ENST00000395336.3_Intron	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GTGTTCTGATCCAGGGGCTTA	0.527																																																	0																																										SO:0001627	intron_variant	8567			AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.2412-118C>T	11.37:g.47306884C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000311027.5	37	NULL	CCDS7930.1	11																																																																																			MADD	-	-		0.527	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MADD	HGNC	protein_coding	OTTHUMT00000317746.1	C			47306884	+1	no_errors	ENST00000524686	ensembl	human	known	70_37	rna	SNP	0.000	T
MAGEB17	645864	genome.wustl.edu	37	X	16188680	16188680	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:16188680C>T	ENST00000400004.2	+	2	527	c.175C>T	c.(175-177)Cct>Tct	p.P59S	MAGEB17_ENST00000400003.1_Missense_Mutation_p.P59S|RP11-431J24.2_ENST00000435789.1_RNA|MAGEB17_ENST00000329538.5_Missense_Mutation_p.P59S	NM_001277307.1	NP_001264236.1	A8MXT2	MAGBH_HUMAN	melanoma antigen family B, 17	59																	TGCAGGCATTCCTCAGGAGTC	0.587																																																	0																																										SO:0001583	missense	645864				CCDS59524.1	Xp22.2	2010-05-26	2005-11-07		ENSG00000182798	ENSG00000182798			17418	protein-coding gene	gene with protein product		300763	"""melanoma antigen family B, 17 (pseudogene)"""			11454705	Standard	NM_001277307		Approved		uc031tgu.1	A8MXT2	OTTHUMG00000021188	ENST00000400004.2:c.175C>T	X.37:g.16188680C>T	ENSP00000382884:p.Pro59Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE98	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.P59S	ENST00000400004.2	37	c.175	CCDS59524.1	X	.	.	.	.	.	.	.	.	.	.	C	11.15	1.555029	0.27739	.	.	ENSG00000182798	ENST00000400004;ENST00000400003;ENST00000329538	T;T;T	0.09073	3.02;3.02;3.02	2.56	2.56	0.30785	.	.	.	.	.	T	0.11153	0.0272	L	0.52759	1.655	0.09310	N	1	.	.	.	.	.	.	T	0.19257	-1.0311	7	0.30854	T	0.27	.	7.8254	0.29311	0.0:1.0:0.0:0.0	.	.	.	.	S	59	ENSP00000382884:P59S;ENSP00000382883:P59S;ENSP00000328274:P59S	ENSP00000328274:P59S	P	+	1	0	MAGEB17	16098601	0.000000	0.05858	0.002000	0.10522	0.017000	0.09413	-0.334000	0.07883	1.552000	0.49463	0.513000	0.50165	CCT	MAGEB17	-	pfam_Melanoma_ass_antigen_N		0.587	MAGEB17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB17	HGNC	protein_coding	OTTHUMT00000251018.2	C	XM_066701		16188680	+1	no_errors	ENST00000400003	ensembl	human	known	70_37	missense	SNP	0.002	T
MAGEB17	645864	genome.wustl.edu	37	X	16188732	16188732	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:16188732C>G	ENST00000400004.2	+	2	579	c.227C>G	c.(226-228)tCa>tGa	p.S76*	MAGEB17_ENST00000400003.1_Nonsense_Mutation_p.S76*|RP11-431J24.2_ENST00000435789.1_RNA|MAGEB17_ENST00000329538.5_Nonsense_Mutation_p.S76*	NM_001277307.1	NP_001264236.1	A8MXT2	MAGBH_HUMAN	melanoma antigen family B, 17	76																	TCAGCTGTTTCACTCACAAGT	0.567																																																	0																																										SO:0001587	stop_gained	645864				CCDS59524.1	Xp22.2	2010-05-26	2005-11-07		ENSG00000182798	ENSG00000182798			17418	protein-coding gene	gene with protein product		300763	"""melanoma antigen family B, 17 (pseudogene)"""			11454705	Standard	NM_001277307		Approved		uc031tgu.1	A8MXT2	OTTHUMG00000021188	ENST00000400004.2:c.227C>G	X.37:g.16188732C>G	ENSP00000382884:p.Ser76*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE98	Nonsense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.S76*	ENST00000400004.2	37	c.227	CCDS59524.1	X	.	.	.	.	.	.	.	.	.	.	C	11.94	1.788415	0.31685	.	.	ENSG00000182798	ENST00000400004;ENST00000400003;ENST00000329538	.	.	.	2.33	1.46	0.22682	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.34782	T	0.22	.	4.5381	0.12043	0.0:0.8012:0.0:0.1988	.	.	.	.	X	76	.	ENSP00000328274:S76X	S	+	2	0	MAGEB17	16098653	0.005000	0.15991	0.001000	0.08648	0.001000	0.01503	0.619000	0.24388	0.420000	0.25954	0.513000	0.50165	TCA	MAGEB17	-	pfam_Melanoma_ass_antigen_N		0.567	MAGEB17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB17	HGNC	protein_coding	OTTHUMT00000251018.2	C	XM_066701		16188732	+1	no_errors	ENST00000400003	ensembl	human	known	70_37	nonsense	SNP	0.001	G
MAGEB3	4114	genome.wustl.edu	37	X	30254171	30254171	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:30254171C>G	ENST00000361644.2	+	5	867	c.130C>G	c.(130-132)Ctt>Gtt	p.L44V		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	44										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						TTCATCCCCTCTTATTTTGGG	0.493																																																	0													47.0	39.0	41.0					X																	30254171		2202	4300	6502	SO:0001583	missense	4114			AK057441	CCDS14220.1	Xp21.3	2009-03-17			ENSG00000198798	ENSG00000198798			6810	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 5"""	300152				9441743	Standard	NM_002365		Approved	CT3.5	uc004dca.2	O15480	OTTHUMG00000021320	ENST00000361644.2:c.130C>G	X.37:g.30254171C>G	ENSP00000355198:p.Leu44Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVE4|B3KQ52|O75861	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.L44V	ENST00000361644.2	37	c.130	CCDS14220.1	X	.	.	.	.	.	.	.	.	.	.	C	0.438	-0.899836	0.02472	.	.	ENSG00000198798	ENST00000378986;ENST00000361644	T;T	0.04317	3.65;3.65	3.98	-2.46	0.06461	Melanoma associated antigen, MAGE, N-terminal (1);	.	.	.	.	T	0.01765	0.0056	N	0.02865	-0.47	0.09310	N	1	B	0.14012	0.009	B	0.20384	0.029	T	0.48670	-0.9015	9	0.13470	T	0.59	.	5.3307	0.15930	0.0:0.2586:0.444:0.2975	.	44	O15480	MAGB3_HUMAN	V	44	ENSP00000368271:L44V;ENSP00000355198:L44V	ENSP00000355198:L44V	L	+	1	0	MAGEB3	30164092	0.001000	0.12720	0.000000	0.03702	0.000000	0.00434	0.242000	0.18087	-0.788000	0.04504	-0.503000	0.04515	CTT	MAGEB3	-	pfam_Melanoma_ass_antigen_N		0.493	MAGEB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB3	HGNC	protein_coding	OTTHUMT00000056158.2	C	NM_002365		30254171	+1	no_errors	ENST00000361644	ensembl	human	known	70_37	missense	SNP	0.000	G
MAGEB4	4115	genome.wustl.edu	37	X	30260591	30260591	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:30260591G>A	ENST00000378982.2	+	1	535	c.339G>A	c.(337-339)acG>acA	p.T113T	MAGEB1_ENST00000397550.1_5'Flank|MAGEB1_ENST00000378981.3_5'Flank	NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	113	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGGAAGACGAAGATGTTAG	0.443																																																	0													54.0	40.0	44.0					X																	30260591		2202	4300	6502	SO:0001819	synonymous_variant	4115				CCDS14221.1	Xp21.3	2009-03-17			ENSG00000120289	ENSG00000120289			6811	protein-coding gene	gene with protein product	"""melanoma-associated antigen B4"", ""cancer/testis antigen family 3, member 6"""	300153				9441743	Standard	NM_002367		Approved	MGC33144, CT3.6	uc004dcb.3	O15481	OTTHUMG00000021321	ENST00000378982.2:c.339G>A	X.37:g.30260591G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9G0|Q6FHH4|Q8IZ00	Silent	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.T113	ENST00000378982.2	37	c.339	CCDS14221.1	X																																																																																			MAGEB4	-	pfscan_MAGE		0.443	MAGEB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB4	HGNC	protein_coding	OTTHUMT00000056159.1	G	NM_002367		30260591	+1	no_errors	ENST00000378982	ensembl	human	known	70_37	silent	SNP	0.000	A
MAGEE1	57692	genome.wustl.edu	37	X	75649011	75649011	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:75649011G>A	ENST00000361470.2	+	1	966	c.688G>A	c.(688-690)Gag>Aag	p.E230K		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	230	Pro-rich.					dendrite (GO:0030425)|dystrophin-associated glycoprotein complex (GO:0016010)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACTCCTGATGAGGGACCGAG	0.706																																																	0													21.0	20.0	21.0					X																	75649011		2199	4292	6491	SO:0001583	missense	57692			AF490507	CCDS14433.1	Xq13	2008-02-05			ENSG00000198934	ENSG00000198934			24934	protein-coding gene	gene with protein product		300759				14623885	Standard	NM_020932		Approved	KIAA1587, DAMAGE	uc004ecm.2	Q9HCI5	OTTHUMG00000021879	ENST00000361470.2:c.688G>A	X.37:g.75649011G>A	ENSP00000354912:p.Glu230Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXC7|Q86TG0|Q8TD92|Q9H216	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.E230K	ENST00000361470.2	37	c.688	CCDS14433.1	X	.	.	.	.	.	.	.	.	.	.	G	14.01	2.407774	0.42715	.	.	ENSG00000198934	ENST00000361470	T	0.16196	2.36	2.19	1.27	0.21489	.	.	.	.	.	T	0.08403	0.0209	L	0.32530	0.975	0.09310	N	1	P	0.40731	0.728	B	0.26770	0.073	T	0.26608	-1.0098	9	0.30854	T	0.27	.	4.6174	0.12433	0.2047:0.0:0.7953:0.0	.	230	Q9HCI5	MAGE1_HUMAN	K	230	ENSP00000354912:E230K	ENSP00000354912:E230K	E	+	1	0	MAGEE1	75565415	0.000000	0.05858	0.040000	0.18447	0.124000	0.20399	0.154000	0.16343	0.321000	0.23259	0.544000	0.68410	GAG	MAGEE1	-	NULL		0.706	MAGEE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEE1	HGNC	protein_coding	OTTHUMT00000057298.1	G	NM_020932		75649011	+1	no_errors	ENST00000361470	ensembl	human	known	70_37	missense	SNP	0.014	A
MAGI3	260425	genome.wustl.edu	37	1	114165510	114165510	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:114165510G>C	ENST00000307546.9	+	9	1329	c.1254G>C	c.(1252-1254)atG>atC	p.M418I	MAGI3_ENST00000369617.4_Missense_Mutation_p.M443I|MAGI3_ENST00000369615.1_Missense_Mutation_p.M418I|MAGI3_ENST00000369611.4_Missense_Mutation_p.M418I	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	443					apoptotic process (GO:0006915)|intracellular signal transduction (GO:0035556)|nucleotide phosphorylation (GO:0046939)|positive regulation of JUN kinase activity (GO:0043507)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAAGCACAATGGGATTTGGTT	0.413																																																	0													105.0	98.0	100.0					1																	114165510		2203	4300	6503	SO:0001583	missense	260425			AF213259	CCDS860.1, CCDS44196.1	1p12-p11.2	2008-02-05			ENSG00000081026	ENSG00000081026			29647	protein-coding gene	gene with protein product		615943				10997877, 10748157	Standard	NM_152900		Approved	MAGI-3	uc001edk.3	Q5TCQ9	OTTHUMG00000011737	ENST00000307546.9:c.1254G>C	1.37:g.114165510G>C	ENSP00000304604:p.Met418Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCQ8|Q5TCR0|Q9H2V6|Q9H5Y8|Q9HBC4|Q9HCD8	Missense_Mutation	SNP	pfam_PDZ,pfam_WW_Rsp5_WWP,pfam_Guanylate_kin,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_Guanylate_kin/L-typ_Ca_channel,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP,pfscan_Guanylate_kin	p.M418I	ENST00000307546.9	37	c.1254	CCDS44196.1	1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.365067	0.82463	.	.	ENSG00000081026	ENST00000369617;ENST00000307546;ENST00000369615;ENST00000369611	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.77	5.77	0.91146	.	0.075866	0.85682	D	0.000000	T	0.26304	0.0642	L	0.28344	0.845	0.80722	D	1	P;B;P	0.44946	0.846;0.27;0.673	P;B;P	0.54460	0.753;0.23;0.691	T	0.02115	-1.1211	10	0.59425	D	0.04	-20.6275	19.9981	0.97395	0.0:0.0:1.0:0.0	.	418;418;443	Q5TCQ9-4;Q5TCQ9-3;Q5TCQ9-2	.;.;.	I	443;418;418;418	ENSP00000358630:M443I;ENSP00000304604:M418I;ENSP00000358628:M418I;ENSP00000358624:M418I	ENSP00000304604:M418I	M	+	3	0	MAGI3	113967033	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.729000	0.93468	0.655000	0.94253	ATG	MAGI3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.413	MAGI3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	MAGI3	HGNC	protein_coding	OTTHUMT00000032429.1	G	NM_152900		114165510	+1	no_errors	ENST00000369611	ensembl	human	known	70_37	missense	SNP	1.000	C
MAK	4117	genome.wustl.edu	37	6	10796315	10796315	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:10796315C>G	ENST00000313243.2	-	9	1441	c.1059G>C	c.(1057-1059)ctG>ctC	p.L353L	RP11-637O19.3_ENST00000480294.1_Intron|MAK_ENST00000538030.1_Silent_p.L353L|MAK_ENST00000354489.2_Silent_p.L353L|MAK_ENST00000474039.1_Silent_p.L353L|SYCP2L_ENST00000543878.1_Intron|MAK_ENST00000536370.1_3'UTR			P20794	MAK_HUMAN	male germ cell-associated kinase	353	Glu/Pro-rich.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|photoreceptor cell maintenance (GO:0045494)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleus (GO:0005634)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)	22	Breast(50;0.107)|Ovarian(93;0.107)	all_hematologic(90;0.117)				GCTGGACGCTCAGGTTCTGTG	0.532																																																	0													169.0	186.0	181.0					6																	10796315		2203	4300	6503	SO:0001819	synonymous_variant	4117				CCDS4516.1, CCDS75398.1, CCDS75399.1	6p24.2	2014-01-28			ENSG00000111837	ENSG00000111837			6816	protein-coding gene	gene with protein product		154235				16951154	Standard	NM_005906		Approved	dJ417M14.2, RP62	uc021ylk.1	P20794	OTTHUMG00000014247	ENST00000313243.2:c.1059G>C	6.37:g.10796315C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	F1T0K6|G1FL29|Q547D0|Q9NUH7	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L353	ENST00000313243.2	37	c.1059	CCDS4516.1	6																																																																																			MAK	-	NULL		0.532	MAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK	HGNC	protein_coding	OTTHUMT00000039841.1	C	NM_005906		10796315	-1	no_errors	ENST00000313243	ensembl	human	known	70_37	silent	SNP	0.000	G
MAK16	84549	genome.wustl.edu	37	8	33354807	33354807	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:33354807G>A	ENST00000360128.6	+	9	1154	c.697G>A	c.(697-699)Gat>Aat	p.D233N	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	233	Asp-rich.					nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						TGACATAAGTGATTTTGAGGT	0.383																																																	0													201.0	206.0	204.0					8																	33354807		2203	4300	6503	SO:0001583	missense	84549			AF251062	CCDS6089.1	8p12	2011-10-13	2008-06-04	2008-06-04	ENSG00000198042	ENSG00000198042		"""RNA binding motif (RRM) containing"""	13703	protein-coding gene	gene with protein product			"""RNA binding motif protein 13"""	RBM13			Standard	NM_032509		Approved	MAK16L	uc003xjj.3	Q9BXY0	OTTHUMG00000163957	ENST00000360128.6:c.697G>A	8.37:g.33354807G>A	ENSP00000353246:p.Asp233Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB44|Q5U5T1|Q86UC4|Q96SY6	Missense_Mutation	SNP	pfam_Mak16,pirsf_Mak16	p.D233N	ENST00000360128.6	37	c.697	CCDS6089.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.549947	0.96501	.	.	ENSG00000198042	ENST00000360128	T	0.58506	0.33	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	T	0.80560	0.4646	M	0.88640	2.97	0.80722	D	1	D	0.76494	0.999	D	0.67382	0.951	T	0.83227	-0.0065	10	0.72032	D	0.01	-22.0825	19.7072	0.96079	0.0:0.0:1.0:0.0	.	233	Q9BXY0	MAK16_HUMAN	N	233	ENSP00000353246:D233N	ENSP00000353246:D233N	D	+	1	0	MAK16	33474349	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.650000	0.91073	2.760000	0.94817	0.563000	0.77884	GAT	MAK16	-	pfam_Mak16,pirsf_Mak16		0.383	MAK16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAK16	HGNC	protein_coding	OTTHUMT00000376559.3	G	NM_032509		33354807	+1	no_errors	ENST00000360128	ensembl	human	known	70_37	missense	SNP	1.000	A
MAP2	4133	genome.wustl.edu	37	2	210543385	210543385	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:210543385G>C	ENST00000360351.4	+	5	858	c.352G>C	c.(352-354)Gac>Cac	p.D118H	MAP2_ENST00000392194.1_Missense_Mutation_p.D118H|MAP2_ENST00000199940.6_Missense_Mutation_p.D118H|MAP2_ENST00000361559.4_Missense_Mutation_p.D118H|MAP2_ENST00000447185.1_Missense_Mutation_p.D118H	NM_002374.3	NP_002365.3	P11137	MTAP2_HUMAN	microtubule-associated protein 2	118					axonogenesis (GO:0007409)|cellular response to organic substance (GO:0071310)|central nervous system neuron development (GO:0021954)|dendrite morphogenesis (GO:0048813)|microtubule bundle formation (GO:0001578)|neuron projection development (GO:0031175)	cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuronal cell body (GO:0043025)|nuclear periphery (GO:0034399)	dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Docetaxel(DB01248)|Estramustine(DB01196)|Paclitaxel(DB01229)	TCAACATAAAGACCAGACTGC	0.438																																					Pancreas(27;423 979 28787 29963)												0													111.0	104.0	106.0					2																	210543385		2203	4300	6503	SO:0001583	missense	4133				CCDS2384.1, CCDS2385.1, CCDS33369.1	2q34-q35	2008-05-27			ENSG00000078018	ENSG00000078018		"""A-kinase anchor proteins"""	6839	protein-coding gene	gene with protein product		157130				3103857, 7479905	Standard	XM_005246554		Approved	MAP2A, MAP2B, MAP2C	uc002vde.1	P11137	OTTHUMG00000132962	ENST00000360351.4:c.352G>C	2.37:g.210543385G>C	ENSP00000353508:p.Asp118His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q17S04|Q8IUX2|Q99975|Q99976	Missense_Mutation	SNP	pfam_MAP2_projctn,pfam_Tau/MAP_tubulin-bd_rpt	p.D118H	ENST00000360351.4	37	c.352	CCDS2384.1	2	.	.	.	.	.	.	.	.	.	.	G	23.3	4.405398	0.83230	.	.	ENSG00000078018	ENST00000199940;ENST00000360351;ENST00000361559;ENST00000445941;ENST00000392194;ENST00000447185;ENST00000452717	T;T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99;1.99	5.06	5.06	0.68205	.	0.220166	0.31156	N	0.008148	T	0.31575	0.0801	N	0.14661	0.345	0.43662	D	0.996088	D;P;D;B;D;D	0.89917	1.0;0.729;0.998;0.38;1.0;0.999	D;P;P;B;D;D	0.97110	1.0;0.526;0.861;0.122;0.999;0.936	T	0.25779	-1.0122	10	0.46703	T	0.11	-8.0202	18.4525	0.90709	0.0:0.0:1.0:0.0	.	118;118;119;118;118;118	P11137-3;P11137-2;Q59FX9;E7EV03;P11137;Q8IUX2	.;.;.;.;MAP2_HUMAN;.	H	118;118;118;118;118;118;44	ENSP00000199940:D118H;ENSP00000353508:D118H;ENSP00000355290:D118H;ENSP00000409969:D118H;ENSP00000376032:D118H;ENSP00000392164:D118H;ENSP00000388824:D44H	ENSP00000199940:D118H	D	+	1	0	MAP2	210251630	1.000000	0.71417	0.908000	0.35775	0.881000	0.50899	5.363000	0.66104	2.324000	0.78689	0.655000	0.94253	GAC	MAP2	-	NULL		0.438	MAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAP2	HGNC	protein_coding	OTTHUMT00000256521.2	G	NM_001039538		210543385	+1	no_errors	ENST00000360351	ensembl	human	known	70_37	missense	SNP	1.000	C
MAP3K10	4294	genome.wustl.edu	37	19	40698214	40698214	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:40698214G>A	ENST00000253055.3	+	1	564	c.276G>A	c.(274-276)gaG>gaA	p.E92E	MAP3K10_ENST00000593906.1_3'UTR	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	92					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						TGCCCCAGGAGATCCCCTTCC	0.711																																																	0													14.0	17.0	16.0					19																	40698214		2194	4297	6491	SO:0001819	synonymous_variant	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.276G>A	19.37:g.40698214G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q12761|Q14871	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.E92	ENST00000253055.3	37	c.276	CCDS12549.1	19																																																																																			MAP3K10	-	pirsf_MAPKKK9/10/11,superfamily_Kinase-like_dom		0.711	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	G	NM_002446		40698214	+1	no_errors	ENST00000253055	ensembl	human	known	70_37	silent	SNP	1.000	A
MAP3K12	7786	genome.wustl.edu	37	12	53880774	53880774	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:53880774C>T	ENST00000267079.2	-	3	528	c.303G>A	c.(301-303)atG>atA	p.M101I	MAP3K12_ENST00000547035.1_Missense_Mutation_p.M134I|MAP3K12_ENST00000547488.1_Missense_Mutation_p.M134I|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	101					histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CTTTGCCAATCATGGTCCAGA	0.602																																																	0													101.0	76.0	84.0					12																	53880774		2203	4300	6503	SO:0001583	missense	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.303G>A	12.37:g.53880774C>T	ENSP00000267079:p.Met101Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	pirsf_MAP3K12_MAP3K13,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.M101I	ENST00000267079.2	37	c.303	CCDS8860.1	12	.	.	.	.	.	.	.	.	.	.	C	8.038	0.763241	0.15914	.	.	ENSG00000139625	ENST00000267079;ENST00000547488;ENST00000547035	T;T;T	0.74632	-0.83;-0.86;-0.86	4.73	4.73	0.59995	.	0.000000	0.51477	D	0.000092	T	0.55768	0.1941	N	0.14661	0.345	0.80722	D	1	B;B	0.20052	0.041;0.024	B;B	0.20955	0.032;0.014	T	0.54476	-0.8288	10	0.02654	T	1	.	16.8523	0.85996	0.0:1.0:0.0:0.0	.	134;101	G3V1Y2;Q12852	.;M3K12_HUMAN	I	101;134;134	ENSP00000267079:M101I;ENSP00000449038:M134I;ENSP00000448689:M134I	ENSP00000267079:M101I	M	-	3	0	MAP3K12	52167041	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.191000	0.42640	2.353000	0.79882	0.462000	0.41574	ATG	MAP3K12	-	pirsf_MAP3K12_MAP3K13		0.602	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAP3K12	HGNC	protein_coding	OTTHUMT00000406267.1	C	NM_006301		53880774	-1	no_errors	ENST00000267079	ensembl	human	known	70_37	missense	SNP	1.000	T
MAP3K14	9020	genome.wustl.edu	37	17	43350897	43350897	+	RNA	SNP	C	C	G	rs191157690		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:43350897C>G	ENST00000344686.2	-	0	1735							Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus (GO:0071260)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|T cell costimulation (GO:0031295)	cytosol (GO:0005829)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|NF-kappaB-inducing kinase activity (GO:0004704)|protein kinase activity (GO:0004672)			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCCAGGCCATCAGGTTGAAGA	0.602																																																	0													28.0	30.0	29.0					17																	43350897		2065	4186	6251			9020			Y10256	CCDS74079.1	17q21.31	2014-06-16			ENSG00000006062	ENSG00000006062	2.7.11.25	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6853	protein-coding gene	gene with protein product	"""serine/threonine protein-kinase"""	604655				9020361	Standard	NM_003954		Approved	NIK, HSNIK, FTDCR1B, HS	uc002iiw.1	Q99558	OTTHUMG00000180364		17.37:g.43350897C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2D8|D3DX67|Q8IYN1	RNA	SNP	-	NULL	ENST00000344686.2	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	14.45	2.537864	0.45176	.	.	ENSG00000006062	ENST00000344686;ENST00000376926	.	.	.	5.71	-0.0719	0.13742	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.346453	0.32028	N	0.006698	T	0.43875	0.1267	L	0.56769	1.78	0.42425	D	0.992656	B;B	0.21225	0.053;0.037	B;B	0.26864	0.074;0.028	T	0.45011	-0.9290	8	0.52906	T	0.07	.	6.3917	0.21591	0.0:0.5491:0.2437:0.2072	.	544;74	Q99558;Q6ZMZ1	M3K14_HUMAN;.	H	543;327	.	ENSP00000342059:D543H	D	-	1	0	MAP3K14	40706680	0.033000	0.19621	0.085000	0.20634	0.990000	0.78478	1.033000	0.30191	0.069000	0.16605	0.561000	0.74099	GAT	MAP3K14	-	-		0.602	MAP3K14-201	KNOWN	basic	processed_transcript	MAP3K14	HGNC	processed_transcript		C	NM_003954		43350897	-1	no_errors	ENST00000344686	ensembl	human	known	70_37	rna	SNP	0.610	G
MAPK8IP3	23162	genome.wustl.edu	37	16	1797130	1797130	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1797130C>T	ENST00000250894.4	+	6	1002	c.845C>T	c.(844-846)tCg>tTg	p.S282L	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.S282L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	282					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TCCGTGCCCTCGGCCGCCGTC	0.672																																																	0													52.0	74.0	66.0					16																	1797130		2138	4256	6394	SO:0001583	missense	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.845C>T	16.37:g.1797130C>T	ENSP00000250894:p.Ser282Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Missense_Mutation	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.S282L	ENST00000250894.4	37	c.845	CCDS10442.2	16	.	.	.	.	.	.	.	.	.	.	C	24.5	4.540273	0.85917	.	.	ENSG00000138834	ENST00000250894;ENST00000356010	D;D	0.90444	-2.67;-2.67	5.43	4.48	0.54585	.	0.062472	0.64402	N	0.000003	D	0.93284	0.7860	L	0.51422	1.61	0.80722	D	1	D;D;D	0.71674	0.98;0.997;0.998	P;P;D	0.77557	0.769;0.852;0.99	D	0.93614	0.6941	10	0.66056	D	0.02	-10.4727	13.9922	0.64374	0.0:0.9258:0.0:0.0742	.	283;282;282	B7ZMF3;E9PFH7;Q9UPT6	.;.;JIP3_HUMAN	L	282	ENSP00000250894:S282L;ENSP00000348290:S282L	ENSP00000250894:S282L	S	+	2	0	MAPK8IP3	1737131	1.000000	0.71417	0.937000	0.37676	0.706000	0.40770	7.529000	0.81952	1.300000	0.44818	0.549000	0.68633	TCG	MAPK8IP3	-	NULL		0.672	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	C	NM_001040439		1797130	+1	no_errors	ENST00000250894	ensembl	human	known	70_37	missense	SNP	1.000	T
MBD3	53615	genome.wustl.edu	37	19	1578486	1578486	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:1578486C>T	ENST00000434436.3	-	6	858	c.729G>A	c.(727-729)ctG>ctA	p.L243L	MBD3_ENST00000590550.2_Silent_p.L187L|MBD3_ENST00000585967.1_5'Flank|UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000156825.1_Silent_p.L243L|MBD3_ENST00000592012.1_Silent_p.L211L	NM_001281453.1	NP_001268382.1	O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	243					ATP-dependent chromatin remodeling (GO:0043044)|histone acetylation (GO:0016573)|in utero embryonic development (GO:0001701)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|tissue development (GO:0009888)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nuclear chromatin (GO:0000790)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|methyl-CpG binding (GO:0008327)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCGGCCATCAGCGCCTCCT	0.672																																																	0													67.0	69.0	68.0					19																	1578486		2203	4300	6503	SO:0001819	synonymous_variant	53615			AF072247	CCDS12072.1, CCDS62481.1	19p13	2008-07-17				ENSG00000071655			6918	protein-coding gene	gene with protein product		603573				9774669, 10441743	Standard	NM_001281454		Approved		uc002ltl.1	O95983		ENST00000434436.3:c.729G>A	19.37:g.1578486C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4B7|D6W5Z2|Q6PIL9|Q6PJZ9|Q86XF4	Silent	SNP	pfam_Methyl_CpG_DNA-bd,superfamily_DNA-bd_integrase-typ,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,pfscan_Methyl_CpG_DNA-bd	p.L243	ENST00000434436.3	37	c.729	CCDS12072.1	19																																																																																			MBD3	-	superfamily_ARM-type_fold		0.672	MBD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBD3	HGNC	protein_coding	OTTHUMT00000449658.2	C	NM_003926		1578486	-1	no_errors	ENST00000156825	ensembl	human	known	70_37	silent	SNP	1.000	T
MATK	4145	genome.wustl.edu	37	19	3784450	3784450	+	Splice_Site	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:3784450C>T	ENST00000310132.6	-	4	531		c.e4-1		MATK_ENST00000395045.2_Splice_Site|MATK_ENST00000585778.1_Splice_Site|MATK_ENST00000395040.2_Splice_Site	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase						cell proliferation (GO:0008283)|mesoderm development (GO:0007498)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)	cytosol (GO:0005829)|membrane (GO:0016020)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCAGCGCCTCTGCAGAGGGG	0.657																																																	0													10.0	11.0	10.0					19																	3784450		2191	4287	6478	SO:0001630	splice_region_variant	4145			L18974	CCDS12113.1, CCDS12114.1, CCDS42468.1	19p13.3	2013-02-14						"""SH2 domain containing"""	6906	protein-coding gene	gene with protein product	"""Csk-homologous kinase"", ""tyrosine-protein kinase CTK"", ""protein kinase HYL"", ""hematopoietic consensus tyrosine-lacking kinase"", ""tyrosylprotein kinase"", ""hydroxyaryl-protein kinase"", ""Csk-type protein tyrosine kinase"", ""HYL tyrosine kinase"", ""tyrosine kinase MATK"", ""leukocyte carboxyl-terminal src kinase related"""	600038				8288563, 7530249	Standard	NM_139355		Approved	HYLTK, CTK, HYL, Lsk, CHK, HHYLTK, DKFZp434N1212, MGC1708, MGC2101	uc002lyt.3	P42679		ENST00000310132.6:c.133-1G>A	19.37:g.3784450C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNZ9|Q9NST8	Splice_Site	SNP	-	e3-1	ENST00000310132.6	37	c.136-1	CCDS12114.1	19	.	.	.	.	.	.	.	.	.	.	c	17.46	3.394692	0.62066	.	.	ENSG00000007264	ENST00000395045;ENST00000310132;ENST00000395040	.	.	.	4.81	4.81	0.61882	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8812	0.86063	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	MATK	3735450	1.000000	0.71417	0.995000	0.50966	0.598000	0.36846	6.471000	0.73562	2.219000	0.72066	0.457000	0.33378	.	MATK	-	-		0.657	MATK-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	MATK	HGNC	protein_coding	OTTHUMT00000453639.1	C	NM_139355	Intron	3784450	-1	no_errors	ENST00000395045	ensembl	human	known	70_37	splice_site	SNP	1.000	T
MAST3	23031	genome.wustl.edu	37	19	18260492	18260492	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:18260492G>A	ENST00000262811.6	+	27	3886	c.3886G>A	c.(3886-3888)Gag>Aag	p.E1296K	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3	1296							ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CGTGGAGGGCGAGGAAGCCGT	0.607																																																	0													28.0	31.0	30.0					19																	18260492		2039	4174	6213	SO:0001583	missense	23031			AB011133	CCDS46014.1	19p13	2008-02-05				ENSG00000099308			19036	protein-coding gene	gene with protein product		612258					Standard	NM_015016		Approved	KIAA0561	uc002nhz.4	O60307		ENST00000262811.6:c.3886G>A	19.37:g.18260492G>A	ENSP00000262811:p.Glu1296Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LDZ8|Q9UPI0	Missense_Mutation	SNP	pfam_MA_Ser/Thr_Kinase_dom,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_MAST_pre-PK_dom,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_PDZ,pfscan_PDZ,pfscan_Prot_kinase_cat_dom	p.E1296K	ENST00000262811.6	37	c.3886	CCDS46014.1	19	.	.	.	.	.	.	.	.	.	.	G	9.701	1.154413	0.21371	.	.	ENSG00000099308	ENST00000262811	T	0.65732	-0.17	4.56	0.75	0.18387	.	1.008970	0.07971	N	0.984030	T	0.32224	0.0822	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.06405	0.002	T	0.27157	-1.0082	10	0.05833	T	0.94	-4.2891	3.3688	0.07213	0.0984:0.1419:0.5292:0.2304	.	1296	O60307	MAST3_HUMAN	K	1296	ENSP00000262811:E1296K	ENSP00000262811:E1296K	E	+	1	0	MAST3	18121492	0.006000	0.16342	0.009000	0.14445	0.204000	0.24138	1.524000	0.35942	0.423000	0.26033	0.313000	0.20887	GAG	MAST3	-	NULL		0.607	MAST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAST3	HGNC	protein_coding	OTTHUMT00000466526.2	G	XM_038150		18260492	+1	no_errors	ENST00000262811	ensembl	human	known	70_37	missense	SNP	0.000	A
MCF2L2	23101	genome.wustl.edu	37	3	183014773	183014773	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:183014773G>C	ENST00000328913.3	-	12	1785	c.1488C>G	c.(1486-1488)ctC>ctG	p.L496L	MCF2L2_ENST00000447025.2_Silent_p.L496L|B3GNT5_ENST00000462559.1_3'UTR|MCF2L2_ENST00000414362.2_Silent_p.L496L|MCF2L2_ENST00000473233.1_Silent_p.L496L	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	496							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTTTGCATCGAGGGTGAGCA	0.512																																																	0													92.0	80.0	84.0					3																	183014773		2203	4300	6503	SO:0001819	synonymous_variant	23101			AB020668	CCDS3243.1	3q27	2012-07-24			ENSG00000053524	ENSG00000053524		"""Rho guanine nucleotide exchange factors"""	30319	protein-coding gene	gene with protein product							Standard	NM_015078		Approved	KIAA0861, ARHGEF22	uc003fli.1	Q86YR7	OTTHUMG00000158388	ENST00000328913.3:c.1488C>G	3.37:g.183014773G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O94942|Q6P2B8|Q6ZVJ5|Q8N318	Silent	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.L496	ENST00000328913.3	37	c.1488	CCDS3243.1	3																																																																																			MCF2L2	-	NULL		0.512	MCF2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCF2L2	HGNC	protein_coding	OTTHUMT00000350868.1	G	NM_015078		183014773	-1	no_errors	ENST00000328913	ensembl	human	known	70_37	silent	SNP	0.131	C
MCM3AP	8888	genome.wustl.edu	37	21	47690437	47690437	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:47690437C>A	ENST00000397708.1	-	10	2760	c.2506G>T	c.(2506-2508)Gag>Tag	p.E836*	MCM3AP_ENST00000291688.1_Nonsense_Mutation_p.E836*			O60318	GANP_HUMAN	minichromosome maintenance complex component 3 associated protein	836	SAC3 homology.				DNA replication (GO:0006260)|immune system process (GO:0002376)|mRNA transport (GO:0051028)|protein import into nucleus (GO:0006606)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transferase activity, transferring acyl groups (GO:0016746)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					AATTTCACCTCAGATGAGTTT	0.358																																																	0													78.0	74.0	75.0					21																	47690437		2203	4300	6503	SO:0001587	stop_gained	8888			AB005543	CCDS13734.1	21q22.3	2012-12-19	2007-04-04		ENSG00000160294	ENSG00000160294			6946	protein-coding gene	gene with protein product	"""germinal-centre associated nuclear protein"""	603294	"""minichromosome maintenance deficient (S. cerevisiae) 3-associated protein"", ""MCM3 minichromosome maintenance deficient 3 (S. cerevisiae) associated protein"""			9712829, 16914116, 21195085	Standard	XM_005261205		Approved	Map80, KIAA0572, GANP, SAC3	uc002zir.1	O60318	OTTHUMG00000090630	ENST00000397708.1:c.2506G>T	21.37:g.47690437C>A	ENSP00000380820:p.Glu836*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JL56|Q2M3C1|Q6PJP6|Q9BSY5|Q9UMT4	Nonsense_Mutation	SNP	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25	p.E836*	ENST00000397708.1	37	c.2506	CCDS13734.1	21	.	.	.	.	.	.	.	.	.	.	C	40	7.978949	0.98591	.	.	ENSG00000160294	ENST00000397708;ENST00000291688	.	.	.	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-36.3796	20.4366	0.99092	0.0:1.0:0.0:0.0	.	.	.	.	X	836	.	ENSP00000291688:E836X	E	-	1	0	MCM3AP	46514865	1.000000	0.71417	0.968000	0.41197	0.928000	0.56348	5.753000	0.68736	2.837000	0.97791	0.591000	0.81541	GAG	MCM3AP	-	pfam_SAC3/GANP/Nin1/mts3/eIF-3-p25		0.358	MCM3AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MCM3AP	HGNC	protein_coding	OTTHUMT00000207254.1	C	NM_003906		47690437	-1	no_errors	ENST00000291688	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MCTP2	55784	genome.wustl.edu	37	15	94945136	94945136	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:94945136C>G	ENST00000357742.4	+	16	1973	c.1973C>G	c.(1972-1974)tCa>tGa	p.S658*	MCTP2_ENST00000451018.3_Nonsense_Mutation_p.S658*|MCTP2_ENST00000557742.1_Nonsense_Mutation_p.S246*|MCTP2_ENST00000331706.4_Nonsense_Mutation_p.S246*	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	658					calcium-mediated signaling (GO:0019722)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CAGATCTTATCAAGAGATGTG	0.328																																																	0													89.0	92.0	91.0					15																	94945136		2197	4298	6495	SO:0001587	stop_gained	55784			AK002037	CCDS32338.1, CCDS53975.1, CCDS53976.1	15q26.2	2006-02-08				ENSG00000140563			25636	protein-coding gene	gene with protein product						15528213	Standard	NM_018349		Approved	FLJ11175, FLJ33303	uc002btj.3	Q6DN12		ENST00000357742.4:c.1973C>G	15.37:g.94945136C>G	ENSP00000350377:p.Ser658*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRC2|C6G483|C6G484|Q49AB0|Q8TAX2|Q9NUS2|Q9NUW7	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PRibTrfase_C,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S658*	ENST00000357742.4	37	c.1973	CCDS32338.1	15	.	.	.	.	.	.	.	.	.	.	C	39	7.660130	0.98419	.	.	ENSG00000140563	ENST00000451018;ENST00000331706;ENST00000357742	.	.	.	5.53	5.53	0.82687	.	0.117788	0.64402	D	0.000012	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.4529	0.94875	0.0:1.0:0.0:0.0	.	.	.	.	X	658;246;658	.	ENSP00000329646:S246X	S	+	2	0	MCTP2	92746140	1.000000	0.71417	0.983000	0.44433	0.994000	0.84299	5.728000	0.68531	2.595000	0.87683	0.655000	0.94253	TCA	MCTP2	-	NULL		0.328	MCTP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MCTP2	HGNC	protein_coding	OTTHUMT00000415060.3	C	NM_018349		94945136	+1	no_errors	ENST00000357742	ensembl	human	known	70_37	nonsense	SNP	0.997	G
MDH1B	130752	genome.wustl.edu	37	2	207619773	207619773	+	Silent	SNP	C	C	T	rs61998221	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:207619773C>T	ENST00000374412.3	-	5	1145	c.870G>A	c.(868-870)gcG>gcA	p.A290A	MDH1B_ENST00000449792.1_Silent_p.A192A|MDH1B_ENST00000454776.2_Silent_p.A290A|MDH1B_ENST00000392214.2_Intron	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	290					carbohydrate metabolic process (GO:0005975)|malate metabolic process (GO:0006108)|tricarboxylic acid cycle (GO:0006099)		malate dehydrogenase activity (GO:0016615)|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor (GO:0016616)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GTATGGCTTTCGCTTCACCTT	0.423																																					Pancreas(76;29 1355 28675 37177 51207)												0													87.0	81.0	83.0					2																	207619773		2203	4300	6503	SO:0001819	synonymous_variant	130752				CCDS33365.1, CCDS63102.1	2q33.3	2008-05-27			ENSG00000138400	ENSG00000138400			17836	protein-coding gene	gene with protein product							Standard	NM_001039845		Approved	FLJ25341, RP11-95H11	uc002vbs.3	Q5I0G3	OTTHUMG00000132918	ENST00000374412.3:c.870G>A	2.37:g.207619773C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8M1|Q53TK9|Q8IV51	Silent	SNP	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C	p.A290	ENST00000374412.3	37	c.870	CCDS33365.1	2																																																																																			MDH1B	-	pfam_Lactate/malate_DH_C,superfamily_Lactate_DH/Glyco_Ohase_4_C		0.423	MDH1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MDH1B	HGNC	protein_coding	OTTHUMT00000256429.2	C	NM_001039845		207619773	-1	no_errors	ENST00000374412	ensembl	human	known	70_37	silent	SNP	0.942	T
MDN1	23195	genome.wustl.edu	37	6	90382015	90382015	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:90382015C>T	ENST00000369393.3	-	82	13813	c.13698G>A	c.(13696-13698)gtG>gtA	p.V4566V	MDN1_ENST00000428876.1_Silent_p.V4566V|MDN1_ENST00000468568.1_5'UTR|RP1-122O8.7_ENST00000438877.1_RNA			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4566					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCAAAGTGCTCACATCGGCCC	0.468																																																	0													127.0	116.0	120.0					6																	90382015		2203	4300	6503	SO:0001819	synonymous_variant	23195			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.13698G>A	6.37:g.90382015C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15019|Q5T794	Silent	SNP	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.V4566	ENST00000369393.3	37	c.13698	CCDS5024.1	6																																																																																			MDN1	-	superfamily_ARM-type_fold,pirsf_Midasin		0.468	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	C			90382015	-1	no_errors	ENST00000369393	ensembl	human	known	70_37	silent	SNP	1.000	T
MED13	9969	genome.wustl.edu	37	17	60038445	60038445	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60038445C>T	ENST00000397786.2	-	23	5339	c.5263G>A	c.(5263-5265)Gag>Aag	p.E1755K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1755					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CGAATACACTCTGGTCTCTAT	0.313																																																	0													64.0	56.0	58.0					17																	60038445		1806	4064	5870	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5263G>A	17.37:g.60038445C>T	ENSP00000380888:p.Glu1755Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E1755K	ENST00000397786.2	37	c.5263	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321641	0.81580	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.82711	-1.64	5.16	5.16	0.70880	.	0.096228	0.64402	D	0.000001	T	0.78972	0.4368	N	0.25647	0.755	0.80722	D	1	P	0.45348	0.856	P	0.48454	0.578	T	0.74604	-0.3610	10	0.09590	T	0.72	0.3008	18.6541	0.91441	0.0:1.0:0.0:0.0	.	1755	Q9UHV7	MED13_HUMAN	K	1755;1754	ENSP00000380888:E1755K	ENSP00000262436:E1754K	E	-	1	0	MED13	57393227	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.400000	0.79949	2.409000	0.81822	0.650000	0.86243	GAG	MED13	-	pfam_Mediator_Med13		0.313	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60038445	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	T
MED13	9969	genome.wustl.edu	37	17	60039092	60039092	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60039092C>T	ENST00000397786.2	-	22	5189	c.5113G>A	c.(5113-5115)Gaa>Aaa	p.E1705K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1705					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGATAGATTTCTCTATCTTCA	0.393																																																	0													134.0	134.0	134.0					17																	60039092		1819	4075	5894	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.5113G>A	17.37:g.60039092C>T	ENSP00000380888:p.Glu1705Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.E1705K	ENST00000397786.2	37	c.5113	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	9.720	1.159433	0.21454	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	D	0.81821	-1.54	5.3	4.33	0.51752	.	0.166101	0.53938	D	0.000046	T	0.62356	0.2421	N	0.03608	-0.345	0.34710	D	0.727689	B	0.12013	0.005	B	0.19391	0.025	T	0.62305	-0.6882	10	0.24483	T	0.36	-27.6859	16.0079	0.80374	0.0:0.137:0.863:0.0	.	1705	Q9UHV7	MED13_HUMAN	K	1705;1704	ENSP00000380888:E1705K	ENSP00000262436:E1704K	E	-	1	0	MED13	57393874	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.340000	0.65958	1.240000	0.43803	-0.226000	0.12346	GAA	MED13	-	pfam_Mediator_Med13		0.393	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60039092	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	T
MED13	9969	genome.wustl.edu	37	17	60059745	60059745	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60059745C>G	ENST00000397786.2	-	16	3695	c.3619G>C	c.(3619-3621)Gac>Cac	p.D1207H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1207					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GGATCTTGGTCTGCTGCTCCA	0.388																																																	0													130.0	117.0	121.0					17																	60059745		1911	4138	6049	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3619G>C	17.37:g.60059745C>G	ENSP00000380888:p.Asp1207His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.D1207H	ENST00000397786.2	37	c.3619	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434247	0.62955	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74002	-0.8	5.74	5.74	0.90152	.	0.044361	0.85682	D	0.000000	T	0.76659	0.4018	N	0.20766	0.605	0.80722	D	1	D	0.71674	0.998	D	0.64042	0.921	T	0.73260	-0.4039	10	0.24483	T	0.36	-18.9809	19.9196	0.97082	0.0:1.0:0.0:0.0	.	1207	Q9UHV7	MED13_HUMAN	H	1207;1206	ENSP00000380888:D1207H	ENSP00000262436:D1206H	D	-	1	0	MED13	57414527	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	2.708000	0.92522	0.650000	0.86243	GAC	MED13	-	NULL		0.388	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60059745	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	G
MED13	9969	genome.wustl.edu	37	17	60059974	60059974	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60059974C>T	ENST00000397786.2	-	16	3466	c.3390G>A	c.(3388-3390)atG>atA	p.M1130I		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1130					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTTCTGTTCATGACAGCAC	0.403																																																	0													148.0	135.0	139.0					17																	60059974		1908	4122	6030	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3390G>A	17.37:g.60059974C>T	ENSP00000380888:p.Met1130Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.M1130I	ENST00000397786.2	37	c.3390	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	15.48	2.845799	0.51164	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.74315	-0.83	5.83	5.83	0.93111	.	0.039821	0.85682	D	0.000000	T	0.70859	0.3272	L	0.48642	1.525	0.58432	D	0.999995	B	0.28178	0.202	B	0.20955	0.032	T	0.68209	-0.5469	10	0.59425	D	0.04	-12.8874	20.1356	0.98028	0.0:1.0:0.0:0.0	.	1130	Q9UHV7	MED13_HUMAN	I	1130;1129	ENSP00000380888:M1130I	ENSP00000262436:M1129I	M	-	3	0	MED13	57414756	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.730000	0.62015	2.755000	0.94549	0.650000	0.86243	ATG	MED13	-	NULL		0.403	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60059974	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	T
MED13	9969	genome.wustl.edu	37	17	60060246	60060246	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60060246C>G	ENST00000397786.2	-	16	3194	c.3118G>C	c.(3118-3120)Gac>Cac	p.D1040H		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1040					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAATACAAGTCTGAATTTTCA	0.493																																																	0													87.0	87.0	87.0					17																	60060246		1946	4132	6078	SO:0001583	missense	9969			AB011165	CCDS42366.1	17q22-q23	2007-07-30	2007-07-30	2007-07-30		ENSG00000108510			22474	protein-coding gene	gene with protein product		603808	"""thyroid hormone receptor associated protein 1"""	THRAP1		1019863	Standard	NM_005121		Approved	KIAA0593, TRAP240	uc002izo.3	Q9UHV7		ENST00000397786.2:c.3118G>C	17.37:g.60060246C>G	ENSP00000380888:p.Asp1040His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU05|O60334	Missense_Mutation	SNP	pfam_Mediator_Med13,pfam_Mediator_Med13_N_met/fun	p.D1040H	ENST00000397786.2	37	c.3118	CCDS42366.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.274281	0.80580	.	.	ENSG00000108510	ENST00000397786;ENST00000262436	T	0.75938	-0.98	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	D	0.84347	0.5452	L	0.52364	1.645	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.84544	0.0640	10	0.72032	D	0.01	-18.0896	20.1551	0.98106	0.0:1.0:0.0:0.0	.	1040	Q9UHV7	MED13_HUMAN	H	1040;1039	ENSP00000380888:D1040H	ENSP00000262436:D1039H	D	-	1	0	MED13	57415028	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.403000	0.79983	2.760000	0.94817	0.655000	0.94253	GAC	MED13	-	NULL		0.493	MED13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED13	HGNC	protein_coding	OTTHUMT00000445461.1	C	NM_005121		60060246	-1	no_errors	ENST00000397786	ensembl	human	known	70_37	missense	SNP	1.000	G
MED15	51586	genome.wustl.edu	37	22	20940943	20940943	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:20940943C>T	ENST00000263205.7	+	18	2388	c.2319C>T	c.(2317-2319)ctC>ctT	p.L773L	MED15_ENST00000406969.1_Silent_p.L707L|MED15_ENST00000541476.1_Silent_p.L707L|MED15_ENST00000425759.2_Silent_p.L622L|MED15_ENST00000542773.1_3'UTR|MED15_ENST00000292733.7_Silent_p.L733L|MED15_ENST00000382974.2_Silent_p.L662L	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	773					gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCGCCTTGCTCAACACCTGGG	0.667																																																	0													58.0	56.0	57.0					22																	20940943		2203	4300	6503	SO:0001819	synonymous_variant	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.2319C>T	22.37:g.20940943C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	Silent	SNP	pfam_Mediator_Med15_met	p.L773	ENST00000263205.7	37	c.2319	CCDS33602.1	22																																																																																			MED15	-	pfam_Mediator_Med15_met		0.667	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2	C	NM_015889		20940943	+1	no_errors	ENST00000263205	ensembl	human	known	70_37	silent	SNP	1.000	T
MED17	9440	genome.wustl.edu	37	11	93517706	93517706	+	Silent	SNP	C	C	T	rs376774687		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:93517706C>T	ENST00000251871.3	+	1	314	c.27C>T	c.(25-27)atC>atT	p.I9I	MED17_ENST00000530819.1_Silent_p.I9I	NM_004268.4	NP_004259.3	Q9NVC6	MED17_HUMAN	mediator complex subunit 17	9					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|receptor activity (GO:0004872)|RNA polymerase II transcription cofactor activity (GO:0001104)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGTGCGGATCAGCATCGAAT	0.657																																																	0								C		1,4401	2.1+/-5.4	0,1,2200	43.0	37.0	39.0		27	5.8	1.0	11		39	0,8594		0,0,4297	no	coding-synonymous	MED17	NM_004268.4		0,1,6497	TT,TC,CC		0.0,0.0227,0.0077		9/652	93517706	1,12995	2201	4297	6498	SO:0001819	synonymous_variant	9440			AF104254	CCDS8295.1	11q21	2007-07-30	2007-07-30	2007-07-30	ENSG00000042429	ENSG00000042429			2375	protein-coding gene	gene with protein product		603810	"""cofactor required for Sp1 transcriptional activation, subunit 6 (77kD)"", ""cofactor required for Sp1 transcriptional activation, subunit 6, 77kDa"""	CRSP6		9989412, 10198638	Standard	NM_004268		Approved	CRSP77, TRAP80, DRIP80	uc001pem.4	Q9NVC6	OTTHUMG00000167497	ENST00000251871.3:c.27C>T	11.37:g.93517706C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KN07|Q9HA81|Q9UNP7|Q9Y2W0|Q9Y660	Silent	SNP	pfam_Mediator_Med17	p.I9	ENST00000251871.3	37	c.27	CCDS8295.1	11																																																																																			MED17	-	pfam_Mediator_Med17		0.657	MED17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED17	HGNC	protein_coding	OTTHUMT00000394800.2	C	NM_004268		93517706	+1	no_errors	ENST00000251871	ensembl	human	known	70_37	silent	SNP	1.000	T
MEG3	55384	genome.wustl.edu	37	14	101324774	101324774	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:101324774C>G	ENST00000554041.1	-	0	143																											GTTTGGCTCTCACATCCCCAC	0.612																																																	0																																												55384																															14.37:g.101324774C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000554041.1	37	NULL		14																																																																																			MEG3	-	-		0.612	RP11-123M6.2-001	KNOWN	basic	antisense	MEG3	HGNC	antisense	OTTHUMT00000414687.1	C			101324774	+1	no_errors	ENST00000398460	ensembl	human	known	70_37	rna	SNP	0.000	G
MEIS3	56917	genome.wustl.edu	37	19	47910191	47910191	+	Silent	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:47910191G>T	ENST00000558555.1	-	11	1219	c.1032C>A	c.(1030-1032)atC>atA	p.I344I	MEIS3_ENST00000561293.1_Silent_p.I390I|MEIS3_ENST00000331559.5_Silent_p.I373I|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561096.1_Silent_p.I432I|MEIS3_ENST00000559524.1_Silent_p.I390I|MEIS3_ENST00000441740.2_Silent_p.I327I			Q99687	MEIS3_HUMAN	Meis homeobox 3	344					negative regulation of apoptotic signaling pathway (GO:2001234)|positive regulation of protein kinase B signaling (GO:0051897)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)	p.I390I(1)		breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TATAGCCCCCGATGGGCTGGC	0.706																																																	1	Substitution - coding silent(1)	large_intestine(1)											39.0	21.0	27.0					19																	47910191		2192	4289	6481	SO:0001819	synonymous_variant	56917			BC025404	CCDS33064.1, CCDS46132.1, CCDS74406.1	19q13.32	2012-10-02	2007-02-15		ENSG00000105419	ENSG00000105419		"""Homeoboxes / TALE class"""	29537	protein-coding gene	gene with protein product			"""Meis1, myeloid ecotropic viral integration site 1 homolog 3 (mouse)"""			8950991	Standard	NM_020160		Approved	MRG2, DKFZp547H236	uc002pgt.4	Q99687	OTTHUMG00000172280	ENST00000558555.1:c.1032C>A	19.37:g.47910191G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1N5|Q6NT73|Q8TC66|Q9NPW2	Silent	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.I390	ENST00000558555.1	37	c.1170		19																																																																																			MEIS3	-	NULL		0.706	MEIS3-005	NOVEL	basic|appris_candidate_longest	protein_coding	MEIS3	HGNC	protein_coding	OTTHUMT00000417642.1	G	XM_085929		47910191	-1	no_errors	ENST00000559524	ensembl	human	known	70_37	silent	SNP	0.976	T
MEPCE	56257	genome.wustl.edu	37	7	100028248	100028248	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:100028248G>A	ENST00000310512.2	+	1	995	c.607G>A	c.(607-609)Gag>Aag	p.E203K	MEPCE_ENST00000414441.1_5'UTR|ZCWPW1_ENST00000360951.4_5'Flank|ZCWPW1_ENST00000398027.2_5'Flank|ZCWPW1_ENST00000324725.6_5'Flank	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	203					negative regulation of chromatin binding (GO:0035562)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|RNA methylation (GO:0001510)|snRNA metabolic process (GO:0016073)|snRNA modification (GO:0040031)		poly(A) RNA binding (GO:0044822)|RNA methyltransferase activity (GO:0008173)|S-adenosylmethionine-dependent methyltransferase activity (GO:0008757)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCTCCTGGATGAGGAAGTGAG	0.567																																																	0													81.0	80.0	80.0					7																	100028248		2203	4300	6503	SO:0001583	missense	56257			AF264752	CCDS5693.1, CCDS55136.1	7q22.1	2008-02-04	2007-07-26	2007-07-26	ENSG00000146834	ENSG00000146834			20247	protein-coding gene	gene with protein product		611478	"""bin3, bicoid-interacting 3, homolog (Drosophila)"""	BCDIN3		12358911, 17643375	Standard	NM_019606		Approved	FLJ20257, MePCE	uc003uuw.3	Q7L2J0	OTTHUMG00000155255	ENST00000310512.2:c.607G>A	7.37:g.100028248G>A	ENSP00000308546:p.Glu203Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP86|D6W5V7|Q9NPD4	Missense_Mutation	SNP	pfam_Bin3	p.E203K	ENST00000310512.2	37	c.607	CCDS5693.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.301261	0.95601	.	.	ENSG00000146834	ENST00000310512	.	.	.	4.86	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.74321	0.3701	L	0.52905	1.665	0.58432	D	0.999997	D	0.76494	0.999	D	0.78314	0.991	T	0.74044	-0.3791	9	0.45353	T	0.12	-9.6159	15.5198	0.75857	0.0:0.0:1.0:0.0	.	203	Q7L2J0	MEPCE_HUMAN	K	203	.	ENSP00000308546:E203K	E	+	1	0	MEPCE	99866184	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.556000	0.90697	2.530000	0.85305	0.561000	0.74099	GAG	MEPCE	-	NULL		0.567	MEPCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPCE	HGNC	protein_coding	OTTHUMT00000339135.1	G			100028248	+1	no_errors	ENST00000310512	ensembl	human	known	70_37	missense	SNP	1.000	A
MEPE	56955	genome.wustl.edu	37	4	88767936	88767936	+	3'UTR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:88767936C>G	ENST00000424957.3	+	0	1989				MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000497649.2_3'UTR|MEPE_ENST00000560249.1_3'UTR|MEPE_ENST00000361056.3_3'UTR|MEPE_ENST00000395102.4_3'UTR|MEPE_ENST00000540395.1_3'UTR	NM_001184694.1	NP_001171623.1	Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein						biomineral tissue development (GO:0031214)|negative regulation of bone mineralization (GO:0030502)|regulation of bone remodeling (GO:0046850)|skeletal system development (GO:0001501)	proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		CAATATCTCTCGATGATAATT	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	56955			AJ276396	CCDS3625.1, CCDS54776.1	4q21.1	2008-08-29	2008-08-29		ENSG00000152595	ENSG00000152595			13361	protein-coding gene	gene with protein product		605912	"""matrix, extracellular phosphoglycoprotein with ASARM motif (bone)"""			10945470	Standard	NM_020203		Approved		uc003hqy.3	Q9NQ76	OTTHUMG00000130592	ENST00000424957.3:c.*338C>G	4.37:g.88767936C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4X9|A8MTA3|D2CFR4|F5H5C5	RNA	SNP	-	NULL	ENST00000424957.3	37	NULL	CCDS3625.1	4																																																																																			MEPE	-	-		0.368	MEPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MEPE	HGNC	protein_coding	OTTHUMT00000253038.1	C			88767936	+1	no_errors	ENST00000508016	ensembl	human	known	70_37	rna	SNP	0.000	G
METTL2A	339175	genome.wustl.edu	37	17	60505165	60505165	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60505165G>A	ENST00000311506.5	+	4	611	c.575G>A	c.(574-576)gGa>gAa	p.G192E		NM_181725.3	NP_859076.3	Q96IZ6	MET2A_HUMAN	methyltransferase like 2A	192					tRNA methylation (GO:0030488)		tRNA (cytosine) methyltransferase activity (GO:0016427)			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			TGTGGTGTGGGAAACACAGTC	0.358																																																	0													52.0	54.0	53.0					17																	60505165		2201	4297	6498	SO:0001583	missense	339175			AK000991	CCDS45752.1	17q23.3	2012-12-20		2006-02-10	ENSG00000087995	ENSG00000087995			25755	protein-coding gene	gene with protein product						12477932	Standard	NM_181725		Approved	FLJ12760, METTL2	uc002izv.2	Q96IZ6	OTTHUMG00000164527	ENST00000311506.5:c.575G>A	17.37:g.60505165G>A	ENSP00000309610:p.Gly192Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNC4|Q9H9G9|Q9NUI8|Q9P0B5	Missense_Mutation	SNP	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd	p.G192E	ENST00000311506.5	37	c.575	CCDS45752.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.8|24.8	4.572747|4.572747	0.86542|0.86542	.|.	.|.	ENSG00000087995|ENSG00000087995	ENST00000333483|ENST00000311506	.|T	.|0.26223	.|1.75	4.89|4.89	4.89|4.89	0.63831|0.63831	.|Methyltransferase type 12 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.55657|0.55657	0.1934|0.1934	M|M	0.82323|0.82323	2.585|2.585	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.62996|0.62996	-0.6735|-0.6735	6|10	0.36615|0.87932	T|D	0.2|0	-2.0466|-2.0466	16.971|16.971	0.86300|0.86300	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|192	.|Q96IZ6	.|MTL2A_HUMAN	K|E	191|192	.|ENSP00000309610:G192E	ENSP00000331401:E191K|ENSP00000309610:G192E	E|G	+|+	1|2	0|0	METTL2A|METTL2A	57858897|57858897	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	9.507000|9.507000	0.97996|0.97996	2.425000|2.425000	0.82216|0.82216	0.484000|0.484000	0.47621|0.47621	GAA|GGA	METTL2A	-	pfam_Methyltransf_12,pfam_Methyltransf_11,pfam_UbiE/COQ5_MeTrFase,pirsf_MeTrfase_METTL2_prd		0.358	METTL2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL2A	HGNC	protein_coding	OTTHUMT00000445130.1	G	NM_181725		60505165	+1	no_errors	ENST00000311506	ensembl	human	known	70_37	missense	SNP	1.000	A
MEX3D	399664	genome.wustl.edu	37	19	1567479	1567479	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:1567479C>G	ENST00000402693.4	-	1	578	c.579G>C	c.(577-579)gaG>gaC	p.E193D	MEX3D_ENST00000388824.6_Missense_Mutation_p.E193D	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	193	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				mRNA destabilization (GO:0061157)|mRNA localization resulting in posttranscriptional regulation of gene expression (GO:0010609)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	AU-rich element binding (GO:0017091)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GACCCACGATCTCGGCGACGT	0.711																																																	0													36.0	22.0	27.0					19																	1567479		2189	4288	6477	SO:0001583	missense	399664			AB107353	CCDS32865.2	19p13.3	2013-08-21	2013-08-21	2007-07-18	ENSG00000181588	ENSG00000181588		"""RING-type (C3HC4) zinc fingers"", ""Mex-3 homologs"""	16734	protein-coding gene	gene with protein product	"""bcl-2 ARE RNA binding protein"""	611009	"""ring finger and KH domain containing 1"", ""mex-3 homolog D (C. elegans)"""	RKHD1		17267406	Standard	NM_203304		Approved	Tino, KIAA2031, OK/SW-cl.4, RNF193	uc010dsn.3	Q86XN8	OTTHUMG00000150369	ENST00000402693.4:c.579G>C	19.37:g.1567479C>G	ENSP00000384398:p.Glu193Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJL8|A1L023|E9PAL6|Q71M49	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_Znf_RING,pfscan_KH_dom_type_1	p.E193D	ENST00000402693.4	37	c.579	CCDS32865.2	19	.	.	.	.	.	.	.	.	.	.	C	18.72	3.683616	0.68157	.	.	ENSG00000181588	ENST00000355663;ENST00000402693;ENST00000388824	T;T	0.28895	1.59;1.59	3.05	1.96	0.26148	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.160600	0.40302	U	0.001128	T	0.46737	0.1408	M	0.64997	1.995	0.44736	D	0.997736	D	0.89917	1.0	D	0.91635	0.999	T	0.43376	-0.9395	10	0.59425	D	0.04	.	8.2342	0.31616	0.0:0.8645:0.0:0.1355	.	193	Q86XN8	MEX3D_HUMAN	D	83;193;193	ENSP00000384398:E193D;ENSP00000373476:E193D	ENSP00000347885:E83D	E	-	3	2	MEX3D	1518479	1.000000	0.71417	1.000000	0.80357	0.645000	0.38454	1.124000	0.31320	1.245000	0.43885	0.205000	0.17691	GAG	MEX3D	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.711	MEX3D-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MEX3D	HGNC	protein_coding	OTTHUMT00000317870.2	C	NM_203304		1567479	-1	no_errors	ENST00000388824	ensembl	human	known	70_37	missense	SNP	1.000	G
MFAP1	4236	genome.wustl.edu	37	15	44105255	44105255	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:44105255C>T	ENST00000267812.3	-	6	1049	c.817G>A	c.(817-819)Gag>Aag	p.E273K		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	273					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TATTCCTCCTCATCATTTTCA	0.433																																																	0													346.0	328.0	334.0					15																	44105255		2198	4298	6496	SO:0001583	missense	4236				CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.817G>A	15.37:g.44105255C>T	ENSP00000267812:p.Glu273Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86TG6	Missense_Mutation	SNP	pfam_MFAP1_C	p.E273K	ENST00000267812.3	37	c.817	CCDS10105.1	15	.	.	.	.	.	.	.	.	.	.	C	35	5.449728	0.96205	.	.	ENSG00000140259	ENST00000267812	.	.	.	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	D	0.84529	0.5492	M	0.89785	3.06	0.80722	D	1	D	0.60160	0.987	D	0.65573	0.936	D	0.86859	0.2028	9	0.56958	D	0.05	-22.3942	18.4248	0.90605	0.0:1.0:0.0:0.0	.	273	P55081	MFAP1_HUMAN	K	273	.	ENSP00000267812:E273K	E	-	1	0	MFAP1	41892547	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.278000	0.78587	2.746000	0.94184	0.655000	0.94253	GAG	MFAP1	-	pfam_MFAP1_C		0.433	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP1	HGNC	protein_coding	OTTHUMT00000133491.2	C	NM_005926		44105255	-1	no_errors	ENST00000267812	ensembl	human	known	70_37	missense	SNP	1.000	T
MFAP3L	9848	genome.wustl.edu	37	4	170913057	170913057	+	Silent	SNP	G	G	A	rs536326972		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:170913057G>A	ENST00000361618.3	-	3	1009	c.702C>T	c.(700-702)atC>atT	p.I234I	MFAP3L_ENST00000393704.3_Silent_p.I131I|RP11-6E9.4_ENST00000508955.1_RNA	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	234						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CAAGCTCTTCGATGTAGCGGG	0.552													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19093	0.0		0.0	False		,,,				2504	0.0																0													63.0	68.0	66.0					4																	170913057		2203	4300	6503	SO:0001819	synonymous_variant	9848			AB014526	CCDS34103.1, CCDS43281.1	4q33	2014-08-12			ENSG00000198948	ENSG00000198948		"""Immunoglobulin superfamily / I-set domain containing"""	29083	protein-coding gene	gene with protein product						9734811	Standard	XM_005263366		Approved	KIAA0626, NYD-sp9	uc003isp.4	O75121	OTTHUMG00000160942	ENST00000361618.3:c.702C>T	4.37:g.170913057G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1X6|D3DP35|Q4W5N7|Q4W5N9|Q6TNA8|Q9BVE1|Q9BXK0	Silent	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.I234	ENST00000361618.3	37	c.702	CCDS34103.1	4																																																																																			MFAP3L	-	NULL		0.552	MFAP3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFAP3L	HGNC	protein_coding	OTTHUMT00000363043.2	G	NM_021647		170913057	-1	no_errors	ENST00000361618	ensembl	human	known	70_37	silent	SNP	0.982	A
MFN1	55669	genome.wustl.edu	37	3	179082959	179082959	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:179082959C>T	ENST00000471841.1	+	7	825	c.699C>T	c.(697-699)ttC>ttT	p.F233F	MFN1_ENST00000263969.5_Silent_p.F233F|MFN1_ENST00000280653.7_Silent_p.F233F	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	233	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			CTAATATTTTCATTCTCAATA	0.333																																																	0													56.0	61.0	59.0					3																	179082959		2203	4300	6503	SO:0001819	synonymous_variant	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.699C>T	3.37:g.179082959C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Silent	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.F233	ENST00000471841.1	37	c.699	CCDS3228.1	3																																																																																			MFN1	-	pfam_Dynamin_GTPase		0.333	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	C	NM_017927		179082959	+1	no_errors	ENST00000263969	ensembl	human	known	70_37	silent	SNP	0.992	T
MFN1	55669	genome.wustl.edu	37	3	179082985	179082985	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:179082985C>G	ENST00000471841.1	+	7	851	c.725C>G	c.(724-726)tCt>tGt	p.S242C	MFN1_ENST00000263969.5_Missense_Mutation_p.S242C|MFN1_ENST00000280653.7_Missense_Mutation_p.S242C	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	242	Dynamin-type G.				mitochondrial fusion (GO:0008053)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TGGGATGCCTCTGCATCAGAG	0.328																																																	0													50.0	54.0	53.0					3																	179082985		2203	4300	6503	SO:0001583	missense	55669			AF054986	CCDS3228.1	3q26.32	2006-12-13			ENSG00000171109	ENSG00000171109			18262	protein-coding gene	gene with protein product		608506				8358434, 11181170	Standard	NM_033540		Approved	FLJ20693	uc003fjs.3	Q8IWA4	OTTHUMG00000157385	ENST00000471841.1:c.725C>G	3.37:g.179082985C>G	ENSP00000420617:p.Ser242Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAR1|D3DNR6|O15323|O60639|Q9BZB5|Q9NWQ2	Missense_Mutation	SNP	pfam_Fzo/mitofusin_HR2,pfam_Dynamin_GTPase	p.S242C	ENST00000471841.1	37	c.725	CCDS3228.1	3	.	.	.	.	.	.	.	.	.	.	C	19.98	3.927490	0.73327	.	.	ENSG00000171109	ENST00000471841;ENST00000280653;ENST00000539169;ENST00000263969;ENST00000489329;ENST00000474903	D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.66;-3.66	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98128	0.9382	M	0.88241	2.94	0.80722	D	1	D;D;D	0.89917	1.0;0.999;0.998	D;P;P	0.87578	0.998;0.907;0.907	D	0.98003	1.0361	10	0.48119	T	0.1	-19.0836	19.7394	0.96219	0.0:1.0:0.0:0.0	.	242;270;242	Q8IWA4-3;Q4AEJ4;Q8IWA4	.;.;MFN1_HUMAN	C	242;242;242;242;95;105	ENSP00000420617:S242C;ENSP00000280653:S242C;ENSP00000263969:S242C;ENSP00000420148:S95C;ENSP00000419926:S105C	ENSP00000263969:S242C	S	+	2	0	MFN1	180565679	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.739000	0.68622	2.649000	0.89929	0.563000	0.77884	TCT	MFN1	-	NULL		0.328	MFN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MFN1	HGNC	protein_coding	OTTHUMT00000348654.2	C	NM_017927		179082985	+1	no_errors	ENST00000263969	ensembl	human	known	70_37	missense	SNP	1.000	G
MGAT5B	146664	genome.wustl.edu	37	17	74902154	74902154	+	Silent	SNP	C	C	A	rs148343315		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:74902154C>A	ENST00000569840.2	+	8	1484	c.910C>A	c.(910-912)Cgg>Agg	p.R304R	MGAT5B_ENST00000301618.4_Silent_p.R304R|MGAT5B_ENST00000428789.2_Silent_p.R315R|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	304					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GTTCAGCCCTCGGGTCCTGAA	0.647																																																	0													64.0	68.0	67.0					17																	74902154		2203	4300	6503	SO:0001819	synonymous_variant	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.910C>A	17.37:g.74902154C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Silent	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.R315	ENST00000569840.2	37	c.943	CCDS59299.1	17																																																																																			MGAT5B	-	NULL		0.647	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	C	NM_144677		74902154	+1	no_errors	ENST00000428789	ensembl	human	known	70_37	silent	SNP	0.586	A
MGAT5B	146664	genome.wustl.edu	37	17	74902205	74902205	+	Missense_Mutation	SNP	C	C	G	rs138534156		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:74902205C>G	ENST00000569840.2	+	8	1535	c.961C>G	c.(961-963)Ctg>Gtg	p.L321V	MGAT5B_ENST00000301618.4_Missense_Mutation_p.L321V|MGAT5B_ENST00000428789.2_Missense_Mutation_p.L332V|MGAT5B_ENST00000374998.3_3'UTR	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	321					protein N-linked glycosylation (GO:0006487)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-1,6-mannosylglycoprotein 6-beta-N-acetylglucosaminyltransferase activity (GO:0030144)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGCGGACATTCTGACTGCACT	0.637																																																	0													73.0	68.0	70.0					17																	74902205		2203	4300	6503	SO:0001583	missense	146664			AB109185	CCDS11751.1, CCDS45788.1, CCDS59299.1	17q25.3	2013-02-25	2005-11-16		ENSG00000167889	ENSG00000167889		"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	24140	protein-coding gene	gene with protein product		612441	"""mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isoenzyme B"""			14617637, 14623122	Standard	NM_001199172		Approved	GnT-IX, FLJ25132, GnT-VB	uc002jth.3	Q3V5L5	OTTHUMG00000177278	ENST00000569840.2:c.961C>G	17.37:g.74902205C>G	ENSP00000456037:p.Leu321Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P3S8|Q6P6B3|Q766X5|Q76D04|Q96LS2	Missense_Mutation	SNP	superfamily_PyrdxlP-dep_Trfase_major_dom	p.L332V	ENST00000569840.2	37	c.994	CCDS59299.1	17	.	.	.	.	.	.	.	.	.	.	C	16.28	3.077950	0.55753	.	.	ENSG00000167889	ENST00000374998;ENST00000301618;ENST00000428789	T;T	0.48201	0.83;0.82	5.27	2.09	0.27110	.	0.079660	0.51477	D	0.000085	T	0.40694	0.1127	M	0.68593	2.085	0.49582	D	0.999802	B;B	0.31318	0.319;0.319	B;B	0.26416	0.069;0.069	T	0.32613	-0.9900	10	0.56958	D	0.05	-19.8141	7.6127	0.28139	0.0:0.6547:0.0:0.3453	.	332;321	Q3V5L5-2;Q3V5L5-5	.;.	V	321;321;332	ENSP00000301618:L321V;ENSP00000391227:L332V	ENSP00000301618:L321V	L	+	1	2	MGAT5B	72413800	0.865000	0.29922	0.987000	0.45799	0.711000	0.40976	0.301000	0.19174	0.554000	0.29061	0.455000	0.32223	CTG	MGAT5B	-	NULL		0.637	MGAT5B-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MGAT5B	HGNC	protein_coding	OTTHUMT00000460624.2	C	NM_144677		74902205	+1	no_errors	ENST00000428789	ensembl	human	known	70_37	missense	SNP	1.000	G
MIA3	375056	genome.wustl.edu	37	1	222803319	222803319	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:222803319G>C	ENST00000344922.5	+	4	2782	c.2757G>C	c.(2755-2757)aaG>aaC	p.K919N	MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.K919N|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	919					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ATAGTGACAAGAGGGAGGACT	0.483																																																	0													75.0	70.0	72.0					1																	222803319		1954	4132	6086	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2757G>C	1.37:g.222803319G>C	ENSP00000340900:p.Lys919Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.K919N	ENST00000344922.5	37	c.2757	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	3.035|3.035	-0.198877|-0.198877	0.06219|0.06219	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000354906|ENST00000344922;ENST00000344441;ENST00000320831	.|T;T	.|0.04603	.|3.59;3.59	4.53|4.53	-9.05|-9.05	0.00730|0.00730	.|.	.|.	.|.	.|.	.|.	T|T	0.03390|0.03390	0.0098|0.0098	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	.|B;B	.|0.27068	.|0.013;0.167	.|B;B	.|0.19148	.|0.005;0.024	T|T	0.19778|0.19778	-1.0295|-1.0295	5|9	.|0.20519	.|T	.|0.43	.|.	8.2881|8.2881	0.31941|0.31941	0.0667:0.1573:0.5267:0.2492|0.0667:0.1573:0.5267:0.2492	.|.	.|919;919	.|Q5JRA6-2;Q5JRA6	.|.;MIA3_HUMAN	Q|N	502|919	.|ENSP00000340900:K919N;ENSP00000340587:K919N	.|ENSP00000325973:K919N	E|K	+|+	1|3	0|2	MIA3|MIA3	220869942|220869942	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.009000|0.009000	0.06853|0.06853	-2.793000|-2.793000	0.00766|0.00766	-2.968000|-2.968000	0.00287|0.00287	-0.502000|-0.502000	0.04539|0.04539	GAG|AAG	MIA3	-	NULL		0.483	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	G	NM_198551		222803319	+1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.000	C
MICA	100507436	genome.wustl.edu	37	6	31380161	31380161	+	Frame_Shift_Del	DEL	G	G	-	rs41293539|rs547446871|rs138201170	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:31380161delG	ENST00000449934.2	+	5	1006	c.952delG	c.(952-954)ggcfs	p.G318fs	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1			MHC class I polypeptide-related sequence A											breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TGTTGCTGCTGGCTGCTGCTA	0.453													?|GG|G|unsure	1026	0.204872	0.0537	0.2824	5008	,	,		19280	0.3869		0.1272	False		,,,				2504	0.2464																0													218.0	178.0	190.0					6																	31380161		692	1576	2268	SO:0001589	frameshift_variant	100507436			L14848	CCDS56412.1, CCDS75421.1	6p21.3	2013-01-11			ENSG00000204520	ENSG00000204520		"""Immunoglobulin superfamily / C1-set domain containing"""	7090	protein-coding gene	gene with protein product		600169				8022771	Standard	NM_000247		Approved	PERB11.1	uc003ntk.1	Q29983	OTTHUMG00000031073	ENST00000449934.2:c.952delG	6.37:g.31380161delG	ENSP00000413079:p.Gly318fs	Somatic		WXS	Illumina HiSeq	Phase_IV		Frame_Shift_Del	DEL	pfam_MHC_I_a_a1/a2,pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like	p.G318fs	ENST00000449934.2	37	c.952	CCDS56412.1	6																																																																																			MICA	-	NULL		0.453	MICA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	MICA	HGNC	protein_coding	OTTHUMT00000076101.7	G	NM_001177519		31380161	+1	no_errors	ENST00000364810	ensembl	human	known	70_37	frame_shift_del	DEL	0.000	-
MID1	4281	genome.wustl.edu	37	X	10535234	10535234	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:10535234G>C	ENST00000317552.4	-	2	754	c.354C>G	c.(352-354)ctC>ctG	p.L118L	MID1_ENST00000380785.1_Silent_p.L118L|MID1_ENST00000380782.2_Silent_p.L118L|MID1_ENST00000380787.1_Silent_p.L118L|MID1_ENST00000380779.1_Silent_p.L118L|MID1_ENST00000380780.1_Silent_p.L118L|MID1_ENST00000453318.2_Silent_p.L118L	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1	118					microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AAAACTGGCAGAGGACCTTCT	0.592																																																	0													91.0	69.0	77.0					X																	10535234		2203	4300	6503	SO:0001819	synonymous_variant	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.354C>G	X.37:g.10535234G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCG2|O75361|Q9BZX5	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.L118	ENST00000317552.4	37	c.354	CCDS14138.1	X																																																																																			MID1	-	smart_Znf_B-box		0.592	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MID1	HGNC	protein_coding	OTTHUMT00000055738.1	G			10535234	-1	no_errors	ENST00000317552	ensembl	human	known	70_37	silent	SNP	1.000	C
MIIP	60672	genome.wustl.edu	37	1	12091427	12091427	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12091427G>C	ENST00000235332.4	+	9	1216	c.1047G>C	c.(1045-1047)caG>caC	p.Q349H	MIIP_ENST00000466860.1_3'UTR|MIIP_ENST00000436478.2_Missense_Mutation_p.R317T	NM_021933.3	NP_068752.2	Q5JXC2	MIIP_HUMAN	migration and invasion inhibitory protein	349										autonomic_ganglia(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						CCCAGCACCAGAAGCTGTCCG	0.632																																																	0													54.0	57.0	56.0					1																	12091427		2203	4300	6503	SO:0001583	missense	60672			AK022500	CCDS143.1	1p36.22	2009-07-09			ENSG00000116691	ENSG00000116691			25715	protein-coding gene	gene with protein product	"""invasion inhibitory protein 45"""	608772				15867349, 14617774	Standard	NM_021933		Approved	FLJ12438, IIp45	uc001ato.2	Q5JXC2	OTTHUMG00000002439	ENST00000235332.4:c.1047G>C	1.37:g.12091427G>C	ENSP00000235332:p.Gln349His	Somatic		WXS	Illumina HiSeq	Phase_IV	C0KL22|Q96HU6|Q9H839|Q9HA00	Missense_Mutation	SNP	NULL	p.Q349H	ENST00000235332.4	37	c.1047	CCDS143.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.80|14.80	2.643848|2.643848	0.47258|0.47258	.|.	.|.	ENSG00000116691|ENSG00000116691	ENST00000235332|ENST00000436478	T|T	0.12465|0.21543	2.68|2.0	4.07|4.07	3.14|3.14	0.36123|0.36123	.|.	1.761840|.	0.03004|.	N|.	0.148550|.	T|T	0.21881|0.21881	0.0527|0.0527	L|L	0.44542|0.44542	1.39|1.39	0.09310|0.09310	N|N	1|1	D|.	0.61080|.	0.989|.	P|.	0.58172|.	0.834|.	T|T	0.14254|0.14254	-1.0479|-1.0479	10|7	0.38643|0.25106	T|T	0.18|0.35	-4.4749|-4.4749	9.8001|9.8001	0.40759|0.40759	0.0:0.2095:0.7905:0.0|0.0:0.2095:0.7905:0.0	.|.	349|.	Q5JXC2|.	MIIP_HUMAN|.	H|T	349|317	ENSP00000235332:Q349H|ENSP00000392417:R317T	ENSP00000235332:Q349H|ENSP00000392417:R317T	Q|R	+|+	3|2	2|0	MIIP|MIIP	12014014|12014014	0.002000|0.002000	0.14202|0.14202	0.007000|0.007000	0.13788|0.13788	0.029000|0.029000	0.11900|0.11900	0.918000|0.918000	0.28678|0.28678	1.272000|1.272000	0.44329|0.44329	0.591000|0.591000	0.81541|0.81541	CAG|AGA	MIIP	-	NULL		0.632	MIIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIIP	HGNC	protein_coding	OTTHUMT00000006941.1	G	NM_021933		12091427	+1	no_errors	ENST00000235332	ensembl	human	known	70_37	missense	SNP	0.020	C
MIR205HG	642587	genome.wustl.edu	37	1	209603832	209603832	+	lincRNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:209603832C>T	ENST00000384891.1	+	0	0					NR_029622.1				MIR205 host gene (non-protein coding)																		GTGAGGCTCTCTGCACACTCC	0.522																																																	0													117.0	114.0	115.0					1																	209603832		1906	4137	6043			642587					1q32.2	2014-02-12	2011-11-07		ENSG00000230937	ENSG00000230937		"""Long non-coding RNAs"""	43562	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 510"""						Standard	NM_001104548		Approved	LINC00510	uc009xcn.3		OTTHUMG00000036267		1.37:g.209603832C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384891.1	37	NULL		1																																																																																			MIR205HG	-	-		0.522	MIR205HG-202	KNOWN	basic	miRNA	MIR205HG	HGNC	lincRNA		C			209603832	+1	no_errors	ENST00000419143	ensembl	human	known	70_37	rna	SNP	0.052	T
BAHCC1	57597	genome.wustl.edu	37	17	79418141	79418141	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:79418141C>T	ENST00000307745.7	+	16	3976				MIR3186_ENST00000577404.1_RNA																							GCCCCTGGTTCCAAAGCCATC	0.577																																																	0																																										SO:0001627	intron_variant	100422944																														ENST00000307745.7:c.3977-553C>T	17.37:g.79418141C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000307745.7	37	NULL		17																																																																																			MIR3186	-	-		0.577	RP11-1055B8.7-201	KNOWN	basic|appris_principal	protein_coding	MIR3186	HGNC	protein_coding		C			79418141	-1	no_errors	ENST00000577404	ensembl	human	known	70_37	rna	SNP	0.000	T
PLEKHA1	59338	genome.wustl.edu	37	10	124176505	124176505	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:124176505G>C	ENST00000368990.3	+	8	743				PLEKHA1_ENST00000433307.1_Intron|PLEKHA1_ENST00000538022.1_Intron|PLEKHA1_ENST00000368989.2_Intron|MIR3941_ENST00000582572.1_RNA|PLEKHA1_ENST00000368988.1_Intron	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1						androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATCAGGCTGTGATGCTCAGTT	0.423																																																	0																																										SO:0001627	intron_variant	100500866			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.613-911G>C	10.37:g.124176505G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ55|D3DRE2|Q9BVK0	RNA	SNP	-	NULL	ENST00000368990.3	37	NULL	CCDS7629.1	10																																																																																			MIR3941	-	-		0.423	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR3941	HGNC	protein_coding	OTTHUMT00000050783.1	G	NM_001001974		124176505	+1	no_errors	ENST00000582572	ensembl	human	known	70_37	rna	SNP	0.000	C
MIR518A1	574488	genome.wustl.edu	37	19	54234341	54234341	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:54234341G>C	ENST00000385068.1	+	0	82				MIR518E_ENST00000385252.1_RNA|RNU6-980P_ENST00000516925.1_RNA	NR_030210.1				microRNA 518a-1																		ATTACGGTTTGAGAAAAACAA	0.473																																																	0													82.0	81.0	81.0					19																	54234341		1568	3582	5150			574488					19q13.42	2011-09-12		2008-12-18	ENSG00000207803	ENSG00000207803		"""ncRNAs / Micro RNAs"""	32120	non-coding RNA	RNA, micro				MIRN518A-1, MIRN518A1			Standard	NR_030210		Approved	hsa-mir-518a-1	uc021van.1				19.37:g.54234341G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000385068.1	37	NULL		19																																																																																			MIR518A1	-	-		0.473	MIR518A1-201	KNOWN	basic	miRNA	MIR518A1	HGNC	miRNA		G	NR_030210		54234341	+1	no_errors	ENST00000385068	ensembl	human	known	70_37	rna	SNP	0.005	C
STRBP	55342	genome.wustl.edu	37	9	125872650	125872650	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:125872650C>G	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACAGGCCCATCAGCCTCACTG	0.547																																																	0																																										SO:0001627	intron_variant	81571			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-618G>C	9.37:g.125872650C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-		0.547	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	C			125872650	-1	no_errors	ENST00000449175	ensembl	human	known	70_37	rna	SNP	0.000	G
STRBP	55342	genome.wustl.edu	37	9	125873068	125873068	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:125873068C>G	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						AGTAACATTTCTAAAAATGAG	0.542																																																	0																																										SO:0001627	intron_variant	81571			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-1036G>C	9.37:g.125873068C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-		0.542	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	C			125873068	-1	no_errors	ENST00000449175	ensembl	human	known	70_37	rna	SNP	0.000	G
STRBP	55342	genome.wustl.edu	37	9	125876611	125876611	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:125876611C>G	ENST00000530364.1	-	2	31				MIR600HG_ENST00000385007.1_RNA			Q96SI9	STRBP_HUMAN	spermatid perinuclear RNA binding protein						cellular component movement (GO:0006928)|mechanosensory behavior (GO:0007638)|multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						TTCCGTCCTTCAAGAACTTGG	0.473																																																	0																																										SO:0001627	intron_variant	81571			AK002169	CCDS6851.1, CCDS55337.1	9q33.1-q33.3	2008-08-29	2001-11-28		ENSG00000165209	ENSG00000165209			16462	protein-coding gene	gene with protein product		611138	"""spermatid perinuclear RNA-binding protein"", ""interleukin enhancer binding factor 3-like"""	ILF3L			Standard	NM_018387		Approved	FLJ11307, SPNR	uc004bns.3	Q96SI9	OTTHUMG00000020636	ENST00000530364.1:c.255-4579G>C	9.37:g.125876611C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32NB9|Q9BUE1|Q9BXG4|Q9H0B4|Q9H7V1|Q9NUK4	RNA	SNP	-	NULL	ENST00000530364.1	37	NULL		9																																																																																			MIR600HG	-	-		0.473	STRBP-009	PUTATIVE	basic	processed_transcript	MIR600HG	HGNC	protein_coding	OTTHUMT00000392598.1	C			125876611	-1	no_errors	ENST00000449175	ensembl	human	known	70_37	rna	SNP	0.000	G
MIR646HG	284757	genome.wustl.edu	37	20	58883613	58883613	+	lincRNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:58883613C>G	ENST00000432910.1	+	0	332				MIR646_ENST00000385067.1_RNA	NR_046099.1																						tctgaggcctcaggctcagtg	0.567																																																	0													65.0	64.0	65.0					20																	58883613		1568	3582	5150			693231																															20.37:g.58883613C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000432910.1	37	NULL		20																																																																																			MIR646	-	-		0.567	RP5-1043L13.1-001	KNOWN	basic	lincRNA	MIR646	HGNC	lincRNA	OTTHUMT00000079947.1	C			58883613	+1	no_errors	ENST00000385067	ensembl	human	known	70_37	rna	SNP	0.000	G
MKS1	54903	genome.wustl.edu	37	17	56295993	56295993	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:56295993G>T	ENST00000393119.2	-	2	252	c.178C>A	c.(178-180)Cag>Aag	p.Q60K	MKS1_ENST00000313863.6_Missense_Mutation_p.Q60K|MKS1_ENST00000337050.7_Missense_Mutation_p.Q60K|LPO_ENST00000582328.1_5'UTR|MKS1_ENST00000537529.2_Missense_Mutation_p.Q50K|MKS1_ENST00000546108.1_5'UTR	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	60					branching morphogenesis of an epithelial tube (GO:0048754)|cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|membrane (GO:0016020)|TCTN-B9D complex (GO:0036038)				endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GCAGTTGGCTGAGGCCTAAAA	0.448																																																	0													85.0	82.0	83.0					17																	56295993		1980	4161	6141	SO:0001583	missense	54903			DQ185029	CCDS11603.2, CCDS54148.1	17q21-q24	2014-09-17			ENSG00000011143	ENSG00000011143			7121	protein-coding gene	gene with protein product	"""POC12 centriolar protein homolog (Chlamydomonas)"""	609883		MKS		7550354, 16415886, 18327255	Standard	NM_017777		Approved	FLJ20345, POC12, BBS13	uc002ivr.2	Q9NXB0	OTTHUMG00000133714	ENST00000393119.2:c.178C>A	17.37:g.56295993G>T	ENSP00000376827:p.Gln60Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNX4|F5H885|Q284T0|Q96G13	Missense_Mutation	SNP	pfam_B9_dom	p.Q60K	ENST00000393119.2	37	c.178	CCDS11603.2	17	.	.	.	.	.	.	.	.	.	.	G	11.67	1.709183	0.30322	.	.	ENSG00000011143	ENST00000537529;ENST00000393120;ENST00000393119;ENST00000337050	T;T;T;T	0.67698	-0.28;1.56;-0.24;-0.0	5.65	3.54	0.40534	.	1.434490	0.05007	U	0.470243	T	0.44244	0.1284	N	0.08118	0	0.20926	N	0.999822	B;B	0.10296	0.003;0.0	B;B	0.09377	0.004;0.001	T	0.34950	-0.9808	10	0.09084	T	0.74	-6.2187	7.089	0.25273	0.0906:0.1734:0.736:0.0	.	60;60	A8MPP8;Q9NXB0	.;MKS1_HUMAN	K	50;60;60;60	ENSP00000442096:Q50K;ENSP00000376828:Q60K;ENSP00000376827:Q60K;ENSP00000338407:Q60K	ENSP00000338407:Q60K	Q	-	1	0	MKS1	53650992	0.887000	0.30362	0.597000	0.28824	0.964000	0.63967	2.243000	0.43115	1.388000	0.46506	0.643000	0.83706	CAG	MKS1	-	NULL		0.448	MKS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MKS1	HGNC	protein_coding	OTTHUMT00000258015.2	G	NM_017777		56295993	-1	no_errors	ENST00000393119	ensembl	human	known	70_37	missense	SNP	0.109	T
KMT2A	4297	genome.wustl.edu	37	11	118376214	118376214	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:118376214G>C	ENST00000389506.5	+	27	9598	c.9598G>C	c.(9598-9600)Gaa>Caa	p.E3200Q	KMT2A_ENST00000354520.4_Missense_Mutation_p.E3162Q|KMT2A_ENST00000534358.1_Missense_Mutation_p.E3203Q			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3200					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTTGGTTTCAGAATCCAGCCA	0.488																																																	0													79.0	84.0	82.0					11																	118376214		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.9598G>C	11.37:g.118376214G>C	ENSP00000374157:p.Glu3200Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.E3200Q	ENST00000389506.5	37	c.9598	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660118	0.47572	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.85773	-2.02;-2.03;-1.98	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	D	0.91751	0.7391	M	0.67397	2.05	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.994;0.994	D	0.90590	0.4536	10	0.46703	T	0.11	.	19.7069	0.96076	0.0:0.0:1.0:0.0	.	3203;3200	E9PQG7;Q03164	.;MLL1_HUMAN	Q	3203;3200;3162;2110	ENSP00000436786:E3203Q;ENSP00000374157:E3200Q;ENSP00000346516:E3162Q	ENSP00000346516:E3162Q	E	+	1	0	MLL	117881424	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.263000	0.95617	2.894000	0.99253	0.591000	0.81541	GAA	MLL	-	pirsf_MeTrfase_trithorax		0.488	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	G	NM_005933		118376214	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	C
KMT2A	4297	genome.wustl.edu	37	11	118390715	118390715	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:118390715C>T	ENST00000389506.5	+	33	11356	c.11356C>T	c.(11356-11358)Cgt>Tgt	p.R3786C	KMT2A_ENST00000354520.4_Missense_Mutation_p.R3748C|RP11-770J1.3_ENST00000556583.1_RNA|RP11-770J1.3_ENST00000532597.1_RNA|RP11-770J1.3_ENST00000554407.1_RNA|RP11-770J1.3_ENST00000525992.2_RNA|KMT2A_ENST00000534358.1_Missense_Mutation_p.R3789C|RP11-770J1.3_ENST00000528578.1_RNA			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	3786					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TTCTAAACATCGTCAGCCTCC	0.423																																																	0													95.0	91.0	92.0					11																	118390715		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.11356C>T	11.37:g.118390715C>T	ENSP00000374157:p.Arg3786Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.R3786C	ENST00000389506.5	37	c.11356	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	19.03	3.748583	0.69533	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.84660	-1.88;-1.88;-1.84	5.9	4.96	0.65561	.	0.000000	0.85682	D	0.000000	D	0.93138	0.7815	M	0.86953	2.85	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	D	0.93903	0.7190	10	0.87932	D	0	.	16.4669	0.84081	0.1317:0.8683:0.0:0.0	.	3789;3786	E9PQG7;Q03164	.;MLL1_HUMAN	C	3789;3786;3748;2696	ENSP00000436786:R3789C;ENSP00000374157:R3786C;ENSP00000346516:R3748C	ENSP00000346516:R3748C	R	+	1	0	MLL	117895925	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.787000	0.55439	2.786000	0.95864	0.563000	0.77884	CGT	MLL	-	pirsf_MeTrfase_trithorax		0.423	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	C	NM_005933		118390715	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	1.000	T
KMT2C	58508	genome.wustl.edu	37	7	151877103	151877103	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:151877103G>C	ENST00000262189.6	-	37	7476	c.7258C>G	c.(7258-7260)Ctt>Gtt	p.L2420V	KMT2C_ENST00000355193.2_Missense_Mutation_p.L2420V	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	2420	Pro-rich.				histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CAGTGTTGAAGAGGCCCTGGA	0.542																																																	0													238.0	202.0	214.0					7																	151877103		2203	4300	6503	SO:0001583	missense	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.7258C>G	7.37:g.151877103G>C	ENSP00000262189:p.Leu2420Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.L2420V	ENST00000262189.6	37	c.7258	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	12.07	1.828159	0.32329	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.83335	-1.71;-1.71	5.5	5.5	0.81552	.	0.000000	0.39615	N	0.001306	T	0.77425	0.4128	L	0.57536	1.79	0.80722	D	1	B;P	0.39022	0.172;0.655	B;B	0.35039	0.035;0.194	T	0.74819	-0.3535	10	0.10636	T	0.68	.	15.0445	0.71816	0.0:0.0:0.8573:0.1427	.	2420;1481	Q8NEZ4;Q8NEZ4-2	MLL3_HUMAN;.	V	2420	ENSP00000262189:L2420V;ENSP00000347325:L2420V	ENSP00000262189:L2420V	L	-	1	0	MLL3	151508036	1.000000	0.71417	0.990000	0.47175	0.962000	0.63368	4.521000	0.60532	2.578000	0.87016	0.650000	0.86243	CTT	MLL3	-	NULL		0.542	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	G			151877103	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	missense	SNP	0.802	C
KMT2B	9757	genome.wustl.edu	37	19	36220184	36220184	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:36220184G>A	ENST00000222270.7	+	22	4904	c.4904G>A	c.(4903-4905)cGa>cAa	p.R1635Q	KMT2B_ENST00000420124.1_Missense_Mutation_p.R1635Q|KMT2B_ENST00000607650.1_RNA	NM_014727.1	NP_055542.1	Q9UMN6	KMT2B_HUMAN	lysine (K)-specific methyltransferase 2B	1635					chromatin-mediated maintenance of transcription (GO:0048096)|gene silencing (GO:0016458)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|oocyte differentiation (GO:0009994)|ovarian follicle development (GO:0001541)|ovulation (GO:0030728)|regulation of histone H3-K4 methylation (GO:0051569)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCTGTGGCCCGAGGGAGGCAG	0.617																																																	0													34.0	34.0	34.0					19																	36220184		2119	4237	6356	SO:0001583	missense	9757			AJ007041	CCDS46055.1	19q13.1	2014-02-18			ENSG00000105663	ENSG00000272333		"""Chromatin-modifying enzymes / K-methyltransferases"""	15840	protein-coding gene	gene with protein product	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) 4"""	606834				10409430, 10637508	Standard	XM_006723513		Approved	KIAA0304, MLL2, TRX2, HRX2, WBP7, MLL1B, MLL4		Q9UMN6	OTTHUMG00000048119	ENST00000222270.7:c.4904G>A	19.37:g.36220184G>A	ENSP00000222270:p.Arg1635Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O15022|O95836|Q96GP2|Q96IP3|Q9UK25|Q9Y668|Q9Y669	Missense_Mutation	SNP	pirsf_MeTrfase_trithorax,pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC	p.R1635Q	ENST00000222270.7	37	c.4904	CCDS46055.1	19	.	.	.	.	.	.	.	.	.	.	G	22.4	4.278382	0.80692	.	.	ENSG00000105663	ENST00000222270;ENST00000420124	T;T	0.71341	-0.56;-0.56	5.2	5.2	0.72013	.	0.000000	0.37483	N	0.002063	T	0.81592	0.4855	L	0.60012	1.86	0.58432	D	0.999992	D	0.89917	1.0	D	0.87578	0.998	T	0.82717	-0.0319	10	0.72032	D	0.01	.	15.7662	0.78128	0.0:0.0:1.0:0.0	.	1635	Q9UMN6	MLL4_HUMAN	Q	1635	ENSP00000222270:R1635Q;ENSP00000398837:R1635Q	ENSP00000222270:R1635Q	R	+	2	0	AD000671.1	40912024	1.000000	0.71417	0.997000	0.53966	0.975000	0.68041	9.550000	0.98110	2.711000	0.92665	0.655000	0.94253	CGA	WBP7	-	pirsf_MeTrfase_trithorax		0.617	KMT2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL4	Uniprot_genename	protein_coding		G	NM_014727		36220184	+1	no_errors	ENST00000222270	ensembl	human	known	70_37	missense	SNP	1.000	A
KMT2E	55904	genome.wustl.edu	37	7	104752965	104752965	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:104752965C>G	ENST00000311117.3	+	27	5307	c.4762C>G	c.(4762-4764)Caa>Gaa	p.Q1588E	SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000334877.4_Missense_Mutation_p.Q1546E|KMT2E_ENST00000257745.4_Missense_Mutation_p.Q1588E	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1588	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										AGGACCAAATCAAGCACTTCC	0.453																																																	0													135.0	127.0	130.0					7																	104752965		2203	4300	6503	SO:0001583	missense	55904			AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4762C>G	7.37:g.104752965C>G	ENSP00000312379:p.Gln1588Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Missense_Mutation	SNP	pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_PHD-finger	p.Q1588E	ENST00000311117.3	37	c.4762	CCDS34723.1	7	.	.	.	.	.	.	.	.	.	.	C	10.74	1.435252	0.25813	.	.	ENSG00000005483	ENST00000311117;ENST00000334877;ENST00000351043;ENST00000257745	D;D;D	0.93247	-3.19;-3.17;-3.19	3.34	3.34	0.38264	.	0.168583	0.28082	N	0.016670	D	0.91845	0.7419	N	0.24115	0.695	0.80722	D	1	D;P	0.56287	0.975;0.924	P;P	0.59424	0.627;0.857	D	0.89093	0.3484	10	0.17369	T	0.5	.	15.0453	0.71822	0.0:1.0:0.0:0.0	.	1508;1588	F8W6H1;Q8IZD2	.;MLL5_HUMAN	E	1588;1546;1508;1588	ENSP00000312379:Q1588E;ENSP00000335599:Q1546E;ENSP00000257745:Q1588E	ENSP00000257745:Q1588E	Q	+	1	0	MLL5	104540201	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.360000	0.66086	1.578000	0.49821	0.305000	0.20034	CAA	MLL5	-	NULL		0.453	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLL5	HGNC	protein_coding	OTTHUMT00000348697.1	C			104752965	+1	no_errors	ENST00000257745	ensembl	human	known	70_37	missense	SNP	1.000	G
MMP16	4325	genome.wustl.edu	37	8	89180138	89180138	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:89180138C>G	ENST00000286614.6	-	4	750	c.469G>C	c.(469-471)Gat>Cat	p.D157H	MMP16_ENST00000544227.1_5'UTR	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	157					chondrocyte proliferation (GO:0035988)|collagen catabolic process (GO:0030574)|craniofacial suture morphogenesis (GO:0097094)|embryonic cranial skeleton morphogenesis (GO:0048701)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of catalytic activity (GO:0043085)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|enzyme activator activity (GO:0008047)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81					Marimastat(DB00786)	TGCCACACATCAAAGGCACGG	0.368																																																	0													111.0	100.0	104.0					8																	89180138		2203	4300	6503	SO:0001583	missense	4325			D85511	CCDS6246.1	8q21	2009-01-09	2005-08-08		ENSG00000156103	ENSG00000156103			7162	protein-coding gene	gene with protein product		602262	"""matrix metalloproteinase 16 (membrane-inserted)"", ""chromosome 8 open reading frame 57"""	C8orf57		7559440	Standard	NM_005941		Approved	MT3-MMP, DKFZp761D112	uc003yeb.4	P51512	OTTHUMG00000163769	ENST00000286614.6:c.469G>C	8.37:g.89180138C>G	ENSP00000286614:p.Asp157His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAN7|Q14824|Q52H48	Missense_Mutation	SNP	pfam_Hemopexin/matrixin_repeat,pfam_Pept_M10_metallopeptidase,pfam_Pept_M10A_metallopeptidase_C,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin/matrixin,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.D157H	ENST00000286614.6	37	c.469	CCDS6246.1	8	.	.	.	.	.	.	.	.	.	.	C	22.2	4.259120	0.80246	.	.	ENSG00000156103	ENST00000286614	T	0.53206	0.63	6.16	6.16	0.99307	Peptidase M10, metallopeptidase (1);Peptidase, metallopeptidase (1);Metallopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.69548	0.3123	M	0.65498	2.005	0.80722	D	1	D;B	0.89917	1.0;0.192	D;B	0.72338	0.977;0.235	T	0.67150	-0.5743	10	0.56958	D	0.05	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	157;157	P51512-2;P51512	.;MMP16_HUMAN	H	157	ENSP00000286614:D157H	ENSP00000286614:D157H	D	-	1	0	MMP16	89249254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.754000	0.85163	2.937000	0.99478	0.650000	0.86243	GAT	MMP16	-	pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin		0.368	MMP16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP16	HGNC	protein_coding	OTTHUMT00000375304.2	C	NM_005941		89180138	-1	no_errors	ENST00000286614	ensembl	human	known	70_37	missense	SNP	1.000	G
MOCOS	55034	genome.wustl.edu	37	18	33795780	33795780	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:33795780C>G	ENST00000261326.5	+	8	1658	c.1637C>G	c.(1636-1638)tCt>tGt	p.S546C		NM_017947.2	NP_060417.2			molybdenum cofactor sulfurase											breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						AACAACTCGTCTACTGTGAAT	0.587																																																	0													73.0	66.0	68.0					18																	33795780		2203	4300	6503	SO:0001583	missense	55034			AK000740	CCDS11919.1	18q12	2003-12-18			ENSG00000075643	ENSG00000075643			18234	protein-coding gene	gene with protein product		613274				11302742	Standard	NM_017947		Approved	HMCS, FLJ20733, MOS	uc002kzq.4	Q96EN8	OTTHUMG00000132590	ENST00000261326.5:c.1637C>G	18.37:g.33795780C>G	ENSP00000261326:p.Ser546Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MOSC_N,pfam_MoCF_Sase_C,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,superfamily_Pyrv_Knase-like_insert_dom	p.S546C	ENST00000261326.5	37	c.1637	CCDS11919.1	18	.	.	.	.	.	.	.	.	.	.	C	10.89	1.477199	0.26511	.	.	ENSG00000075643	ENST00000261326	T	0.15952	2.38	5.05	-0.743	0.11105	.	0.891179	0.10014	N	0.726783	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	P	0.34837	0.472	B	0.32624	0.149	T	0.29427	-1.0012	10	0.56958	D	0.05	-1.2276	3.2385	0.06772	0.2776:0.2231:0.4072:0.0922	.	546	Q96EN8	MOCOS_HUMAN	C	546	ENSP00000261326:S546C	ENSP00000261326:S546C	S	+	2	0	MOCOS	32049778	.	.	0.000000	0.03702	0.006000	0.05464	.	.	0.146000	0.19002	0.462000	0.41574	TCT	MOCOS	-	NULL		0.587	MOCOS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MOCOS	HGNC	protein_coding	OTTHUMT00000255801.1	C			33795780	+1	no_errors	ENST00000261326	ensembl	human	known	70_37	missense	SNP	0.000	G
MPHOSPH8	54737	genome.wustl.edu	37	13	20224391	20224391	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:20224391G>A	ENST00000361479.5	+	5	1635	c.1567G>A	c.(1567-1569)Gag>Aag	p.E523K	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.E523K	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	523					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		CCAAGCAGATGAGAATTCAGG	0.403																																																	0													140.0	121.0	128.0					13																	20224391		2203	4300	6503	SO:0001583	missense	54737			AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.1567G>A	13.37:g.20224391G>A	ENSP00000355388:p.Glu523Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Chromo_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Chromo_domain/shadow	p.E523K	ENST00000361479.5	37	c.1567	CCDS9287.1	13	.	.	.	.	.	.	.	.	.	.	G	16.29	3.082446	0.55861	.	.	ENSG00000196199	ENST00000414242;ENST00000361479;ENST00000538024	T;T	0.34275	1.38;1.37	5.66	5.66	0.87406	.	0.566396	0.18260	N	0.146665	T	0.50803	0.1637	L	0.43152	1.355	0.40360	D	0.979234	D;B;B	0.69078	0.997;0.15;0.383	D;B;B	0.66196	0.942;0.046;0.116	T	0.21655	-1.0239	10	0.11794	T	0.64	.	20.0973	0.97856	0.0:0.0:1.0:0.0	.	523;523;523	F5H8H9;Q99549;Q99549-2	.;MPP8_HUMAN;.	K	523	ENSP00000414663:E523K;ENSP00000355388:E523K	ENSP00000355388:E523K	E	+	1	0	MPHOSPH8	19122391	1.000000	0.71417	0.116000	0.21606	0.025000	0.11179	3.331000	0.52075	2.830000	0.97506	0.585000	0.79938	GAG	MPHOSPH8	-	NULL		0.403	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH8	HGNC	protein_coding	OTTHUMT00000044028.2	G	NM_017520		20224391	+1	no_errors	ENST00000414242	ensembl	human	known	70_37	missense	SNP	0.895	A
MPP3	4356	genome.wustl.edu	37	17	41888516	41888516	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41888516G>A	ENST00000398389.4	-	17	1478	c.1313C>T	c.(1312-1314)tCt>tTt	p.S438F	MPP3_ENST00000475450.1_5'Flank|MPP3_ENST00000398393.1_Missense_Mutation_p.S463F	NM_001932.4	NP_001923.2	Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	438	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)	guanylate kinase activity (GO:0004385)			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		TGCTTGCTTAGACACAAAGTG	0.463																																																	0													128.0	122.0	124.0					17																	41888516		1932	4147	6079	SO:0001583	missense	4356				CCDS42344.1	17q12-q21	2008-07-18			ENSG00000161647	ENSG00000161647			7221	protein-coding gene	gene with protein product	"""MAGUK p55 subfamily member 3"", ""discs, large (Drosophila) homolog 3"", ""membrane protein palmitoylated 3"""	601114		DLG3		8824795	Standard	NR_003562		Approved		uc002iei.4	Q13368	OTTHUMG00000133838	ENST00000398389.4:c.1313C>T	17.37:g.41888516G>A	ENSP00000381425:p.Ser438Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7N0|D3DX47|Q4GX05|Q6PGR3|Q86SV1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.S438F	ENST00000398389.4	37	c.1313	CCDS42344.1	17	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500449	0.85176	.	.	ENSG00000161647	ENST00000398393;ENST00000398389	T;T	0.22743	1.94;1.94	5.38	5.38	0.77491	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (2);	0.056515	0.64402	D	0.000001	T	0.57460	0.2055	M	0.92833	3.35	0.58432	D	0.999999	D;D	0.89917	0.999;1.0	D;D	0.76575	0.988;0.988	T	0.67393	-0.5682	10	0.87932	D	0	.	17.5023	0.87735	0.0:0.0:1.0:0.0	.	438;463	Q13368;D3DX46	MPP3_HUMAN;.	F	463;438	ENSP00000381430:S463F;ENSP00000381425:S438F	ENSP00000381425:S438F	S	-	2	0	MPP3	39244042	1.000000	0.71417	0.997000	0.53966	0.681000	0.39784	6.916000	0.75776	2.793000	0.96121	0.655000	0.94253	TCT	MPP3	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.463	MPP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP3	HGNC	protein_coding	OTTHUMT00000258371.1	G	NM_001932		41888516	-1	no_errors	ENST00000398389	ensembl	human	known	70_37	missense	SNP	0.998	A
MPP5	64398	genome.wustl.edu	37	14	67759227	67759227	+	Splice_Site	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:67759227G>A	ENST00000261681.4	+	4	1028		c.e4-1		MPP5_ENST00000555925.1_Splice_Site	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)						cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		TCTTCTACTAGAAATAGAAGA	0.303																																																	0													49.0	47.0	48.0					14																	67759227		2202	4299	6501	SO:0001630	splice_region_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.368-1G>A	14.37:g.67759227G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Splice_Site	SNP	-	e2-1	ENST00000261681.4	37	c.368-1	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	18.61	3.661816	0.67700	.	.	ENSG00000072415	ENST00000261681;ENST00000555925;ENST00000557783	.	.	.	5.6	5.6	0.85130	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.6084	0.95588	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MPP5	66828980	1.000000	0.71417	1.000000	0.80357	0.668000	0.39293	8.953000	0.93041	2.630000	0.89119	0.460000	0.39030	.	MPP5	-	-		0.303	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474	Intron	67759227	+1	no_errors	ENST00000261681	ensembl	human	known	70_37	splice_site	SNP	1.000	A
MPP5	64398	genome.wustl.edu	37	14	67759236	67759236	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:67759236G>A	ENST00000261681.4	+	4	1037	c.376G>A	c.(376-378)Gac>Aac	p.D126N	MPP5_ENST00000555925.1_Missense_Mutation_p.D92N	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	126	Interaction with PARD6B. {ECO:0000250}.|L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGAAATAGAAGACTTGTTTTC	0.308																																																	0													59.0	56.0	57.0					14																	67759236		2202	4300	6502	SO:0001583	missense	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.376G>A	14.37:g.67759236G>A	ENSP00000261681:p.Asp126Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.D126N	ENST00000261681.4	37	c.376	CCDS9779.1	14	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891648	0.72524	.	.	ENSG00000072415	ENST00000261681;ENST00000555925;ENST00000557783	T;T	0.08282	3.11;3.11	5.6	5.6	0.85130	L27-N (1);L27 (2);	0.222686	0.48767	D	0.000174	T	0.08268	0.0206	N	0.24115	0.695	0.80722	D	1	B	0.31459	0.324	B	0.30179	0.112	T	0.34750	-0.9816	10	0.34782	T	0.22	.	19.6084	0.95588	0.0:0.0:1.0:0.0	.	126	Q8N3R9	MPP5_HUMAN	N	126;92;92	ENSP00000261681:D126N;ENSP00000451488:D92N	ENSP00000261681:D126N	D	+	1	0	MPP5	66828989	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	8.953000	0.93041	2.630000	0.89119	0.460000	0.39030	GAC	MPP5	-	pfam_L27_N,smart_L27,pfscan_L27		0.308	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67759236	+1	no_errors	ENST00000261681	ensembl	human	known	70_37	missense	SNP	1.000	A
MPP5	64398	genome.wustl.edu	37	14	67759340	67759340	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:67759340G>A	ENST00000261681.4	+	4	1141	c.480G>A	c.(478-480)caG>caA	p.Q160Q	MPP5_ENST00000555925.1_Silent_p.Q126Q	NM_022474.3	NP_071919.2	Q8N3R9	MPP5_HUMAN	membrane protein, palmitoylated 5 (MAGUK p55 subfamily member 5)	160	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|establishment of protein localization to plasma membrane (GO:0090002)|morphogenesis of an epithelial sheet (GO:0002011)|myelin assembly (GO:0032288)|peripheral nervous system myelin maintenance (GO:0032287)|protein localization to myelin sheath abaxonal region (GO:0035750)|tight junction assembly (GO:0070830)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lateral loop (GO:0043219)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein domain specific binding (GO:0019904)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	18				all cancers(60;0.000388)|OV - Ovarian serous cystadenocarcinoma(108;0.00762)|BRCA - Breast invasive adenocarcinoma(234;0.0106)		AGGATTTCCAGAATGCATTTA	0.383																																																	0													153.0	137.0	142.0					14																	67759340		2203	4300	6503	SO:0001819	synonymous_variant	64398			AK022677	CCDS9779.1, CCDS58325.1	14q23.3	2008-08-11				ENSG00000072415			18669	protein-coding gene	gene with protein product	"""stardust"""	606958				11927608	Standard	NM_022474		Approved	PALS1, FLJ12615	uc001xjc.4	Q8N3R9		ENST00000261681.4:c.480G>A	14.37:g.67759340G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L380|Q7Z631|Q86T98|Q8N7I5|Q9H9Q0	Silent	SNP	pfam_Guanylate_kin,pfam_L27_N,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,pfam_L27_C,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin	p.Q160	ENST00000261681.4	37	c.480	CCDS9779.1	14																																																																																			MPP5	-	pfam_L27_N,smart_L27,pfscan_L27		0.383	MPP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP5	HGNC	protein_coding	OTTHUMT00000412498.1	G	NM_022474		67759340	+1	no_errors	ENST00000261681	ensembl	human	known	70_37	silent	SNP	1.000	A
MPP7	143098	genome.wustl.edu	37	10	28358735	28358735	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:28358735G>A	ENST00000375732.1	-	13	1429	c.1170C>T	c.(1168-1170)atC>atT	p.I390I	MPP7_ENST00000540098.1_Silent_p.I390I|MPP7_ENST00000337532.5_Silent_p.I390I|MPP7_ENST00000375719.3_Silent_p.I390I|MPP7_ENST00000445954.2_Silent_p.I265I			Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	390	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				establishment of cell polarity (GO:0030010)|positive regulation of protein complex assembly (GO:0031334)|positive regulation of signal transduction (GO:0009967)|protein localization to adherens junction (GO:0071896)|tight junction assembly (GO:0070830)	adherens junction (GO:0005912)|cell junction (GO:0030054)|mitochondrion (GO:0005739)|MPP7-DLG1-LIN7 complex (GO:0097025)|tight junction (GO:0005923)	protein complex scaffold (GO:0032947)|protein domain specific binding (GO:0019904)|protein heterodimerization activity (GO:0046982)|signaling adaptor activity (GO:0035591)			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GGGTGTCACTGATCAGCAGCT	0.413																																																	0													127.0	90.0	103.0					10																	28358735		2203	4300	6503	SO:0001819	synonymous_variant	143098			BC038105	CCDS7158.1	10p12.1	2004-01-15			ENSG00000150054	ENSG00000150054			26542	protein-coding gene	gene with protein product		610973				14719143	Standard	NM_173496		Approved	FLJ32798	uc001iua.1	Q5T2T1	OTTHUMG00000017868	ENST00000375732.1:c.1170C>T	10.37:g.28358735G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCC9|B4DWL9|B5MDZ3|D3DRW3|Q5T2T0|Q8IY28	Silent	SNP	pfam_Guanylate_kin,pfam_L27_C,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_SH3_domain,superfamily_PDZ,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Guanylate_kin,prints_SH3_domain	p.I390	ENST00000375732.1	37	c.1170	CCDS7158.1	10																																																																																			MPP7	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.413	MPP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPP7	HGNC	protein_coding	OTTHUMT00000047345.1	G	NM_173496		28358735	-1	no_errors	ENST00000337532	ensembl	human	known	70_37	silent	SNP	1.000	A
MRC2	9902	genome.wustl.edu	37	17	60742246	60742246	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60742246G>C	ENST00000303375.5	+	2	858	c.456G>C	c.(454-456)caG>caC	p.Q152H		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	152	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GTGGTGACCAGACCCGCAGTG	0.657																																																	0													52.0	51.0	51.0					17																	60742246		2203	4300	6503	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.456G>C	17.37:g.60742246G>C	ENSP00000307513:p.Gln152His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.Q152H	ENST00000303375.5	37	c.456	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	14.30	2.493742	0.44352	.	.	ENSG00000011028	ENST00000303375	T	0.05717	3.4	5.23	4.24	0.50183	Ricin B-related lectin (1);Ricin B lectin (1);	0.414724	0.25881	N	0.027682	T	0.07593	0.0191	L	0.44542	1.39	0.80722	D	1	P	0.52842	0.956	P	0.45913	0.497	T	0.23691	-1.0181	10	0.46703	T	0.11	-15.947	6.6771	0.23100	0.1513:0.1509:0.6977:0.0	.	152	Q9UBG0	MRC2_HUMAN	H	152	ENSP00000307513:Q152H	ENSP00000307513:Q152H	Q	+	3	2	MRC2	58095978	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	1.919000	0.40015	1.171000	0.42768	0.561000	0.74099	CAG	MRC2	-	superfamily_Ricin_B_lectin,smart_Ricin_B_lectin		0.657	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	G			60742246	+1	no_errors	ENST00000303375	ensembl	human	known	70_37	missense	SNP	0.986	C
MRC2	9902	genome.wustl.edu	37	17	60751508	60751508	+	Missense_Mutation	SNP	G	G	A	rs370162640		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:60751508G>A	ENST00000303375.5	+	9	1948	c.1546G>A	c.(1546-1548)Gag>Aag	p.E516K		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	516					collagen catabolic process (GO:0030574)|endocytosis (GO:0006897)|osteoblast differentiation (GO:0001649)	focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|collagen binding (GO:0005518)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GGGGGCCGCCGAGGAGGACCA	0.642																																																	0								G	LYS/GLU	0,4336		0,0,2168	27.0	22.0	24.0		1546	5.5	0.7	17		24	2,8470		0,2,4234	no	missense	MRC2	NM_006039.3	56	0,2,6402	AA,AG,GG		0.0236,0.0,0.0156	possibly-damaging	516/1480	60751508	2,12806	2168	4236	6404	SO:0001583	missense	9902			AB014609	CCDS11634.1	17q23	2011-08-30				ENSG00000011028		"""CD molecules"", ""C-type lectin domain containing"""	16875	protein-coding gene	gene with protein product		612264				9734811, 8702911	Standard	NM_006039		Approved	KIAA0709, ENDO180, CLEC13E, CD280	uc002jad.4	Q9UBG0		ENST00000303375.5:c.1546G>A	17.37:g.60751508G>A	ENSP00000307513:p.Glu516Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8K4|D3DU08|Q7LGE7|Q9Y5P9	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_FN_type2_col-bd,pfam_Herpes_UL45-like,superfamily_C-type_lectin_fold,superfamily_Ricin_B_lectin,superfamily_Kringle-like,smart_Ricin_B_lectin,smart_FN_type2_col-bd,smart_C-type_lectin,pfscan_FN_type2_col-bd,pfscan_C-type_lectin,pfscan_Ricin_B_lectin,prints_AntifreezeII	p.E516K	ENST00000303375.5	37	c.1546	CCDS11634.1	17	.	.	.	.	.	.	.	.	.	.	G	14.32	2.501549	0.44455	0.0	2.36E-4	ENSG00000011028	ENST00000303375	T	0.06068	3.35	5.46	5.46	0.80206	C-type lectin-like (1);	0.423819	0.22627	N	0.057623	T	0.06188	0.0160	L	0.45137	1.4	0.80722	D	1	P	0.36483	0.555	B	0.23716	0.048	T	0.42699	-0.9436	10	0.10377	T	0.69	-11.8832	18.9181	0.92515	0.0:0.0:1.0:0.0	.	516	Q9UBG0	MRC2_HUMAN	K	516	ENSP00000307513:E516K	ENSP00000307513:E516K	E	+	1	0	MRC2	58105240	1.000000	0.71417	0.727000	0.30756	0.011000	0.07611	9.220000	0.95180	2.560000	0.86352	0.655000	0.94253	GAG	MRC2	-	NULL		0.642	MRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRC2	HGNC	protein_coding	OTTHUMT00000445152.1	G			60751508	+1	no_errors	ENST00000303375	ensembl	human	known	70_37	missense	SNP	0.927	A
MRE11A	4361	genome.wustl.edu	37	11	94204765	94204765	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:94204765G>C	ENST00000323929.3	-	8	1042	c.820C>G	c.(820-822)Ctt>Gtt	p.L274V	RP11-685N10.1_ENST00000541092.1_RNA|MRE11A_ENST00000393241.4_Missense_Mutation_p.L274V|MRE11A_ENST00000407439.3_Missense_Mutation_p.L277V|MRE11A_ENST00000323977.3_Missense_Mutation_p.L274V	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	274					base-excision repair (GO:0006284)|cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|double-strand break repair via nonhomologous end joining (GO:0006303)|innate immune response (GO:0045087)|intra-S DNA damage checkpoint (GO:0031573)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of DNA endoreduplication (GO:0032876)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair (GO:0006289)|positive regulation of kinase activity (GO:0033674)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of type I interferon production (GO:0032481)|reciprocal meiotic recombination (GO:0007131)|regulation of mitotic recombination (GO:0000019)|sister chromatid cohesion (GO:0007062)|synapsis (GO:0007129)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)	chromatin (GO:0000785)|cytosol (GO:0005829)|Mre11 complex (GO:0030870)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)	3'-5' exonuclease activity (GO:0008408)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|manganese ion binding (GO:0030145)|nuclease activity (GO:0004518)|protein C-terminus binding (GO:0008022)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CCTGGGGAAAGAGAAGTAACC	0.363								Homologous recombination	Ataxia-Telangiectasia-Like Disorder																																								0													90.0	96.0	94.0					11																	94204765		2201	4298	6499	SO:0001583	missense	4361	Familial Cancer Database	ATLD	BC063458	CCDS8298.1, CCDS8299.1	11q21	2014-09-17	2001-11-28		ENSG00000020922	ENSG00000020922			7230	protein-coding gene	gene with protein product	"""AT-like disease"""	600814	"""meiotic recombination (S. cerevisiae) 11 homolog A"""	MRE11		8530104	Standard	XM_005274007		Approved	ATLD	uc001peu.2	P49959	OTTHUMG00000167780	ENST00000323929.3:c.820C>G	11.37:g.94204765G>C	ENSP00000325863:p.Leu274Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O43475	Missense_Mutation	SNP	pfam_Mre11_DNA-bd,pfam_Metallo_PEstase_dom,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11	p.L274V	ENST00000323929.3	37	c.820	CCDS8299.1	11	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446734	0.84101	.	.	ENSG00000020922	ENST00000323929;ENST00000407439;ENST00000323977;ENST00000393241	D;D;D;D	0.83591	-1.74;-1.74;-1.74;-1.74	5.45	5.45	0.79879	.	0.000000	0.85682	D	0.000000	D	0.93798	0.8017	M	0.93678	3.445	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.91635	0.999;0.998;0.998	D	0.94841	0.8005	10	0.87932	D	0	-23.6925	19.6399	0.95753	0.0:0.0:1.0:0.0	.	277;274;274	B3KTC7;P49959-2;P49959	.;.;MRE11_HUMAN	V	274;277;274;274	ENSP00000325863:L274V;ENSP00000385614:L277V;ENSP00000326094:L274V;ENSP00000376933:L274V	ENSP00000325863:L274V	L	-	1	0	MRE11A	93844413	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.772000	0.85439	2.721000	0.93114	0.585000	0.79938	CTT	MRE11A	-	pfam_Mre11_DNA-bd,pirsf_DNA_repair_Mre11,tigrfam_DNA_repair_Mre11		0.363	MRE11A-001	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	MRE11A	HGNC	protein_coding	OTTHUMT00000396237.3	G	NM_005591		94204765	-1	no_errors	ENST00000323929	ensembl	human	known	70_37	missense	SNP	1.000	C
MRPL43	84545	genome.wustl.edu	37	10	102746715	102746715	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:102746715C>A	ENST00000318325.2	-	3	309	c.256G>T	c.(256-258)Gag>Tag	p.E86*	MRPL43_ENST00000370236.1_Nonsense_Mutation_p.E86*|MRPL43_ENST00000342071.1_Nonsense_Mutation_p.E86*|C10orf2_ENST00000311916.2_5'Flank|MRPL43_ENST00000318364.8_Nonsense_Mutation_p.E86*|C10orf2_ENST00000370228.1_5'Flank|MRPL43_ENST00000493646.1_5'UTR|MRPL43_ENST00000299179.5_Nonsense_Mutation_p.E86*|MRPL43_ENST00000370241.3_Nonsense_Mutation_p.E86*|MRPL43_ENST00000370242.4_Nonsense_Mutation_p.E86*|MRPL43_ENST00000477279.1_3'UTR|MRPL43_ENST00000370234.4_Nonsense_Mutation_p.E86*|RP11-108L7.4_ENST00000447344.1_RNA	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	86					translation (GO:0006412)	mitochondrial ribosome (GO:0005761)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		ATGCTCTCCTCGCGCACAGCC	0.637																																																	0													41.0	35.0	37.0					10																	102746715		2203	4300	6503	SO:0001587	stop_gained	84545			AB049656	CCDS7502.1, CCDS7503.1, CCDS7504.1, CCDS7505.1	10q24.31	2012-09-13			ENSG00000055950	ENSG00000055950		"""Mitochondrial ribosomal proteins / large subunits"""	14517	protein-coding gene	gene with protein product		611848					Standard	NM_176792		Approved	bMRP36a	uc001ksa.1	Q8N983	OTTHUMG00000018920	ENST00000318325.2:c.256G>T	10.37:g.102746715C>A	ENSP00000315364:p.Glu86*	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AL06|B1AL07|B1AL09|B1AL10|C9J5Q3|D3DR71|Q5JW06|Q7Z719|Q7Z7H6|Q86XN1|Q9BYC7	Nonsense_Mutation	SNP	pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH	p.E86*	ENST00000318325.2	37	c.256	CCDS7502.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	36|36	5.827736|5.827736	0.96996|0.96996	.|.	.|.	ENSG00000055950|ENSG00000055950	ENST00000318325;ENST00000370241;ENST00000370242;ENST00000299179;ENST00000342071;ENST00000370236;ENST00000318364;ENST00000370234|ENST00000523148	.|.	.|.	.|.	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.77363	.|0.4119	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.77736	.|-0.2476	.|4	0.09590|0.52906	T|T	0.72|0.07	-15.3256|-15.3256	18.3198|18.3198	0.90234|0.90234	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	X|L	86|42	.|.	ENSP00000299179:E86X|ENSP00000430369:R42L	E|R	-|-	1|2	0|0	MRPL43|MRPL43	102736705|102736705	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.892000|0.892000	0.51952|0.51952	7.756000|7.756000	0.85195|0.85195	2.667000|2.667000	0.90743|0.90743	0.563000|0.563000	0.77884|0.77884	GAG|CGA	MRPL43	-	pfam_Ribosome/NADH_DH,superfamily_Thioredoxin-like_fold,smart_Ribosome/NADH_DH		0.637	MRPL43-002	KNOWN	basic|CCDS	protein_coding	MRPL43	HGNC	protein_coding	OTTHUMT00000049902.1	C			102746715	-1	no_errors	ENST00000370242	ensembl	human	known	70_37	nonsense	SNP	1.000	A
MRPS14	63931	genome.wustl.edu	37	1	174987559	174987559	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:174987559G>A	ENST00000476371.1	-	2	215	c.199C>T	c.(199-201)Ctt>Ttt	p.L67F		NM_022100.2	NP_071383.1			mitochondrial ribosomal protein S14											large_intestine(2)|lung(5)|pancreas(1)|prostate(2)	10						CTAACCTGAAGAATTTTTGGC	0.373																																																	0													175.0	163.0	167.0					1																	174987559		2203	4300	6503	SO:0001583	missense	63931			AB051350	CCDS1316.1	1q25.1	2012-09-13			ENSG00000120333	ENSG00000120333		"""Mitochondrial ribosomal proteins / small subunits"""	14049	protein-coding gene	gene with protein product		611978					Standard	NR_037606		Approved	HSMRPS14	uc001gkk.3	O60783	OTTHUMG00000034878	ENST00000476371.1:c.199C>T	1.37:g.174987559G>A	ENSP00000420714:p.Leu67Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_S14	p.L67F	ENST00000476371.1	37	c.199	CCDS1316.1	1	.	.	.	.	.	.	.	.	.	.	G	11.36	1.615721	0.28801	.	.	ENSG00000120333	ENST00000476371	.	.	.	3.97	3.04	0.35103	.	0.061993	0.64402	D	0.000003	T	0.68016	0.2955	M	0.85542	2.76	0.80722	D	1	P	0.37122	0.583	B	0.40165	0.321	T	0.74494	-0.3647	9	0.56958	D	0.05	-9.6911	13.8609	0.63559	0.0:0.0:0.8456:0.1544	.	67	O60783	RT14_HUMAN	F	67	.	ENSP00000420714:L67F	L	-	1	0	MRPS14	173254182	1.000000	0.71417	0.791000	0.31998	0.099000	0.18886	4.622000	0.61240	1.227000	0.43598	-0.182000	0.12963	CTT	MRPS14	-	NULL		0.373	MRPS14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS14	HGNC	protein_coding	OTTHUMT00000084416.2	G	NM_022100		174987559	-1	no_errors	ENST00000476371	ensembl	human	known	70_37	missense	SNP	1.000	A
MRPS18C	51023	genome.wustl.edu	37	4	84380912	84380912	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:84380912C>G	ENST00000295491.4	+	4	367	c.254C>G	c.(253-255)tCt>tGt	p.S85C	MRPS18C_ENST00000507349.1_Intron|MRPS18C_ENST00000507019.1_Missense_Mutation_p.S57C	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	85					translation (GO:0006412)	mitochondrial small ribosomal subunit (GO:0005763)	structural constituent of ribosome (GO:0003735)			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				CAGTTTGTTTCTCCATTTACT	0.294																																																	0													130.0	121.0	124.0					4																	84380912		2203	4292	6495	SO:0001583	missense	51023				CCDS3604.1, CCDS75159.1	4q21.21-q21.23	2012-09-13			ENSG00000163319	ENSG00000163319		"""Mitochondrial ribosomal proteins / small subunits"""	16633	protein-coding gene	gene with protein product		611983				11279123, 10810093	Standard	XM_005263043		Approved	MRPS18-1, CGI-134, FLJ11146, FLJ22967	uc003hor.4	Q9Y3D5	OTTHUMG00000130430	ENST00000295491.4:c.254C>G	4.37:g.84380912C>G	ENSP00000295491:p.Ser85Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18	p.S85C	ENST00000295491.4	37	c.254	CCDS3604.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.1|21.1	4.091477|4.091477	0.76756|0.76756	.|.	.|.	ENSG00000163319|ENSG00000163319	ENST00000509970|ENST00000295491;ENST00000507019	.|.	.|.	.|.	5.22|5.22	5.22|5.22	0.72569|0.72569	.|Ribosomal protein S18, conserved site (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.85366|0.85366	0.5680|0.5680	M|M	0.90019|0.90019	3.08|3.08	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.74348	.|0.983	D|D	0.87759|0.87759	0.2597|0.2597	5|9	.|0.66056	.|D	.|0.02	-25.8069|-25.8069	18.9654|18.9654	0.92694|0.92694	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|85	.|Q9Y3D5	.|RT18C_HUMAN	L|C	55|85;57	.|.	.|ENSP00000295491:S85C	F|S	+|+	3|2	2|0	MRPS18C|MRPS18C	84599936|84599936	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.961000|0.961000	0.63080|0.63080	5.740000|5.740000	0.68629|0.68629	2.732000|2.732000	0.93576|0.93576	0.591000|0.591000	0.81541|0.81541	TTC|TCT	MRPS18C	-	pfam_Ribosomal_S18,superfamily_Ribosomal_S18,tigrfam_Ribosomal_S18		0.294	MRPS18C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRPS18C	HGNC	protein_coding	OTTHUMT00000252820.2	C			84380912	+1	no_errors	ENST00000295491	ensembl	human	known	70_37	missense	SNP	1.000	G
MRPS22	56945	genome.wustl.edu	37	3	139063526	139063526	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:139063526G>C	ENST00000495075.1	+	3	604				MRPS22_ENST00000465056.1_Intron|MRPS22_ENST00000478464.1_Missense_Mutation_p.E5D|MRPS22_ENST00000310776.4_Intron			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22							mitochondrial ribosome (GO:0005761)|mitochondrial small ribosomal subunit (GO:0005763)|mitochondrion (GO:0005739)	structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						ccagaaatgagactgagcaca	0.418																																																	0																																										SO:0001627	intron_variant	56945			AF226045	CCDS3107.1	3q23	2012-09-13			ENSG00000175110	ENSG00000175110		"""Mitochondrial ribosomal proteins / small subunits"""	14508	protein-coding gene	gene with protein product		605810				11175783	Standard	NM_020191		Approved	MRP-S22, GK002, C3orf5, GIBT	uc003etb.3	P82650	OTTHUMG00000159910	ENST00000495075.1:c.172+486G>C	3.37:g.139063526G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3I1	Missense_Mutation	SNP	pfam_Ribosomal_S22_mit	p.E5D	ENST00000495075.1	37	c.15	CCDS3107.1	3	.	.	.	.	.	.	.	.	.	.	G	7.059	0.565916	0.13560	.	.	ENSG00000175110	ENST00000478464	D	0.82711	-1.64	2.37	-2.59	0.06209	.	.	.	.	.	T	0.58878	0.2153	.	.	.	0.19575	N	0.999967	B	0.02656	0.0	B	0.04013	0.001	T	0.44251	-0.9340	8	0.12103	T	0.63	.	0.2214	0.00168	0.3222:0.2047:0.2666:0.2065	.	5	G5E9W7	.	D	5	ENSP00000419303:E5D	ENSP00000419303:E5D	E	+	3	2	MRPS22	140546216	0.005000	0.15991	0.003000	0.11579	0.448000	0.32197	0.311000	0.19380	-0.705000	0.05035	0.313000	0.20887	GAG	MRPS22	-	NULL		0.418	MRPS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MRPS22	HGNC	protein_coding	OTTHUMT00000358120.1	G	NM_020191		139063526	+1	no_errors	ENST00000478464	ensembl	human	putative	70_37	missense	SNP	0.005	C
MRTO4	51154	genome.wustl.edu	37	1	19584270	19584270	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:19584270C>T	ENST00000330263.4	+	6	638					NM_016183.3	NP_057267.2	Q9UKD2	MRT4_HUMAN	mRNA turnover 4 homolog (S. cerevisiae)						ribosome biogenesis (GO:0042254)	nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCCTGACTCATGGGCTGGT	0.607																																					GBM(192;2418 3032 7540 48714)												0																																										SO:0001627	intron_variant	51154			AK027569	CCDS191.1	1p36.13	2008-02-05	2006-12-21	2007-01-05	ENSG00000053372	ENSG00000053372			18477	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 33"", ""MRT4, mRNA turnover 4, homolog (S. cerevisiae)"""	C1orf33			Standard	NM_016183		Approved	dJ657E11.4, MRT4	uc001bbs.3	Q9UKD2	OTTHUMG00000002496	ENST00000330263.4:c.342-57C>T	1.37:g.19584270C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNB3|Q5TG55|Q96SS6|Q9BPV9	RNA	SNP	-	NULL	ENST00000330263.4	37	NULL	CCDS191.1	1																																																																																			MRTO4	-	-		0.607	MRTO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MRTO4	HGNC	protein_coding	OTTHUMT00000007075.2	C	NM_016183		19584270	+1	no_errors	ENST00000479559	ensembl	human	known	70_37	rna	SNP	0.000	T
MS4A14	84689	genome.wustl.edu	37	11	60182921	60182921	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:60182921C>G	ENST00000300187.6	+	5	757	c.480C>G	c.(478-480)ttC>ttG	p.F160L	MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000395005.2_Missense_Mutation_p.F143L|MS4A14_ENST00000531783.1_Missense_Mutation_p.F193L|MS4A14_ENST00000531787.1_Missense_Mutation_p.F48L	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	160						integral component of membrane (GO:0016021)				autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(9)|lung(31)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	62						TTCTGTTTTTCTTGCCTTCGG	0.328																																																	0													86.0	85.0	85.0					11																	60182921		2202	4299	6501	SO:0001583	missense	84689			AY584610	CCDS31569.1, CCDS41652.1, CCDS58136.1, CCDS73295.1	11q12.2	2008-04-10	2008-04-10	2008-04-10		ENSG00000166928			30706	protein-coding gene	gene with protein product			"""membrane-spanning 4-domains, subfamily A, member 16"""	MS4A16			Standard	NM_032597		Approved	NYD-SP21, FLJ32856, DKFZp434H092	uc031qbd.1	Q96JA4		ENST00000300187.6:c.480C>G	11.37:g.60182921C>G	ENSP00000300187:p.Phe160Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PJE3|Q2TVT5|Q3B7W3|Q86XH8|Q9NTC2	Missense_Mutation	SNP	pfam_CD20-like	p.F160L	ENST00000300187.6	37	c.480	CCDS31569.1	11	.	.	.	.	.	.	.	.	.	.	C	16.96	3.267092	0.59540	.	.	ENSG00000166928	ENST00000531787;ENST00000300187;ENST00000395005;ENST00000531783	T;T;T;T	0.37411	1.2;2.64;1.25;2.99	3.73	3.73	0.42828	.	4.348810	0.00718	N	0.000860	T	0.63745	0.2537	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.996;0.998	T	0.50800	-0.8785	10	0.87932	D	0	-12.0904	11.3443	0.49552	0.0:1.0:0.0:0.0	.	143;160	Q96JA4-2;Q96JA4	.;M4A14_HUMAN	L	48;160;143;193	ENSP00000437222:F48L;ENSP00000300187:F160L;ENSP00000378453:F143L;ENSP00000433761:F193L	ENSP00000300187:F160L	F	+	3	2	MS4A14	59939497	1.000000	0.71417	1.000000	0.80357	0.802000	0.45316	1.507000	0.35758	2.371000	0.80710	0.650000	0.86243	TTC	MS4A14	-	pfam_CD20-like		0.328	MS4A14-002	KNOWN	basic|CCDS	protein_coding	MS4A14	HGNC	protein_coding	OTTHUMT00000395383.2	C			60182921	+1	no_errors	ENST00000300187	ensembl	human	known	70_37	missense	SNP	1.000	G
MSN	4478	genome.wustl.edu	37	X	64958439	64958439	+	Missense_Mutation	SNP	G	G	A	rs371555667		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:64958439G>A	ENST00000360270.5	+	11	1476	c.1304G>A	c.(1303-1305)cGa>cAa	p.R435Q		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	435					cellular component movement (GO:0006928)|establishment of endothelial barrier (GO:0061028)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|regulation of lymphocyte migration (GO:2000401)	apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|microvillus (GO:0005902)|plasma membrane (GO:0005886)|uropod (GO:0001931)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|double-stranded RNA binding (GO:0003725)|protein kinase binding (GO:0019901)|receptor binding (GO:0005102)|structural constituent of cytoskeleton (GO:0005200)	p.R435Q(1)	MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GAGATGGCCCGACAGAAGAAG	0.532			T	ALK	ALCL																																			Dom	yes		X	Xq11.2-q12	4478	moesin		L	1	Substitution - Missense(1)	large_intestine(1)						G	GLN/ARG	0,3835		0,0,1632,571	65.0	57.0	59.0		1304	4.7	1.0	X		59	1,6726		0,1,2427,1871	no	missense	MSN	NM_002444.2	43	0,1,4059,2442	AA,AG,GG,G		0.0149,0.0,0.0095	benign	435/578	64958439	1,10561	2203	4299	6502	SO:0001583	missense	4478			M69066	CCDS14382.1	Xq11.1	2010-10-20			ENSG00000147065	ENSG00000147065			7373	protein-coding gene	gene with protein product		309845				1924289, 7628534	Standard	XM_005262269		Approved		uc004dwf.3	P26038	OTTHUMG00000021723	ENST00000360270.5:c.1304G>A	X.37:g.64958439G>A	ENSP00000353408:p.Arg435Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,prints_Ez/rad/moesin,prints_Band_41_fam,pfscan_FERM_domain	p.R435Q	ENST00000360270.5	37	c.1304	CCDS14382.1	X	.	.	.	.	.	.	.	.	.	.	g	18.17	3.565490	0.65651	0.0	1.49E-4	ENSG00000147065	ENST00000360270	D	0.83075	-1.68	4.67	4.67	0.58626	Ezrin/radixin/moesin, C-terminal (1);	0.270322	0.40302	N	0.001137	T	0.82075	0.4958	M	0.65498	2.005	0.50039	D	0.999843	B	0.22851	0.076	B	0.26094	0.066	T	0.79995	-0.1568	10	0.41790	T	0.15	.	15.4828	0.75542	0.0:0.0:1.0:0.0	.	435	P26038	MOES_HUMAN	Q	435	ENSP00000353408:R435Q	ENSP00000353408:R435Q	R	+	2	0	MSN	64875164	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.826000	0.69293	2.306000	0.77630	0.591000	0.81541	CGA	MSN	-	pirsf_ERM,pfam_ERM_C		0.532	MSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSN	HGNC	protein_coding	OTTHUMT00000056981.1	G	NM_002444		64958439	+1	no_errors	ENST00000360270	ensembl	human	known	70_37	missense	SNP	1.000	A
MSRA	4482	genome.wustl.edu	37	8	10102637	10102637	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:10102637G>A	ENST00000317173.4	+	3	484	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	MSRA_ENST00000528246.1_Missense_Mutation_p.E13K|MSRA_ENST00000518255.1_Missense_Mutation_p.E79K|MSRA_ENST00000521209.2_Missense_Mutation_p.E13K|MSRA_ENST00000382490.5_Missense_Mutation_p.E36K|MSRA_ENST00000441698.2_Intron	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	79					cellular protein modification process (GO:0006464)|methionine metabolic process (GO:0006555)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	peptide-methionine (S)-S-oxide reductase activity (GO:0008113)			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CTGGGGAGCTGAAAGGAAATT	0.373																																					NSCLC(88;1378 1469 30580 49103 52286)												0													95.0	99.0	98.0					8																	10102637		2203	4300	6503	SO:0001583	missense	4482			BC054033	CCDS5975.1, CCDS47798.1, CCDS47799.1, CCDS56522.1	8p23.1	2009-07-10			ENSG00000175806	ENSG00000175806	1.8.4.11		7377	protein-coding gene	gene with protein product		601250				10452521	Standard	NM_012331		Approved		uc003wsx.3	Q9UJ68	OTTHUMG00000090517	ENST00000317173.4:c.235G>A	8.37:g.10102637G>A	ENSP00000313921:p.Glu79Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PAS8|Q52TC4|Q549N4|Q66MI7	Missense_Mutation	SNP	pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA	p.E79K	ENST00000317173.4	37	c.235	CCDS5975.1	8	.	.	.	.	.	.	.	.	.	.	G	35	5.463720	0.96257	.	.	ENSG00000175806	ENST00000317173;ENST00000518255;ENST00000521209;ENST00000522907;ENST00000528246;ENST00000382490	.	.	.	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.91462	0.7305	H	0.99299	4.505	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.94764	0.7939	8	.	.	.	-21.2925	18.3384	0.90297	0.0:0.0:1.0:0.0	.	36;36;79	B7Z694;Q9UJ68-3;Q9UJ68	.;.;MSRA_HUMAN	K	79;79;13;13;13;36	.	.	E	+	1	0	MSRA	10140047	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.331000	0.96430	2.675000	0.91044	0.655000	0.94253	GAA	MSRA	-	pfam_Met_Sox_Rdtase_MsrA,superfamily_Met_Sox_Rdtase_MsrA,tigrfam_Met_Sox_Rdtase_MsrA		0.373	MSRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSRA	HGNC	protein_coding	OTTHUMT00000207005.1	G	NM_012331		10102637	+1	no_errors	ENST00000317173	ensembl	human	known	70_37	missense	SNP	1.000	A
APEH	327	genome.wustl.edu	37	3	49723520	49723520	+	IGR	SNP	A	A	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49723520A>G	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Silent_p.R374R|AC099668.5_ENST00000563780.1_RNA	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGTCTGTACAACGCCGGATCT	0.692																																																	0													12.0	14.0	13.0					3																	49723520		2192	4284	6476	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723520A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQ33|Q9P0Y2	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.R374	ENST00000296456.5	37	c.1122	CCDS2801.1	3																																																																																			MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.692	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	A			49723520	-1	no_errors	ENST00000449682	ensembl	human	known	70_37	silent	SNP	1.000	G
MST1L	11223	genome.wustl.edu	37	1	17087362	17087362	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:17087362G>C	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CATTGTAGTGGAACGCCCTGG	0.602																																																	0																																												11223			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17087362G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.F74L	ENST00000455405.2	37	c.222		1	.	.	.	.	.	.	.	.	.	.	.	13.71	2.318339	0.40996	.	.	ENSG00000186715	ENST00000389184;ENST00000334998;ENST00000442552;ENST00000545160	.	.	.	.	.	.	.	0.000000	0.44483	D	0.000459	T	0.39410	0.1077	.	.	.	.	.	.	D	0.76494	0.999	D	0.85130	0.997	T	0.52041	-0.8628	6	0.06757	T	0.87	.	2.6652	0.05046	0.5:0.0:0.5:0.0	.	74	Q2TV78-2	.	L	44;74;74;6	.	ENSP00000439273:F74L	F	-	3	2	MST1P9	16959949	1.000000	0.71417	0.000000	0.03702	0.000000	0.00434	0.669000	0.25142	-0.000000	0.14550	0.000000	0.15137	TTC	MST1L	-	pfam_PAN-1_domain,smart_Pan_app,smart_Kringle,pfscan_Pan_app		0.602	MST1L-002	KNOWN	basic	processed_transcript	MST1L	HGNC	pseudogene	OTTHUMT00000400328.1	G	NM_001271733		17087362	-1	no_errors	ENST00000334998	ensembl	human	known	70_37	missense	SNP	1.000	C
MSX1	4487	genome.wustl.edu	37	4	4864729	4864729	+	Silent	SNP	C	C	T	rs570138459		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:4864729C>T	ENST00000382723.4	+	2	1005	c.771C>T	c.(769-771)ctC>ctT	p.L257L	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	257					activation of meiosis (GO:0090427)|anterior/posterior pattern specification (GO:0009952)|BMP signaling pathway involved in heart development (GO:0061312)|bone morphogenesis (GO:0060349)|cartilage morphogenesis (GO:0060536)|cell morphogenesis (GO:0000902)|cellular response to nicotine (GO:0071316)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic nail plate morphogenesis (GO:0035880)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|face morphogenesis (GO:0060325)|in utero embryonic development (GO:0001701)|mammary gland epithelium development (GO:0061180)|mesenchymal cell proliferation (GO:0010463)|midbrain development (GO:0030901)|middle ear morphogenesis (GO:0042474)|muscle organ development (GO:0007517)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of striated muscle cell differentiation (GO:0051154)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902255)|positive regulation of mesenchymal cell apoptotic process (GO:2001055)|protein localization to nucleus (GO:0034504)|protein stabilization (GO:0050821)|regulation of odontogenesis (GO:0042481)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCTTCCCTCTCGGCGGCCCCG	0.701																																																	0													16.0	16.0	16.0					4																	4864729		2167	4249	6416	SO:0001819	synonymous_variant	4487			M97676	CCDS3378.2	4p16.2	2011-06-20	2006-11-21		ENSG00000163132	ENSG00000163132		"""Homeoboxes / ANTP class : NKL subclass"""	7391	protein-coding gene	gene with protein product		142983	"""msh (Drosophila) homeo box homolog 1 (formerly homeo box 7)"", ""msh homeobox homolog 1 (Drosophila)"""	HOX7		1685479, 1973146	Standard	NM_002448		Approved	HYD1, OFC5	uc003gif.3	P28360	OTTHUMG00000090335	ENST00000382723.4:c.771C>T	4.37:g.4864729C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0SZU5|A8K3M1|Q96NY4	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.L257	ENST00000382723.4	37	c.771	CCDS3378.2	4																																																																																			MSX1	-	NULL		0.701	MSX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSX1	HGNC	protein_coding	OTTHUMT00000206700.3	C			4864729	+1	no_errors	ENST00000382723	ensembl	human	known	70_37	silent	SNP	0.092	T
MTFR1	9650	genome.wustl.edu	37	8	66617086	66617086	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:66617086C>T	ENST00000262146.4	+	5	565	c.439C>T	c.(439-441)Ctc>Ttc	p.L147F	MTFR1_ENST00000458689.2_Missense_Mutation_p.L114F|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	147					aerobic respiration (GO:0009060)|mitochondrial fission (GO:0000266)|mitochondrion organization (GO:0007005)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATTTGCGCTCTCGAAAATGA	0.488																																																	0													39.0	40.0	40.0					8																	66617086		2203	4300	6503	SO:0001583	missense	9650				CCDS6182.1, CCDS55240.1	8q13.1	2012-11-30							29510	protein-coding gene	gene with protein product	"""likely ortholog of chicken chondrocyte protein with a poly proline region"""					7584026, 7584028, 15389597	Standard	NM_014637		Approved	CHPPR, KIAA0009, FAM54A2	uc003xvn.2	Q15390		ENST00000262146.4:c.439C>T	8.37:g.66617086C>T	ENSP00000262146:p.Leu147Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EP84|Q6IB94|Q7Z669|Q86XH5|Q8IVD7	Missense_Mutation	SNP	pfam_Mtfr1	p.L147F	ENST00000262146.4	37	c.439	CCDS6182.1	8	.	.	.	.	.	.	.	.	.	.	C	24.5	4.539933	0.85917	.	.	ENSG00000066855	ENST00000518609;ENST00000262146;ENST00000458689	T;T	0.66815	-0.23;-0.23	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	D	0.84683	0.5526	M	0.91920	3.255	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.87724	0.2575	10	0.87932	D	0	6.1019	13.4628	0.61237	0.0:0.9249:0.0:0.0751	.	147;131;114;147	B4E3G8;E5RJS5;E7EP84;Q15390	.;.;.;MTFR1_HUMAN	F	131;147;114	ENSP00000262146:L147F;ENSP00000391502:L114F	ENSP00000262146:L147F	L	+	1	0	MTFR1	66779640	0.999000	0.42202	0.989000	0.46669	0.914000	0.54420	4.235000	0.58666	2.517000	0.84864	0.563000	0.77884	CTC	MTFR1	-	pfam_Mtfr1		0.488	MTFR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	MTFR1	HGNC	protein_coding	OTTHUMT00000378894.1	C	NM_014637		66617086	+1	no_errors	ENST00000262146	ensembl	human	known	70_37	missense	SNP	0.995	T
MTHFD2	10797	genome.wustl.edu	37	2	74437150	74437150	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:74437150C>T	ENST00000394053.2	+	5	724	c.644C>T	c.(643-645)aCa>aTa	p.T215I	MTHFD2_ENST00000409601.1_Missense_Mutation_p.T174I|MTHFD2_ENST00000394050.3_Missense_Mutation_p.T51I|MTHFD2_ENST00000409804.1_Intron|MTHFD2_ENST00000264090.4_Missense_Mutation_p.T113I	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	215					folic acid-containing compound biosynthetic process (GO:0009396)|one-carbon metabolic process (GO:0006730)|tetrahydrofolate metabolic process (GO:0046653)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	magnesium ion binding (GO:0000287)|methenyltetrahydrofolate cyclohydrolase activity (GO:0004477)|methylenetetrahydrofolate dehydrogenase (NAD+) activity (GO:0004487)|methylenetetrahydrofolate dehydrogenase (NADP+) activity (GO:0004488)|phosphate ion binding (GO:0042301)			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					Tetrahydrofolic acid(DB00116)	TTACTGCACACAGATGGGGCG	0.448																																																	0													74.0	77.0	76.0					2																	74437150		1902	4125	6027	SO:0001583	missense	10797			X16396	CCDS1935.2	2p13.1	2008-05-02			ENSG00000065911	ENSG00000065911			7434	protein-coding gene	gene with protein product		604887				2587219, 8218174	Standard	NR_027405		Approved		uc002skk.3	P13995	OTTHUMG00000129814	ENST00000394053.2:c.644C>T	2.37:g.74437150C>T	ENSP00000377617:p.Thr215Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53G90|Q53GV5|Q53S36|Q7Z650	Missense_Mutation	SNP	pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,prints_THF_DH/CycHdrlase	p.T215I	ENST00000394053.2	37	c.644	CCDS1935.2	2	.	.	.	.	.	.	.	.	.	.	C	33	5.279551	0.95489	.	.	ENSG00000065911	ENST00000394053;ENST00000264090;ENST00000394050;ENST00000409601	T;T;T;T	0.58060	0.38;0.38;0.38;0.36	5.49	5.49	0.81192	Tetrahydrofolate dehydrogenase/cyclohydrolase, NAD(P)-binding domain (1);NAD(P)-binding domain (1);	0.093742	0.64402	D	0.000001	T	0.64472	0.2601	L	0.59436	1.845	0.80722	D	1	P;P	0.49090	0.919;0.919	P;P	0.55749	0.783;0.783	T	0.61686	-0.7012	10	0.44086	T	0.13	.	16.9648	0.86282	0.0:1.0:0.0:0.0	.	174;215	B8ZZU9;P13995	.;MTDC_HUMAN	I	215;113;51;174	ENSP00000377617:T215I;ENSP00000264090:T113I;ENSP00000377614:T51I;ENSP00000386542:T174I	ENSP00000264090:T113I	T	+	2	0	MTHFD2	74290658	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.207000	0.77899	2.873000	0.98535	0.644000	0.83932	ACA	MTHFD2	-	pfam_THF_DH/CycHdrlase_NAD-bd_dom		0.448	MTHFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTHFD2	HGNC	protein_coding	OTTHUMT00000252045.2	C			74437150	+1	no_errors	ENST00000394053	ensembl	human	known	70_37	missense	SNP	1.000	T
MTOR	2475	genome.wustl.edu	37	1	11174420	11174420	+	Missense_Mutation	SNP	C	C	T	rs587777900		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:11174420C>T	ENST00000361445.4	-	53	7331	c.7255G>A	c.(7255-7257)Gaa>Aaa	p.E2419K	MTOR_ENST00000376838.1_Missense_Mutation_p.E624K	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2419	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				cell growth (GO:0016049)|cellular response to hypoxia (GO:0071456)|cellular response to nutrient levels (GO:0031669)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell development (GO:0007281)|growth (GO:0040007)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of autophagy (GO:0010507)|negative regulation of cell size (GO:0045792)|negative regulation of macroautophagy (GO:0016242)|negative regulation of NFAT protein import into nucleus (GO:0051534)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|phosphorylation (GO:0016310)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of gene expression (GO:0010628)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of carbohydrate utilization (GO:0043610)|regulation of fatty acid beta-oxidation (GO:0031998)|regulation of glycogen biosynthetic process (GO:0005979)|regulation of protein kinase activity (GO:0045859)|regulation of Rac GTPase activity (GO:0032314)|regulation of response to food (GO:0032095)|response to amino acid (GO:0043200)|response to nutrient (GO:0007584)|response to stress (GO:0006950)|ruffle organization (GO:0031529)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|phosphatidylinositol 3-kinase complex (GO:0005942)|PML body (GO:0016605)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	ATP binding (GO:0005524)|drug binding (GO:0008144)|kinase activity (GO:0016301)|phosphoprotein binding (GO:0051219)|protein serine/threonine kinase activity (GO:0004674)|ribosome binding (GO:0043022)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149					Everolimus(DB01590)|Pimecrolimus(DB00337)|Sirolimus(DB00877)|Temsirolimus(DB06287)	ACAAAGGCTTCCAGCACGGCC	0.532																																																	0													156.0	129.0	138.0					1																	11174420		2203	4300	6503	SO:0001583	missense	2475			L34075	CCDS127.1	1p36	2014-09-17	2009-05-29	2009-05-29	ENSG00000198793	ENSG00000198793			3942	protein-coding gene	gene with protein product	"""FK506 binding protein 12-rapamycin associated protein 2"", ""rapamycin target protein"", ""FKBP12-rapamycin complex-associated protein 1"", ""FKBP-rapamycin associated protein"", ""rapamycin associated protein FRAP2"", ""dJ576K7.1 (FK506 binding protein 12-rapamycin associated protein 1)"", ""rapamycin and FKBP12 target 1"", ""mammalian target of rapamycin"""	601231	"""FK506 binding protein 12-rapamycin associated protein 1"""	FRAP, FRAP2, FRAP1		8008069, 8660990	Standard	NM_004958		Approved	RAFT1, RAPT1, FLJ44809	uc001asd.3	P42345	OTTHUMG00000002001	ENST00000361445.4:c.7255G>A	1.37:g.11174420C>T	ENSP00000354558:p.Glu2419Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4LE76|Q5TER1|Q6LE87|Q96QG3|Q9Y4I3	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_DUF3385_TOR,pfam_Rapamycin-bd_dom,pfam_FATC,superfamily_ARM-type_fold,superfamily_Kinase-like_dom,superfamily_Rapamycin-bd_dom,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.E2419K	ENST00000361445.4	37	c.7255	CCDS127.1	1	.	.	.	.	.	.	.	.	.	.	C	36	5.796473	0.96952	.	.	ENSG00000198793	ENST00000361445;ENST00000376838;ENST00000455339	D;D;D	0.83163	-1.69;-1.69;-1.69	5.89	5.89	0.94794	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.94248	0.8153	H	0.95365	3.66	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95244	0.8354	10	0.87932	D	0	-22.4298	19.2499	0.93919	0.0:1.0:0.0:0.0	.	2419	P42345	MTOR_HUMAN	K	2419;624;75	ENSP00000354558:E2419K;ENSP00000366034:E624K;ENSP00000398745:E75K	ENSP00000354558:E2419K	E	-	1	0	MTOR	11097007	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.456000	0.80751	2.793000	0.96121	0.655000	0.94253	GAA	MTOR	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom		0.532	MTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTOR	HGNC	protein_coding	OTTHUMT00000005558.1	C	NM_004958		11174420	-1	no_errors	ENST00000361445	ensembl	human	known	70_37	missense	SNP	1.000	T
MUC1	4582	genome.wustl.edu	37	1	155161913	155161913	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155161913G>C	ENST00000368395.1	-	2	291	c.220C>G	c.(220-222)Cag>Gag	p.Q74E	MUC1_ENST00000368389.2_Intron|RP11-201K10.3_ENST00000473363.2_5'Flank|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000368392.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	856					cellular protein metabolic process (GO:0044267)|cellular response to retinoic acid (GO:0071300)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|epithelial cell differentiation (GO:0030855)|female pregnancy (GO:0007565)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902166)|negative regulation of transcription by competitive promoter binding (GO:0010944)|O-glycan processing (GO:0016266)|positive regulation of histone H4 acetylation (GO:0090240)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|post-translational protein modification (GO:0043687)|regulation of transcription from RNA polymerase II promoter in response to stress (GO:0043618)|response to hypoxia (GO:0001666)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|nuclear chromatin (GO:0000790)|vesicle (GO:0031982)	p53 binding (GO:0002039)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|transcription cofactor activity (GO:0003712)			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCTGTCCCTGAGTGGTGGAG	0.612			T	IGH@	B-NHL																																			Dom	yes		1	1q21	4582	"""mucin 1, transmembrane"""		L	0																																										SO:0001583	missense	4582			J05581	CCDS1098.1, CCDS30882.1, CCDS30883.1, CCDS41408.1, CCDS41409.1, CCDS55640.1, CCDS55641.1, CCDS55642.1, CCDS55640.2, CCDS72933.1, CCDS72934.1, CCDS72935.1, CCDS72936.1	1q22	2014-01-31	2006-03-14		ENSG00000185499	ENSG00000185499		"""CD molecules"", ""Mucins"""	7508	protein-coding gene	gene with protein product		158340	"""mucin 1, transmembrane"", ""medullary cystic kidney disease 1 (autosomal dominant)"""	PUM, MCKD1		1697589, 23396133	Standard	NM_002456		Approved	CD227, PEM, ADMCKD, ADMCKD1, MCKD, MCD	uc031ppv.1	P15941	OTTHUMG00000035681	ENST00000368395.1:c.220C>G	1.37:g.155161913G>C	ENSP00000357380:p.Gln74Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A5YRV1|A6ZID9|A6ZIE0|B1AVQ8|B1AVR0|B6ECA1|E7ESE5|E7EUG9|P13931|P15942|P17626|Q0VAP5|Q0VAP6|Q14128|Q14876|Q16437|Q16442|Q16615|Q6S4Y3|Q7Z547|Q7Z548|Q7Z550|Q7Z552|Q9BXA4|Q9UE75|Q9UE76|Q9UQL1|Q9Y4J2	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_SEA	p.Q74E	ENST00000368395.1	37	c.220	CCDS55640.1	1	.	.	.	.	.	.	.	.	.	.	G	7.971	0.749133	0.15710	.	.	ENSG00000185499	ENST00000368395;ENST00000425082	T	0.16897	2.31	2.59	-0.585	0.11698	.	2.912210	0.01624	N	0.023179	T	0.02688	0.0081	N	0.14661	0.345	0.09310	N	1	B	0.25169	0.119	B	0.24848	0.056	T	0.35724	-0.9777	10	0.40728	T	0.16	.	1.2698	0.02019	0.1398:0.2202:0.4149:0.2251	.	74	P15941	MUC1_HUMAN	E	74	ENSP00000357380:Q74E	ENSP00000357380:Q74E	Q	-	1	0	MUC1	153428537	0.007000	0.16637	0.000000	0.03702	0.095000	0.18619	1.719000	0.38011	-0.114000	0.11936	0.491000	0.48974	CAG	MUC1	-	NULL		0.612	MUC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC1	HGNC	protein_coding	OTTHUMT00000086735.1	G	NM_002456		155161913	-1	no_errors	ENST00000425082	ensembl	human	known	70_37	missense	SNP	0.000	C
MUC12	10071	genome.wustl.edu	37	7	100634191	100634191	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:100634191C>T	ENST00000379442.3	+	5	776	c.776C>T	c.(775-777)tCa>tTa	p.S259L	MUC12_ENST00000536621.1_Missense_Mutation_p.S116L			Q9UKN1	MUC12_HUMAN	mucin 12, cell surface associated	259	28 X 19 AA approximate tandem repeats of E-E-S-X-X-X-H-X-X-P-X-X-T-X-T-X-X-X-P.|Ser-rich.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|regulation of cell growth (GO:0001558)	Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)				breast(6)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|prostate(1)|stomach(13)	25						CCCATCACTTCAGCCTCAATG	0.512																																																	0													147.0	133.0	137.0					7																	100634191		692	1591	2283	SO:0001583	missense	10071			AF147790, AF147791	CCDS55139.1	7q22	2007-01-17	2006-03-14		ENSG00000205277	ENSG00000205277		"""Mucins"""	7510	protein-coding gene	gene with protein product		604609	"""mucin 11"""	MUC11		10463611	Standard	NM_001164462		Approved		uc003uxo.3	Q9UKN1	OTTHUMG00000157042	ENST00000379442.3:c.776C>T	7.37:g.100634191C>T	ENSP00000368755:p.Ser259Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND38|F5GWV9|Q9UKN0	Missense_Mutation	SNP	pfam_SEA	p.S259L	ENST00000379442.3	37	c.776		7	.	.	.	.	.	.	.	.	.	.	-	3.314	-0.140097	0.06669	.	.	ENSG00000205277	ENST00000379442;ENST00000536621	T;T	0.12569	2.67;2.67	0.499	0.499	0.16914	.	.	.	.	.	T	0.06462	0.0166	N	0.08118	0	0.09310	N	1	.	.	.	.	.	.	T	0.42361	-0.9456	7	0.27082	T	0.32	.	6.8026	0.23760	0.0:0.9998:0.0:2.0E-4	.	.	.	.	L	259;116	ENSP00000368755:S259L;ENSP00000441929:S116L	ENSP00000368755:S259L	S	+	2	0	MUC12	100420911	0.002000	0.14202	0.009000	0.14445	0.008000	0.06430	0.044000	0.13992	0.519000	0.28406	0.194000	0.17425	TCA	MUC12	-	NULL		0.512	MUC12-001	NOVEL	basic|appris_candidate_longest	protein_coding	MUC12	HGNC	protein_coding	OTTHUMT00000347234.1	C	XM_379904		100634191	+1	no_errors	ENST00000379442	ensembl	human	known	70_37	missense	SNP	0.050	T
MUC13	56667	genome.wustl.edu	37	3	124642461	124642461	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:124642461C>G	ENST00000311075.3	-	3	585	c.547G>C	c.(547-549)Gat>Cat	p.D183H		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	184	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						AACGAATTATCTGCACAGGGA	0.373																																																	0													136.0	115.0	122.0					3																	124642461		2203	4300	6503	SO:0001583	missense	56667			AF286113		3q21.2	2007-01-17	2006-03-14		ENSG00000173702	ENSG00000173702		"""Mucins"""	7511	protein-coding gene	gene with protein product		612181	"""down-regulated in colon cancer 1"", ""mucin 13, epithelial transmembrane"""	DRCC1		11278439	Standard	NM_033049		Approved		uc003ehq.2	Q9H3R2	OTTHUMG00000159484	ENST00000311075.3:c.547G>C	3.37:g.124642461C>G	ENSP00000312235:p.Asp183His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWD9|Q9NXT5	Missense_Mutation	SNP	pfam_SEA,superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom	p.D183H	ENST00000311075.3	37	c.547		3	.	.	.	.	.	.	.	.	.	.	C	13.23	2.174447	0.38413	.	.	ENSG00000173702	ENST00000311075;ENST00000478191	T;D	0.95518	2.5;-3.73	4.7	2.9	0.33743	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	1.107710	0.06898	N	0.805546	D	0.93301	0.7865	N	0.19112	0.55	0.09310	N	1	D	0.76494	0.999	P	0.58820	0.846	D	0.85457	0.1164	10	0.15499	T	0.54	-15.5368	6.1117	0.20104	0.184:0.7216:0.0:0.0944	.	183	Q9H3R2	MUC13_HUMAN	H	183;53	ENSP00000312235:D183H;ENSP00000418660:D53H	ENSP00000312235:D183H	D	-	1	0	MUC13	126125151	0.000000	0.05858	0.001000	0.08648	0.004000	0.04260	-0.815000	0.04481	0.887000	0.36136	0.591000	0.81541	GAT	MUC13	-	superfamily_Growth_fac_rcpt,smart_EG-like_dom,pfscan_EG-like_dom		0.373	MUC13-001	KNOWN	basic|appris_principal	protein_coding	MUC13	HGNC	protein_coding	OTTHUMT00000355714.1	C	NM_033049		124642461	-1	no_errors	ENST00000311075	ensembl	human	known	70_37	missense	SNP	0.001	G
MUC17	140453	genome.wustl.edu	37	7	100686385	100686385	+	Silent	SNP	G	G	C	rs140034397		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:100686385G>C	ENST00000306151.4	+	3	11752	c.11688G>C	c.(11686-11688)tcG>tcC	p.S3896S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3896					cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GCATAGCTTCGACACCTCCTC	0.468																																																	0													153.0	146.0	148.0					7																	100686385		2203	4300	6503	SO:0001819	synonymous_variant	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.11688G>C	7.37:g.100686385G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Silent	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S3896	ENST00000306151.4	37	c.11688	CCDS34711.1	7																																																																																			MUC17	-	NULL		0.468	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	G	NM_001040105		100686385	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	silent	SNP	0.124	C
MUC4	4585	genome.wustl.edu	37	3	195474048	195474048	+	Nonstop_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:195474048C>G	ENST00000346145.4	-	24	3569	c.3530G>C	c.(3529-3531)tGa>tCa	p.*1177S	MUC4_ENST00000349607.4_Nonstop_Mutation_p.*1126S|MUC4_ENST00000475231.1_Nonstop_Mutation_p.*5361S|MUC4_ENST00000463781.3_Nonstop_Mutation_p.*5413S	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0	NIDO. {ECO:0000255|PROSITE- ProRule:PRU00570}.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGCCCCTTCAAGGCAAGGC	0.577																																																	0													71.0	77.0	75.0					3																	195474048		2203	4300	6503	SO:0001578	stop_lost	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3530G>C	3.37:g.195474048C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Nonstop_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.*5413S	ENST00000346145.4	37	c.16238	CCDS3310.1	3	.	.	.	.	.	.	.	.	.	.	c	12.99	2.104311	0.37145	.	.	ENSG00000145113	ENST00000349607;ENST00000346145;ENST00000463781;ENST00000475231;ENST00000392409	.	.	.	4.7	-3.16	0.05217	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.3086	0.21153	0.0:0.5316:0.177:0.2914	.	.	.	.	S	1126;1177;5413;5361;1913	.	.	X	-	2	2	MUC4	196959719	0.000000	0.05858	0.000000	0.03702	0.033000	0.12548	-1.645000	0.02000	-0.365000	0.08076	-0.390000	0.06520	TGA	MUC4	-	NULL		0.577	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	C	NM_018406		195474048	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	nonstop	SNP	0.000	G
MUC4	4585	genome.wustl.edu	37	3	195474200	195474200	+	Silent	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:195474200C>A	ENST00000346145.4	-	24	3417	c.3378G>T	c.(3376-3378)ctG>ctT	p.L1126L	MUC4_ENST00000349607.4_Silent_p.L1075L|MUC4_ENST00000475231.1_Silent_p.L5310L|MUC4_ENST00000463781.3_Silent_p.L5362L	NM_004532.5	NP_004523.3	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2119					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTTTCATGCTCAGGTGCTCAC	0.627																																																	0													73.0	61.0	65.0					3																	195474200		2203	4300	6503	SO:0001819	synonymous_variant	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000346145.4:c.3378G>T	3.37:g.195474200C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Silent	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.L5362	ENST00000346145.4	37	c.16086	CCDS3310.1	3																																																																																			MUC4	-	NULL		0.627	MUC4-015	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000341862.1	C	NM_018406		195474200	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	silent	SNP	0.965	A
MUC4	4585	genome.wustl.edu	37	3	195515356	195515356	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:195515356G>A	ENST00000463781.3	-	2	3554	c.3095C>T	c.(3094-3096)tCa>tTa	p.S1032L	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S1032L|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	464	Repeat.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTGGATTCTGAGGAAGTGTC	0.567																																																	0													48.0	24.0	31.0					3																	195515356		692	1590	2282	SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3095C>T	3.37:g.195515356G>A	ENSP00000417498:p.Ser1032Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom	p.S1032L	ENST00000463781.3	37	c.3095	CCDS54700.1	3	.	.	.	.	.	.	.	.	.	.	-	2.580	-0.297729	0.05532	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.32023	1.47;1.47	1.0	-2.01	0.07410	.	.	.	.	.	T	0.12603	0.0306	N	0.19112	0.55	0.09310	N	1	P	0.35139	0.486	B	0.22601	0.04	T	0.11348	-1.0591	8	.	.	.	.	4.2835	0.10844	0.0:0.1781:0.3681:0.4538	.	1032	E7ESK3	.	L	1032	ENSP00000417498:S1032L;ENSP00000420243:S1032L	.	S	-	2	0	MUC4	196999751	0.003000	0.15002	0.000000	0.03702	0.037000	0.13140	0.746000	0.26275	-2.069000	0.00882	0.064000	0.15345	TCA	MUC4	-	NULL		0.567	MUC4-001	KNOWN	basic|CCDS	protein_coding	MUC4	HGNC	protein_coding	OTTHUMT00000324081.6	G	NM_018406		195515356	-1	no_errors	ENST00000463781	ensembl	human	known	70_37	missense	SNP	0.000	A
MUC5B	727897	genome.wustl.edu	37	11	1269671	1269671	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:1269671C>A	ENST00000529681.1	+	31	11619	c.11561C>A	c.(11560-11562)tCt>tAt	p.S3854Y	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S3857Y	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3854	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCACCCCCTCTTCCACCCCA	0.647																																																	0													109.0	125.0	120.0					11																	1269671		2060	4166	6226	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.11561C>A	11.37:g.1269671C>A	ENSP00000436812:p.Ser3854Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S3857Y	ENST00000529681.1	37	c.11570	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	C	4.873	0.162337	0.09287	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844	T;T	0.18174	2.23;2.42	1.98	1.98	0.26296	.	.	.	.	.	T	0.29288	0.0729	M	0.72894	2.215	0.09310	N	1	D;D	0.54964	0.969;0.969	P;P	0.53912	0.737;0.737	T	0.06826	-1.0805	9	0.87932	D	0	.	7.7042	0.28640	0.2496:0.7504:0.0:0.0	.	4382;3857	A7Y9J9;E9PBJ0	.;.	Y	3854;3857;3798;3759	ENSP00000436812:S3854Y;ENSP00000415793:S3857Y	ENSP00000343037:S3798Y	S	+	2	0	MUC5B	1226247	0.000000	0.05858	0.012000	0.15200	0.038000	0.13279	-0.348000	0.07740	1.456000	0.47831	0.194000	0.17425	TCT	MUC5B	-	NULL		0.647	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1269671	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.009	A
MUC5B	727897	genome.wustl.edu	37	11	1270922	1270922	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:1270922C>G	ENST00000529681.1	+	31	12870	c.12812C>G	c.(12811-12813)tCc>tGc	p.S4271C	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S4274C	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4271	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCCCGTCCTCCACCCCGGGA	0.642																																																	0													121.0	139.0	133.0					11																	1270922		2087	4188	6275	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.12812C>G	11.37:g.1270922C>G	ENSP00000436812:p.Ser4271Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S4274C	ENST00000529681.1	37	c.12821	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	c	2.096	-0.407183	0.04832	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.18810	2.19;2.38	1.92	1.92	0.25849	.	.	.	.	.	T	0.17152	0.0412	L	0.57536	1.79	0.09310	N	1	P;P	0.50156	0.932;0.932	B;B	0.31337	0.128;0.128	T	0.18808	-1.0325	9	0.87932	D	0	.	10.977	0.47472	0.0:1.0:0.0:0.0	.	4744;4274	A7Y9J9;E9PBJ0	.;.	C	4271;4274;4215;4121;50	ENSP00000436812:S4271C;ENSP00000415793:S4274C	ENSP00000343037:S4215C	S	+	2	0	MUC5B	1227498	0.001000	0.12720	0.001000	0.08648	0.224000	0.24922	1.130000	0.31393	1.092000	0.41356	0.064000	0.15345	TCC	MUC5B	-	NULL		0.642	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1270922	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.001	G
MUC5B	727897	genome.wustl.edu	37	11	1271112	1271112	+	Silent	SNP	C	C	T	rs372427592		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:1271112C>T	ENST00000529681.1	+	31	13060	c.13002C>T	c.(13000-13002)acC>acT	p.T4334T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T4337T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4334	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TTGGGACCACCGGGACCCTCC	0.617																																																	0								C		0,4318		0,0,2159	201.0	226.0	218.0		13002	-3.5	0.0	11		218	1,8495		0,1,4247	no	coding-synonymous	MUC5B	NM_002458.2		0,1,6406	TT,TC,CC		0.0118,0.0,0.0078		4334/5763	1271112	1,12813	2159	4248	6407	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13002C>T	11.37:g.1271112C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T4337	ENST00000529681.1	37	c.13011	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.617	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1271112	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.000	T
MUC5B	727897	genome.wustl.edu	37	11	1271258	1271258	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:1271258C>T	ENST00000529681.1	+	31	13206	c.13148C>T	c.(13147-13149)tCc>tTc	p.S4383F	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Missense_Mutation_p.S4386F	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4383	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		TCCACCCCCTCCTCCACTCCG	0.662																																																	0													106.0	120.0	115.0					11																	1271258		2103	4204	6307	SO:0001583	missense	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.13148C>T	11.37:g.1271258C>T	ENSP00000436812:p.Ser4383Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.S4386F	ENST00000529681.1	37	c.13157	CCDS44515.2	11	.	.	.	.	.	.	.	.	.	.	-	5.780	0.328185	0.10956	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637;ENST00000406844;ENST00000535652	T;T	0.19806	2.12;2.31	1.89	1.89	0.25635	.	.	.	.	.	T	0.16041	0.0386	L	0.43152	1.355	0.09310	N	1	P;P	0.50156	0.932;0.932	B;B	0.38106	0.265;0.265	T	0.14727	-1.0462	9	0.87932	D	0	.	7.8532	0.29468	0.0:1.0:0.0:0.0	.	4856;4386	A7Y9J9;E9PBJ0	.;.	F	4383;4386;4327;4233;162	ENSP00000436812:S4383F;ENSP00000415793:S4386F	ENSP00000343037:S4327F	S	+	2	0	MUC5B	1227834	0.001000	0.12720	0.007000	0.13788	0.063000	0.16089	1.126000	0.31344	1.032000	0.39892	0.064000	0.15345	TCC	MUC5B	-	NULL		0.662	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	C	XM_001126093		1271258	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	missense	SNP	0.024	T
MUL1	79594	genome.wustl.edu	37	1	20827823	20827823	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:20827823C>T	ENST00000264198.3	-	4	555	c.419G>A	c.(418-420)cGa>cAa	p.R140Q		NM_024544.2	NP_078820.2	Q969V5	MUL1_HUMAN	mitochondrial E3 ubiquitin protein ligase 1	140					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|cellular response to exogenous dsRNA (GO:0071360)|mitochondrial fission (GO:0000266)|mitochondrion localization (GO:0051646)|negative regulation of cell growth (GO:0030308)|negative regulation of chemokine (C-C motif) ligand 5 production (GO:0071650)|negative regulation of defense response to virus by host (GO:0050689)|negative regulation of innate immune response (GO:0045824)|negative regulation of mitochondrial fusion (GO:0010637)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fission (GO:0090141)|positive regulation of protein sumoylation (GO:0033235)|protein stabilization (GO:0050821)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901028)	cytoplasm (GO:0005737)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisome (GO:0005777)	identical protein binding (GO:0042802)|signal transducer activity (GO:0004871)|SUMO ligase activity (GO:0019789)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CTTCAGCACTCGCACAGCCAC	0.527																																																	0													76.0	82.0	80.0					1																	20827823		2203	4300	6503	SO:0001583	missense	79594			BC014010	CCDS208.1	1p36.12	2013-01-11	2010-09-17	2008-03-26	ENSG00000090432	ENSG00000090432		"""RING-type (C3HC4) zinc fingers"""	25762	protein-coding gene	gene with protein product	"""ring finger protein 218"", ""mitochondria-anchored protein ligase"", ""growth inhibition and death E3 ligase"", ""mitochondrial ubiquitin ligase activator of NFKB 1"""	612037	"""chromosome 1 open reading frame 166"""	C1orf166		18591963, 12761501, 18213395, 18207745	Standard	NM_024544		Approved	FLJ12875, MULAN, RNF218, MAPL, GIDE	uc001bdi.4	Q969V5	OTTHUMG00000002838	ENST00000264198.3:c.419G>A	1.37:g.20827823C>T	ENSP00000264198:p.Arg140Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B5M497|Q7Z431|Q9H9B5	Missense_Mutation	SNP	pfam_GIDE,pfscan_Znf_RING	p.R140Q	ENST00000264198.3	37	c.419	CCDS208.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.321231	0.95682	.	.	ENSG00000090432	ENST00000264198	T	0.23147	1.92	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.16276	-1.0408	10	0.30078	T	0.28	-14.1837	18.3732	0.90420	0.0:1.0:0.0:0.0	.	140	Q969V5	MUL1_HUMAN	Q	140	ENSP00000264198:R140Q	ENSP00000264198:R140Q	R	-	2	0	MUL1	20700410	1.000000	0.71417	0.980000	0.43619	0.865000	0.49528	7.487000	0.81328	2.941000	0.99782	0.655000	0.94253	CGA	MUL1	-	pfam_GIDE		0.527	MUL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUL1	HGNC	protein_coding	OTTHUMT00000007951.1	C	NM_024544		20827823	-1	no_errors	ENST00000264198	ensembl	human	known	70_37	missense	SNP	1.000	T
LINC01317	104355287	genome.wustl.edu	37	2	33953103	33953103	+	lincRNA	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:33953103G>A	ENST00000366209.2	+	0	68				MYADML_ENST00000474610.1_RNA																							TCTGGCTGTGGAAACGGATTA	0.607																																																	0																																												151325																															2.37:g.33953103G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000366209.2	37	NULL		2																																																																																			MYADML	-	-		0.607	AC009499.1-002	KNOWN	non_canonical_polymorphism|basic	lincRNA	MYADML	HGNC	lincRNA	OTTHUMT00000325406.1	G			33953103	-1	no_errors	ENST00000474610	ensembl	human	known	70_37	rna	SNP	0.002	A
MYF6	4618	genome.wustl.edu	37	12	81102693	81102693	+	Missense_Mutation	SNP	C	C	G	rs201098963		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:81102693C>G	ENST00000228641.3	+	3	905	c.683C>G	c.(682-684)tCg>tGg	p.S228W		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	228					muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle tissue morphogenesis (GO:0060415)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|skeletal muscle tissue regeneration (GO:0043403)|somitogenesis (GO:0001756)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AGTATTTCCTCGGAGGAACGC	0.522																																																	0													134.0	116.0	122.0					12																	81102693		2203	4300	6503	SO:0001583	missense	4618				CCDS9019.1	12q21	2013-05-21				ENSG00000111046		"""Basic helix-loop-helix proteins"""	7566	protein-coding gene	gene with protein product	"""muscle-specific regulatory factor 4"""	159991				8978788	Standard	NM_002469		Approved	MRF4, bHLHc4	uc001szf.2	P23409		ENST00000228641.3:c.683C>G	12.37:g.81102693C>G	ENSP00000228641:p.Ser228Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R898|Q53X80|Q6FHI9	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.S228W	ENST00000228641.3	37	c.683	CCDS9019.1	12	.	.	.	.	.	.	.	.	.	.	C	16.33	3.094278	0.56075	.	.	ENSG00000111046	ENST00000228641	D	0.96522	-4.04	5.6	5.6	0.85130	.	0.169939	0.51477	D	0.000081	D	0.97486	0.9177	M	0.64997	1.995	0.58432	D	0.999996	D	0.76494	0.999	D	0.65443	0.935	D	0.97978	1.0347	10	0.72032	D	0.01	-36.0983	17.393	0.87437	0.0:1.0:0.0:0.0	.	228	P23409	MYF6_HUMAN	W	228	ENSP00000228641:S228W	ENSP00000228641:S228W	S	+	2	0	MYF6	79626824	0.991000	0.36638	0.996000	0.52242	0.997000	0.91878	3.218000	0.51192	2.638000	0.89438	0.591000	0.81541	TCG	MYF6	-	NULL		0.522	MYF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYF6	HGNC	protein_coding	OTTHUMT00000407756.1	C	NM_002469		81102693	+1	no_errors	ENST00000228641	ensembl	human	known	70_37	missense	SNP	0.974	G
MYH10	4628	genome.wustl.edu	37	17	8445559	8445559	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:8445559C>G	ENST00000269243.4	-	13	1579	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	MYH10_ENST00000360416.3_Missense_Mutation_p.E491Q|MYH10_ENST00000379980.4_Missense_Mutation_p.E497Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E481Q	NM_005964.3	NP_005955.3	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	481	Myosin motor.				actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cardiac myofibril assembly (GO:0055003)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|cerebellar Purkinje cell layer development (GO:0021680)|exocytosis (GO:0006887)|fourth ventricle development (GO:0021592)|in utero embryonic development (GO:0001701)|lateral ventricle development (GO:0021670)|mitotic cytokinesis (GO:0000281)|neuromuscular process controlling balance (GO:0050885)|neuron migration (GO:0001764)|nuclear migration (GO:0007097)|plasma membrane repair (GO:0001778)|regulation of cell shape (GO:0008360)|retina development in camera-type eye (GO:0060041)|substrate-dependent cell migration, cell extension (GO:0006930)|third ventricle development (GO:0021678)|ventricular cardiac muscle cell development (GO:0055015)	actomyosin (GO:0042641)|axon (GO:0030424)|cell cortex (GO:0005938)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|midbody (GO:0030496)|myosin complex (GO:0016459)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle (GO:0005819)|stress fiber (GO:0001725)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGCAGCTTCTCATTGGTGTAG	0.448																																																	0													138.0	123.0	128.0					17																	8445559		2203	4300	6503	SO:0001583	missense	4628			M69181	CCDS11144.1, CCDS58515.1, CCDS73984.1	17p13	2011-09-27	2006-09-29		ENSG00000133026	ENSG00000133026		"""Myosins / Myosin superfamily : Class II"""	7568	protein-coding gene	gene with protein product		160776	"""myosin, heavy polypeptide 10, non-muscle"""			1860190	Standard	NM_001256012		Approved	NMMHCB	uc002glm.4	P35580	OTTHUMG00000108195	ENST00000269243.4:c.1441G>C	17.37:g.8445559C>G	ENSP00000269243:p.Glu481Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RWP9|D3DTS1|F8VTL3|Q12989|Q149N3|Q149N4|Q16087|Q4LE45|Q6PK16|Q9BWG0	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Prefoldin,superfamily_HR1_rho-bd,superfamily_UBA-like,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E481Q	ENST00000269243.4	37	c.1441	CCDS11144.1	17	.	.	.	.	.	.	.	.	.	.	C	22.3	4.273179	0.80580	.	.	ENSG00000133026	ENST00000269243;ENST00000360416;ENST00000396239;ENST00000379980	D;D;D;D	0.98150	-1.65;-1.65;-4.75;-1.65	5.09	5.09	0.68999	Myosin head, motor domain (3);	0.099522	0.64402	D	0.000002	D	0.98473	0.9491	H	0.98333	4.205	0.80722	D	1	B;B;B	0.33073	0.396;0.098;0.396	B;B;B	0.32090	0.14;0.135;0.14	D	0.99572	1.0971	10	0.87932	D	0	.	19.0562	0.93066	0.0:1.0:0.0:0.0	.	490;491;481	B2RWP9;F8VTL3;P35580	.;.;MYH10_HUMAN	Q	481;491;481;497	ENSP00000269243:E481Q;ENSP00000353590:E491Q;ENSP00000379539:E481Q;ENSP00000369315:E497Q	ENSP00000269243:E481Q	E	-	1	0	MYH10	8386284	1.000000	0.71417	0.981000	0.43875	0.988000	0.76386	7.651000	0.83577	2.804000	0.96469	0.655000	0.94253	GAG	MYH10	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom		0.448	MYH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH10	HGNC	protein_coding	OTTHUMT00000227001.2	C			8445559	-1	no_errors	ENST00000396239	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH13	8735	genome.wustl.edu	37	17	10213054	10213054	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:10213054C>T	ENST00000418404.3	-	33	4913	c.4750G>A	c.(4750-4752)Gat>Aat	p.D1584N	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.D1584N			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1584					cellular response to starvation (GO:0009267)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)	extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ATTTCTTCATCCTTCTCAATG	0.567																																																	0													46.0	46.0	46.0					17																	10213054		2085	4229	6314	SO:0001583	missense	8735			AF075248	CCDS45613.1	17p13	2011-09-27	2006-09-29			ENSG00000006788		"""Myosins / Myosin superfamily : Class II"""	7571	protein-coding gene	gene with protein product	"""extraocular muscle myosin heavy chain"", ""extraocular myosin heavy chain"""	603487	"""myosin, heavy polypeptide 13, skeletal muscle"""			9806854	Standard	NM_003802		Approved	MyHC-eo	uc002gmk.1	Q9UKX3		ENST00000418404.3:c.4750G>A	17.37:g.10213054C>T	ENSP00000404570:p.Asp1584Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95252|Q9P0U8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D1584N	ENST00000418404.3	37	c.4750	CCDS45613.1	17	.	.	.	.	.	.	.	.	.	.	C	17.65	3.441594	0.63067	.	.	ENSG00000006788	ENST00000252172	T	0.80393	-1.37	4.18	4.18	0.49190	Myosin tail (1);	.	.	.	.	D	0.88503	0.6454	M	0.69823	2.125	0.48135	D	0.999596	D	0.62365	0.991	D	0.70016	0.967	D	0.89698	0.3903	9	0.59425	D	0.04	.	17.0639	0.86554	0.0:1.0:0.0:0.0	.	1584	Q9UKX3	MYH13_HUMAN	N	1584	ENSP00000252172:D1584N	ENSP00000252172:D1584N	D	-	1	0	MYH13	10153779	1.000000	0.71417	1.000000	0.80357	0.633000	0.38033	7.731000	0.84895	2.326000	0.78906	0.462000	0.41574	GAT	MYH13	-	pfam_Myosin_tail		0.567	MYH13-003	KNOWN	alternative_3_UTR|alternative_5_UTR|NMD_exception|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MYH13	HGNC	protein_coding	OTTHUMT00000442255.1	C	NM_003802		10213054	-1	no_errors	ENST00000252172	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH1	4619	genome.wustl.edu	37	17	10398307	10398307	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:10398307C>T	ENST00000226207.5	-	37	5501	c.5407G>A	c.(5407-5409)Gag>Aag	p.E1803K	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1803					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGCTCAGCCTCATCCAGACGA	0.547																																																	0													139.0	136.0	137.0					17																	10398307		2203	4300	6503	SO:0001583	missense	4619				CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.5407G>A	17.37:g.10398307C>T	ENSP00000226207:p.Glu1803Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CA4|Q9Y622	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E1803K	ENST00000226207.5	37	c.5407	CCDS11155.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.607424	0.96626	.	.	ENSG00000109061	ENST00000226207	D	0.81579	-1.51	5.26	5.26	0.73747	Myosin tail (1);	0.000000	0.43579	U	0.000542	D	0.94205	0.8140	H	0.98407	4.225	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.96297	0.9218	10	0.87932	D	0	.	19.2282	0.93825	0.0:1.0:0.0:0.0	.	1803	P12882	MYH1_HUMAN	K	1803	ENSP00000226207:E1803K	ENSP00000226207:E1803K	E	-	1	0	MYH1	10339032	1.000000	0.71417	0.998000	0.56505	0.974000	0.67602	7.772000	0.85439	2.616000	0.88540	0.561000	0.74099	GAG	MYH1	-	pfam_Myosin_tail		0.547	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH1	HGNC	protein_coding	OTTHUMT00000252725.1	C	NM_005963		10398307	-1	no_errors	ENST00000226207	ensembl	human	known	70_37	missense	SNP	1.000	T
MYH2	4620	genome.wustl.edu	37	17	10430338	10430338	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:10430338G>A	ENST00000245503.5	-	29	4291	c.3907C>T	c.(3907-3909)Ctg>Ttg	p.L1303L	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.L1303L|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1303					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.L1303V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAGACACCAGAGCTTCCTTT	0.383																																																	1	Substitution - Missense(1)	lung(1)											86.0	82.0	83.0					17																	10430338		2203	4300	6503	SO:0001819	synonymous_variant	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3907C>T	17.37:g.10430338G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Silent	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L1303	ENST00000245503.5	37	c.3907	CCDS11156.1	17																																																																																			MYH2	-	pfam_Myosin_tail,superfamily_Prefoldin		0.383	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10430338	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	silent	SNP	0.330	A
MYH7	4625	genome.wustl.edu	37	14	23896894	23896894	+	Missense_Mutation	SNP	C	C	G	rs483352948		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:23896894C>G	ENST00000355349.3	-	16	1950	c.1788G>C	c.(1786-1788)aaG>aaC	p.K596N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	596	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GATCCTTGTTCTTCTGCAGCC	0.537																																																	0													135.0	115.0	122.0					14																	23896894		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.1788G>C	14.37:g.23896894C>G	ENSP00000347507:p.Lys596Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.K596N	ENST00000355349.3	37	c.1788	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	15.27	2.783296	0.49891	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.97328	-4.34	4.83	2.96	0.34315	Myosin head, motor domain (2);	.	.	.	.	D	0.99099	0.9690	H	0.99820	4.81	0.58432	D	0.999993	P	0.38617	0.64	P	0.57371	0.819	D	0.98208	1.0471	9	0.87932	D	0	.	10.5784	0.45240	0.0:0.8392:0.0:0.1608	.	596	P12883	MYH7_HUMAN	N	596	ENSP00000347507:K596N	ENSP00000347507:K596N	K	-	3	2	MYH7	22966734	1.000000	0.71417	1.000000	0.80357	0.159000	0.22180	3.608000	0.54109	0.733000	0.32492	0.558000	0.71614	AAG	MYH7	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.537	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23896894	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	1.000	G
MYH7	4625	genome.wustl.edu	37	14	23899789	23899789	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:23899789C>T	ENST00000355349.3	-	11	1141	c.979G>A	c.(979-981)Gag>Aag	p.E327K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	327	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ATGAGCTCCTCAGCGTCATCA	0.547																																																	0													100.0	74.0	83.0					14																	23899789		2203	4300	6503	SO:0001583	missense	4625			M58018	CCDS9601.1	14q11.2-q13	2014-09-17	2006-09-29		ENSG00000092054	ENSG00000092054		"""Myosins / Myosin superfamily : Class II"""	7577	protein-coding gene	gene with protein product		160760	"""myopathy, distal 1"", ""myosin, heavy polypeptide 7, cardiac muscle, beta"""	CMH1, MPD1		2494889, 8483915, 15322983	Standard	XM_005267696		Approved	CMD1S	uc001wjx.3	P12883	OTTHUMG00000028755	ENST00000355349.3:c.979G>A	14.37:g.23899789C>T	ENSP00000347507:p.Glu327Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A2TDB6|B6D424|Q14836|Q14837|Q14904|Q16579|Q2M1Y6|Q92679|Q9H1D5|Q9UDA2|Q9UMM8	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E327K	ENST00000355349.3	37	c.979	CCDS9601.1	14	.	.	.	.	.	.	.	.	.	.	C	22.3	4.278054	0.80692	.	.	ENSG00000092054	ENST00000355349;ENST00000544444	D	0.87491	-2.26	3.41	3.41	0.39046	Myosin head, motor domain (2);	.	.	.	.	D	0.89491	0.6730	L	0.58810	1.83	0.58432	D	0.999992	B	0.23316	0.083	B	0.43445	0.42	D	0.89446	0.3727	9	0.62326	D	0.03	.	14.9954	0.71428	0.0:1.0:0.0:0.0	.	327	P12883	MYH7_HUMAN	K	327	ENSP00000347507:E327K	ENSP00000347507:E327K	E	-	1	0	MYH7	22969629	1.000000	0.71417	0.968000	0.41197	0.686000	0.39977	5.775000	0.68915	1.741000	0.51731	0.462000	0.41574	GAG	MYH7	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.547	MYH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH7	HGNC	protein_coding	OTTHUMT00000071798.3	C	NM_000257		23899789	-1	no_errors	ENST00000355349	ensembl	human	known	70_37	missense	SNP	0.997	T
MYH9	4627	genome.wustl.edu	37	22	36697735	36697735	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:36697735G>A	ENST00000216181.5	-	21	2730					NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle						actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TAGAGGTAGAGACATGCTCGG	0.592			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	0													48.0	41.0	44.0					22																	36697735		2202	4300	6502	SO:0001627	intron_variant	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.2500-24C>T	22.37:g.36697735G>A		Somatic	864	WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	RNA	SNP	-	NULL	ENST00000216181.5	37	NULL	CCDS13927.1	22																																																																																			MYH9	-	-		0.592	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	G	NM_002473		36697735	-1	no_errors	ENST00000495928	ensembl	human	putative	70_37	rna	SNP	0.002	A
MYO15A	51168	genome.wustl.edu	37	17	18061908	18061908	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:18061908C>G	ENST00000205890.5	+	52	9377	c.9039C>G	c.(9037-9039)ctC>ctG	p.L3013L	MYO15A_ENST00000418233.3_Silent_p.L277L|MYO15A_ENST00000451725.2_5'Flank	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3013	Tail.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ACACAATGCTCGAGTTTGCCC	0.652																																																	0													83.0	84.0	84.0					17																	18061908		1944	4141	6085	SO:0001819	synonymous_variant	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.9039C>G	17.37:g.18061908C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFC7	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.L3013	ENST00000205890.5	37	c.9039	CCDS42271.1	17																																																																																			MYO15A	-	NULL		0.652	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	C	NM_016239		18061908	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	silent	SNP	0.888	G
MYO16	23026	genome.wustl.edu	37	13	109445889	109445889	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:109445889G>C	ENST00000357550.2	+	5	617	c.576G>C	c.(574-576)caG>caC	p.Q192H	MYO16_ENST00000356711.2_Missense_Mutation_p.Q192H|MYO16_ENST00000251041.5_Missense_Mutation_p.Q192H	NM_001198950.1	NP_001185879.1			myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CACTGCGCCAGATGAAGCTTC	0.448																																																	0													132.0	124.0	127.0					13																	109445889		2203	4300	6503	SO:0001583	missense	23026				CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000357550.2:c.576G>C	13.37:g.109445889G>C	ENSP00000350160:p.Gln192His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Myosin_head_motor_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.Q192H	ENST00000357550.2	37	c.576	CCDS32008.1	13	.	.	.	.	.	.	.	.	.	.	G	16.51	3.144701	0.57044	.	.	ENSG00000041515	ENST00000356711;ENST00000397258;ENST00000357550;ENST00000251041	T;T;T	0.52983	0.64;0.64;0.64	5.76	4.04	0.47022	Ankyrin repeat-containing domain (3);	0.000000	0.38548	U	0.001654	T	0.62588	0.2440	M	0.72118	2.19	0.80722	D	1	D;D	0.69078	0.996;0.997	P;D	0.64687	0.885;0.928	T	0.61869	-0.6974	9	.	.	.	.	10.5449	0.45054	0.1576:0.0:0.8424:0.0	.	192;192	Q9Y6X6-2;Q9Y6X6	.;MYO16_HUMAN	H	192	ENSP00000349145:Q192H;ENSP00000350160:Q192H;ENSP00000251041:Q192H	.	Q	+	3	2	MYO16	108243890	1.000000	0.71417	0.996000	0.52242	0.820000	0.46376	1.730000	0.38125	0.791000	0.33826	0.591000	0.81541	CAG	MYO16	-	superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt-contain_dom		0.448	MYO16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO16	HGNC	protein_coding	OTTHUMT00000045746.1	G	NM_015011		109445889	+1	no_errors	ENST00000356711	ensembl	human	known	70_37	missense	SNP	1.000	C
MYO19	80179	genome.wustl.edu	37	17	34856777	34856777	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:34856777C>T	ENST00000431794.3	-	23	2792	c.2270G>A	c.(2269-2271)cGt>cAt	p.R757H	MYO19_ENST00000268852.9_Missense_Mutation_p.R557H	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	757	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.R757H(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CACCCGGGCACGCCCACATTC	0.662																																																	1	Substitution - Missense(1)	large_intestine(1)											21.0	25.0	24.0					17																	34856777		2121	4239	6360	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2270G>A	17.37:g.34856777C>T	ENSP00000409936:p.Arg757His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R757H	ENST00000431794.3	37	c.2270	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	C	29.0	4.967170	0.92855	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	T;T	0.68181	-0.31;-0.31	5.12	5.12	0.69794	Myosin head, motor domain (1);	0.000000	0.38605	N	0.001627	D	0.83792	0.5331	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.915;0.999	D	0.86672	0.1911	10	0.87932	D	0	.	15.6285	0.76882	0.0:1.0:0.0:0.0	.	757;557	Q96H55;Q96H55-4	MYO19_HUMAN;.	H	757;557	ENSP00000409936:R757H;ENSP00000268852:R557H	ENSP00000268852:R557H	R	-	2	0	MYO19	31930890	0.997000	0.39634	0.993000	0.49108	0.832000	0.47134	6.319000	0.72871	2.532000	0.85374	0.462000	0.41574	CGT	MYO19	-	smart_Myosin_head_motor_dom		0.662	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	C	NM_025109		34856777	-1	no_errors	ENST00000431794	ensembl	human	known	70_37	missense	SNP	0.988	T
MYO1D	4642	genome.wustl.edu	37	17	30980882	30980882	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:30980882G>C	ENST00000318217.5	-	19	2878	c.2574C>G	c.(2572-2574)ctC>ctG	p.L858L	RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.L858L|MYO1D_ENST00000394649.4_Silent_p.L770L	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	858	Myosin tail. {ECO:0000255}.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			GACAGGAAAAGAGGACATTCA	0.413																																																	0													144.0	116.0	125.0					17																	30980882		2203	4300	6503	SO:0001819	synonymous_variant	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2574C>G	17.37:g.30980882G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V3|Q8NHP9	Silent	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.L858	ENST00000318217.5	37	c.2574	CCDS32615.1	17																																																																																			MYO1D	-	pfam_Myosin_tail_2		0.413	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	G			30980882	-1	no_errors	ENST00000318217	ensembl	human	known	70_37	silent	SNP	1.000	C
MYO19	80179	genome.wustl.edu	37	17	34856921	34856921	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:34856921C>T	ENST00000431794.3	-	22	2757	c.2235G>A	c.(2233-2235)atG>atA	p.M745I	MYO19_ENST00000268852.9_Missense_Mutation_p.M545I	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	745	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TAGAGTCAGTCATGAACACCT	0.602																																																	0													118.0	120.0	119.0					17																	34856921		2119	4245	6364	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.2235G>A	17.37:g.34856921C>T	ENSP00000409936:p.Met745Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.M745I	ENST00000431794.3	37	c.2235	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	C	4.295	0.053880	0.08291	.	.	ENSG00000141140	ENST00000431794;ENST00000268852	D;D	0.94723	-3.5;-3.5	5.08	4.11	0.48088	Myosin head, motor domain (1);	0.131649	0.34386	N	0.004004	D	0.89653	0.6777	N	0.20685	0.6	0.80722	D	1	B;B	0.19583	0.037;0.001	B;B	0.17098	0.017;0.004	D	0.84135	0.0414	10	0.72032	D	0.01	.	15.1218	0.72450	0.1434:0.8566:0.0:0.0	.	745;545	Q96H55;Q96H55-4	MYO19_HUMAN;.	I	745;545	ENSP00000409936:M745I;ENSP00000268852:M545I	ENSP00000268852:M545I	M	-	3	0	MYO19	31931034	1.000000	0.71417	0.941000	0.38009	0.092000	0.18411	2.131000	0.42074	0.646000	0.30693	-2.048000	0.00412	ATG	MYO19	-	smart_Myosin_head_motor_dom		0.602	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	C	NM_025109		34856921	-1	no_errors	ENST00000431794	ensembl	human	known	70_37	missense	SNP	1.000	T
MYO9A	4649	genome.wustl.edu	37	15	72252262	72252262	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:72252262C>T	ENST00000356056.5	-	14	2634	c.2162G>A	c.(2161-2163)aGa>aAa	p.R721K	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000564571.1_Missense_Mutation_p.R721K|MYO9A_ENST00000444904.1_Missense_Mutation_p.R702K|MYO9A_ENST00000424560.1_Missense_Mutation_p.R721K|MYO9A_ENST00000566885.1_Missense_Mutation_p.R316K	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	721	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGAATGTTTCTTTTCCCAGC	0.373																																																	0													61.0	58.0	59.0					15																	72252262		2199	4297	6496	SO:0001583	missense	4649			AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2162G>A	15.37:g.72252262C>T	ENSP00000348349:p.Arg721Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom	p.R721K	ENST00000356056.5	37	c.2162	CCDS10239.1	15	.	.	.	.	.	.	.	.	.	.	C	23.9	4.469021	0.84533	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864;ENST00000446448	D;D;D	0.84660	-1.88;-1.87;-1.87	5.49	5.49	0.81192	Myosin head, motor domain (1);	.	.	.	.	T	0.77519	0.4142	N	0.01482	-0.84	0.58432	D	0.999998	D;B;B;B	0.67145	0.996;0.036;0.082;0.213	D;B;B;B	0.63113	0.911;0.036;0.036;0.262	T	0.74842	-0.3527	9	0.02654	T	1	.	19.3733	0.94498	0.0:1.0:0.0:0.0	.	702;721;702;721	B2RTY4-2;B2RTY4-3;B7WP69;B2RTY4	.;.;.;MYO9A_HUMAN	K	721;721;702;702;721	ENSP00000348349:R721K;ENSP00000399162:R721K;ENSP00000398250:R702K	ENSP00000261864:R702K	R	-	2	0	MYO9A	70039316	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	5.694000	0.68272	2.584000	0.87258	0.460000	0.39030	AGA	MYO9A	-	smart_Myosin_head_motor_dom		0.373	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO9A	HGNC	protein_coding	OTTHUMT00000257308.1	C	NM_006901		72252262	-1	no_errors	ENST00000424560	ensembl	human	known	70_37	missense	SNP	1.000	T
MYOCD	93649	genome.wustl.edu	37	17	12656108	12656108	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:12656108G>A	ENST00000343344.4	+	10	1503	c.1503G>A	c.(1501-1503)ctG>ctA	p.L501L	MYOCD_ENST00000425538.1_Silent_p.L501L|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.L405L			Q8IZQ8	MYCD_HUMAN	myocardin	501	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGAGCAGCCTGAATGGGGGCT	0.587																																																	0													49.0	47.0	48.0					17																	12656108		2203	4300	6503	SO:0001819	synonymous_variant	93649			AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1503G>A	17.37:g.12656108G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5UBU5|Q8N7Q1	Silent	SNP	pfam_RPEL_repeat,pfam_SAP_DNA-bd,smart_RPEL_repeat,smart_SAP_DNA-bd,pfscan_RPEL_repeat,pfscan_SAP_DNA-bd	p.L501	ENST00000343344.4	37	c.1503	CCDS11163.1	17																																																																																			MYOCD	-	NULL		0.587	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOCD	HGNC	protein_coding	OTTHUMT00000129950.1	G	NM_153604		12656108	+1	no_errors	ENST00000425538	ensembl	human	known	70_37	silent	SNP	0.711	A
MYOD1	4654	genome.wustl.edu	37	11	17741623	17741623	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:17741623C>T	ENST00000250003.3	+	1	509	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_002478.4	NP_002469.2	P15172	MYOD1_HUMAN	myogenic differentiation 1	98					cellular response to estradiol stimulus (GO:0071392)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to oxygen levels (GO:0071453)|cellular response to starvation (GO:0009267)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|myoblast fate determination (GO:0007518)|myotube cell development (GO:0014904)|myotube differentiation involved in skeletal muscle regeneration (GO:0014908)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of skeletal muscle tissue regeneration (GO:0043415)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of RNA splicing (GO:0043484)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|transcription from RNA polymerase II promoter (GO:0006366)	myofibril (GO:0030016)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						TGTGGGCCTGCAAGGCGTGCA	0.721																																																	0													11.0	9.0	9.0					11																	17741623		2136	4175	6311	SO:0001819	synonymous_variant	4654			AF027148	CCDS7826.1	11p15	2013-05-21	2005-09-12			ENSG00000129152		"""Basic helix-loop-helix proteins"""	7611	protein-coding gene	gene with protein product	"""myoblast determination protein 1"""	159970	"""myogenic factor 3"""	MYF3			Standard	NM_002478		Approved	PUM, MYOD, bHLHc1	uc001mni.3	P15172		ENST00000250003.3:c.294C>T	11.37:g.17741623C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75321	Silent	SNP	pfam_Basic,pfam_Myf5,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.C98	ENST00000250003.3	37	c.294	CCDS7826.1	11																																																																																			MYOD1	-	pfam_Basic,smart_Basic		0.721	MYOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOD1	HGNC	protein_coding	OTTHUMT00000389387.1	C	NM_002478		17741623	+1	no_errors	ENST00000250003	ensembl	human	known	70_37	silent	SNP	1.000	T
MYOG	4656	genome.wustl.edu	37	1	203054799	203054799	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203054799C>T	ENST00000241651.4	-	1	365	c.291G>A	c.(289-291)gtG>gtA	p.V97V		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	97	bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						AGGCCTCATTCACCTTCTTGA	0.632																																																	0													81.0	82.0	81.0					1																	203054799		2203	4300	6503	SO:0001819	synonymous_variant	4656			BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.291G>A	1.37:g.203054799C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XW6	Silent	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.V97	ENST00000241651.4	37	c.291	CCDS1433.1	1																																																																																			MYOG	-	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom		0.632	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOG	HGNC	protein_coding	OTTHUMT00000100279.1	C	NM_002479		203054799	-1	no_errors	ENST00000241651	ensembl	human	known	70_37	silent	SNP	1.000	T
MYOG	4656	genome.wustl.edu	37	1	203055086	203055086	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203055086C>G	ENST00000241651.4	-	1	78	c.4G>C	c.(4-6)Gag>Cag	p.E2Q		NM_002479.5	NP_002470.2	P15173	MYOG_HUMAN	myogenin (myogenic factor 4)	2					cell cycle (GO:0007049)|cellular response to estradiol stimulus (GO:0071392)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lithium ion (GO:0071285)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|negative regulation of cell proliferation (GO:0008285)|ossification (GO:0001503)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of muscle atrophy (GO:0014737)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of skeletal muscle fiber development (GO:0048743)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of myoblast fusion (GO:1901739)|regulation of satellite cell proliferation (GO:0014842)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to electrical stimulus involved in regulation of muscle adaptation (GO:0014878)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|skeletal muscle fiber development (GO:0048741)|skeletal muscle tissue development (GO:0007519)|striated muscle atrophy (GO:0014891)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein-DNA complex (GO:0032993)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|urinary_tract(1)	12						TCATACAGCTCCATGGGGTCG	0.592											OREG0002107	type=REGULATORY REGION|Gene=MYOG|EvidenceSubtype=Chloramphenicol acetyltransferase (CAT) Assay																																					0													35.0	29.0	31.0					1																	203055086		2203	4300	6503	SO:0001583	missense	4656			BC053899	CCDS1433.1	1q31-q41	2013-05-21			ENSG00000122180	ENSG00000122180		"""Basic helix-loop-helix proteins"""	7612	protein-coding gene	gene with protein product		159980		MYF4		10329008	Standard	NM_002479		Approved	bHLHc3	uc001gzd.4	P15173	OTTHUMG00000042127	ENST00000241651.4:c.4G>C	1.37:g.203055086C>G	ENSP00000241651:p.Glu2Gln	Somatic	2134	WXS	Illumina HiSeq	Phase_IV	Q53XW6	Missense_Mutation	SNP	pfam_Basic,pfam_HLH_dom,superfamily_HLH_dom,smart_Basic,smart_HLH_dom,pfscan_HLH_dom	p.E2Q	ENST00000241651.4	37	c.4	CCDS1433.1	1	.	.	.	.	.	.	.	.	.	.	c	24.2	4.505571	0.85282	.	.	ENSG00000122180	ENST00000241651	D	0.81739	-1.53	5.54	5.54	0.83059	Myogenic basic muscle-specific protein (2);	0.045818	0.85682	N	0.000000	D	0.89153	0.6634	M	0.68593	2.085	0.58432	D	0.999999	D	0.89917	1.0	D	0.75020	0.985	D	0.89738	0.3931	10	0.87932	D	0	.	19.4994	0.95086	0.0:1.0:0.0:0.0	.	2	P15173	MYOG_HUMAN	Q	2	ENSP00000241651:E2Q	ENSP00000241651:E2Q	E	-	1	0	MYOG	201321709	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	7.450000	0.80656	2.610000	0.88304	0.457000	0.33378	GAG	MYOG	-	pfam_Basic,smart_Basic		0.592	MYOG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYOG	HGNC	protein_coding	OTTHUMT00000100279.1	C	NM_002479		203055086	-1	no_errors	ENST00000241651	ensembl	human	known	70_37	missense	SNP	1.000	G
MYT1L	23040	genome.wustl.edu	37	2	1920995	1920995	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:1920995C>A	ENST00000399161.2	-	11	2347	c.1600G>T	c.(1600-1602)Gat>Tat	p.D534Y	MYT1L_ENST00000428368.2_Missense_Mutation_p.D532Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	534					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGGACCCTATCTTTGTGCGGG	0.562																																																	0													195.0	204.0	201.0					2																	1920995		2056	4187	6243	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1600G>T	2.37:g.1920995C>A	ENSP00000382114:p.Asp534Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.D534Y	ENST00000399161.2	37	c.1600		2	.	.	.	.	.	.	.	.	.	.	C	26.9	4.783599	0.90282	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.52754	0.67;0.65	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.74997	0.3790	M	0.87269	2.87	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.78409	-0.2215	10	0.72032	D	0.01	-44.5056	19.8984	0.96975	0.0:1.0:0.0:0.0	.	534;532	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Y	534;480;532	ENSP00000382114:D534Y;ENSP00000396103:D532Y	ENSP00000295067:D480Y	D	-	1	0	MYT1L	1900002	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.755000	0.85180	2.713000	0.92767	0.655000	0.94253	GAT	MYT1L	-	NULL		0.562	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1920995	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	missense	SNP	1.000	A
NAA16	79612	genome.wustl.edu	37	13	41947823	41947823	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:41947823G>A	ENST00000379406.3	+	18	2530	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	736					N-terminal protein amino acid acetylation (GO:0006474)|negative regulation of apoptotic process (GO:0043066)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NatA complex (GO:0031415)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ribosome binding (GO:0043022)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TCTATCTCAAGAAATGCAGAA	0.313																																																	0													93.0	101.0	98.0					13																	41947823		2203	4300	6503	SO:0001583	missense	79612			AL833341	CCDS9379.1, CCDS45044.1	13q14.11	2013-01-10	2010-01-14	2010-01-14	ENSG00000172766	ENSG00000172766		"""N(alpha)-acetyltransferase subunits"", ""Tetratricopeptide (TTC) repeat domain containing"""	26164	protein-coding gene	gene with protein product			"""NMDA receptor regulated 1-like"""	NARG1L		11483580, 19660095	Standard	NM_024561		Approved	FLJ22054, MGC40612, PRO2435	uc001uyf.2	Q6N069	OTTHUMG00000016791	ENST00000379406.3:c.2206G>A	13.37:g.41947823G>A	ENSP00000368716:p.Glu736Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ59|Q5VSP9|Q6P2D5|Q8N5J3|Q8N870	Missense_Mutation	SNP	pfam_TPR_2,pfam_NatA_aux_su,pfam_TPR-1,smart_TPR_repeat,pirsf_NatA_aux_su,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E736K	ENST00000379406.3	37	c.2206	CCDS9379.1	13	.	.	.	.	.	.	.	.	.	.	G	34	5.333497	0.95758	.	.	ENSG00000172766	ENST00000379406	T	0.50001	0.76	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.58609	0.2134	M	0.75777	2.31	0.80722	D	1	P	0.47841	0.901	P	0.48304	0.573	T	0.54132	-0.8339	10	0.21540	T	0.41	-19.6052	19.9584	0.97232	0.0:0.0:1.0:0.0	.	736	Q6N069	NAA16_HUMAN	K	736	ENSP00000368716:E736K	ENSP00000368716:E736K	E	+	1	0	NAA16	40845823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.890000	0.87313	2.717000	0.92951	0.655000	0.94253	GAA	NAA16	-	pirsf_NatA_aux_su		0.313	NAA16-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA16	HGNC	protein_coding	OTTHUMT00000044672.2	G	NM_018527		41947823	+1	no_errors	ENST00000379406	ensembl	human	known	70_37	missense	SNP	1.000	A
NAA25	80018	genome.wustl.edu	37	12	112492280	112492280	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:112492280G>A	ENST00000261745.4	-	14	1788	c.1540C>T	c.(1540-1542)Cga>Tga	p.R514*		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	514						cytoplasm (GO:0005737)		p.R514*(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CAGTAGATTCGAACAAGCAGC	0.478																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											132.0	110.0	117.0					12																	112492280		2203	4300	6503	SO:0001587	stop_gained	80018			AB054990	CCDS9159.1	12q24.13	2013-10-11	2010-01-14	2010-01-14		ENSG00000111300		"""N(alpha)-acetyltransferase subunits"""	25783	protein-coding gene	gene with protein product		612755	"""chromosome 12 open reading frame 30"""	C12orf30		19660095	Standard	NM_024953		Approved	FLJ13089	uc001ttm.3	Q14CX7	OTTHUMG00000169638	ENST00000261745.4:c.1540C>T	12.37:g.112492280G>A	ENSP00000261745:p.Arg514*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLU7|Q6MZH1|Q7Z4N6|Q9H911	Nonsense_Mutation	SNP	pfam_N-acetylTrfase_B_cplx_non-cat,pfscan_TPR-contain_dom	p.R514*	ENST00000261745.4	37	c.1540	CCDS9159.1	12	.	.	.	.	.	.	.	.	.	.	G	40	8.063590	0.98635	.	.	ENSG00000111300	ENST00000261745	.	.	.	5.5	4.59	0.56863	.	0.074422	0.56097	D	0.000031	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-6.4957	15.4288	0.75075	0.0:0.0:0.8598:0.1401	.	.	.	.	X	514	.	ENSP00000261745:R514X	R	-	1	2	NAA25	110976663	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.318000	0.96334	1.273000	0.44346	0.655000	0.94253	CGA	NAA25	-	pfam_N-acetylTrfase_B_cplx_non-cat		0.478	NAA25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAA25	HGNC	protein_coding	OTTHUMT00000405205.1	G	NM_024953		112492280	-1	no_errors	ENST00000261745	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NAAA	27163	genome.wustl.edu	37	4	76842147	76842147	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:76842147C>G	ENST00000286733.4	-	6	897	c.796G>C	c.(796-798)Gat>Cat	p.D266H	NAAA_ENST00000507956.1_Missense_Mutation_p.D266H|NAAA_ENST00000505594.1_Missense_Mutation_p.D165H|NAAA_ENST00000511606.1_5'UTR|NAAA_ENST00000399497.3_Missense_Mutation_p.D266H	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	266					lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds (GO:0016810)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						GCTGGGCCATCTCTGTTCCTC	0.463																																																	0													76.0	75.0	76.0					4																	76842147		1920	4124	6044	SO:0001583	missense	27163			M92449	CCDS43239.1	4q21.1	2011-09-23	2008-04-24	2008-04-24	ENSG00000138744	ENSG00000138744	3.5.1.-		736	protein-coding gene	gene with protein product		607469	"""N-acylsphingosine amidohydrolase (acid ceramidase)-like"""	ASAHL		10610717, 1446826	Standard	NM_001042402		Approved		uc003hjb.3	Q02083	OTTHUMG00000160855	ENST00000286733.4:c.796G>C	4.37:g.76842147C>G	ENSP00000286733:p.Asp266His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5KTF2|Q96EY2|Q9BRA8	Missense_Mutation	SNP	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like	p.D266H	ENST00000286733.4	37	c.796	CCDS43239.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.03|12.03	1.816189|1.816189	0.32145|0.32145	.|.	.|.	ENSG00000138744|ENSG00000138744	ENST00000399497;ENST00000286733;ENST00000507956;ENST00000505594|ENST00000513045	T;T;T;T|D	0.78816|0.87571	-1.21;-1.21;-1.21;-1.21|-2.27	5.77|5.77	0.342|0.342	0.15996|0.15996	.|.	1.011640|.	0.07894|.	N|.	0.971645|.	T|T	0.77948|0.77948	0.4207|0.4207	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999997|0.999997	B;P|.	0.44877|.	0.036;0.845|.	B;P|.	0.48704|.	0.08;0.587|.	T|T	0.66122|0.66122	-0.6002|-0.6002	10|7	0.45353|0.46703	T|T	0.12|0.11	1.3532|1.3532	5.3445|5.3445	0.16002|0.16002	0.0:0.4724:0.262:0.2655|0.0:0.4724:0.262:0.2655	.|.	165;266|.	B4DVL2;Q02083|.	.;NAAA_HUMAN|.	H|T	266;266;266;165|70	ENSP00000382420:D266H;ENSP00000286733:D266H;ENSP00000427641:D266H;ENSP00000426977:D165H|ENSP00000423397:R70T	ENSP00000286733:D266H|ENSP00000423397:R70T	D|R	-|-	1|2	0|0	NAAA|NAAA	77061171|77061171	0.000000|0.000000	0.05858|0.05858	0.063000|0.063000	0.19743|0.19743	0.565000|0.565000	0.35776|0.35776	-0.395000|-0.395000	0.07287|0.07287	-0.274000|-0.274000	0.09232|0.09232	0.561000|0.561000	0.74099|0.74099	GAT|AGA	NAAA	-	pfam_Chologlycine_hydro,pirsf_Acid_ceramidase-like		0.463	NAAA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NAAA	HGNC	protein_coding	OTTHUMT00000362843.4	C			76842147	-1	no_errors	ENST00000286733	ensembl	human	known	70_37	missense	SNP	0.050	G
NAIF1	203245	genome.wustl.edu	37	9	130829080	130829080	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:130829080C>A	ENST00000373078.4	-	1	520	c.301G>T	c.(301-303)Gag>Tag	p.E101*	SLC25A25_ENST00000373068.2_5'Flank|NAIF1_ENST00000488519.1_5'Flank|SLC25A25_ENST00000373069.5_5'Flank	NM_197956.3	NP_931045.1	Q69YI7	NAIF1_HUMAN	nuclear apoptosis inducing factor 1	101	Gly-rich.				negative regulation of cell growth (GO:0030308)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCTCCGTCCTCCTCAGTGGGC	0.677																																																	0													34.0	36.0	35.0					9																	130829080		2200	4298	6498	SO:0001587	stop_gained	203245			AK122729	CCDS6889.1	9q34.11	2008-04-10	2008-04-10	2008-04-10	ENSG00000171169	ENSG00000171169			25446	protein-coding gene	gene with protein product	"""nuclear apoptosis-inducing factor 1"""	610673	"""chromosome 9 open reading frame 90"""	C9orf90		14702039, 16378748	Standard	NM_197956		Approved	DKFZp762G199, bA379C10.2	uc004bta.3	Q69YI7	OTTHUMG00000020727	ENST00000373078.4:c.301G>T	9.37:g.130829080C>A	ENSP00000362170:p.Glu101*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV81|Q8WU12	Nonsense_Mutation	SNP	NULL	p.E101*	ENST00000373078.4	37	c.301	CCDS6889.1	9	.	.	.	.	.	.	.	.	.	.	C	38	6.870646	0.97901	.	.	ENSG00000171169	ENST00000373078	.	.	.	5.53	4.62	0.57501	.	0.339143	0.28317	N	0.015791	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-13.2557	7.0733	0.25191	0.0:0.8325:0.0:0.1675	.	.	.	.	X	101	.	ENSP00000362170:E101X	E	-	1	0	NAIF1	129868901	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	3.296000	0.51802	2.607000	0.88179	0.655000	0.94253	GAG	NAIF1	-	NULL		0.677	NAIF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAIF1	HGNC	protein_coding	OTTHUMT00000054330.1	C	NM_197956		130829080	-1	no_errors	ENST00000373078	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NALCN	259232	genome.wustl.edu	37	13	101735534	101735534	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:101735534C>T	ENST00000251127.6	-	32	3680	c.3599G>A	c.(3598-3600)aGa>aAa	p.R1200K		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1200					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CATTTTAGCTCTAAAACCATC	0.388																																																	0													110.0	108.0	109.0					13																	101735534		2203	4300	6503	SO:0001583	missense	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3599G>A	13.37:g.101735534C>T	ENSP00000251127:p.Arg1200Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R1200K	ENST00000251127.6	37	c.3599	CCDS9498.1	13	.	.	.	.	.	.	.	.	.	.	C	27.8	4.862880	0.91511	.	.	ENSG00000102452	ENST00000251127	D	0.98381	-4.9	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	D	0.98137	0.9385	M	0.75777	2.31	0.80722	D	1	P	0.47545	0.897	P	0.47941	0.562	D	0.98971	1.0801	10	0.66056	D	0.02	.	19.7628	0.96329	0.0:1.0:0.0:0.0	.	1200	Q8IZF0	NALCN_HUMAN	K	1200	ENSP00000251127:R1200K	ENSP00000251127:R1200K	R	-	2	0	NALCN	100533535	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.487000	0.81328	2.672000	0.90937	0.555000	0.69702	AGA	NALCN	-	NULL		0.388	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	C	NM_052867		101735534	-1	no_errors	ENST00000251127	ensembl	human	known	70_37	missense	SNP	1.000	T
NANP	140838	genome.wustl.edu	37	20	25596592	25596592	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:25596592C>G	ENST00000304788.3	-	2	942	c.716G>C	c.(715-717)aGt>aCt	p.S239T		NM_152667.2	NP_689880.1	Q8TBE9	NANP_HUMAN	N-acetylneuraminic acid phosphatase	239					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|N-acetylglucosamine biosynthetic process (GO:0006045)|N-acetylneuraminate biosynthetic process (GO:0046380)		N-acylneuraminate-9-phosphatase activity (GO:0050124)			endometrium(2)|lung(2)|prostate(1)	5						GCAGTCTATACTTTGTAAGAG	0.383																																																	0													87.0	81.0	83.0					20																	25596592		2203	4300	6503	SO:0001583	missense	140838			AL031673	CCDS13173.1	20p11.1	2006-10-24	2006-01-24	2006-01-24	ENSG00000170191	ENSG00000170191			16140	protein-coding gene	gene with protein product		610763	"""chromosome 20 open reading frame 147"", ""haloacid dehalogenase-like hydrolase domain containing 4"""	C20orf147, HDHD4		16237198	Standard	NM_152667		Approved	dJ694B14.3, MGC26833	uc002wuy.3	Q8TBE9	OTTHUMG00000032132	ENST00000304788.3:c.716G>C	20.37:g.25596592C>G	ENSP00000302441:p.Ser239Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KP12|Q5JYN8|Q8TE97|Q9Y3N0	Missense_Mutation	SNP	pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,prints_Haloacid_DH/epoxide_hydro,tigrfam_HAD-SF_hydro_IA_CTE7,tigrfam_HAD-SF_hydro_IA_v1	p.S239T	ENST00000304788.3	37	c.716	CCDS13173.1	20	.	.	.	.	.	.	.	.	.	.	C	9.394	1.076176	0.20227	.	.	ENSG00000170191	ENST00000304788	T	0.42900	0.96	5.34	0.732	0.18283	HAD-like domain (2);	0.462128	0.27240	N	0.020269	T	0.22975	0.0555	N	0.24115	0.695	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13335	-1.0513	10	0.25751	T	0.34	-5.9907	6.5294	0.22318	0.0:0.4241:0.0:0.5759	.	239	Q8TBE9	NANP_HUMAN	T	239	ENSP00000302441:S239T	ENSP00000302441:S239T	S	-	2	0	NANP	25544592	0.696000	0.27757	0.024000	0.17045	0.936000	0.57629	0.895000	0.28363	0.263000	0.21812	0.485000	0.47835	AGT	NANP	-	superfamily_HAD-like_dom		0.383	NANP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NANP	HGNC	protein_coding	OTTHUMT00000078457.2	C	NM_152667		25596592	-1	no_errors	ENST00000304788	ensembl	human	known	70_37	missense	SNP	0.040	G
NAP1L3	4675	genome.wustl.edu	37	X	92927910	92927910	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:92927910G>C	ENST00000373079.3	-	1	657	c.394C>G	c.(394-396)Ctt>Gtt	p.L132V	FAM133A_ENST00000322139.4_5'Flank|NAP1L3_ENST00000475430.2_Missense_Mutation_p.L125V|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank|FAM133A_ENST00000355813.5_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	132					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TTTCTTTCAAGATCATGAATT	0.398																																																	0													44.0	39.0	41.0					X																	92927910		2203	4300	6503	SO:0001583	missense	4675				CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.394C>G	X.37:g.92927910G>C	ENSP00000362171:p.Leu132Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCM0|O60788	Missense_Mutation	SNP	pfam_NAP_family	p.L132V	ENST00000373079.3	37	c.394	CCDS14465.1	X	.	.	.	.	.	.	.	.	.	.	G	14.98	2.696957	0.48202	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.34472	1.36	3.89	3.89	0.44902	.	0.000000	0.85682	D	0.000000	T	0.54303	0.1850	M	0.76170	2.325	0.26766	N	0.969896	D	0.76494	0.999	D	0.87578	0.998	T	0.47114	-0.9142	10	0.87932	D	0	-14.8972	6.6314	0.22859	0.1273:0.0:0.8727:0.0	.	132	Q99457	NP1L3_HUMAN	V	132;125	ENSP00000362171:L132V	ENSP00000362171:L132V	L	-	1	0	NAP1L3	92814566	0.998000	0.40836	1.000000	0.80357	0.978000	0.69477	1.391000	0.34475	2.225000	0.72522	0.529000	0.55759	CTT	NAP1L3	-	pfam_NAP_family		0.398	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAP1L3	HGNC	protein_coding	OTTHUMT00000057449.1	G	NM_004538		92927910	-1	no_errors	ENST00000373079	ensembl	human	known	70_37	missense	SNP	0.999	C
MROH6	642475	genome.wustl.edu	37	8	144657091	144657091	+	5'Flank	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:144657091G>C	ENST00000398882.3	-	0	0				NAPRT1_ENST00000449291.2_Intron|NAPRT1_ENST00000460623.1_5'UTR|NAPRT1_ENST00000276844.7_Missense_Mutation_p.P540A|NAPRT1_ENST00000435154.3_3'UTR|RP11-661A12.9_ENST00000531730.1_RNA|NAPRT1_ENST00000426292.3_Intron	NM_001100878.1	NP_001094348.1	A6NGR9	MROH6_HUMAN	maestro heat-like repeat family member 6																		CAGAGGACAGGAGCGGTGGGC	0.701																																																	0													23.0	26.0	25.0					8																	144657091		691	1591	2282	SO:0001631	upstream_gene_variant	93100			AF289596	CCDS47928.1	8q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000204839	ENSG00000204839		"""maestro heat-like repeat containing"""	27814	protein-coding gene	gene with protein product			"""chromosome 8 open reading frame 73"""	C8orf73		12477932	Standard	NM_001100878		Approved		uc010mff.3	A6NGR9	OTTHUMG00000165164		8.37:g.144657091G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWB1	Missense_Mutation	SNP	pfam_Nic_PRibTrfase-like,superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel,tigrfam_Nic_PRibTrfase_put	p.P540A	ENST00000398882.3	37	c.1618	CCDS47928.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	7.210|7.210	0.595168|0.595168	0.13875|0.13875	.|.	.|.	ENSG00000147813|ENSG00000147813	ENST00000276844|ENST00000340490	T|T	0.43294|0.49432	0.95|0.78	5.07|5.07	-0.0938|-0.0938	0.13647|0.13647	.|.	2.836030|.	0.01509|.	N|.	0.017831|.	T|T	0.42223|0.42223	0.1193|0.1193	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|P	.|0.41569	.|0.755	.|B	.|0.43331	.|0.416	T|T	0.33163|0.33163	-0.9879|-0.9879	7|8	0.72032|0.66056	D|D	0.01|0.02	-0.0814|-0.0814	8.0918|8.0918	0.30805|0.30805	0.4462:0.0:0.5538:0.0|0.4462:0.0:0.5538:0.0	.|.	.|540	.|G5E977	.|.	A|C	540|540	ENSP00000276844:P540A|ENSP00000341136:S540C	ENSP00000276844:P540A|ENSP00000341136:S540C	P|S	-|-	1|2	0|0	NAPRT1|NAPRT1	144728234|144728234	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-3.561000|-3.561000	0.00430|0.00430	-0.013000|-0.013000	0.14199|0.14199	-0.140000|-0.140000	0.14226|0.14226	CCT|TCC	NAPRT1	-	superfamily_Quinolinate_PRibosylTrfase_C,pirsf_Nic_PRibTrfase-rel		0.701	MROH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAPRT1	HGNC	protein_coding	OTTHUMT00000382330.3	G	NM_001100878		144657091	-1	no_errors	ENST00000276844	ensembl	human	known	70_37	missense	SNP	0.000	C
NAT8	9027	genome.wustl.edu	37	2	73868743	73868743	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:73868743G>C	ENST00000272425.3	-	2	162	c.13C>G	c.(13-15)Cac>Gac	p.H5D		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2			N-acetyltransferase 8 (GCN5-related, putative)											breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						TTGCGGATGTGACAAGGAGCC	0.582																																																	0													49.0	56.0	54.0					2																	73868743		2184	4289	6473	SO:0001583	missense	9027			AB013094	CCDS1926.1	2p13.2	2012-03-20	2008-09-24		ENSG00000144035	ENSG00000144035			18069	protein-coding gene	gene with protein product		606716	"""N-acetyltransferase 8"""			11397015, 9852678, 19011241	Standard	NM_003960		Approved	Hcml1, TSC501, GLA, ATase2	uc002sji.1	Q9UHE5	OTTHUMG00000129818	ENST00000272425.3:c.13C>G	2.37:g.73868743G>C	ENSP00000272425:p.His5Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GNAT_dom,pfam_FR47,superfamily_Acyl_CoA_acyltransferase,pfscan_GNAT_dom	p.H5D	ENST00000272425.3	37	c.13	CCDS1926.1	2	.	.	.	.	.	.	.	.	.	.	G	11.21	1.570876	0.28003	.	.	ENSG00000144035	ENST00000272425	T	0.30182	1.54	3.86	1.96	0.26148	Acyl-CoA N-acyltransferase (1);	0.413197	0.26359	N	0.024828	T	0.38054	0.1026	M	0.67397	2.05	0.21878	N	0.999492	D	0.58268	0.982	P	0.54664	0.758	T	0.15607	-1.0431	10	0.45353	T	0.12	-12.2934	4.459	0.11657	0.216:0.1889:0.5951:0.0	.	5	Q9UHE5	NAT8_HUMAN	D	5	ENSP00000272425:H5D	ENSP00000272425:H5D	H	-	1	0	NAT8	73722251	0.975000	0.34042	0.821000	0.32701	0.031000	0.12232	2.498000	0.45363	0.355000	0.24131	-0.151000	0.13558	CAC	NAT8	-	NULL		0.582	NAT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NAT8	HGNC	protein_coding	OTTHUMT00000327854.1	G	NM_003960		73868743	-1	no_errors	ENST00000272425	ensembl	human	known	70_37	missense	SNP	0.538	C
NAV2	89797	genome.wustl.edu	37	11	19970352	19970352	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:19970352C>T	ENST00000396087.3	+	11	2539	c.2440C>T	c.(2440-2442)Cgg>Tgg	p.R814W	NAV2_ENST00000360655.4_Missense_Mutation_p.R727W|NAV2_ENST00000396085.1_Missense_Mutation_p.R791W|NAV2_ENST00000349880.4_Missense_Mutation_p.R791W|NAV2_ENST00000540292.1_Missense_Mutation_p.R745W|NAV2_ENST00000527559.2_Missense_Mutation_p.R743W	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	814					glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)	p.R814W(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GTCCAGCCCTCGGCTCCAAGC	0.592																																																	1	Substitution - Missense(1)	urinary_tract(1)											63.0	55.0	57.0					11																	19970352		2199	4293	6492	SO:0001583	missense	89797			AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.2440C>T	11.37:g.19970352C>T	ENSP00000379396:p.Arg814Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R814W	ENST00000396087.3	37	c.2440	CCDS58126.1	11	.	.	.	.	.	.	.	.	.	.	C	32	5.134079	0.94517	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.15603	2.41;2.41;2.41;2.41;2.41;2.41	5.1	5.1	0.69264	.	0.000000	0.56097	D	0.000030	T	0.43389	0.1245	M	0.71206	2.165	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.21314	-1.0249	9	.	.	.	.	18.8846	0.92370	0.0:1.0:0.0:0.0	.	791;727	Q8IVL1-3;Q8IVL1-4	.;.	W	727;791;791;814;743;745	ENSP00000353871:R727W;ENSP00000379394:R791W;ENSP00000309577:R791W;ENSP00000379396:R814W;ENSP00000435395:R743W;ENSP00000443489:R745W	.	R	+	1	2	NAV2	19926928	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	7.740000	0.84986	2.530000	0.85305	0.563000	0.77884	CGG	NAV2	-	NULL		0.592	NAV2-001	KNOWN	basic|CCDS	protein_coding	NAV2	HGNC	protein_coding	OTTHUMT00000324112.1	C	NM_145117		19970352	+1	no_errors	ENST00000396087	ensembl	human	known	70_37	missense	SNP	1.000	T
NBPF10	100132406	genome.wustl.edu	37	1	145304593	145304593	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:145304593C>G	ENST00000369339.3	+	7	966	c.713C>G	c.(712-714)tCa>tGa	p.S238*	NBPF10_ENST00000369338.1_Nonsense_Mutation_p.S238*|RP11-458D21.5_ENST00000468030.1_3'UTR|NBPF10_ENST00000342960.5_Nonsense_Mutation_p.S509*			Q6P3W6	NBPFA_HUMAN	neuroblastoma breakpoint family, member 10	509	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(1)|central_nervous_system(3)|endometrium(12)|kidney(23)|lung(15)|ovary(1)|prostate(7)|skin(6)|urinary_tract(2)	73	all_hematologic(923;0.032)			Colorectal(1306;1.36e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		AAAGTCGACTCAACTCTCATT	0.443																																																	0																																										SO:0001587	stop_gained	100132406			BC021111		1q21.1	2013-01-17			ENSG00000163386	ENSG00000271425		"""neuroblastoma breakpoint family"""	31992	protein-coding gene	gene with protein product		614000				16079250	Standard	NM_001039703		Approved	AG1		Q6P3W6	OTTHUMG00000013757	ENST00000369339.3:c.713C>G	1.37:g.145304593C>G	ENSP00000358345:p.Ser238*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5RHC0|Q9NWN6	Nonsense_Mutation	SNP	pfam_NBPF_dom	p.S509*	ENST00000369339.3	37	c.1526		1	.	.	.	.	.	.	.	.	.	.	.	37	6.423342	0.97555	.	.	ENSG00000163386	ENST00000448873;ENST00000369338;ENST00000369334;ENST00000342960	.	.	.	0.745	-0.372	0.12520	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22706	T	0.39	.	3.3127	0.07022	0.0:0.6682:0.0:0.3318	.	.	.	.	X	434;238;238;509	.	ENSP00000345684:S509X	S	+	2	0	NBPF10	144015950	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.511000	0.06321	-0.142000	0.11354	0.162000	0.16502	TCA	NBPF10	-	pfam_NBPF_dom		0.443	NBPF10-001	KNOWN	not_best_in_genome_evidence|basic	protein_coding	NBPF10	HGNC	protein_coding	OTTHUMT00000038550.3	C	NM_001039703		145304593	+1	no_errors	ENST00000342960	ensembl	human	known	70_37	nonsense	SNP	0.000	G
NCKAP5L	57701	genome.wustl.edu	37	12	50195664	50195664	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:50195664C>T	ENST00000335999.6	-	6	519	c.318G>A	c.(316-318)caG>caA	p.Q106Q		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	102										central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGGAGTTTCTGCTGAAACA	0.607																																																	0													137.0	156.0	150.0					12																	50195664		2161	4259	6420	SO:0001819	synonymous_variant	57701			AB046822	CCDS41781.2	12q13.12	2009-08-14	2009-08-14	2009-08-14	ENSG00000167566	ENSG00000167566			29321	protein-coding gene	gene with protein product		615104	"""KIAA1602"""	KIAA1602			Standard	NM_001037806		Approved		uc009zlk.2	Q9HCH0	OTTHUMG00000156969	ENST00000335999.6:c.318G>A	12.37:g.50195664C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB26|Q71RH1|Q8N4W1|Q96HX2	Silent	SNP	NULL	p.Q106	ENST00000335999.6	37	c.318	CCDS41781.2	12																																																																																			NCKAP5L	-	NULL		0.607	NCKAP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP5L	HGNC	protein_coding	OTTHUMT00000346884.2	C	XM_035497		50195664	-1	no_errors	ENST00000335999	ensembl	human	known	70_37	silent	SNP	1.000	T
NCKAP1L	3071	genome.wustl.edu	37	12	54929976	54929976	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:54929976C>T	ENST00000293373.6	+	28	3099	c.3020C>T	c.(3019-3021)tCc>tTc	p.S1007F	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.S957F	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	1007					actin polymerization-dependent cell motility (GO:0070358)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|chemotaxis (GO:0006935)|cortical actin cytoskeleton organization (GO:0030866)|erythrocyte development (GO:0048821)|maintenance of cell polarity (GO:0030011)|myeloid cell homeostasis (GO:0002262)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-17 production (GO:0032700)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of myosin-light-chain-phosphatase activity (GO:0035509)|neutrophil chemotaxis (GO:0030593)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of CD8-positive, alpha-beta T cell differentiation (GO:0043378)|positive regulation of cell adhesion mediated by integrin (GO:0033630)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of lymphocyte differentiation (GO:0045621)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phagocytosis, engulfment (GO:0060100)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of T cell proliferation (GO:0042102)|protein complex assembly (GO:0006461)|response to drug (GO:0042493)|T cell homeostasis (GO:0043029)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|SCAR complex (GO:0031209)	protein complex binding (GO:0032403)|protein kinase activator activity (GO:0030295)|Rac GTPase activator activity (GO:0030675)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTGGCAGTTTCCCTCCCACTC	0.453																																																	0													178.0	143.0	155.0					12																	54929976		2203	4300	6503	SO:0001583	missense	3071			AI924363	CCDS31813.1, CCDS53799.1	12q13.1	2005-10-11	2005-10-11	2005-10-11		ENSG00000123338			4862	protein-coding gene	gene with protein product		141180	"""hematopoietic protein 1"""	HEM1		1932118	Standard	NM_005337		Approved		uc001sgc.4	P55160	OTTHUMG00000169843	ENST00000293373.6:c.3020C>T	12.37:g.54929976C>T	ENSP00000293373:p.Ser1007Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DUT5|Q52LW0	Missense_Mutation	SNP	pfam_Nck-associated_protein-1,superfamily_Nucl_hormone_rcpt_ligand-bd	p.S1007F	ENST00000293373.6	37	c.3020	CCDS31813.1	12	.	.	.	.	.	.	.	.	.	.	C	16.17	3.046848	0.55110	.	.	ENSG00000123338	ENST00000293373;ENST00000545638	T;T	0.38560	1.13;1.13	4.31	4.31	0.51392	.	0.130056	0.53938	D	0.000058	T	0.64659	0.2618	M	0.78456	2.415	0.58432	D	0.999996	P	0.43519	0.809	D	0.64321	0.924	T	0.68823	-0.5307	10	0.87932	D	0	-2.9181	14.6721	0.68951	0.0:1.0:0.0:0.0	.	1007	P55160	NCKPL_HUMAN	F	1007;957	ENSP00000293373:S1007F;ENSP00000445596:S957F	ENSP00000293373:S1007F	S	+	2	0	NCKAP1L	53216243	1.000000	0.71417	1.000000	0.80357	0.229000	0.25112	5.261000	0.65496	2.407000	0.81776	0.655000	0.94253	TCC	NCKAP1L	-	pfam_Nck-associated_protein-1		0.453	NCKAP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCKAP1L	HGNC	protein_coding	OTTHUMT00000406195.1	C	NM_005337		54929976	+1	no_errors	ENST00000293373	ensembl	human	known	70_37	missense	SNP	1.000	T
NCR3LG1	374383	genome.wustl.edu	37	11	17388562	17388562	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:17388562C>T	ENST00000338965.4	+	3	672	c.428C>T	c.(427-429)cCa>cTa	p.P143L		NM_001202439.1	NP_001189368.1	Q68D85	NR3L1_HUMAN	natural killer cell cytotoxicity receptor 3 ligand 1	143	Ig-like C1-type.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|viral capsid (GO:0019028)	structural molecule activity (GO:0005198)										ACAGCTTCCCCAGCCAGCAGA	0.458																																																	0																																										SO:0001583	missense	374383				CCDS55748.1	11p15.1	2014-01-30			ENSG00000188211	ENSG00000188211		"""Immunoglobulin superfamily / C1-set domain containing"", ""Endogenous ligands"""	42400	protein-coding gene	gene with protein product	"""B7 homolog 6"""	613714				19528259	Standard	XR_242803		Approved	DKFZp686O24166, B7-H6	uc001mmz.4	Q68D85	OTTHUMG00000165913	ENST00000338965.4:c.428C>T	11.37:g.17388562C>T	ENSP00000341637:p.Pro143Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3M6	Missense_Mutation	SNP	pfam_Ig_C1-set,pfam_G_retro_matrix_N,pfam_CD80_C2-set,superfamily_Retrovr_matrix_N,smart_Ig_sub,smart_Ig_C1-set,pfscan_Ig-like	p.P143L	ENST00000338965.4	37	c.428	CCDS55748.1	11	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237841	0.39598	.	.	ENSG00000188211	ENST00000338965	T	0.01335	5.0	3.95	3.95	0.45737	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.04770	0.0129	L	0.34521	1.04	0.25717	N	0.98542	D	0.89917	1.0	D	0.91635	0.999	T	0.42137	-0.9469	9	0.62326	D	0.03	-7.5833	13.897	0.63778	0.0:1.0:0.0:0.0	.	143	Q68D85	B7H6_HUMAN	L	143	ENSP00000341637:P143L	ENSP00000341637:P143L	P	+	2	0	RP1-239B22.1	17345138	0.108000	0.22018	0.046000	0.18839	0.002000	0.02628	2.187000	0.42602	2.207000	0.71202	0.591000	0.81541	CCA	NCR3LG1	-	pfscan_Ig-like		0.458	NCR3LG1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	NCR3LG1	HGNC	protein_coding	OTTHUMT00000387035.2	C	NM_001202439		17388562	+1	no_errors	ENST00000530403	ensembl	human	known	70_37	missense	SNP	0.248	T
NDNF	79625	genome.wustl.edu	37	4	121966894	121966894	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:121966894C>G	ENST00000379692.4	-	2	625	c.99G>C	c.(97-99)caG>caC	p.Q33H		NM_024574.3	NP_078850.3	Q8TB73	NDNF_HUMAN	neuron-derived neurotrophic factor	33					cell growth (GO:0016049)|extracellular matrix organization (GO:0030198)|negative regulation of neuron apoptotic process (GO:0043524)|neuron migration (GO:0001764)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of neuron projection development (GO:0010976)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(3)|skin(1)|urinary_tract(1)	29						TGTCCCGGATCTGCATCTGAA	0.483																																																	0													64.0	65.0	65.0					4																	121966894		1895	4117	6012	SO:0001583	missense	79625			BC019351	CCDS3717.2	4q27	2011-07-05	2011-07-05	2011-07-05	ENSG00000173376	ENSG00000173376			26256	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 31"""	C4orf31		12975309, 20969804	Standard	NM_024574		Approved	FLJ23191	uc003idq.1	Q8TB73	OTTHUMG00000132973	ENST00000379692.4:c.99G>C	4.37:g.121966894C>G	ENSP00000369014:p.Gln33His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Q0|Q6UWE5|Q9H5P7	Missense_Mutation	SNP	pfam_DUF2369,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.Q33H	ENST00000379692.4	37	c.99	CCDS3717.2	4	.	.	.	.	.	.	.	.	.	.	C	19.00	3.742843	0.69418	.	.	ENSG00000173376	ENST00000379692;ENST00000515757;ENST00000511408	.	.	.	5.72	3.03	0.35002	.	0.000000	0.85682	D	0.000000	T	0.69486	0.3116	M	0.62723	1.935	0.58432	D	0.999996	D	0.61697	0.99	D	0.72982	0.979	T	0.68150	-0.5485	9	0.66056	D	0.02	-22.7795	9.7913	0.40708	0.0:0.7756:0.0:0.2244	.	33	Q8TB73	NDNF_HUMAN	H	33	.	ENSP00000369014:Q33H	Q	-	3	2	NDNF	122186344	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.591000	0.36665	0.337000	0.23665	0.655000	0.94253	CAG	NDNF	-	NULL		0.483	NDNF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NDNF	HGNC	protein_coding	OTTHUMT00000256532.2	C	NM_024574		121966894	-1	no_errors	ENST00000379692	ensembl	human	known	70_37	missense	SNP	1.000	G
NDUFS2	4720	genome.wustl.edu	37	1	161184059	161184060	+	3'UTR	INS	-	-	TGTG	rs10629771|rs201627152		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:161184059_161184060insTGTG	ENST00000367993.3	+	0	1916_1917				NDUFS2_ENST00000465923.1_3'UTR|FCER1G_ENST00000289902.1_5'Flank|NDUFS2_ENST00000392179.4_3'UTR|FCER1G_ENST00000367992.3_5'Flank	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	AAATTGGCCTCtgtgtgtgtgt	0.455																																																	0																																										SO:0001624	3_prime_UTR_variant	4720			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.*77->TGTG	1.37:g.161184064_161184067dupTGTG		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	RNA	INS	-	NULL	ENST00000367993.3	37	NULL	CCDS1224.1	1																																																																																			NDUFS2	-	-		0.455	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	-	NM_004550		161184060	+1	no_errors	ENST00000465923	ensembl	human	known	70_37	rna	INS	0.811:0.953	TGTG
NEBL	10529	genome.wustl.edu	37	10	21097533	21097533	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:21097533G>A	ENST00000377122.4	-	26	3063	c.2667C>T	c.(2665-2667)ttC>ttT	p.F889F	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	889	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GACCTGTACCGAAAGTACTGC	0.463																																																	0													139.0	130.0	133.0					10																	21097533		2203	4300	6503	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2667C>T	10.37:g.21097533G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.F889	ENST00000377122.4	37	c.2667	CCDS7134.1	10																																																																																			NEBL	-	NULL		0.463	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	G	NM_006393		21097533	-1	no_errors	ENST00000377122	ensembl	human	known	70_37	silent	SNP	0.979	A
NEBL	10529	genome.wustl.edu	37	10	21098823	21098823	+	Silent	SNP	G	G	A	rs138206930		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:21098823G>A	ENST00000377122.4	-	25	2919	c.2523C>T	c.(2521-2523)ctC>ctT	p.L841L	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	841	Linker.				cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GCCAAACTTTGAGGTCTTTTG	0.393																																																	0													81.0	81.0	81.0					10																	21098823		2203	4300	6503	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.2523C>T	10.37:g.21098823G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.L841	ENST00000377122.4	37	c.2523	CCDS7134.1	10																																																																																			NEBL	-	NULL		0.393	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	G	NM_006393		21098823	-1	no_errors	ENST00000377122	ensembl	human	known	70_37	silent	SNP	0.993	A
NEDD4L	23327	genome.wustl.edu	37	18	56024425	56024425	+	Splice_Site	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:56024425G>A	ENST00000400345.3	+	19	1991		c.e19-1		NEDD4L_ENST00000382850.4_Splice_Site|NEDD4L_ENST00000586263.1_Splice_Site|NEDD4L_ENST00000256832.7_Splice_Site|NEDD4L_ENST00000357895.5_Splice_Site|NEDD4L_ENST00000456173.2_Splice_Site|NEDD4L_ENST00000256830.9_Splice_Site|NEDD4L_ENST00000356462.6_Splice_Site|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000456986.1_Splice_Site|NEDD4L_ENST00000431212.2_Splice_Site|NEDD4L_ENST00000435432.2_Splice_Site	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase						cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						aaCATTTTCAGATAGCAAAAT	0.323																																																	0													47.0	45.0	46.0					18																	56024425		1812	4073	5885	SO:0001630	splice_region_variant	23327			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.1709-1G>A	18.37:g.56024425G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Splice_Site	SNP	-	e19-1	ENST00000400345.3	37	c.1709-1	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	G	24.6	4.554332	0.86231	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	.	.	.	5.04	5.04	0.67666	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7403	0.91770	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NEDD4L	54175405	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.541000	0.98083	2.495000	0.84180	0.591000	0.81541	.	NEDD4L	-	-		0.323	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	G		Intron	56024425	+1	no_errors	ENST00000400345	ensembl	human	known	70_37	splice_site	SNP	1.000	A
NEFH	4744	genome.wustl.edu	37	22	29879471	29879471	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:29879471G>A	ENST00000310624.6	+	2	1024	c.991G>A	c.(991-993)Gag>Aag	p.E331K		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	331	Coil 2B.|Rod.				axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						CAGGACCACAGAGCTGGAGGC	0.617																																																	0													112.0	94.0	100.0					22																	29879471		2203	4300	6503	SO:0001583	missense	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.991G>A	22.37:g.29879471G>A	ENSP00000311997:p.Glu331Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	Missense_Mutation	SNP	pfam_F,pfam_DUF1388	p.E331K	ENST00000310624.6	37	c.991	CCDS13858.1	22	.	.	.	.	.	.	.	.	.	.	G	20.5	3.996338	0.74818	.	.	ENSG00000100285	ENST00000328842;ENST00000310624	D	0.91843	-2.92	5.3	5.3	0.74995	Filament (1);	0.000000	0.49305	D	0.000144	D	0.96093	0.8727	M	0.86097	2.795	0.53688	D	0.999978	D	0.89917	1.0	D	0.72075	0.976	D	0.96285	0.9209	10	0.87932	D	0	.	14.7229	0.69320	0.0:0.1444:0.8556:0.0	.	331	P12036	NFH_HUMAN	K	331	ENSP00000311997:E331K	ENSP00000311997:E331K	E	+	1	0	NEFH	28209471	1.000000	0.71417	1.000000	0.80357	0.702000	0.40608	7.681000	0.84073	2.761000	0.94854	0.650000	0.86243	GAG	NEFH	-	pfam_F		0.617	NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEFH	HGNC	protein_coding	OTTHUMT00000321553.2	G	NM_021076		29879471	+1	no_errors	ENST00000310624	ensembl	human	known	70_37	missense	SNP	1.000	A
NEK3	4752	genome.wustl.edu	37	13	52730376	52730376	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:52730376C>G	ENST00000452082.2	-	1	1244	c.14G>C	c.(13-15)aGa>aCa	p.R5T	NEK3_ENST00000378101.2_5'UTR|NEK3_ENST00000339406.3_5'UTR|NEK3_ENST00000400357.2_5'UTR			P51956	NEK3_HUMAN	NIMA-related kinase 3	0	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		ACCATGGGCTCTCCCAAACTG	0.443																																																	0													40.0	40.0	40.0					13																	52730376		1107	2168	3275	SO:0001583	missense	4752			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000452082.2:c.14G>C	13.37:g.52730376C>G	ENSP00000404197:p.Arg5Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R5T	ENST00000452082.2	37	c.14		13	.	.	.	.	.	.	.	.	.	.	C	13.17	2.156673	0.38119	.	.	ENSG00000136098	ENST00000452082	T	0.70164	-0.46	5.61	2.89	0.33648	.	.	.	.	.	T	0.50735	0.1633	.	.	.	0.20873	N	0.999838	B	0.15141	0.012	B	0.16289	0.015	T	0.39418	-0.9615	8	0.40728	T	0.16	.	6.067	0.19868	0.1528:0.6915:0.0:0.1556	.	5	Q6ZN64	.	T	5	ENSP00000404197:R5T	ENSP00000404197:R5T	R	-	2	0	NEK3	51628377	0.132000	0.22450	0.003000	0.11579	0.007000	0.05969	1.871000	0.39539	0.813000	0.34350	-0.140000	0.14226	AGA	NEK3	-	NULL		0.443	NEK3-203	KNOWN	basic	protein_coding	NEK3	HGNC	protein_coding		C			52730376	-1	no_errors	ENST00000452082	ensembl	human	known	70_37	missense	SNP	0.005	G
NEK9	91754	genome.wustl.edu	37	14	75573250	75573250	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:75573250G>A	ENST00000238616.5	-	12	1641	c.1483C>T	c.(1483-1485)Ctg>Ttg	p.L495L		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	495					mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic nuclear envelope disassembly (GO:0007077)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TTTCGTGTCAGAACCACCACA	0.493																																																	0													192.0	175.0	181.0					14																	75573250		2203	4300	6503	SO:0001819	synonymous_variant	91754			AY048580	CCDS9839.1	14q24.2	2012-11-15	2012-11-15		ENSG00000119638	ENSG00000119638			18591	protein-coding gene	gene with protein product		609798	"""NIMA (never in mitosis gene a)- related kinase 9"""			11864968	Standard	NM_033116		Approved	Nek8, NERCC, DKFZp434D0935, MGC16714	uc001xrl.3	Q8TD19	OTTHUMG00000171768	ENST00000238616.5:c.1483C>T	14.37:g.75573250G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LK6|Q8NCN0|Q8TCY4|Q9UPI4|Q9Y6S4|Q9Y6S5|Q9Y6S6	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Reg_chr_condens,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Reg_chr_condens,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.L495	ENST00000238616.5	37	c.1483	CCDS9839.1	14																																																																																			NEK9	-	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens		0.493	NEK9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEK9	HGNC	protein_coding	OTTHUMT00000415021.1	G	NM_033116		75573250	-1	no_errors	ENST00000238616	ensembl	human	known	70_37	silent	SNP	0.997	A
NSMF	26012	genome.wustl.edu	37	9	140347293	140347293	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:140347293C>G	ENST00000371475.3	-	10	1279				NSMF_ENST00000392812.4_Intron|NSMF_ENST00000371472.2_Intron|NSMF_ENST00000371474.3_Intron|NSMF_ENST00000371482.1_Silent_p.L6L|NSMF_ENST00000339554.3_Intron|NSMF_ENST00000371473.3_Intron|NSMF_ENST00000484316.1_5'UTR|NSMF_ENST00000437259.1_Intron|NSMF_ENST00000371468.1_Intron|NSMF_ENST00000541195.1_Intron|NSMF_ENST00000265663.7_Intron	NM_001130969.1	NP_001124441.1	Q6X4W1	NSMF_HUMAN	NMDA receptor synaptonuclear signaling and neuronal migration factor						cellular response to amino acid stimulus (GO:0071230)|cellular response to electrical stimulus (GO:0071257)|cellular response to gonadotropin stimulus (GO:0071371)|positive regulation of neuron migration (GO:2001224)|positive regulation of protein dephosphorylation (GO:0035307)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron apoptotic process (GO:0043523)|regulation of neuronal synaptic plasticity (GO:0048168)	apical dendrite (GO:0097440)|cell junction (GO:0030054)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|membrane (GO:0016020)|neuron projection (GO:0043005)|nuclear envelope (GO:0005635)|nuclear euchromatin (GO:0005719)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perikaryon (GO:0043204)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium-dependent protein binding (GO:0048306)										AAGAGCTGCTCAGGGGCCCCA	0.617																																																	0													28.0	29.0	28.0					9																	140347293		2176	4283	6459	SO:0001627	intron_variant	26012				CCDS7044.1, CCDS48067.1, CCDS48068.1, CCDS48069.1, CCDS55357.1	9q34.3	2013-01-14	2013-01-14	2013-01-14	ENSG00000165802	ENSG00000165802			29843	protein-coding gene	gene with protein product		608137	"""nasal embryonic LHRH factor"""	NELF		11230166, 10898796	Standard	NM_015537		Approved		uc004cna.3	Q6X4W1	OTTHUMG00000020989	ENST00000371475.3:c.1048-22G>C	9.37:g.140347293C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB96|Q6X4V7|Q6X4V8|Q6X4V9|Q8N2M2|Q96SY1|Q9NPM4|Q9NPP3|Q9NPS3	Silent	SNP	NULL	p.L6	ENST00000371475.3	37	c.18	CCDS48069.1	9																																																																																			NELF	-	NULL		0.617	NSMF-204	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NELF	HGNC	protein_coding		C	NM_015537		140347293	-1	no_errors	ENST00000371482	ensembl	human	known	70_37	silent	SNP	0.020	G
NETO1	81832	genome.wustl.edu	37	18	70417642	70417642	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:70417642C>G	ENST00000327305.6	-	9	1853	c.1196G>C	c.(1195-1197)aGa>aCa	p.R399T	NETO1_ENST00000299430.2_Missense_Mutation_p.R398T|RNA5SP460_ENST00000516789.1_RNA|NETO1_ENST00000583169.1_Missense_Mutation_p.R399T	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	399					memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCCTGTCCCTCTGAGAGTGCA	0.428																																																	0													81.0	75.0	77.0					18																	70417642		2203	4300	6503	SO:0001583	missense	81832			AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.1196G>C	18.37:g.70417642C>G	ENSP00000313088:p.Arg399Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86W85|Q8ND78|Q8TDF4	Missense_Mutation	SNP	pfam_CUB,pfam_LDrepeatLR_classA_rpt,superfamily_CUB,superfamily_LDrepeatLR_classA_rpt,smart_CUB,smart_LDrepeatLR_classA_rpt,pfscan_CUB,pfscan_LDrepeatLR_classA_rpt	p.R399T	ENST00000327305.6	37	c.1196	CCDS12000.1	18	.	.	.	.	.	.	.	.	.	.	C	26.9	4.777236	0.90195	.	.	ENSG00000166342	ENST00000327305;ENST00000299430	T;T	0.40476	1.03;1.03	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000003	T	0.65533	0.2700	M	0.66939	2.045	0.80722	D	1	D;D	0.76494	0.989;0.999	D;D	0.75020	0.985;0.971	T	0.66360	-0.5943	10	0.87932	D	0	-3.3033	20.055	0.97649	0.0:1.0:0.0:0.0	.	398;399	Q8TDF5-2;Q8TDF5	.;NETO1_HUMAN	T	399;398	ENSP00000313088:R399T;ENSP00000299430:R398T	ENSP00000299430:R398T	R	-	2	0	NETO1	68568622	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.484000	0.81180	2.743000	0.94032	0.455000	0.32223	AGA	NETO1	-	NULL		0.428	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NETO1	HGNC	protein_coding	OTTHUMT00000256301.2	C	NM_138999		70417642	-1	no_errors	ENST00000327305	ensembl	human	known	70_37	missense	SNP	1.000	G
NEURL2	140825	genome.wustl.edu	37	20	44517472	44517472	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:44517472C>T	ENST00000372518.4	-	2	1078	c.783G>A	c.(781-783)agG>agA	p.R261R	CTSA_ENST00000372484.3_5'Flank|CTSA_ENST00000191018.5_5'Flank|SPATA25_ENST00000372519.3_5'Flank|CTSA_ENST00000354880.5_5'Flank|CTSA_ENST00000372459.2_5'Flank	NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	261	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|sarcomere organization (GO:0045214)	muscle tendon junction (GO:0005927)|VCB complex (GO:0030891)				large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				GCACCATGCTCCTTTGTATCA	0.542																																																	0													97.0	81.0	86.0					20																	44517472		2203	4300	6503	SO:0001819	synonymous_variant	140825			AL008726	CCDS13384.1	20q13.12	2013-10-24	2013-10-24	2004-02-27	ENSG00000124257	ENSG00000124257			16156	protein-coding gene	gene with protein product		608597	"""chromosome 20 open reading frame 163"", ""neuralized-like 2 (Drosophila)"", ""neuralized homolog 2 (Drosophila)"""	C20orf163		12076535, 19723503	Standard	NM_001278535		Approved	dJ337O18.6, FLJ30259, Ozz, Ozz-E3	uc002xqg.2	Q9BR09	OTTHUMG00000032626	ENST00000372518.4:c.783G>A	20.37:g.44517472C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KR34	Silent	SNP	pfam_Neu_Z,pfam_SOCS_C,smart_Neu_Z,smart_SOCS_C,pfscan_Neu_Z,pfscan_SOCS_C	p.R261	ENST00000372518.4	37	c.783	CCDS13384.1	20																																																																																			NEURL2	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C		0.542	NEURL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEURL2	HGNC	protein_coding	OTTHUMT00000079539.2	C			44517472	-1	no_errors	ENST00000372518	ensembl	human	known	70_37	silent	SNP	0.988	T
NFX1	4799	genome.wustl.edu	37	9	33347041	33347041	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:33347041C>G	ENST00000379540.3	+	15	2412	c.2350C>G	c.(2350-2352)Cat>Gat	p.H784D	NFX1_ENST00000379521.4_Missense_Mutation_p.H784D|NFX1_ENST00000318524.6_Missense_Mutation_p.H784D	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	784					inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TGCAGTATATCATTCTTGTCA	0.388																																																	0													138.0	129.0	132.0					9																	33347041		2203	4300	6503	SO:0001583	missense	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2350C>G	9.37:g.33347041C>G	ENSP00000368856:p.His784Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	Missense_Mutation	SNP	pfam_Znf_NFX1,pfam_R3H_ss-bd,smart_Znf_RING,smart_Znf_NFX1,smart_R3H_ss-bd,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_R3H_ss-bd	p.H784D	ENST00000379540.3	37	c.2350	CCDS6538.1	9	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735579	0.89482	.	.	ENSG00000086102	ENST00000379540;ENST00000379521;ENST00000536210;ENST00000318524	T;T;T	0.58210	0.35;0.35;0.35	6.06	6.06	0.98353	Zinc finger, NF-X1-type (1);	0.052516	0.85682	D	0.000000	T	0.81545	0.4845	H	0.95437	3.67	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.998;0.999;1.0;1.0	D;D;D;D;D	0.79108	0.992;0.965;0.984;0.992;0.991	D	0.85956	0.1467	10	0.72032	D	0.01	-4.9652	18.1221	0.89574	0.0:1.0:0.0:0.0	.	784;668;784;784;784	F5GXD0;A0JLR2;Q12986;Q12986-2;Q12986-3	.;.;NFX1_HUMAN;.;.	D	784	ENSP00000368856:H784D;ENSP00000368836:H784D;ENSP00000317695:H784D	ENSP00000317695:H784D	H	+	1	0	NFX1	33337041	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	7.680000	0.84062	2.871000	0.98454	0.655000	0.94253	CAT	NFX1	-	smart_Znf_NFX1		0.388	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	C			33347041	+1	no_errors	ENST00000379540	ensembl	human	known	70_37	missense	SNP	1.000	G
NHLRC2	374354	genome.wustl.edu	37	10	115661612	115661612	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:115661612G>C	ENST00000369301.3	+	7	1539	c.1327G>C	c.(1327-1329)Gat>Cat	p.D443H		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	443										breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		TTCACTGAAAGATGGAGCAGT	0.507																																																	0													152.0	152.0	152.0					10																	115661612		2203	4300	6503	SO:0001583	missense	374354			AK090631	CCDS7585.1	10q26.11	2006-03-31			ENSG00000196865	ENSG00000196865			24731	protein-coding gene	gene with protein product						12477932	Standard	NM_198514		Approved	FLJ25621, FLJ20147, FLJ33312, MGC45492, DKFZp779F115	uc001lax.2	Q8NBF2	OTTHUMG00000019078	ENST00000369301.3:c.1327G>C	10.37:g.115661612G>C	ENSP00000358307:p.Asp443His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1H1|Q8N5A6	Missense_Mutation	SNP	pfam_NHL_repeat,superfamily_Thioredoxin-like_fold,pfscan_NHL_repeat_subgr	p.D443H	ENST00000369301.3	37	c.1327	CCDS7585.1	10	.	.	.	.	.	.	.	.	.	.	G	28.1	4.888086	0.91814	.	.	ENSG00000196865	ENST00000369301	D	0.90444	-2.67	5.62	5.62	0.85841	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.95551	0.8554	M	0.80183	2.485	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	D	0.95514	0.8588	10	0.66056	D	0.02	-20.7793	19.6767	0.95936	0.0:0.0:1.0:0.0	.	443	Q8NBF2	NHLC2_HUMAN	H	443	ENSP00000358307:D443H	ENSP00000358307:D443H	D	+	1	0	NHLRC2	115651602	1.000000	0.71417	0.994000	0.49952	0.921000	0.55340	9.827000	0.99397	2.634000	0.89283	0.655000	0.94253	GAT	NHLRC2	-	NULL		0.507	NHLRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NHLRC2	HGNC	protein_coding	OTTHUMT00000050446.1	G	NM_198514		115661612	+1	no_errors	ENST00000369301	ensembl	human	known	70_37	missense	SNP	1.000	C
NINL	22981	genome.wustl.edu	37	20	25460854	25460854	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:25460854C>G	ENST00000278886.6	-	15	1933	c.1860G>C	c.(1858-1860)ctG>ctC	p.L620L	NINL_ENST00000422516.1_Silent_p.L620L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	620					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	cytosol (GO:0005829)|microtubule (GO:0005874)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTCCATCATCAGCTCCGTTT	0.557																																																	0													153.0	131.0	138.0					20																	25460854		2203	4300	6503	SO:0001819	synonymous_variant	22981				CCDS33452.1	20p11.22-p11.1	2013-01-10			ENSG00000101004	ENSG00000101004		"""EF-hand domain containing"""	29163	protein-coding gene	gene with protein product	"""ninein-like protein"""	609580				10231032	Standard	XM_005260678		Approved	KIAA0980, NLP	uc002wux.1	Q9Y2I6	OTTHUMG00000032127	ENST00000278886.6:c.1860G>C	20.37:g.25460854C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJN0|B3V9H6|B7Z1V8|Q5JYP0|Q8NE38|Q9NQE3	Silent	SNP	pfam_EF-hand,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.L620	ENST00000278886.6	37	c.1860	CCDS33452.1	20																																																																																			NINL	-	NULL		0.557	NINL-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NINL	HGNC	protein_coding	OTTHUMT00000078445.3	C	NM_025176		25460854	-1	no_errors	ENST00000278886	ensembl	human	known	70_37	silent	SNP	0.024	G
NIPA2	81614	genome.wustl.edu	37	15	23014466	23014466	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:23014466G>C	ENST00000337451.3	-	6	871	c.259C>G	c.(259-261)Cca>Gca	p.P87A	NIPA2_ENST00000539711.2_Missense_Mutation_p.P68A|NIPA2_ENST00000398013.3_Missense_Mutation_p.P87A|NIPA2_ENST00000398014.2_Missense_Mutation_p.P87A|NIPA2_ENST00000359727.4_Missense_Mutation_p.P68A	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	87						early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GCTCCTAGTGGAGTCACTAGA	0.438																																																	0													56.0	50.0	52.0					15																	23014466		2203	4300	6503	SO:0001583	missense	81614			AY732242	CCDS73693.1, CCDS73694.1	15q11.2	2008-02-05			ENSG00000140157	ENSG00000140157			17044	protein-coding gene	gene with protein product		608146				14508708	Standard	NM_001008860		Approved		uc001yuz.3	Q8N8Q9	OTTHUMG00000129101	ENST00000337451.3:c.259C>G	15.37:g.23014466G>C	ENSP00000337618:p.Pro87Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W7Y8|Q96F03|Q9BVS2	Missense_Mutation	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.P87A	ENST00000337451.3	37	c.259	CCDS10010.1	15	.	.	.	.	.	.	.	.	.	.	G	18.64	3.666612	0.67814	.	.	ENSG00000140157	ENST00000337451;ENST00000398014;ENST00000359727;ENST00000539711;ENST00000398013	D;D;D	0.96168	-3.93;-3.93;-3.93	5.06	4.13	0.48395	.	0.000000	0.85682	D	0.000000	D	0.98416	0.9473	H	0.95884	3.735	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.83275	0.996;0.984	D	0.99501	1.0953	10	0.72032	D	0.01	-16.3809	15.0827	0.72127	0.0:0.0:0.8568:0.1432	.	68;87	F8W7Y8;Q8N8Q9	.;NIPA2_HUMAN	A	87;87;68;87;68	ENSP00000337618:P87A;ENSP00000381096:P87A;ENSP00000352762:P68A	ENSP00000337618:P87A	P	-	1	0	NIPA2	20565907	1.000000	0.71417	0.957000	0.39632	0.487000	0.33371	9.624000	0.98398	1.236000	0.43740	-0.181000	0.13052	CCA	NIPA2	-	pfam_Mg_trans_NIPA,pfam_DMT		0.438	NIPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPA2	HGNC	protein_coding	OTTHUMT00000251137.1	G	NM_030922		23014466	-1	no_errors	ENST00000337451	ensembl	human	known	70_37	missense	SNP	1.000	C
NIPAL1	152519	genome.wustl.edu	37	4	48037979	48037979	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:48037979G>C	ENST00000295461.5	+	6	1089	c.1023G>C	c.(1021-1023)ctG>ctC	p.L341L		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	341						integral component of membrane (GO:0016021)	magnesium ion transmembrane transporter activity (GO:0015095)			endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TTGGGACCCTGAGTGGATTCT	0.398																																																	0													167.0	152.0	157.0					4																	48037979		2203	4300	6503	SO:0001819	synonymous_variant	152519			BC067881	CCDS3479.1	4p12	2009-03-24		2009-03-24	ENSG00000163293	ENSG00000163293			27194	protein-coding gene	gene with protein product				NPAL1			Standard	NM_207330		Approved	DKFZp686A06115	uc003gxw.3	Q6NVV3	OTTHUMG00000128622	ENST00000295461.5:c.1023G>C	4.37:g.48037979G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTB0|Q68DA9	Silent	SNP	pfam_Mg_trans_NIPA,pfam_DMT	p.L341	ENST00000295461.5	37	c.1023	CCDS3479.1	4																																																																																			NIPAL1	-	pfam_Mg_trans_NIPA		0.398	NIPAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NIPAL1	HGNC	protein_coding	OTTHUMT00000250491.4	G	NM_207330		48037979	+1	no_errors	ENST00000295461	ensembl	human	known	70_37	silent	SNP	1.000	C
NLRC4	58484	genome.wustl.edu	37	2	32463279	32463279	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:32463279G>A	ENST00000404025.2	-	7	2931	c.2443C>T	c.(2443-2445)Ctg>Ttg	p.L815L	NLRC4_ENST00000342905.6_Silent_p.L150L|NLRC4_ENST00000402280.1_Silent_p.L815L|NLRC4_ENST00000360906.5_Silent_p.L815L			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	815					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TCACTTGACAGAGACTTGACT	0.403																																																	0													173.0	166.0	168.0					2																	32463279		2203	4300	6503	SO:0001819	synonymous_variant	58484			AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2443C>T	2.37:g.32463279G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_NACHT_NTPase,pfscan_CARD	p.L815	ENST00000404025.2	37	c.2443	CCDS33174.1	2																																																																																			NLRC4	-	NULL		0.403	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	NLRC4	HGNC	protein_coding	OTTHUMT00000325222.2	G	NM_021209		32463279	-1	no_errors	ENST00000360906	ensembl	human	known	70_37	silent	SNP	0.414	A
NLRC5	84166	genome.wustl.edu	37	16	57059957	57059957	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:57059957G>C	ENST00000262510.6	+	6	1327	c.1102G>C	c.(1102-1104)Gat>Cat	p.D368H	NLRC5_ENST00000436936.1_Missense_Mutation_p.D368H|NLRC5_ENST00000539144.1_Missense_Mutation_p.D368H|NLRC5_ENST00000308149.7_Missense_Mutation_p.D368H	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	368	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|negative regulation of type I interferon-mediated signaling pathway (GO:0060339)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of kinase activity (GO:0043549)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				GTTGGGCTTTGATGGGCCACG	0.622																																																	0													59.0	64.0	62.0					16																	57059957		2198	4300	6498	SO:0001583	missense	84166			AF389420	CCDS10773.1	16q13	2008-02-05			ENSG00000140853	ENSG00000140853		"""Nucleotide-binding domain and leucine rich repeat containing"""	29933	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 5"", ""NOD-like receptor C5"""	613537				12615073	Standard	NM_032206		Approved	NOD27, CLR16.1, FLJ21709	uc021tiu.1	Q86WI3	OTTHUMG00000133470	ENST00000262510.6:c.1102G>C	16.37:g.57059957G>C	ENSP00000262510:p.Asp368His	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MEF1|C9JMD8|Q6P4A6|Q86VM7|Q8NF42|Q8TEE2|Q8TEJ1|Q969L7	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_NACHT_NTPase	p.D368H	ENST00000262510.6	37	c.1102	CCDS10773.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.73|12.73	2.025714|2.025714	0.35701|0.35701	.|.	.|.	ENSG00000140853|ENSG00000140853	ENST00000262510;ENST00000308149;ENST00000436936;ENST00000539144|ENST00000538805	D;D;D;D|.	0.82081|.	-1.57;-1.57;-1.57;-1.57|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.000000|.	0.36134|.	N|.	0.002777|.	T|.	0.69833|.	0.3155|.	M|M	0.79475|0.79475	2.455|2.455	0.34408|0.34408	D|D	0.696062|0.696062	D;D;D;D|.	0.89917|.	1.0;1.0;0.999;1.0|.	D;D;D;D|.	0.87578|.	0.997;0.998;0.994;0.989|.	T|.	0.78848|.	-0.2042|.	10|.	0.66056|.	D|.	0.02|.	.|.	11.7585|11.7585	0.51888|0.51888	0.0802:0.0:0.9198:0.0|0.0802:0.0:0.9198:0.0	.|.	368;368;368;368|.	Q86WI3-5;Q86WI3-4;Q86WI3-6;Q86WI3|.	.;.;.;NLRC5_HUMAN|.	H|S	368|120	ENSP00000262510:D368H;ENSP00000308886:D368H;ENSP00000389739:D368H;ENSP00000441727:D368H|.	ENSP00000262510:D368H|.	D|X	+|+	1|2	0|2	NLRC5|NLRC5	55617458|55617458	1.000000|1.000000	0.71417|0.71417	0.605000|0.605000	0.28930|0.28930	0.033000|0.033000	0.12548|0.12548	5.106000|5.106000	0.64597|0.64597	2.578000|2.578000	0.87016|0.87016	0.561000|0.561000	0.74099|0.74099	GAT|TGA	NLRC5	-	NULL		0.622	NLRC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRC5	HGNC	protein_coding	OTTHUMT00000257346.1	G	NM_032206		57059957	+1	no_errors	ENST00000262510	ensembl	human	known	70_37	missense	SNP	0.952	C
NLRP1	22861	genome.wustl.edu	37	17	5424242	5424242	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:5424242C>A	ENST00000572272.1	-	14	3873	c.3874G>T	c.(3874-3876)Gtg>Ttg	p.V1292L	NLRP1_ENST00000269280.4_Intron|NLRP1_ENST00000262467.5_Missense_Mutation_p.V1296L|NLRP1_ENST00000354411.3_Missense_Mutation_p.V1262L|NLRP1_ENST00000577119.1_Intron|NLRP1_ENST00000345221.3_Intron			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1292					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GACCCAGACACAGTGTAACGA	0.507																																																	0													83.0	71.0	75.0					17																	5424242		2203	4300	6503	SO:0001583	missense	22861			AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.3874G>T	17.37:g.5424242C>A	ENSP00000460475:p.Val1292Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Missense_Mutation	SNP	pfam_CARD,pfam_DAPIN,pfam_Leu-rich_rpt,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD,pfscan_DAPIN,prints_Disease_R	p.V1292L	ENST00000572272.1	37	c.3874	CCDS42246.1	17	.	.	.	.	.	.	.	.	.	.	C	17.29	3.351508	0.61183	.	.	ENSG00000091592	ENST00000544378;ENST00000262467;ENST00000269280;ENST00000354411	T;T;T;T	0.20463	2.07;2.07;2.22;2.07	4.59	2.55	0.30701	.	0.232969	0.22055	N	0.065255	T	0.43411	0.1246	M	0.83483	2.645	0.21184	N	0.999767	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.79784	0.988;0.993;0.981	T	0.19451	-1.0305	10	0.87932	D	0	.	6.3406	0.21321	0.0:0.7134:0.1861:0.1004	.	1262;1292;1296	Q9C000-4;Q9C000;E9PE50	.;NALP1_HUMAN;.	L	1296;1296;1292;1262	ENSP00000442029:V1296L;ENSP00000262467:V1296L;ENSP00000269280:V1292L;ENSP00000346390:V1262L	ENSP00000262467:V1296L	V	-	1	0	NLRP1	5364966	0.534000	0.26362	0.011000	0.14972	0.199000	0.23934	0.690000	0.25451	0.650000	0.30769	0.644000	0.83932	GTG	NLRP1	-	NULL		0.507	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP1	HGNC	protein_coding	OTTHUMT00000439517.1	C	NM_033004		5424242	-1	no_errors	ENST00000572272	ensembl	human	known	70_37	missense	SNP	0.021	A
NLRP2	55655	genome.wustl.edu	37	19	55494074	55494074	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:55494074G>A	ENST00000543010.1	+	6	1151	c.1008G>A	c.(1006-1008)acG>acA	p.T336T	NLRP2_ENST00000263437.6_Silent_p.T333T|NLRP2_ENST00000538819.1_Silent_p.T312T|NLRP2_ENST00000427260.2_Silent_p.T313T|NLRP2_ENST00000391721.4_Silent_p.T312T|NLRP2_ENST00000339757.7_Silent_p.T314T|NLRP2_ENST00000448584.2_Silent_p.T336T|NLRP2_ENST00000537859.1_Silent_p.T314T	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	336	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|Pyrin domain binding (GO:0032090)			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGTCACCACGCGGCCCAGGG	0.637																																																	0													31.0	29.0	29.0					19																	55494074		2203	4300	6503	SO:0001819	synonymous_variant	55655			AK000517	CCDS12913.1, CCDS54318.1, CCDS54319.1	19q13.42	2008-02-05	2006-12-08	2006-12-08	ENSG00000022556	ENSG00000022556		"""Nucleotide-binding domain and leucine rich repeat containing"""	22948	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 2"""	609364	"""NACHT, leucine rich repeat and PYD containing 2"""	NALP2		12563287, 11270363	Standard	NM_001174081		Approved	FLJ20510, PYPAF2, NBS1, PAN1, CLR19.9	uc021vbq.1	Q9NX02	OTTHUMG00000167763	ENST00000543010.1:c.1008G>A	19.37:g.55494074G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZL7|I3L0G4|Q53FL5|Q59G09|Q8IXT0|Q9BVN5|Q9H6G6|Q9HAV9|Q9NWK3	Silent	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.T336	ENST00000543010.1	37	c.1008	CCDS12913.1	19																																																																																			NLRP2	-	pfscan_NACHT_NTPase		0.637	NLRP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP2	HGNC	protein_coding	OTTHUMT00000396152.1	G	NM_017852		55494074	+1	no_errors	ENST00000448584	ensembl	human	known	70_37	silent	SNP	0.002	A
NLRP4	147945	genome.wustl.edu	37	19	56369819	56369819	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56369819G>A	ENST00000301295.6	+	3	1482	c.1060G>A	c.(1060-1062)Gag>Aag	p.E354K	NLRP4_ENST00000346986.5_Missense_Mutation_p.E354K|NLRP4_ENST00000587891.1_Missense_Mutation_p.E279K	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	354	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E354K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTGAAGCAAGAGATGCAGAA	0.507																																																	1	Substitution - Missense(1)	urinary_tract(1)											53.0	48.0	50.0					19																	56369819		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1060G>A	19.37:g.56369819G>A	ENSP00000301295:p.Glu354Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E354K	ENST00000301295.6	37	c.1060	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	16.13	3.035898	0.54896	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83755	-1.76;-1.76	4.1	0.37	0.16160	.	.	.	.	.	D	0.86928	0.6051	L	0.48642	1.525	0.09310	N	1	P;D;D	0.89917	0.937;1.0;1.0	P;D;D	0.77004	0.66;0.989;0.975	T	0.78396	-0.2220	9	0.56958	D	0.05	.	13.1531	0.59500	0.0:0.4543:0.5457:0.0	.	354;279;354	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	K	354	ENSP00000301295:E354K;ENSP00000344787:E354K	ENSP00000301295:E354K	E	+	1	0	NLRP4	61061631	0.000000	0.05858	0.017000	0.16124	0.039000	0.13416	-0.840000	0.04363	0.463000	0.27118	0.655000	0.94253	GAG	NLRP4	-	NULL		0.507	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	G	NM_134444		56369819	+1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.000	A
NLRP4	147945	genome.wustl.edu	37	19	56369832	56369833	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56369832_56369833insA	ENST00000301295.6	+	3	1495_1496	c.1073_1074insA	c.(1072-1077)ggaaaafs	p.GK358fs	NLRP4_ENST00000346986.5_Frame_Shift_Ins_p.GK358fs|NLRP4_ENST00000587891.1_Frame_Shift_Ins_p.GK283fs	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	358	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		ATGCAGAAAGGAAAAGACCTGG	0.51																																																	0																																										SO:0001589	frameshift_variant	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1077dupA	19.37:g.56369836_56369836dupA	ENSP00000301295:p.Gly358fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86W87|Q96AY6	Frame_Shift_Ins	INS	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D360fs	ENST00000301295.6	37	c.1073_1074	CCDS12936.1	19																																																																																			NLRP4	-	NULL		0.510	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	-	NM_134444		56369833	+1	no_errors	ENST00000301295	ensembl	human	known	70_37	frame_shift_ins	INS	0.357:0.000	A
NLRP4	147945	genome.wustl.edu	37	19	56369837	56369837	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56369837G>A	ENST00000301295.6	+	3	1500	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	NLRP4_ENST00000346986.5_Missense_Mutation_p.D360N|NLRP4_ENST00000587891.1_Missense_Mutation_p.D285N	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	360	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.D360N(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAAGGAAAAGACCTGGCCCT	0.522																																																	1	Substitution - Missense(1)	large_intestine(1)											52.0	46.0	48.0					19																	56369837		2203	4300	6503	SO:0001583	missense	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1078G>A	19.37:g.56369837G>A	ENSP00000301295:p.Asp360Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86W87|Q96AY6	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D360N	ENST00000301295.6	37	c.1078	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	15.25	2.777801	0.49786	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	D;D	0.83992	-1.79;-1.79	4.1	4.1	0.47936	.	.	.	.	.	T	0.82075	0.4958	L	0.55834	1.745	0.29724	N	0.838441	P;P;P	0.51653	0.889;0.947;0.911	P;P;B	0.50270	0.618;0.636;0.433	T	0.76119	-0.3076	9	0.35671	T	0.21	.	7.9225	0.29854	0.1114:0.0:0.8886:0.0	.	360;285;360	Q96MN2-2;Q96MN2-3;Q96MN2	.;.;NALP4_HUMAN	N	360	ENSP00000301295:D360N;ENSP00000344787:D360N	ENSP00000301295:D360N	D	+	1	0	NLRP4	61061649	0.578000	0.26717	0.047000	0.18901	0.003000	0.03518	1.492000	0.35594	2.278000	0.76064	0.655000	0.94253	GAC	NLRP4	-	NULL		0.522	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	G	NM_134444		56369837	+1	no_errors	ENST00000301295	ensembl	human	known	70_37	missense	SNP	0.621	A
NLRP4	147945	genome.wustl.edu	37	19	56369915	56369915	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56369915G>T	ENST00000301295.6	+	3	1578	c.1156G>T	c.(1156-1158)Gag>Tag	p.E386*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.E386*|NLRP4_ENST00000587891.1_Nonsense_Mutation_p.E311*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	386	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)	p.E386K(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAGGGTGCCGAGGGCCCGAC	0.557																																																	1	Substitution - Missense(1)	large_intestine(1)											57.0	54.0	55.0					19																	56369915		2203	4300	6503	SO:0001587	stop_gained	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.1156G>T	19.37:g.56369915G>T	ENSP00000301295:p.Glu386*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86W87|Q96AY6	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.E386*	ENST00000301295.6	37	c.1156	CCDS12936.1	19	.	.	.	.	.	.	.	.	.	.	G	36	5.610540	0.96637	.	.	ENSG00000160505	ENST00000301295;ENST00000346986	.	.	.	4.01	-8.02	0.01118	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05351	T	0.99	.	5.9882	0.19446	0.1509:0.4959:0.2686:0.0846	.	.	.	.	X	386	.	ENSP00000301295:E386X	E	+	1	0	NLRP4	61061727	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.375000	0.01071	-4.622000	0.00039	-1.785000	0.00643	GAG	NLRP4	-	NULL		0.557	NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP4	HGNC	protein_coding	OTTHUMT00000457367.2	G	NM_134444		56369915	+1	no_errors	ENST00000301295	ensembl	human	known	70_37	nonsense	SNP	0.000	T
NLRP13	126204	genome.wustl.edu	37	19	56422086	56422086	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:56422086C>G	ENST00000342929.3	-	6	2124	c.2125G>C	c.(2125-2127)Gat>Cat	p.D709H	NLRP13_ENST00000588751.1_Missense_Mutation_p.D709H	NM_176810.2	NP_789780.2	Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	709							ATP binding (GO:0005524)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		ATCCTGGAATCAAACTTGCTT	0.453																																																	0													153.0	134.0	140.0					19																	56422086		2203	4300	6503	SO:0001583	missense	126204			AY154468	CCDS33119.1	19q13.43	2008-02-05	2006-12-08	2006-12-08	ENSG00000173572	ENSG00000173572		"""Nucleotide-binding domain and leucine rich repeat containing"""	22937	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 13"""	609660	"""NACHT, leucine rich repeat and PYD containing 13"""	NALP13		12563287	Standard	NM_176810		Approved	NOD14, PAN13, CLR19.7	uc010ygg.2	Q86W25	OTTHUMG00000167839	ENST00000342929.3:c.2125G>C	19.37:g.56422086C>G	ENSP00000343891:p.Asp709His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7RTR5	Missense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.D709H	ENST00000342929.3	37	c.2125	CCDS33119.1	19	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.572623	0.00887	.	.	ENSG00000173572	ENST00000342929	D	0.92397	-3.03	1.9	-3.81	0.04294	.	.	.	.	.	T	0.80138	0.4568	N	0.19112	0.55	0.09310	N	1	B	0.15719	0.014	B	0.12156	0.007	T	0.64385	-0.6420	9	0.37606	T	0.19	.	0.2529	0.00208	0.1978:0.2579:0.224:0.3203	.	709	Q86W25	NAL13_HUMAN	H	709	ENSP00000343891:D709H	ENSP00000343891:D709H	D	-	1	0	NLRP13	61113898	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.859000	0.04277	-0.961000	0.03609	-0.324000	0.08512	GAT	NLRP13	-	NULL		0.453	NLRP13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NLRP13	HGNC	protein_coding	OTTHUMT00000396560.1	C	NM_176810		56422086	-1	no_errors	ENST00000342929	ensembl	human	known	70_37	missense	SNP	0.000	G
NLRX1	79671	genome.wustl.edu	37	11	119050945	119050945	+	Missense_Mutation	SNP	C	C	T	rs45562142		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:119050945C>T	ENST00000409109.1	+	7	2802	c.2215C>T	c.(2215-2217)Cct>Tct	p.P739S	NLRX1_ENST00000525863.1_Missense_Mutation_p.P739S|NLRX1_ENST00000292199.2_Missense_Mutation_p.P739S|NLRX1_ENST00000409991.1_Missense_Mutation_p.P739S|NLRX1_ENST00000409265.4_Missense_Mutation_p.P739S	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	739	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CCAGCTAGATCCTGCTGGGCT	0.612																																																	0													42.0	40.0	40.0					11																	119050945		2200	4295	6495	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2215C>T	11.37:g.119050945C>T	ENSP00000387334:p.Pro739Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.P739S	ENST00000409109.1	37	c.2215	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	1.637	-0.517578	0.04171	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.51574	0.7;0.7;0.7;0.7;0.7	5.17	3.22	0.36961	.	0.476561	0.22172	N	0.063632	T	0.30634	0.0771	L	0.29908	0.895	0.09310	N	1	B;B	0.19583	0.037;0.025	B;B	0.21151	0.033;0.008	T	0.22068	-1.0227	10	0.08179	T	0.78	.	9.8855	0.41260	0.2349:0.4512:0.3139:0.0	rs45562142	739;739	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	S	739	ENSP00000386851:P739S;ENSP00000292199:P739S;ENSP00000386858:P739S;ENSP00000387334:P739S;ENSP00000433442:P739S	ENSP00000292199:P739S	P	+	1	0	NLRX1	118556155	0.000000	0.05858	0.451000	0.26982	0.243000	0.25628	0.467000	0.22035	0.525000	0.28522	0.313000	0.20887	CCT	NLRX1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.612	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119050945	+1	no_errors	ENST00000292199	ensembl	human	known	70_37	missense	SNP	0.030	T
NLRX1	79671	genome.wustl.edu	37	11	119050953	119050953	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:119050953G>C	ENST00000409109.1	+	7	2810	c.2223G>C	c.(2221-2223)ggG>ggC	p.G741G	NLRX1_ENST00000525863.1_Silent_p.G741G|NLRX1_ENST00000292199.2_Silent_p.G741G|NLRX1_ENST00000409991.1_Silent_p.G741G|NLRX1_ENST00000409265.4_Silent_p.G741G	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	741	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		ATCCTGCTGGGCTGCGCACAC	0.607																																																	0													37.0	36.0	36.0					11																	119050953		2199	4292	6491	SO:0001819	synonymous_variant	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2223G>C	11.37:g.119050953G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.G741	ENST00000409109.1	37	c.2223	CCDS8416.1	11																																																																																			NLRX1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.607	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	G	NM_170722		119050953	+1	no_errors	ENST00000292199	ensembl	human	known	70_37	silent	SNP	0.703	C
NLRX1	79671	genome.wustl.edu	37	11	119052817	119052817	+	Missense_Mutation	SNP	C	C	T	rs569295450		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:119052817C>T	ENST00000409109.1	+	9	2956	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	NLRX1_ENST00000525863.1_Missense_Mutation_p.P790L|NLRX1_ENST00000292199.2_Missense_Mutation_p.P790L|NLRX1_ENST00000409991.1_Missense_Mutation_p.P790L|NLRX1_ENST00000409265.4_Missense_Mutation_p.P790L	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	790	Required for the repression of MAVS- induced interferon signaling.				innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TCCAACAACCCGCTGACGGCG	0.622																																																	0													135.0	128.0	130.0					11																	119052817		2200	4295	6495	SO:0001583	missense	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.2369C>T	11.37:g.119052817C>T	ENSP00000387334:p.Pro790Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase	p.P790L	ENST00000409109.1	37	c.2369	CCDS8416.1	11	.	.	.	.	.	.	.	.	.	.	C	14.18	2.459134	0.43634	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.52057	0.68;0.68;0.68;0.68;0.68	4.78	4.78	0.61160	.	0.069630	0.64402	D	0.000017	T	0.58409	0.2120	L	0.29908	0.895	0.52099	D	0.999949	D;D	0.89917	1.0;0.999	D;P	0.91635	0.999;0.872	T	0.59595	-0.7425	10	0.46703	T	0.11	.	18.0036	0.89203	0.0:1.0:0.0:0.0	.	790;790	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	L	790	ENSP00000386851:P790L;ENSP00000292199:P790L;ENSP00000386858:P790L;ENSP00000387334:P790L;ENSP00000433442:P790L	ENSP00000292199:P790L	P	+	2	0	NLRX1	118558027	0.999000	0.42202	0.963000	0.40424	0.191000	0.23601	4.259000	0.58828	2.493000	0.84123	0.609000	0.83330	CCG	NLRX1	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.622	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119052817	+1	no_errors	ENST00000292199	ensembl	human	known	70_37	missense	SNP	0.997	T
NOC3L	64318	genome.wustl.edu	37	10	96100229	96100229	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:96100229G>A	ENST00000371361.3	-	15	1769	c.1669C>T	c.(1669-1671)Cac>Tac	p.H557Y	NOC3L_ENST00000543788.1_Missense_Mutation_p.H295Y|NOC3L_ENST00000371350.1_Missense_Mutation_p.H557Y	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	557					fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TGGACACAGTGAAGACTTTCT	0.343																																																	0													58.0	59.0	58.0					10																	96100229		2203	4298	6501	SO:0001583	missense	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.1669C>T	10.37:g.96100229G>A	ENSP00000360412:p.His557Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H5M6|Q9H9D8	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,pfam_NOC3p,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3	p.H557Y	ENST00000371361.3	37	c.1669	CCDS7433.1	10	.	.	.	.	.	.	.	.	.	.	G	22.4	4.286759	0.80803	.	.	ENSG00000173145	ENST00000543788;ENST00000371361;ENST00000371350	T;T;T	0.22134	1.97;1.97;1.97	5.71	5.71	0.89125	CCAAT-binding factor (1);	0.113500	0.64402	D	0.000003	T	0.39358	0.1075	L	0.52905	1.665	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.08351	-1.0726	10	0.05959	T	0.93	-12.5023	19.8677	0.96824	0.0:0.0:1.0:0.0	.	557	Q8WTT2	NOC3L_HUMAN	Y	295;557;557	ENSP00000437838:H295Y;ENSP00000360412:H557Y;ENSP00000360401:H557Y	ENSP00000360401:H557Y	H	-	1	0	NOC3L	96090219	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.357000	0.97099	2.709000	0.92574	0.655000	0.94253	CAC	NOC3L	-	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold,pirsf_Nucleolar_cplx-assoc_3		0.343	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	G	NM_022451		96100229	-1	no_errors	ENST00000371350	ensembl	human	known	70_37	missense	SNP	1.000	A
NODAL	4838	genome.wustl.edu	37	10	72195141	72195141	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:72195141C>A	ENST00000287139.3	-	2	791	c.792G>T	c.(790-792)tgG>tgT	p.W264C	AC022532.1_ENST00000420338.2_Missense_Mutation_p.P30T	NM_018055.4	NP_060525.3	Q96S42	NODAL_HUMAN	nodal growth differentiation factor	264					axial mesodermal cell fate specification (GO:0048327)|brain development (GO:0007420)|cell migration involved in gastrulation (GO:0042074)|digestive tract morphogenesis (GO:0048546)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic pattern specification (GO:0009880)|embryonic placenta development (GO:0001892)|embryonic process involved in female pregnancy (GO:0060136)|endodermal cell differentiation (GO:0035987)|epiblast cell-extraembryonic ectoderm cell signaling involved in anterior/posterior axis specification (GO:0060802)|floor plate morphogenesis (GO:0033505)|formation of anatomical boundary (GO:0048859)|growth (GO:0040007)|heart looping (GO:0001947)|inhibition of neuroepithelial cell differentiation (GO:0002085)|left lung morphogenesis (GO:0060460)|liver development (GO:0001889)|maternal placenta development (GO:0001893)|maternal process involved in parturition (GO:0060137)|mesendoderm development (GO:0048382)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of chorionic trophoblast cell proliferation (GO:1901383)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of trophoblast cell migration (GO:1901164)|neural fold formation (GO:0001842)|nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900164)|placenta development (GO:0001890)|polarity specification of proximal/distal axis (GO:0010085)|positive regulation of activin receptor signaling pathway (GO:0032927)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell-cell adhesion (GO:0022409)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of nodal signaling pathway involved in determination of lateral mesoderm left/right asymmetry (GO:1900224)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gastrulation (GO:0010470)|regulation of stem cell maintenance (GO:2000036)|SMAD protein signal transduction (GO:0060395)|stem cell maintenance (GO:0019827)|transforming growth factor beta receptor signaling pathway involved in primitive streak formation (GO:0090010)|trophectodermal cellular morphogenesis (GO:0001831)|vasculature development (GO:0001944)	extracellular space (GO:0005615)	morphogen activity (GO:0016015)|type I activin receptor binding (GO:0070698)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(2)	15						GGTAGATGATCCAGGAGCCCC	0.552																																																	0													102.0	83.0	89.0					10																	72195141		2203	4300	6503	SO:0001583	missense	4838			BC033585	CCDS7304.1	10q22.1	2012-12-07	2012-12-07		ENSG00000156574	ENSG00000156574			7865	protein-coding gene	gene with protein product		601265	"""nodal, mouse, homolog"", ""nodal homolog (mouse)"""			9354794	Standard	NM_018055		Approved		uc001jrc.2	Q96S42	OTTHUMG00000018408	ENST00000287139.3:c.792G>T	10.37:g.72195141C>A	ENSP00000287139:p.Trp264Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3A5|Q8N4V3	Missense_Mutation	SNP	pfam_TGF-b_C,pfam_TGF-b_N,smart_TGF-b_C	p.W264C	ENST00000287139.3	37	c.792	CCDS7304.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.6|22.6	4.310357|4.310357	0.81358|0.81358	.|.	.|.	ENSG00000197604|ENSG00000156574	ENST00000420338|ENST00000287139;ENST00000414871	.|D;D	.|0.93076	.|-3.16;-3.16	5.88|5.88	5.88|5.88	0.94601|0.94601	.|Transforming growth factor-beta, C-terminal (3);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98369|0.98369	0.9458|0.9458	H|H	0.98883|0.98883	4.36|4.36	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.99357|0.99357	1.0916|1.0916	6|10	0.87932|0.87932	D|D	0|0	.|.	19.0137|19.0137	0.92884|0.92884	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|264	.|Q96S42	.|NODAL_HUMAN	T|C	30|264;209	.|ENSP00000287139:W264C;ENSP00000394468:W209C	ENSP00000411125:P30T|ENSP00000287139:W264C	P|W	+|-	1|3	0|0	AC022532.1|NODAL	71865147|71865147	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.078000|7.078000	0.76821|0.76821	2.782000|2.782000	0.95742|0.95742	0.655000|0.655000	0.94253|0.94253	CCA|TGG	NODAL	-	pfam_TGF-b_C,smart_TGF-b_C		0.552	NODAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NODAL	HGNC	protein_coding	OTTHUMT00000048511.1	C	NM_018055		72195141	-1	no_errors	ENST00000287139	ensembl	human	known	70_37	missense	SNP	1.000	A
NOC3L	64318	genome.wustl.edu	37	10	96117815	96117815	+	Intron	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:96117815G>T	ENST00000371361.3	-	3	451				NOC3L_ENST00000463649.1_5'UTR|NOC3L_ENST00000371350.1_Intron	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)						fat cell differentiation (GO:0045444)	nuclear speck (GO:0016607)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GGATATGAATGATTATAACCC	0.313																																																	0													82.0	80.0	81.0					10																	96117815		2203	4297	6500	SO:0001627	intron_variant	64318			AL355341	CCDS7433.1	10q23.33	2004-04-20	2005-08-01	2005-08-01	ENSG00000173145	ENSG00000173145			24034	protein-coding gene	gene with protein product		610769	"""chromosome 10 open reading frame 117"""	C10orf117		15564382	Standard	NM_022451		Approved	AD24, FLJ12820, FAD24	uc001kjq.1	Q8WTT2	OTTHUMG00000018788	ENST00000371361.3:c.350+24C>A	10.37:g.96117815G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H5M6|Q9H9D8	RNA	SNP	-	NULL	ENST00000371361.3	37	NULL	CCDS7433.1	10																																																																																			NOC3L	-	-		0.313	NOC3L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NOC3L	HGNC	protein_coding	OTTHUMT00000049466.1	G	NM_022451		96117815	-1	no_errors	ENST00000463649	ensembl	human	known	70_37	rna	SNP	0.000	T
NOL11	25926	genome.wustl.edu	37	17	65717632	65717632	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:65717632G>A	ENST00000253247.4	+	4	566	c.451G>A	c.(451-453)Gaa>Aaa	p.E151K	NOL11_ENST00000535137.1_5'UTR	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	151					maturation of SSU-rRNA (GO:0030490)|positive regulation of transcription of nuclear large rRNA transcript from RNA polymerase I promoter (GO:1901838)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|t-UTP complex (GO:0034455)	poly(A) RNA binding (GO:0044822)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTCTGATGAAGAAGTGATTAA	0.368																																																	0													84.0	84.0	84.0					17																	65717632		2203	4300	6503	SO:0001583	missense	25926			AK023702	CCDS11671.1	17q24.2	2005-08-08							24557	protein-coding gene	gene with protein product		615366				12477932	Standard	NM_015462		Approved	DKFZP586L0724	uc002jgd.1	Q9H8H0		ENST00000253247.4:c.451G>A	17.37:g.65717632G>A	ENSP00000253247:p.Glu151Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z5V9|Q7L5S1|Q9UG18	Missense_Mutation	SNP	pfam_NUC205	p.E151K	ENST00000253247.4	37	c.451	CCDS11671.1	17	.	.	.	.	.	.	.	.	.	.	G	14.74	2.625016	0.46840	.	.	ENSG00000130935	ENST00000253247	T	0.22945	1.93	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.49898	0.1584	M	0.65498	2.005	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.51585	-0.8687	10	0.87932	D	0	-23.5593	15.6562	0.77136	0.0:0.0:1.0:0.0	.	151	Q9H8H0	NOL11_HUMAN	K	151	ENSP00000253247:E151K	ENSP00000253247:E151K	E	+	1	0	NOL11	63148094	1.000000	0.71417	1.000000	0.80357	0.776000	0.43924	8.494000	0.90477	2.523000	0.85059	0.561000	0.74099	GAA	NOL11	-	NULL		0.368	NOL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL11	HGNC	protein_coding	OTTHUMT00000448074.1	G	NM_015462		65717632	+1	no_errors	ENST00000253247	ensembl	human	known	70_37	missense	SNP	1.000	A
NONO	4841	genome.wustl.edu	37	X	70517280	70517280	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:70517280G>T	ENST00000276079.8	+	8	1202	c.997G>T	c.(997-999)Gag>Tag	p.E333*	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000535149.1_Nonsense_Mutation_p.E244*|NONO_ENST00000373841.1_Nonsense_Mutation_p.E333*|NONO_ENST00000373856.3_Nonsense_Mutation_p.E333*	NM_007363.4	NP_031389.3	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	333	DBHS.				circadian rhythm (GO:0007623)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|mRNA processing (GO:0006397)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					GCACAACCAAGAGGTGCAAAA	0.408			T	TFE3	papillary renal cancer																																			Dom	yes		X	Xq13.1	4841	"""non-POU domain containing, octamer-binding"""		E	0													83.0	65.0	71.0					X																	70517280		2195	4275	6470	SO:0001587	stop_gained	4841			L14599	CCDS14410.1, CCDS55445.1	Xq13.1	2014-06-13	2002-01-14		ENSG00000147140	ENSG00000147140		"""RNA binding motif (RRM) containing"""	7871	protein-coding gene	gene with protein product	"""Nuclear RNA-binding protein, 54-kD"", ""non-Pou domain-containing octamer (ATGCAAAT) binding protein"", ""protein phosphatase 1, regulatory subunit 114"""	300084	"""non-POU-domain-containing, octamer-binding"""			8371983, 9360842	Standard	NM_007363		Approved	NRB54, NMT55, P54NRB, P54, PPP1R114	uc004dzp.3	Q15233	OTTHUMG00000021798	ENST00000276079.8:c.997G>T	X.37:g.70517280G>T	ENSP00000276079:p.Glu333*	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4C2|D3DVV4|F5GYZ3|O00201|P30807|Q12786|Q9BQC5	Nonsense_Mutation	SNP	pfam_RRM_dom,pfam_NOPS,smart_RRM_dom,pfscan_RRM_dom	p.E333*	ENST00000276079.8	37	c.997	CCDS14410.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	27.9|27.9	4.875197|4.875197	0.91664|0.91664	.|.	.|.	ENSG00000147140|ENSG00000147140	ENST00000535149;ENST00000276079;ENST00000373856;ENST00000373841;ENST00000413858|ENST00000418921	.|.	.|.	.|.	4.84|4.84	4.84|4.84	0.62591|0.62591	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	.|T	.|0.72439	.|0.3460	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74064	.|-0.3785	.|3	0.42905|.	T|.	0.14|.	-11.6207|-11.6207	17.1858|17.1858	0.86866|0.86866	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|N	244;333;333;333;241|194	.|.	ENSP00000276079:E333X|.	E|K	+|+	1|3	0|2	NONO|NONO	70434005|70434005	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	9.202000|9.202000	0.95026|0.95026	2.237000|2.237000	0.73441|0.73441	0.436000|0.436000	0.28706|0.28706	GAG|AAG	NONO	-	NULL		0.408	NONO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NONO	HGNC	protein_coding	OTTHUMT00000057138.1	G	NM_007363		70517280	+1	no_errors	ENST00000276079	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NOTCH1	4851	genome.wustl.edu	37	9	139413262	139413262	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:139413262C>T	ENST00000277541.6	-	6	955	c.880G>A	c.(880-882)Gag>Aag	p.E294K	MIR4673_ENST00000584777.1_RNA	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	294					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCACATCCTCGGTACAGTAC	0.642			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																														Dom	yes		9	9q34.3	4851	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""		L	0													60.0	65.0	64.0					9																	139413262		2189	4292	6481	SO:0001583	missense	4851			AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.880G>A	9.37:g.139413262C>T	ENSP00000277541:p.Glu294Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59ED8|Q5SXM3	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_EGF_extracell,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_1,prints_Notch_dom	p.E294K	ENST00000277541.6	37	c.880	CCDS43905.1	9	.	.	.	.	.	.	.	.	.	.	C	17.99	3.522271	0.64747	.	.	ENSG00000148400	ENST00000277541	D	0.91124	-2.79	5.3	4.34	0.51931	.	0.051710	0.85682	N	0.000000	D	0.90195	0.6935	L	0.31120	0.905	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.85861	0.1410	10	0.10902	T	0.67	.	11.4987	0.50424	0.0:0.9032:0.0:0.0968	.	294	P46531	NOTC1_HUMAN	K	294	ENSP00000277541:E294K	ENSP00000277541:E294K	E	-	1	0	NOTCH1	138533083	1.000000	0.71417	0.806000	0.32338	0.144000	0.21451	4.784000	0.62411	1.098000	0.41479	0.561000	0.74099	GAG	NOTCH1	-	pirsf_Notch		0.642	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH1	HGNC	protein_coding	OTTHUMT00000055087.1	C	NM_017617		139413262	-1	no_errors	ENST00000277541	ensembl	human	known	70_37	missense	SNP	0.998	T
NOTCH4	4855	genome.wustl.edu	37	6	32163434	32163434	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:32163434C>T	ENST00000375023.3	-	30	5930	c.5792G>A	c.(5791-5793)cGa>cAa	p.R1931Q	GPSM3_ENST00000487761.1_5'Flank|GPSM3_ENST00000375043.3_5'Flank|GPSM3_ENST00000375040.3_5'Flank|NOTCH4_ENST00000443903.2_3'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1931					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTATCTTCCTCGCATTATCGC	0.672																																																	0													72.0	74.0	73.0					6																	32163434		1509	2707	4216	SO:0001583	missense	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5792G>A	6.37:g.32163434C>T	ENSP00000364163:p.Arg1931Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.R1931Q	ENST00000375023.3	37	c.5792	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	C	12.73	2.024726	0.35701	.	.	ENSG00000204301	ENST00000375023	D	0.81659	-1.52	4.26	-1.38	0.09027	.	1.173460	0.06844	U	0.796167	T	0.37812	0.1017	N	0.19112	0.55	0.09310	N	0.999992	B;B	0.17852	0.024;0.007	B;B	0.06405	0.002;0.002	T	0.07385	-1.0775	10	0.25106	T	0.35	.	0.6672	0.00853	0.3239:0.3204:0.1586:0.1971	.	1931;1930	Q99466;B0S882	NOTC4_HUMAN;.	Q	1931	ENSP00000364163:R1931Q	ENSP00000364163:R1931Q	R	-	2	0	NOTCH4	32271412	0.000000	0.05858	0.016000	0.15963	0.005000	0.04900	-0.400000	0.07241	-0.092000	0.12417	-0.157000	0.13467	CGA	NOTCH4	-	pirsf_Notch		0.672	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	C			32163434	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	missense	SNP	0.001	T
NOX4	50507	genome.wustl.edu	37	11	89155129	89155129	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:89155129G>A	ENST00000263317.4	-	8	808	c.570C>T	c.(568-570)ttC>ttT	p.F190F	NOX4_ENST00000531342.1_Intron|NOX4_ENST00000527956.1_Silent_p.F166F|NOX4_ENST00000424319.1_Silent_p.F166F|NOX4_ENST00000535633.1_Silent_p.F166F|NOX4_ENST00000532825.1_Silent_p.F166F|NOX4_ENST00000534731.1_Silent_p.F190F|NOX4_ENST00000343727.5_Silent_p.F166F|NOX4_ENST00000525196.1_Silent_p.F190F|NOX4_ENST00000413594.2_Silent_p.F211F|NOX4_ENST00000527626.1_Silent_p.F24F|NOX4_ENST00000528341.1_Silent_p.F165F|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000542487.1_Silent_p.F166F			Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	190	Ferric oxidoreductase.				bone resorption (GO:0045453)|cardiac muscle cell differentiation (GO:0055007)|cell aging (GO:0007569)|cell morphogenesis (GO:0000902)|cellular response to cAMP (GO:0071320)|cellular response to gamma radiation (GO:0071480)|cellular response to glucose stimulus (GO:0071333)|cellular response to transforming growth factor beta stimulus (GO:0071560)|homocysteine metabolic process (GO:0050667)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|oxidation-reduction process (GO:0055114)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of stress fiber assembly (GO:0051496)|reactive oxygen species metabolic process (GO:0072593)|response to hypoxia (GO:0001666)|superoxide anion generation (GO:0042554)	apical plasma membrane (GO:0016324)|endoplasmic reticulum (GO:0005783)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|NADPH oxidase complex (GO:0043020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|modified amino acid binding (GO:0072341)|NAD(P)H oxidase activity (GO:0016174)|nucleotide binding (GO:0000166)|oxygen sensor activity (GO:0019826)|superoxide-generating NADPH oxidase activity (GO:0016175)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				GAGTATACCAGAAGATATCAT	0.318																																																	0													102.0	102.0	102.0					11																	89155129		2201	4298	6499	SO:0001819	synonymous_variant	50507			AF254621	CCDS8285.1, CCDS44695.1, CCDS44696.1, CCDS73361.1, CCDS73362.1	11q14.2-q21	2008-02-05			ENSG00000086991	ENSG00000086991			7891	protein-coding gene	gene with protein product		605261					Standard	NM_001143837		Approved	KOX-1, KOX	uc001pct.3	Q9NPH5	OTTHUMG00000167298	ENST00000263317.4:c.570C>T	11.37:g.89155129G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K715|B7Z520|E7EMD7|Q5K3R4|Q5K3R5|Q5K3R6|Q5K3R8|Q7Z7G3|Q86V92	Silent	SNP	pfam_Fe_red_NAD-bd_6,pfam_Fe3_Rdtase_TM_dom,pfam_FAD-bd_8,superfamily_Riboflavin_synthase-like_b-brl,prints_Cyt_b245_heavy_chain	p.F211	ENST00000263317.4	37	c.633	CCDS8285.1	11																																																																																			NOX4	-	pfam_Fe3_Rdtase_TM_dom		0.318	NOX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOX4	HGNC	protein_coding	OTTHUMT00000394054.1	G	NM_016931		89155129	-1	no_errors	ENST00000413594	ensembl	human	known	70_37	silent	SNP	1.000	A
NPEPPS	9520	genome.wustl.edu	37	17	45608819	45608819	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:45608819C>G	ENST00000322157.4	+	1	390	c.153C>G	c.(151-153)ttC>ttG	p.F51L	NPEPPS_ENST00000530173.1_Missense_Mutation_p.F47L|NPEPPS_ENST00000525037.1_Intron|NPEPPS_ENST00000544660.1_Missense_Mutation_p.F7L	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	51					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						AGAGGCCCTTCGAGCGGCTGC	0.687																																																	0																																										SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.153C>G	17.37:g.45608819C>G	ENSP00000320324:p.Phe51Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.F51L	ENST00000322157.4	37	c.153	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	C	14.35	2.508473	0.44660	.	.	ENSG00000141279	ENST00000525007;ENST00000530173;ENST00000322157;ENST00000544660	T;T;T;T	0.03889	3.77;3.77;3.77;3.77	2.46	2.46	0.29980	.	0.135690	0.50627	U	0.000116	T	0.03915	0.0110	N	0.08118	0	0.80722	D	1	B;B;P	0.41848	0.233;0.029;0.763	B;B;P	0.48454	0.105;0.041;0.578	T	0.56932	-0.7897	10	0.11485	T	0.65	.	11.7159	0.51653	0.0:1.0:0.0:0.0	.	51;47;51	A6NEC2;E9PLK3;P55786	PSAL_HUMAN;.;PSA_HUMAN	L	38;47;51;7	ENSP00000437019:F38L;ENSP00000433287:F47L;ENSP00000320324:F51L;ENSP00000442461:F7L	ENSP00000320324:F51L	F	+	3	2	NPEPPS	42963818	1.000000	0.71417	1.000000	0.80357	0.896000	0.52359	3.145000	0.50623	1.202000	0.43218	0.478000	0.44815	TTC	NPEPPS	-	NULL		0.687	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	C	NM_006310		45608819	+1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	1.000	G
NPIPB3	23117	genome.wustl.edu	37	16	21416144	21416144	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:21416144C>T	ENST00000448012.2	-	8	1038	c.999G>A	c.(997-999)gaG>gaA	p.E333E	NPIPB3_ENST00000542817.1_Silent_p.E155E|NPIPB3_ENST00000458643.2_Silent_p.E188E	NM_130464.2	NP_569731.2	Q92617	NPIB3_HUMAN	nuclear pore complex interacting protein family, member B3	497	Pro-rich.					integral component of membrane (GO:0016021)											GGAGCAGACACTCGGCACGTG	0.577																																																	0													4.0	4.0	4.0					16																	21416144		1166	2125	3291	SO:0001819	synonymous_variant	23117					16p12.2	2013-06-11	2013-06-11	2013-06-11	ENSG00000169246	ENSG00000169246			28989	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 3"""	NPIPL3		11948212	Standard	NM_130464		Approved	KIAA0220	uc021tei.1	Q92617	OTTHUMG00000163506	ENST00000448012.2:c.999G>A	16.37:g.21416144C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43332|Q504Q6|Q59F29|Q6GMR1|Q6P7T2|Q6PIE2|Q6RH21	Silent	SNP	pfam_NPIP	p.E249	ENST00000448012.2	37	c.747		16																																																																																			NPIPL3	-	pfam_NPIP		0.577	NPIPB3-201	KNOWN	basic|appris_principal	protein_coding	NPIPL3	HGNC	protein_coding		C	NM_130464		21416144	-1	no_errors	ENST00000447737	ensembl	human	known	70_37	silent	SNP	0.008	T
NPR1	4881	genome.wustl.edu	37	1	153665889	153665889	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:153665889G>A	ENST00000368680.3	+	22	3657	c.3185G>A	c.(3184-3186)tGa>tAa	p.*1062*		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	0					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	ACCCGAGGCTGACCTGCCTCC	0.622																																					Pancreas(141;1349 1870 15144 15830 40702)												0													59.0	59.0	59.0					1																	153665889		2203	4300	6503	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.3185G>A	1.37:g.153665889G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.*1062	ENST00000368680.3	37	c.3185	CCDS1051.1	1																																																																																			NPR1	-	NULL		0.622	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153665889	+1	no_errors	ENST00000368680	ensembl	human	known	70_37	silent	SNP	1.000	A
NPL	80896	genome.wustl.edu	37	1	182798813	182798813	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:182798813G>A	ENST00000367553.1	+	0	1777				NPL_ENST00000367555.1_Silent_p.*241*|NPL_ENST00000367554.3_3'UTR|NPL_ENST00000367552.2_Silent_p.*241*	NM_001200056.1|NM_030769.2	NP_001186985.1|NP_110396.1	Q9BXD5	NPL_HUMAN	N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase)						carbohydrate metabolic process (GO:0005975)|N-acetylneuraminate catabolic process (GO:0019262)	cytoplasm (GO:0005737)	N-acetylneuraminate lyase activity (GO:0008747)			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						TTCCTCCACTGAGAAGACTGT	0.448																																																	0																																										SO:0001624	3_prime_UTR_variant	80896			AF338436	CCDS1350.1, CCDS55666.1, CCDS55667.1, CCDS72990.1	1q25	2010-11-25	2003-09-16	2003-09-17	ENSG00000135838	ENSG00000135838	4.1.3.3		16781	protein-coding gene	gene with protein product	"""dihydrodipicolinate synthetase homolog 1 (E. coli)"""	611412	"""chromosome 1 open reading frame 13"""	C1orf13		11318611	Standard	NM_001200056		Approved	NPL1, DHDPS1	uc009wyb.3	Q9BXD5	OTTHUMG00000035321	ENST00000367553.1:c.*770G>A	1.37:g.182798813G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R839|Q4G0Q8|Q4G0Z2|Q64L88|Q6PEL0	Silent	SNP	pfam_Dihydrodipicolinate_synth-like,prints_Dihydrodipicolinate_synth-like	p.*241	ENST00000367553.1	37	c.722	CCDS1350.1	1																																																																																			NPL	-	NULL		0.448	NPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPL	HGNC	protein_coding	OTTHUMT00000085463.1	G	NM_030769		182798813	+1	no_errors	ENST00000367552	ensembl	human	known	70_37	silent	SNP	0.040	A
NPR3	4883	genome.wustl.edu	37	5	32712325	32712325	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:32712325C>T	ENST00000265074.8	+	1	786	c.443C>T	c.(442-444)tCg>tTg	p.S148L	NPR3_ENST00000415167.2_Missense_Mutation_p.S148L|NPR3_ENST00000434067.2_Intron|NPR3_ENST00000415685.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor 3	148					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of smooth muscle cell proliferation (GO:0048662)|osteoclast proliferation (GO:0002158)|pancreatic juice secretion (GO:0030157)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of urine volume (GO:0035810)|regulation of blood pressure (GO:0008217)|regulation of osteoblast proliferation (GO:0033688)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	G-protein coupled peptide receptor activity (GO:0008528)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	CGGCTTGCATCGCACTGGGAC	0.701																																																	0													45.0	51.0	49.0					5																	32712325		1990	4125	6115	SO:0001583	missense	4883				CCDS47196.1, CCDS56356.1, CCDS56357.1	5p13.3	2014-03-03	2014-03-03		ENSG00000113389	ENSG00000113389			7945	protein-coding gene	gene with protein product	"""guanylate cyclase C"""	108962	"""chromosome 5 open reading frame 23"", ""atrionatriuretic peptide receptor C"", ""natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)"", ""natriuretic peptide receptor C"""	NPRC, ANPRC, C5orf23		2162522, 1979052	Standard	NM_000908		Approved	GUCY2B, FLJ14054	uc003jhv.3	P17342	OTTHUMG00000150316	ENST00000265074.8:c.443C>T	5.37:g.32712325C>T	ENSP00000265074:p.Ser148Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRD1|B4DT84|E7EPG9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt	p.S148L	ENST00000265074.8	37	c.443	CCDS56357.1	5	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538539	0.65085	.	.	ENSG00000113389	ENST00000265074;ENST00000415167	D;D	0.83250	-1.7;-1.7	4.66	3.79	0.43588	Extracellular ligand-binding receptor (1);	0.244488	0.43110	D	0.000616	D	0.87557	0.6207	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.998	P;P	0.55055	0.767;0.704	D	0.88224	0.2899	10	0.56958	D	0.05	-9.6613	12.4316	0.55577	0.0:0.9178:0.0:0.0822	.	148;148	P17342;Q60I31	ANPRC_HUMAN;.	L	148	ENSP00000265074:S148L;ENSP00000398028:S148L	ENSP00000265074:S148L	S	+	2	0	NPR3	32748082	1.000000	0.71417	0.778000	0.31720	0.562000	0.35680	3.624000	0.54231	1.193000	0.43086	0.561000	0.74099	TCG	NPR3	-	pfam_ANF_lig-bd_rcpt,prints_Ntpep_rcpt		0.701	NPR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NPR3	HGNC	protein_coding	OTTHUMT00000317550.3	C	NM_000908		32712325	+1	no_errors	ENST00000265074	ensembl	human	known	70_37	missense	SNP	0.980	T
ACP2	53	genome.wustl.edu	37	11	47270221	47270221	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:47270221C>T	ENST00000256997.3	-	1	231				ACP2_ENST00000444355.2_Intron|ACP2_ENST00000530453.1_Intron|ACP2_ENST00000537863.1_Intron|NR1H3_ENST00000481889.2_5'Flank|ACP2_ENST00000533929.1_5'Flank|NR1H3_ENST00000529540.1_Intron|ACP2_ENST00000529444.1_Intron|NR1H3_ENST00000395397.3_5'Flank|NR1H3_ENST00000405576.1_5'Flank|ACP2_ENST00000527256.1_Intron|ACP2_ENST00000529788.1_Intron|NR1H3_ENST00000407404.1_5'Flank	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal						dephosphorylation (GO:0016311)|lysosome organization (GO:0007040)|skeletal system development (GO:0001501)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)	acid phosphatase activity (GO:0003993)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						GCCCATCTCTCATTACCAAGG	0.617																																					Melanoma(90;262 1440 11488 44828 48531)												0													21.0	23.0	22.0					11																	47270221		2193	4296	6489	SO:0001627	intron_variant	10062			X15525	CCDS7928.1, CCDS44583.1	11p11.2	2008-02-05			ENSG00000134575	ENSG00000134575	3.1.3.2		123	protein-coding gene	gene with protein product		171650				975882	Standard	NM_001610		Approved		uc001nei.3	P11117	OTTHUMG00000166949	ENST00000256997.3:c.114+5G>A	11.37:g.47270221C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PCI1|Q561W5|Q9BTU7	RNA	SNP	-	NULL	ENST00000256997.3	37	NULL	CCDS7928.1	11																																																																																			NR1H3	-	-		0.617	ACP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000392022.2	C	NM_001610		47270221	+1	no_errors	ENST00000495866	ensembl	human	known	70_37	rna	SNP	0.901	T
NR2C1	7181	genome.wustl.edu	37	12	95422265	95422265	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:95422265C>G	ENST00000333003.5	-	12	1759	c.1429G>C	c.(1429-1431)Gag>Cag	p.E477Q	NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	477					gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	DNA binding (GO:0003677)|receptor activity (GO:0004872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						AAGATGTGCTCCATCAATAAT	0.328																																																	0													128.0	116.0	120.0					12																	95422265		2203	4300	6503	SO:0001583	missense	7181			M29960	CCDS9051.1, CCDS41821.1, CCDS44953.1	12q22	2013-01-16				ENSG00000120798		"""Nuclear hormone receptors"""	7971	protein-coding gene	gene with protein product		601529		TR2		2597158	Standard	NM_001032287		Approved	TR2-11	uc001tdm.5	P13056	OTTHUMG00000170131	ENST00000333003.5:c.1429G>C	12.37:g.95422265C>G	ENSP00000333275:p.Glu477Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5K4|Q15625|Q15626	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Str_hrmn_rcpt	p.E477Q	ENST00000333003.5	37	c.1429	CCDS9051.1	12	.	.	.	.	.	.	.	.	.	.	C	17.89	3.499475	0.64298	.	.	ENSG00000120798	ENST00000333003	D	0.97731	-4.51	5.23	5.23	0.72850	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.195730	0.53938	D	0.000054	D	0.97598	0.9213	M	0.73962	2.25	0.80722	D	1	B	0.31989	0.35	B	0.40534	0.332	D	0.97729	1.0201	10	0.51188	T	0.08	.	18.7954	0.91991	0.0:1.0:0.0:0.0	.	477	P13056	NR2C1_HUMAN	Q	477	ENSP00000333275:E477Q	ENSP00000333275:E477Q	E	-	1	0	NR2C1	93946396	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	7.818000	0.86416	2.421000	0.82119	0.563000	0.77884	GAG	NR2C1	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.328	NR2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR2C1	HGNC	protein_coding	OTTHUMT00000407565.2	C	NM_003297		95422265	-1	no_errors	ENST00000333003	ensembl	human	known	70_37	missense	SNP	1.000	G
NRG3	10718	genome.wustl.edu	37	10	84733553	84733553	+	Missense_Mutation	SNP	G	G	T	rs142991883		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:84733553G>T	ENST00000404547.1	+	7	1294	c.1294G>T	c.(1294-1296)Gtg>Ttg	p.V432L	NRG3_ENST00000372142.2_Missense_Mutation_p.V211L|NRG3_ENST00000537893.1_Missense_Mutation_p.V82L|NRG3_ENST00000556918.1_Missense_Mutation_p.V262L|NRG3_ENST00000372141.2_Missense_Mutation_p.V432L|NRG3_ENST00000545131.1_Missense_Mutation_p.V82L|NRG3_ENST00000404576.2_Missense_Mutation_p.V236L			P56975	NRG3_HUMAN	neuregulin 3	432					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		GTATTCAAAGGTGGAAAGGCA	0.473																																																	0													127.0	113.0	118.0					10																	84733553		2203	4300	6503	SO:0001583	missense	10718			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.1294G>T	10.37:g.84733553G>T	ENSP00000384796:p.Val432Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.V432L	ENST00000404547.1	37	c.1294	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605860	0.46527	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.54279	1.43;1.49;0.58;0.58;0.58;0.58;0.58	5.95	3.89	0.44902	.	0.596543	0.15802	N	0.243918	T	0.30135	0.0755	N	0.14661	0.345	0.21020	N	0.99981	B;B;B;B	0.19706	0.004;0.038;0.004;0.004	B;B;B;B	0.18871	0.009;0.023;0.013;0.009	T	0.08351	-1.0726	10	0.38643	T	0.18	-33.1932	3.2253	0.06730	0.2324:0.0:0.5603:0.2074	.	431;432;211;432	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	L	432;432;431;211;236;262;82;82	ENSP00000361214:V432L;ENSP00000384796:V432L;ENSP00000361215:V211L;ENSP00000385804:V236L;ENSP00000451376:V262L;ENSP00000441201:V82L;ENSP00000440377:V82L	ENSP00000361214:V432L	V	+	1	0	NRG3	84723533	0.990000	0.36364	1.000000	0.80357	0.992000	0.81027	1.052000	0.30429	1.524000	0.49035	0.650000	0.86243	GTG	NRG3	-	NULL		0.473	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1	G	XM_166086		84733553	+1	no_errors	ENST00000404547	ensembl	human	known	70_37	missense	SNP	1.000	T
NRXN1	9378	genome.wustl.edu	37	2	51255238	51255238	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:51255238G>C	ENST00000406316.2	-	2	1650	c.174C>G	c.(172-174)ctC>ctG	p.L58L	NRXN1_ENST00000405472.3_Silent_p.L58L|NRXN1_ENST00000405581.1_Silent_p.L58L|NRXN1_ENST00000401669.2_Silent_p.L58L|NRXN1_ENST00000402717.3_Silent_p.L58L|NRXN1_ENST00000406859.3_Silent_p.L58L|NRXN1_ENST00000404971.1_Silent_p.L58L	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	58	Laminin G-like 1. {ECO:0000255|PROSITE- ProRule:PRU00122}.				adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TGCGAGTCTTGAGCTGGAAGC	0.677																																																	0													9.0	13.0	12.0					2																	51255238		1985	4136	6121	SO:0001819	synonymous_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.174C>G	2.37:g.51255238G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	Silent	SNP	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,smart_Neurexin-like,pfscan_EG-like_dom,pfscan_Laminin_G	p.L58	ENST00000406316.2	37	c.174	CCDS54360.1	2																																																																																			NRXN1	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.677	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	G			51255238	-1	no_errors	ENST00000402717	ensembl	human	known	70_37	silent	SNP	1.000	C
NT5C3B	115024	genome.wustl.edu	37	17	39988679	39988679	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:39988679C>T	ENST00000435506.2	-	5	348	c.279G>A	c.(277-279)cgG>cgA	p.R93R	NT5C3B_ENST00000521789.1_Silent_p.R60R|NT5C3B_ENST00000269534.8_Silent_p.R85R			Q969T7	5NT3B_HUMAN	5'-nucleotidase, cytosolic IIIB	93					nucleotide metabolic process (GO:0009117)	cytoplasm (GO:0005737)	5'-nucleotidase activity (GO:0008253)|magnesium ion binding (GO:0000287)|nucleotide binding (GO:0000166)										CCTTGACGGTCCGGTGTGGGT	0.512																																																	0													198.0	144.0	162.0					17																	39988679		2203	4300	6503	SO:0001819	synonymous_variant	115024				CCDS11410.1, CCDS11410.2	17q21.2	2013-01-31	2013-01-31	2013-01-31	ENSG00000141698	ENSG00000141698	3.1.3.5		28300	protein-coding gene	gene with protein product			"""5'-nucleotidase, cytosolic III-like"""	NT5C3L		23223233	Standard	NM_052935		Approved	MGC20781	uc021txo.1	Q969T7	OTTHUMG00000133499	ENST00000435506.2:c.279G>A	17.37:g.39988679C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWB9|C9JKC4|Q7L3B7	Silent	SNP	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu	p.R85	ENST00000435506.2	37	c.255	CCDS11410.2	17																																																																																			NT5C3L	-	pfam_Pyrimidine_nucleotidase_eu,superfamily_HAD-like_dom,tigrfam_Pyrimidine_nucleotidase_eu		0.512	NT5C3B-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	NT5C3L	HGNC	protein_coding	OTTHUMT00000257430.2	C	NM_052935		39988679	-1	no_errors	ENST00000269534	ensembl	human	known	70_37	silent	SNP	0.002	T
NUDT19	390916	genome.wustl.edu	37	19	33202660	33202660	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:33202660G>A	ENST00000397061.3	+	3	925	c.925G>A	c.(925-927)Gat>Aat	p.D309N		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	309						mitochondrion (GO:0005739)|peroxisome (GO:0005777)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					TTTTTCAGGTGATGAGCTATA	0.284																																																	0													34.0	31.0	32.0					19																	33202660		1793	4066	5859	SO:0001583	missense	390916				CCDS42543.1	19q13.11	2011-11-16			ENSG00000213965	ENSG00000213965		"""Nudix motif containing"""	32036	protein-coding gene	gene with protein product							Standard	NM_001105570		Approved	RP2	uc010edf.3	A8MXV4		ENST00000397061.3:c.925G>A	19.37:g.33202660G>A	ENSP00000380251:p.Asp309Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like	p.D309N	ENST00000397061.3	37	c.925	CCDS42543.1	19	.	.	.	.	.	.	.	.	.	.	G	18.34	3.603569	0.66445	.	.	ENSG00000213965	ENST00000397061	T	0.66995	-0.24	5.32	5.32	0.75619	.	0.000000	0.85682	U	0.000000	D	0.82531	0.5057	M	0.82630	2.6	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.84947	0.0869	10	0.72032	D	0.01	-25.3896	14.4901	0.67645	0.0:0.0:1.0:0.0	.	309	A8MXV4	NUD19_HUMAN	N	309	ENSP00000380251:D309N	ENSP00000380251:D309N	D	+	1	0	NUDT19	37894500	1.000000	0.71417	1.000000	0.80357	0.448000	0.32197	5.125000	0.64715	2.492000	0.84095	0.549000	0.68633	GAT	NUDT19	-	NULL		0.284	NUDT19-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	NUDT19	HGNC	protein_coding	OTTHUMT00000450338.3	G	XM_372723		33202660	+1	no_errors	ENST00000397061	ensembl	human	novel	70_37	missense	SNP	1.000	A
NUDT6	11162	genome.wustl.edu	37	4	123843699	123843699	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:123843699C>T	ENST00000304430.5	-	1	62	c.29G>A	c.(28-30)tGg>tAg	p.W10*	SPATA5_ENST00000274008.4_5'Flank|NUDT6_ENST00000339154.2_Intron	NM_007083.4	NP_009014.2	P53370	NUDT6_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 6	10						mitochondrion (GO:0005739)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|hydrolase activity (GO:0016787)			endometrium(2)|lung(1)|prostate(1)|skin(1)|stomach(1)	6						CATCGCGCGCCAGCGGCCCCA	0.692																																																	0													13.0	15.0	14.0					4																	123843699		1888	4037	5925	SO:0001587	stop_gained	11162			AF019632	CCDS3729.1, CCDS43268.1	4q26	2011-02-21			ENSG00000170917	ENSG00000170917		"""Nudix motif containing"""	8053	protein-coding gene	gene with protein product		606261				7984147, 10022609	Standard	NM_198041		Approved	gfg-1, gfg, FGF2AS, FGF-AS	uc003iew.3	P53370	OTTHUMG00000039507	ENST00000304430.5:c.29G>A	4.37:g.123843699C>T	ENSP00000306070:p.Trp10*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K756|O95097|Q9UQD9	Nonsense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,superfamily_NUDIX_hydrolase_dom-like,prints_Nudix_hydrolase6-like	p.W10*	ENST00000304430.5	37	c.29	CCDS43268.1	4	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997919	0.74818	.	.	ENSG00000170917	ENST00000304430	.	.	.	3.97	2.12	0.27331	.	0.606331	0.15958	N	0.236385	.	.	.	.	.	.	0.20074	N	0.999936	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.8737	10.2084	0.43126	0.3972:0.6028:0.0:0.0	.	.	.	.	X	10	.	ENSP00000306070:W10X	W	-	2	0	NUDT6	124063149	0.000000	0.05858	0.028000	0.17463	0.005000	0.04900	0.217000	0.17603	0.368000	0.24481	0.462000	0.41574	TGG	NUDT6	-	NULL		0.692	NUDT6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT6	HGNC	protein_coding	OTTHUMT00000095331.3	C	NM_007083		123843699	-1	no_errors	ENST00000304430	ensembl	human	known	70_37	nonsense	SNP	0.070	T
NUP155	9631	genome.wustl.edu	37	5	37310788	37310788	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37310788C>G	ENST00000231498.3	-	23	2697	c.2494G>C	c.(2494-2496)Gaa>Caa	p.E832Q	NUP155_ENST00000502533.1_5'Flank|NUP155_ENST00000513532.1_Intron|NUP155_ENST00000381843.2_Missense_Mutation_p.E773Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	832					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTGTGAGTTCTTTGTCCCTG	0.383																																																	0													139.0	143.0	142.0					5																	37310788		2203	4300	6503	SO:0001583	missense	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.2494G>C	5.37:g.37310788C>G	ENSP00000231498:p.Glu832Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UBE9|Q9UFL5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.E832Q	ENST00000231498.3	37	c.2494	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	C	28.2	4.897746	0.91962	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056	T;T	0.77098	-1.07;-1.07	5.92	5.92	0.95590	Nucleoporin, Nup133/Nup155-like, C-terminal (1);	0.225182	0.47852	D	0.000213	D	0.82614	0.5075	L	0.53249	1.67	0.80722	D	1	P	0.42908	0.793	P	0.54026	0.74	T	0.75428	-0.3321	10	0.12103	T	0.63	-3.7354	20.3167	0.98654	0.0:1.0:0.0:0.0	.	832	O75694	NU155_HUMAN	Q	832;773;794	ENSP00000231498:E832Q;ENSP00000371265:E773Q	ENSP00000231498:E832Q	E	-	1	0	NUP155	37346545	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.458000	0.80787	2.809000	0.96659	0.557000	0.71058	GAA	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_C		0.383	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	C	NM_153485, NM_004298		37310788	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	missense	SNP	1.000	G
NUP155	9631	genome.wustl.edu	37	5	37331856	37331856	+	Silent	SNP	C	C	A	rs566167474		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37331856C>A	ENST00000231498.3	-	14	1763	c.1560G>T	c.(1558-1560)ctG>ctT	p.L520L	NUP155_ENST00000513532.1_Silent_p.L520L|NUP155_ENST00000381843.2_Silent_p.L461L	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	520					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTAGATGCCTCAGTTGATCTA	0.338																																																	0													91.0	91.0	91.0					5																	37331856		2203	4300	6503	SO:0001819	synonymous_variant	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1560G>T	5.37:g.37331856C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UBE9|Q9UFL5	Silent	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.L520	ENST00000231498.3	37	c.1560	CCDS3921.1	5																																																																																			NUP155	-	NULL		0.338	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	C	NM_153485, NM_004298		37331856	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	silent	SNP	1.000	A
NUP155	9631	genome.wustl.edu	37	5	37341221	37341221	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:37341221G>C	ENST00000231498.3	-	11	1420	c.1217C>G	c.(1216-1218)tCa>tGa	p.S406*	NUP155_ENST00000513532.1_Nonsense_Mutation_p.S406*|NUP155_ENST00000381843.2_Nonsense_Mutation_p.S347*	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	406					atrial cardiac muscle cell action potential (GO:0086014)|carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear envelope organization (GO:0006998)|protein import into nucleus (GO:0006606)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATGTACTTTTGAAGGCTTTTC	0.373																																																	0													75.0	71.0	73.0					5																	37341221		2203	4300	6503	SO:0001587	stop_gained	9631			AJ007558	CCDS3921.1, CCDS43310.1, CCDS64142.1	5p13.1	2008-02-05	2002-08-29		ENSG00000113569	ENSG00000113569			8063	protein-coding gene	gene with protein product		606694	"""nucleoporin 155kD"""			10191094	Standard	NM_153485		Approved	KIAA0791, N155	uc003jku.1	O75694	OTTHUMG00000090803	ENST00000231498.3:c.1217C>G	5.37:g.37341221G>C	ENSP00000231498:p.Ser406*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UBE9|Q9UFL5	Nonsense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N,superfamily_WD40_repeat_dom	p.S406*	ENST00000231498.3	37	c.1217	CCDS3921.1	5	.	.	.	.	.	.	.	.	.	.	G	38	6.737103	0.97801	.	.	ENSG00000113569	ENST00000231498;ENST00000381843;ENST00000434056;ENST00000513532	.	.	.	5.53	3.75	0.43078	.	0.210051	0.42821	D	0.000654	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.22109	T	0.4	-0.0747	11.8799	0.52568	0.1411:0.0:0.8589:0.0	.	.	.	.	X	406;347;368;406	.	ENSP00000231498:S406X	S	-	2	0	NUP155	37376978	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	5.924000	0.70054	0.808000	0.34231	0.591000	0.81541	TCA	NUP155	-	pfam_Nucleoporin_Nup133/Nup155_N		0.373	NUP155-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP155	HGNC	protein_coding	OTTHUMT00000207593.2	G	NM_153485, NM_004298		37341221	-1	no_errors	ENST00000231498	ensembl	human	known	70_37	nonsense	SNP	1.000	C
NUP210L	91181	genome.wustl.edu	37	1	154031136	154031136	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:154031136C>A	ENST00000368559.3	-	21	2955	c.2884G>T	c.(2884-2886)Gag>Tag	p.E962*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.E962*|NUP210L_ENST00000368553.1_5'Flank	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	962					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCATAGACCTCCAAGGTAAAA	0.428																																																	0													90.0	81.0	84.0					1																	154031136		1837	4092	5929	SO:0001587	stop_gained	91181			AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.2884G>T	1.37:g.154031136C>A	ENSP00000357547:p.Glu962*	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Nonsense_Mutation	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,smart_Big_2	p.E962*	ENST00000368559.3	37	c.2884	CCDS41399.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.849918	0.97885	.	.	ENSG00000143552	ENST00000368559;ENST00000271854	.	.	.	4.44	3.51	0.40186	.	0.135069	0.33959	N	0.004391	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13470	T	0.59	-24.0406	10.0465	0.42190	0.0:0.9022:0.0:0.0978	.	.	.	.	X	962	.	ENSP00000271854:E962X	E	-	1	0	NUP210L	152297760	1.000000	0.71417	1.000000	0.80357	0.694000	0.40290	2.630000	0.46494	1.056000	0.40484	0.591000	0.81541	GAG	NUP210L	-	NULL		0.428	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP210L	HGNC	protein_coding	OTTHUMT00000087270.3	C	NM_207308		154031136	-1	no_errors	ENST00000368559	ensembl	human	known	70_37	nonsense	SNP	1.000	A
NUP88	4927	genome.wustl.edu	37	17	5290743	5290743	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:5290743C>T	ENST00000573584.1	-	14	2388	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	NUP88_ENST00000573169.1_5'Flank	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	627					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						TTAGCTTCCTCATATTTGTCA	0.408																																																	0													206.0	183.0	191.0					17																	5290743		2203	4300	6503	SO:0001583	missense	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.1879G>A	17.37:g.5290743C>T	ENSP00000458954:p.Glu627Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTM2|Q9BWE5	Missense_Mutation	SNP	pfam_Nucleoporin_Nup88	p.E627K	ENST00000573584.1	37	c.1879	CCDS11070.1	17	.	.	.	.	.	.	.	.	.	.	C	33	5.211511	0.95069	.	.	ENSG00000108559	ENST00000225696;ENST00000543132	.	.	.	4.76	4.76	0.60689	.	0.000000	0.85682	D	0.000000	T	0.78432	0.4282	M	0.76328	2.33	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.83275	0.832;0.996	T	0.76860	-0.2803	9	0.35671	T	0.21	-18.7098	17.3312	0.87264	0.0:1.0:0.0:0.0	.	512;627	B4DP20;Q99567	.;NUP88_HUMAN	K	627;512	.	ENSP00000225696:E627K	E	-	1	0	NUP88	5231467	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.710000	0.74670	2.656000	0.90262	0.650000	0.86243	GAG	NUP88	-	pfam_Nucleoporin_Nup88		0.408	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	C	NM_002532		5290743	-1	no_errors	ENST00000573584	ensembl	human	known	70_37	missense	SNP	1.000	T
NUP88	4927	genome.wustl.edu	37	17	5322971	5322971	+	5'UTR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:5322971C>G	ENST00000573584.1	-	0	509				RPAIN_ENST00000327154.6_5'Flank|RPAIN_ENST00000381209.3_5'UTR|RPAIN_ENST00000574003.1_5'Flank|RPAIN_ENST00000536255.2_5'UTR|RPAIN_ENST00000405578.4_5'Flank|RPAIN_ENST00000381208.5_5'UTR	NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	transporter activity (GO:0005215)			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CGGCCGCCATCTTGGCCCAAC	0.657																																																	0													28.0	31.0	30.0					17																	5322971		2201	4298	6499	SO:0001623	5_prime_UTR_variant	4927			Y08612	CCDS11070.1	17p13	2004-02-18	2002-08-29		ENSG00000108559	ENSG00000108559			8067	protein-coding gene	gene with protein product		602552	"""nucleoporin 88kD"""			9049309	Standard	NM_002532		Approved	MGC8530	uc002gbo.2	Q99567	OTTHUMG00000099453	ENST00000573584.1:c.-1G>C	17.37:g.5322971C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTM2|Q9BWE5	RNA	SNP	-	NULL	ENST00000573584.1	37	NULL	CCDS11070.1	17																																																																																			NUP88	-	-		0.657	NUP88-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP88	HGNC	protein_coding	OTTHUMT00000216918.3	C	NM_002532		5322971	-1	no_errors	ENST00000572019	ensembl	human	known	70_37	rna	SNP	1.000	G
NXF1	10482	genome.wustl.edu	37	11	62571010	62571010	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62571010C>T	ENST00000532297.1	-	4	879	c.250G>A	c.(250-252)Gat>Aat	p.D84N	NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.D84N|NXF1_ENST00000294172.2_Missense_Mutation_p.D84N|NXF1_ENST00000439713.2_Missense_Mutation_p.D84N			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	84	Interaction with ALYREF/THOC4.|Major non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCAAGTATCACCCCGACGG	0.527																																																	0													128.0	119.0	122.0					11																	62571010		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.250G>A	11.37:g.62571010C>T	ENSP00000436679:p.Asp84Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.D84N	ENST00000532297.1	37	c.250	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	12.77	2.037424	0.35989	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713;ENST00000533671;ENST00000531474	T;T;T;T	0.46063	0.95;0.95;0.92;0.88	4.66	3.75	0.43078	.	0.281143	0.34802	N	0.003676	T	0.40171	0.1106	L	0.38175	1.15	0.30836	N	0.736199	B;D;B	0.55172	0.057;0.97;0.067	B;P;B	0.54346	0.029;0.749;0.014	T	0.31420	-0.9944	10	0.18276	T	0.48	-15.522	8.3474	0.32281	0.0:0.8944:0.0:0.1056	.	127;97;84	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	N	84;84;127;84;24;24	ENSP00000294172:D84N;ENSP00000436679:D84N;ENSP00000435742:D127N;ENSP00000408864:D84N	ENSP00000294172:D84N	D	-	1	0	NXF1	62327586	0.719000	0.27986	0.089000	0.20774	0.926000	0.56050	2.886000	0.48578	1.187000	0.43000	0.655000	0.94253	GAT	NXF1	-	NULL		0.527	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571010	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	0.406	T
NXF1	10482	genome.wustl.edu	37	11	62571336	62571336	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62571336C>T	ENST00000532297.1	-	3	772	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.R48Q|NXF1_ENST00000294172.2_Missense_Mutation_p.R48Q|NXF1_ENST00000439713.2_Missense_Mutation_p.R48Q			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	48	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCGGGAAGACCGAATACCAGA	0.517																																																	0													135.0	130.0	132.0					11																	62571336		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.143G>A	11.37:g.62571336C>T	ENSP00000436679:p.Arg48Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.R48Q	ENST00000532297.1	37	c.143	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	12.51	1.958507	0.34565	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.46451	0.93;0.93;0.89;0.87	4.82	2.93	0.34026	.	0.417675	0.25991	N	0.027002	T	0.28101	0.0693	L	0.41710	1.295	0.09310	N	1	B;B;B	0.18863	0.01;0.031;0.009	B;B;B	0.12156	0.002;0.005;0.007	T	0.15009	-1.0452	10	0.23891	T	0.37	-10.6249	5.3418	0.15988	0.0:0.6553:0.1651:0.1796	.	91;61;48	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	Q	48;48;91;48	ENSP00000294172:R48Q;ENSP00000436679:R48Q;ENSP00000435742:R91Q;ENSP00000408864:R48Q	ENSP00000294172:R48Q	R	-	2	0	NXF1	62327912	0.992000	0.36948	0.689000	0.30133	0.996000	0.88848	3.576000	0.53878	0.621000	0.30232	0.655000	0.94253	CGG	NXF1	-	NULL		0.517	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571336	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	0.070	T
NXF1	10482	genome.wustl.edu	37	11	62571352	62571352	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62571352C>T	ENST00000532297.1	-	3	756	c.127G>A	c.(127-129)Ggc>Agc	p.G43S	NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.G43S|NXF1_ENST00000294172.2_Missense_Mutation_p.G43S|NXF1_ENST00000439713.2_Missense_Mutation_p.G43S			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	43	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCAGAACCGCCTCTTCCAGAC	0.517																																																	0													137.0	136.0	136.0					11																	62571352		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.127G>A	11.37:g.62571352C>T	ENSP00000436679:p.Gly43Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.G43S	ENST00000532297.1	37	c.127	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	24.1	4.493721	0.84962	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.50548	0.9;0.9;0.82;0.74	4.82	4.82	0.62117	.	0.109676	0.64402	D	0.000010	T	0.56978	0.2022	L	0.36672	1.1	0.80722	D	1	D;D;D	0.89917	0.968;1.0;0.999	P;D;D	0.87578	0.476;0.998;0.909	T	0.48614	-0.9020	10	0.21014	T	0.42	-22.3564	15.4751	0.75471	0.0:1.0:0.0:0.0	.	86;56;43	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	S	43;43;86;43	ENSP00000294172:G43S;ENSP00000436679:G43S;ENSP00000435742:G86S;ENSP00000408864:G43S	ENSP00000294172:G43S	G	-	1	0	NXF1	62327928	0.984000	0.35163	0.998000	0.56505	0.969000	0.65631	3.362000	0.52314	2.503000	0.84419	0.655000	0.94253	GGC	NXF1	-	NULL		0.517	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571352	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	1.000	T
NXF1	10482	genome.wustl.edu	37	11	62571445	62571445	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62571445C>G	ENST00000532297.1	-	3	663	c.34G>C	c.(34-36)Gat>Cat	p.D12H	NXF1_ENST00000531131.1_Intron|NXF1_ENST00000531709.2_Missense_Mutation_p.D12H|NXF1_ENST00000294172.2_Missense_Mutation_p.D12H|NXF1_ENST00000439713.2_Missense_Mutation_p.D12H			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1	12	Interaction with ALYREF/THOC4.|Minor non-specific RNA-binding.|RNA-binding (RBD).				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGTTCATCATCGTGTTCTAGA	0.453																																																	0													97.0	102.0	100.0					11																	62571445		2201	4299	6500	SO:0001583	missense	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.34G>C	11.37:g.62571445C>G	ENSP00000436679:p.Asp12His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E269|Q99799|Q9UQL2	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_NTF2,pfam_TAP_C_dom,pfam_Leu-rich_rpt,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.D12H	ENST00000532297.1	37	c.34	CCDS8037.1	11	.	.	.	.	.	.	.	.	.	.	C	19.60	3.857584	0.71834	.	.	ENSG00000162231	ENST00000294172;ENST00000532297;ENST00000530875;ENST00000439713	T;T;T;T	0.58358	0.78;0.78;0.34;0.56	4.82	3.91	0.45181	.	1.086910	0.07062	N	0.833881	T	0.70439	0.3224	L	0.57536	1.79	0.58432	D	0.999995	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.985;0.999	T	0.58707	-0.7589	10	0.56958	D	0.05	-22.192	12.2327	0.54497	0.1713:0.8287:0.0:0.0	.	55;25;12	E9PIN3;Q59E96;Q9UBU9	.;.;NXF1_HUMAN	H	12;12;55;12	ENSP00000294172:D12H;ENSP00000436679:D12H;ENSP00000435742:D55H;ENSP00000408864:D12H	ENSP00000294172:D12H	D	-	1	0	NXF1	62328021	0.999000	0.42202	0.990000	0.47175	0.917000	0.54804	3.179000	0.50887	1.242000	0.43836	0.655000	0.94253	GAT	NXF1	-	NULL		0.453	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62571445	-1	no_errors	ENST00000294172	ensembl	human	known	70_37	missense	SNP	1.000	G
NXF1	10482	genome.wustl.edu	37	11	62572855	62572855	+	5'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62572855C>T	ENST00000532297.1	-	0	603				NXF1_ENST00000531131.1_5'UTR|RP11-727F15.13_ENST00000596971.1_RNA|NXF1_ENST00000531709.2_5'UTR|NXF1_ENST00000294172.2_5'UTR|NXF1_ENST00000439713.2_5'UTR			Q9UBU9	NXF1_HUMAN	nuclear RNA export factor 1						gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)|viral process (GO:0016032)	cytosol (GO:0005829)|nuclear inclusion body (GO:0042405)|nuclear pore (GO:0005643)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)	mRNA binding (GO:0003729)|nucleocytoplasmic transporter activity (GO:0005487)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGGGCGGGCTCAGGCGCTGGC	0.637																																																	0													41.0	36.0	37.0					11																	62572855		2201	4298	6499	SO:0001623	5_prime_UTR_variant	10482			AF112880	CCDS8037.1, CCDS44629.1	11q12-q13	2008-07-21			ENSG00000162231	ENSG00000162231			8071	protein-coding gene	gene with protein product	"""tip associating protein"""	602647				9175835, 9660949	Standard	NM_001081491		Approved	TAP, Mex67, DKFZp667O0311	uc001nvf.1	Q9UBU9	OTTHUMG00000167612	ENST00000532297.1:c.-27G>A	11.37:g.62572855C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E269|Q99799|Q9UQL2	RNA	SNP	-	NULL	ENST00000532297.1	37	NULL	CCDS8037.1	11																																																																																			NXF1	-	-		0.637	NXF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF1	HGNC	protein_coding	OTTHUMT00000395365.2	C	NM_006362		62572855	-1	no_errors	ENST00000526163	ensembl	human	known	70_37	rna	SNP	0.008	T
NXT2	55916	genome.wustl.edu	37	X	108781313	108781313	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:108781313G>C	ENST00000372106.1	+	2	186	c.55G>C	c.(55-57)Gag>Cag	p.E19Q	NXT2_ENST00000372107.1_5'UTR|NXT2_ENST00000372103.1_5'UTR|NXT2_ENST00000218004.1_Missense_Mutation_p.E74Q	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	19	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						TAGAGCTGCTGAGGAGTTTGT	0.333																																																	0													134.0	132.0	132.0					X																	108781313		2203	4300	6503	SO:0001583	missense	55916			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.55G>C	X.37:g.108781313G>C	ENSP00000361178:p.Glu19Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.E74Q	ENST00000372106.1	37	c.220	CCDS56605.1	X	.	.	.	.	.	.	.	.	.	.	g	18.73	3.685693	0.68157	.	.	ENSG00000101888	ENST00000218004;ENST00000372106	.	.	.	5.44	4.57	0.56435	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	T	0.69993	0.3173	L	0.55990	1.75	0.80722	D	1	P;P	0.36909	0.573;0.518	P;B	0.51701	0.677;0.424	T	0.68812	-0.5310	9	0.39692	T	0.17	.	13.8352	0.63404	0.0766:0.0:0.9234:0.0	.	19;74	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	Q	74;19	.	ENSP00000218004:E74Q	E	+	1	0	NXT2	108667969	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.472000	0.97709	1.345000	0.45676	0.597000	0.82753	GAG	NXT2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.333	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT2	HGNC	protein_coding	OTTHUMT00000057886.1	G	NM_018698		108781313	+1	no_errors	ENST00000218004	ensembl	human	known	70_37	missense	SNP	1.000	C
NXT2	55916	genome.wustl.edu	37	X	108785781	108785781	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:108785781G>T	ENST00000372106.1	+	4	424	c.293G>T	c.(292-294)gGa>gTa	p.G98V	NXT2_ENST00000372107.1_Missense_Mutation_p.G70V|NXT2_ENST00000372103.1_Missense_Mutation_p.G70V|NXT2_ENST00000218004.1_Missense_Mutation_p.G153V	NM_001242617.1	NP_001229546.1	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	98	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA transport (GO:0051028)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						GTGACCAGTGGAACTGTGAAG	0.393																																																	0													110.0	88.0	96.0					X																	108785781		2203	4300	6503	SO:0001583	missense	55916			AF246127	CCDS14546.1, CCDS56605.1, CCDS56606.1	Xq22.3	2008-02-05			ENSG00000101888	ENSG00000101888			18151	protein-coding gene	gene with protein product		300320				11073998	Standard	NM_018698		Approved	P15-2	uc004eoe.2	Q9NPJ8	OTTHUMG00000022185	ENST00000372106.1:c.293G>T	X.37:g.108785781G>T	ENSP00000361178:p.Gly98Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUY1|Q0VAN8|Q5JYV5|Q5JYV6|Q5JYV7|Q9H8U0|Q9NQ64|Q9NRL7|Q9Y3M4|Q9Y3M5	Missense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.G153V	ENST00000372106.1	37	c.458	CCDS56605.1	X	.	.	.	.	.	.	.	.	.	.	G	26.1	4.708973	0.89018	.	.	ENSG00000101888	ENST00000218004;ENST00000372107;ENST00000372106;ENST00000372103	.	.	.	5.45	5.45	0.79879	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.000000	0.85682	D	0.000000	D	0.86640	0.5981	M	0.92412	3.305	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89539	0.3791	9	0.87932	D	0	.	18.9548	0.92654	0.0:0.0:1.0:0.0	.	98;153	Q9NPJ8;Q9NPJ8-3	NXT2_HUMAN;.	V	153;70;98;70	.	ENSP00000218004:G153V	G	+	2	0	NXT2	108672437	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.476000	0.97823	2.618000	0.88619	0.600000	0.82982	GGA	NXT2	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.393	NXT2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT2	HGNC	protein_coding	OTTHUMT00000057886.1	G	NM_018698		108785781	+1	no_errors	ENST00000218004	ensembl	human	known	70_37	missense	SNP	1.000	T
OAS2	4939	genome.wustl.edu	37	12	113442962	113442962	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:113442962C>G	ENST00000342315.4	+	7	1617	c.1403C>G	c.(1402-1404)tCt>tGt	p.S468C	RP1-71H24.1_ENST00000552784.1_RNA|OAS2_ENST00000392583.2_Missense_Mutation_p.S468C	NM_016817.2	NP_058197.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	468	OAS domain 2.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|interferon-gamma-mediated signaling pathway (GO:0060333)|nucleobase-containing compound metabolic process (GO:0006139)|protein glycosylation (GO:0006486)|protein myristoylation (GO:0018377)|purine nucleotide biosynthetic process (GO:0006164)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	2'-5'-oligoadenylate synthetase activity (GO:0001730)|ATP binding (GO:0005524)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CTGAGCTTCTCTCTGAAATCC	0.512																																					Pancreas(199;709 2232 18410 33584 35052)												0													88.0	74.0	79.0					12																	113442962		2203	4300	6503	SO:0001583	missense	4939			M87284	CCDS31906.1, CCDS41839.1, CCDS44982.1	12q24.2	2008-05-02	2002-08-29			ENSG00000111335			8087	protein-coding gene	gene with protein product		603350	"""2'-5'-oligoadenylate synthetase 2 (69-71 kD)"""			9790745	Standard	NM_002535		Approved		uc001tuj.3	P29728	OTTHUMG00000169802	ENST00000342315.4:c.1403C>G	12.37:g.113442962C>G	ENSP00000342278:p.Ser468Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9T1|Q6PJ33|Q86XX8	Missense_Mutation	SNP	pfam_2-5-oligoAdlate_synth_1_dom2/C,pfam_Nucleotidyltransferase,pfscan_2-5-oligoadenylate_synth_N	p.S468C	ENST00000342315.4	37	c.1403	CCDS31906.1	12	.	.	.	.	.	.	.	.	.	.	.	10.90	1.482468	0.26598	.	.	ENSG00000111335	ENST00000342315;ENST00000392583	T;T	0.08546	3.08;3.08	4.43	3.49	0.39957	.	0.724482	0.11695	N	0.538506	T	0.22244	0.0536	L	0.59436	1.845	0.19775	N	0.999958	D;D	0.76494	0.999;0.999	D;D	0.66716	0.946;0.934	T	0.05257	-1.0896	10	0.66056	D	0.02	-28.6494	9.4334	0.38624	0.2124:0.7876:0.0:0.0	.	468;468	P29728;P29728-2	OAS2_HUMAN;.	C	468	ENSP00000342278:S468C;ENSP00000376362:S468C	ENSP00000342278:S468C	S	+	2	0	OAS2	111927345	0.068000	0.21057	0.008000	0.14137	0.139000	0.21198	1.592000	0.36676	1.137000	0.42214	0.655000	0.94253	TCT	OAS2	-	NULL		0.512	OAS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OAS2	HGNC	protein_coding	OTTHUMT00000405937.1	C			113442962	+1	no_errors	ENST00000342315	ensembl	human	known	70_37	missense	SNP	0.011	G
OBSL1	23363	genome.wustl.edu	37	2	220418361	220418361	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:220418361C>T	ENST00000404537.1	-	16	4980	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	OBSL1_ENST00000373876.1_Missense_Mutation_p.E1550K|OBSL1_ENST00000265318.4_3'UTR	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1642	Ig-like 13.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GTGTCGCCCTCGGTCACCTCT	0.622											OREG0003989	type=REGULATORY REGION|Gene=AK092118|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													52.0	55.0	54.0					2																	220418361		2093	4207	6300	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4924G>A	2.37:g.220418361C>T	ENSP00000385636:p.Glu1642Lys	Somatic	2266	WXS	Illumina HiSeq	Phase_IV	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1642K	ENST00000404537.1	37	c.4924	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	29.3	4.990892	0.93106	.	.	ENSG00000124006	ENST00000404537;ENST00000373876	T;T	0.06768	3.26;3.26	4.22	4.22	0.49857	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.19725	0.0474	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.70227	0.968	T	0.06303	-1.0834	9	0.13108	T	0.6	.	15.348	0.74355	0.0:1.0:0.0:0.0	.	1642	O75147	OBSL1_HUMAN	K	1642;1550	ENSP00000385636:E1642K;ENSP00000362983:E1550K	ENSP00000362983:E1550K	E	-	1	0	OBSL1	220126605	0.999000	0.42202	0.992000	0.48379	0.980000	0.70556	4.767000	0.62286	2.198000	0.70561	0.561000	0.74099	GAG	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.622	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220418361	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.998	T
OBSL1	23363	genome.wustl.edu	37	2	220420784	220420784	+	Missense_Mutation	SNP	C	C	G	rs368547852		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:220420784C>G	ENST00000404537.1	-	14	4623	c.4567G>C	c.(4567-4569)Gag>Cag	p.E1523Q	OBSL1_ENST00000265317.5_Missense_Mutation_p.E422Q|OBSL1_ENST00000373876.1_Missense_Mutation_p.E1431Q|OBSL1_ENST00000603926.1_Missense_Mutation_p.E1523Q|OBSL1_ENST00000265318.4_Silent_p.A1389A	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1523	Ig-like 12.				cardiac myofibril assembly (GO:0055003)|cytoskeleton organization (GO:0007010)|Golgi organization (GO:0007030)|microtubule cytoskeleton organization (GO:0000226)|positive regulation of dendrite morphogenesis (GO:0050775)|protein localization to Golgi apparatus (GO:0034067)|regulation of mitosis (GO:0007088)	3M complex (GO:1990393)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|M band (GO:0031430)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	cytoskeletal adaptor activity (GO:0008093)						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		TGGTGGCTCTCGCAGCCGTAG	0.632																																																	0													39.0	43.0	42.0					2																	220420784		2113	4228	6341	SO:0001583	missense	23363			BC007201	CCDS46520.1, CCDS54433.1, CCDS63134.1	2q35	2013-01-29			ENSG00000124006	ENSG00000124006		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29092	protein-coding gene	gene with protein product		610991				9734811	Standard	NM_015311		Approved	KIAA0657	uc010fwk.3	O75147	OTTHUMG00000059157	ENST00000404537.1:c.4567G>C	2.37:g.220420784C>G	ENSP00000385636:p.Glu1523Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A4KVA4|A4KVA5|Q96IW3|S4R3M6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.E1523Q	ENST00000404537.1	37	c.4567	CCDS46520.1	2	.	.	.	.	.	.	.	.	.	.	C	13.56	2.274506	0.40194	.	.	ENSG00000124006	ENST00000404537;ENST00000373876;ENST00000265317	T;T;T	0.65732	-0.17;-0.17;-0.17	4.39	3.42	0.39159	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.61324	0.2338	N	0.20986	0.625	0.80722	D	1	D;P;D;D	0.63880	0.993;0.787;0.982;0.982	D;P;D;P	0.65140	0.928;0.719;0.932;0.905	T	0.53344	-0.8452	9	0.15952	T	0.53	.	12.8486	0.57844	0.0:0.9068:0.0:0.0932	.	330;1524;1523;422	B7Z5P5;A4KVA4;O75147;E7ER99	.;.;OBSL1_HUMAN;.	Q	1523;1431;422	ENSP00000385636:E1523Q;ENSP00000362983:E1431Q;ENSP00000265317:E422Q	ENSP00000265317:E422Q	E	-	1	0	OBSL1	220129028	1.000000	0.71417	0.977000	0.42913	0.266000	0.26442	5.754000	0.68743	2.270000	0.75569	0.491000	0.48974	GAG	OBSL1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.632	OBSL1-014	KNOWN	basic|appris_principal|CCDS	protein_coding	OBSL1	HGNC	protein_coding	OTTHUMT00000322012.1	C			220420784	-1	no_errors	ENST00000404537	ensembl	human	known	70_37	missense	SNP	0.999	G
OCRL	4952	genome.wustl.edu	37	X	128722897	128722897	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:128722897C>G	ENST00000371113.4	+	22	2541	c.2376C>G	c.(2374-2376)ctC>ctG	p.L792L	OCRL_ENST00000357121.5_Silent_p.L784L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	792	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AAGCACTGCTCATTTTCTTGG	0.542																																																	0													120.0	97.0	105.0					X																	128722897		2203	4300	6503	SO:0001819	synonymous_variant	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.2376C>G	X.37:g.128722897C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Silent	SNP	pfam_Endo/exonuclease/phosphatase,pfam_RhoGAP_dom,superfamily_Endo/exonuclease/phosphatase,superfamily_Rho_GTPase_activation_prot,smart_IPPc,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.L792	ENST00000371113.4	37	c.2376	CCDS35393.1	X																																																																																			OCRL	-	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom		0.542	OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	OCRL	HGNC	protein_coding	OTTHUMT00000058917.1	C	NM_000276		128722897	+1	no_errors	ENST00000371113	ensembl	human	known	70_37	silent	SNP	1.000	G
OLFML3	56944	genome.wustl.edu	37	1	114523274	114523274	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:114523274C>G	ENST00000320334.4	+	2	474				OLFML3_ENST00000491700.1_3'UTR|OLFML3_ENST00000369551.1_Intron|OLFML3_ENST00000393300.2_Intron	NM_020190.2	NP_064575.1	Q9NRN5	OLFL3_HUMAN	olfactomedin-like 3						multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)|vesicle (GO:0031982)				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|skin(2)|urinary_tract(1)	14	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAACTCTTCTCAGAACCGATA	0.463																																																	0													37.0	42.0	40.0					1																	114523274		2203	4300	6503	SO:0001627	intron_variant	56944			AF201945	CCDS870.1, CCDS65618.1, CCDS72839.1	1p13.1	2008-02-05			ENSG00000116774	ENSG00000116774			24956	protein-coding gene	gene with protein product		610088					Standard	NM_001286353		Approved	HNOEL-iso, OLF44	uc001eer.1	Q9NRN5	OTTHUMG00000011980	ENST00000320334.4:c.400+35C>G	1.37:g.114523274C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FR1|Q53HV9|Q5SQL6|Q69AX9|Q8NBJ2	RNA	SNP	-	NULL	ENST00000320334.4	37	NULL	CCDS870.1	1																																																																																			OLFML3	-	-		0.463	OLFML3-011	KNOWN	basic|appris_principal|CCDS	protein_coding	OLFML3	HGNC	protein_coding	OTTHUMT00000033119.1	C	NM_020190		114523274	+1	no_errors	ENST00000491700	ensembl	human	known	70_37	rna	SNP	0.001	G
ONECUT2	9480	genome.wustl.edu	37	18	55103898	55103898	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:55103898C>A	ENST00000491143.2	+	1	982	c.950C>A	c.(949-951)tCg>tAg	p.S317*	AC090340.1_ENST00000581316.1_RNA	NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	317	Poly-Ser.				cell fate commitment (GO:0045165)|cilium assembly (GO:0042384)|endocrine pancreas development (GO:0031018)|epithelial cell development (GO:0002064)|liver development (GO:0001889)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|organ morphogenesis (GO:0009887)|peripheral nervous system neuron development (GO:0048935)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)	nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGGCCACCCTCGTCCTCATCG	0.667																																																	0													15.0	20.0	18.0					18																	55103898		2015	4165	6180	SO:0001587	stop_gained	9480			Y18198	CCDS42440.1	18q21.31	2012-03-09	2007-07-16		ENSG00000119547	ENSG00000119547		"""Homeoboxes / CUT class"""	8139	protein-coding gene	gene with protein product		604894	"""one cut domain, family member 2"""			9915796	Standard	NM_004852		Approved	OC-2	uc002lgo.3	O95948	OTTHUMG00000159776	ENST00000491143.2:c.950C>A	18.37:g.55103898C>A	ENSP00000419185:p.Ser317*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.S317*	ENST00000491143.2	37	c.950	CCDS42440.1	18	.	.	.	.	.	.	.	.	.	.	C	36	5.759955	0.96898	.	.	ENSG00000119547	ENST00000491143;ENST00000262095	.	.	.	4.55	4.55	0.56014	.	0.150608	0.45606	D	0.000351	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.3822	13.1737	0.59613	0.0:1.0:0.0:0.0	.	.	.	.	X	298;317	.	ENSP00000262095:S317X	S	+	2	0	ONECUT2	53254896	1.000000	0.71417	0.995000	0.50966	0.914000	0.54420	3.245000	0.51407	2.277000	0.76020	0.455000	0.32223	TCG	ONECUT2	-	superfamily_Lambda_DNA-bd_dom		0.667	ONECUT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ONECUT2	HGNC	protein_coding	OTTHUMT00000357264.3	C			55103898	+1	no_errors	ENST00000262095	ensembl	human	known	70_37	nonsense	SNP	1.000	A
OPCML	4978	genome.wustl.edu	37	11	133402239	133402239	+	5'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:133402239C>T	ENST00000524381.1	-	0	175				OPCML_ENST00000529038.1_5'UTR	NM_001012393.1	NP_001012393.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like						cell adhesion (GO:0007155)|neuron recognition (GO:0008038)|opioid receptor signaling pathway (GO:0038003)	anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	opioid receptor activity (GO:0004985)			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		GCGGTGCTCTCAGCTGCCGGG	0.572																																																	0													80.0	59.0	66.0					11																	133402239		2201	4297	6498	SO:0001623	5_prime_UTR_variant	4978			BX537377	CCDS8492.1, CCDS31722.1	11q25	2013-01-11	2001-11-28		ENSG00000183715	ENSG00000183715		"""Immunoglobulin superfamily / I-set domain containing"""	8143	protein-coding gene	gene with protein product	"""IgLON family member 1"""	600632	"""opioid-binding protein/cell adhesion molecule-like"""			8244387	Standard	XM_005271578		Approved	OPCM, OBCAM, IGLON1	uc001qgs.3	Q14982	OTTHUMG00000163658	ENST00000524381.1:c.-20G>A	11.37:g.133402239C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2CZX2|B7ZLQ1|Q17RN7|Q7Z3W6	RNA	SNP	-	NULL	ENST00000524381.1	37	NULL	CCDS31722.1	11																																																																																			OPCML	-	-		0.572	OPCML-003	KNOWN	basic|CCDS	protein_coding	OPCML	HGNC	protein_coding	OTTHUMT00000393269.1	C	NM_001012393		133402239	-1	no_errors	ENST00000529038	ensembl	human	known	70_37	rna	SNP	0.312	T
OPLAH	26873	genome.wustl.edu	37	8	145114648	145114648	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145114648G>A	ENST00000426825.1	-	3	298	c.217C>T	c.(217-219)Cat>Tat	p.H73Y	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	73					glutathione biosynthetic process (GO:0006750)|glutathione derivative biosynthetic process (GO:1901687)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	5-oxoprolinase (ATP-hydrolyzing) activity (GO:0017168)|ATP binding (GO:0005524)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGGCGATATGACTGGAGTCC	0.692																																																	0													24.0	32.0	29.0					8																	145114648		2171	4252	6423	SO:0001583	missense	26873			AF024672, AB122018	CCDS75802.1	8q24.3	2010-11-23			ENSG00000178814	ENSG00000178814	3.5.2.9		8149	protein-coding gene	gene with protein product		614243				14993790	Standard	NM_017570		Approved	OPLA, 5-Opase	uc003zar.3	O14841		ENST00000426825.1:c.217C>T	8.37:g.145114648G>A	ENSP00000475943:p.His73Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY8|Q75W65|Q9Y4Q0	RNA	SNP	-	NULL	ENST00000426825.1	37	NULL		8	.	.	.	.	.	.	.	.	.	.	G	8.251	0.808991	0.16537	.	.	ENSG00000178814	ENST00000426825	.	.	.	5.24	4.3	0.51218	Hydantoinaseoxoprolinase, N-terminal (1);	0.311236	0.33127	N	0.005252	T	0.41073	0.1143	.	.	.	0.24462	N	0.994432	B	0.02656	0.0	B	0.01281	0.0	T	0.51880	-0.8649	7	0.49607	T	0.09	.	10.2663	0.43457	0.0:0.0:0.6828:0.3172	.	73	O14841	OPLA_HUMAN	Y	73	.	ENSP00000412071:H73Y	H	-	1	0	OPLAH	145186636	0.997000	0.39634	0.369000	0.25952	0.077000	0.17291	4.435000	0.59941	2.450000	0.82876	0.462000	0.41574	CAT	OPLAH	-	-		0.692	OPLAH-201	KNOWN	basic|appris_principal	protein_coding	OPLAH	HGNC	protein_coding		G	NM_017570		145114648	-1	no_errors	ENST00000426825	ensembl	human	known	70_37	rna	SNP	0.163	A
OPN3	23596	genome.wustl.edu	37	1	241753449	241753449	+	IGR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:241753449G>A	ENST00000366554.2	-	0	2620				KMO_ENST00000366558.3_Intron|KMO_ENST00000366559.4_Intron|KMO_ENST00000366557.4_Intron	NM_014322.2	NP_055137.2	Q9H1Y3	OPN3_HUMAN	opsin 3						detection of light stimulus (GO:0009583)|detection of visible light (GO:0009584)|G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|large_intestine(5)|lung(5)	11	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCCTCATTTTGATTTTCTGTT	0.388																																																	0													104.0	103.0	103.0					1																	241753449		2203	4300	6503	SO:0001628	intergenic_variant	23596			AF140242	CCDS31072.1	1q43	2014-06-13	2008-04-16		ENSG00000054277	ENSG00000054277		"""GPCR / Class A : Opsin receptors"""	14007	protein-coding gene	gene with protein product	"""panopsin"", ""protein phosphatase 1, regulatory subunit 116"""	606695	"""encephalopsin"""	ECPN		10234000, 11401433	Standard	NM_014322		Approved	ERO, NMO-1, encephalopsin, PPP1R116	uc001hza.3	Q9H1Y3	OTTHUMG00000039691		1.37:g.241753449G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IX08|Q9Y344	RNA	SNP	-	NULL	ENST00000366554.2	37	NULL	CCDS31072.1	1																																																																																			OPN3	-	-		0.388	OPN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OPN3	HGNC	protein_coding	OTTHUMT00000095713.1	G	NM_014322		241753449	-1	no_errors	ENST00000462265	ensembl	human	known	70_37	rna	SNP	0.000	A
OPRM1	4988	genome.wustl.edu	37	6	154412492	154412492	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:154412492G>T	ENST00000330432.7	+	3	1286	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I	OPRM1_ENST00000452687.2_Missense_Mutation_p.R350I|OPRM1_ENST00000435918.2_Missense_Mutation_p.R350I|OPRM1_ENST00000518759.1_Missense_Mutation_p.R269I|OPRM1_ENST00000229768.5_Missense_Mutation_p.R350I|OPRM1_ENST00000524163.1_Missense_Mutation_p.R350I|OPRM1_ENST00000360422.4_Missense_Mutation_p.R350I|OPRM1_ENST00000414028.2_Missense_Mutation_p.R350I|OPRM1_ENST00000522555.1_Missense_Mutation_p.R250I|OPRM1_ENST00000337049.4_Missense_Mutation_p.R350I|OPRM1_ENST00000428397.2_Missense_Mutation_p.R350I|OPRM1_ENST00000522236.1_Missense_Mutation_p.R250I|OPRM1_ENST00000419506.2_Missense_Mutation_p.R350I|OPRM1_ENST00000434900.2_Missense_Mutation_p.R443I|OPRM1_ENST00000520708.1_Missense_Mutation_p.R250I	NM_000914.3	NP_000905.3	P35372	OPRM_HUMAN	opioid receptor, mu 1	350					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavioral response to ethanol (GO:0048149)|calcium ion transmembrane transport (GO:0070588)|cellular response to stress (GO:0033554)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|locomotory behavior (GO:0007626)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of Wnt protein secretion (GO:0061358)|neuropeptide signaling pathway (GO:0007218)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neurogenesis (GO:0050769)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-endorphin receptor activity (GO:0004979)|G-protein alpha-subunit binding (GO:0001965)|G-protein coupled receptor activity (GO:0004930)|morphine receptor activity (GO:0038047)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Alvimopan(DB06274)|Amitriptyline(DB00321)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Ethylmorphine(DB01466)|Fentanyl(DB00813)|Heroin(DB01452)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Methylnaltrexone(DB06800)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Ondansetron(DB00904)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Pethidine(DB00454)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	CGATGCTTCAGAGAGTTCTGT	0.458																																																	0													93.0	91.0	92.0					6																	154412492		1947	4138	6085	SO:0001583	missense	4988			L29301	CCDS43517.1, CCDS43518.1, CCDS47503.1, CCDS47504.1, CCDS47505.1, CCDS47506.1, CCDS47507.1, CCDS47508.1, CCDS55071.1, CCDS55068.1, CCDS55069.1, CCDS55070.1	6q24-q25	2012-08-08			ENSG00000112038	ENSG00000112038		"""GPCR / Class A : Opioid receptors"""	8156	protein-coding gene	gene with protein product		600018					Standard	NM_001145285		Approved	MOR1	uc003qpo.1	P35372	OTTHUMG00000015870	ENST00000330432.7:c.1049G>T	6.37:g.154412492G>T	ENSP00000328264:p.Arg350Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B0FXJ1|B2R9S7|B8Q1L7|B8Q1L8|B8Q1L9|E7EWZ3|G8XRH6|G8XRH8|Q12930|Q4VWM1|Q4VWM2|Q4VWM3|Q4VWM4|Q4VWM6|Q4VWX6|Q5TDA1|Q6UPP1|Q6UQ80|Q7Z2D8|Q86V80|Q8IWW3|Q8IWW4|Q9UCZ4|Q9UN57	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mu_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_W_rcpt,prints_P2_purnocptor,prints_NPY_rcpt	p.R443I	ENST00000330432.7	37	c.1328	CCDS55070.1	6	.	.	.	.	.	.	.	.	.	.	G	28.6	4.935802	0.92458	.	.	ENSG00000112038	ENST00000434900;ENST00000520708;ENST00000518759;ENST00000330432;ENST00000360422;ENST00000428397;ENST00000452687;ENST00000229768;ENST00000419506;ENST00000524163;ENST00000414028;ENST00000435918;ENST00000337049;ENST00000522555;ENST00000522236	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.39056	1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1;1.1	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.61615	0.2361	M	0.70595	2.14	0.80722	D	1	P;P;P;D;D;P;P;P;D;D;D;P	0.59357	0.953;0.909;0.796;0.976;0.985;0.868;0.559;0.953;0.984;0.977;0.985;0.796	P;P;P;P;D;P;P;D;P;P;D;P	0.70016	0.831;0.897;0.897;0.89;0.967;0.757;0.474;0.935;0.86;0.867;0.935;0.897	T	0.61118	-0.7127	10	0.87932	D	0	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	350;350;350;350;443;269;250;350;350;350;350;350	P35372-4;P35372-8;P35372-11;P35372-9;P35372-10;B8Q1L9;Q6UPP1;P35372-5;P35372;P35372-7;P35372-3;P35372-2	.;.;.;.;.;.;.;.;OPRM_HUMAN;.;.;.	I	443;250;269;350;350;350;350;350;350;350;350;350;350;250;250	ENSP00000394624:R443I;ENSP00000430876:R250I;ENSP00000430260:R269I;ENSP00000328264:R350I;ENSP00000353598:R350I;ENSP00000411903:R350I;ENSP00000410497:R350I;ENSP00000229768:R350I;ENSP00000403549:R350I;ENSP00000430097:R350I;ENSP00000399359:R350I;ENSP00000413752:R350I;ENSP00000338381:R350I;ENSP00000429719:R250I;ENSP00000429373:R250I	ENSP00000229768:R350I	R	+	2	0	OPRM1	154454185	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.062000	0.89475	2.937000	0.99478	0.650000	0.86243	AGA	OPRM1	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Somatstn_rcpt		0.458	OPRM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPRM1	HGNC	protein_coding	OTTHUMT00000042786.2	G	NM_000914		154412492	+1	no_errors	ENST00000434900	ensembl	human	known	70_37	missense	SNP	1.000	T
OR10R2	343406	genome.wustl.edu	37	1	158449973	158449973	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:158449973C>T	ENST00000368152.1	+	1	306	c.306C>T	c.(304-306)ctC>ctT	p.L102L	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	102						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCAAGATGCTCATCAATCTAC	0.443																																																	0													335.0	286.0	303.0					1																	158449973		2203	4300	6503	SO:0001819	synonymous_variant	343406			AB065640	CCDS30898.1	1q23.1	2012-08-09			ENSG00000198965	ENSG00000198965		"""GPCR / Class A : Olfactory receptors"""	14820	protein-coding gene	gene with protein product							Standard	NM_001004472		Approved	OR10R2Q	uc010pik.2	Q8NGX6	OTTHUMG00000019632	ENST00000368152.1:c.306C>T	1.37:g.158449973C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWM8|Q6IFS1|Q96R61	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L102	ENST00000368152.1	37	c.306	CCDS30898.1	1																																																																																			OR10R2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.443	OR10R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10R2	HGNC	protein_coding	OTTHUMT00000051847.2	C	NM_001004472		158449973	+1	no_errors	ENST00000368152	ensembl	human	known	70_37	silent	SNP	0.003	T
OR10J5	127385	genome.wustl.edu	37	1	159505756	159505756	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:159505756G>A	ENST00000334857.2	-	1	86	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	14						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAAATCCCAAGAAAATGAATT	0.363																																																	0													69.0	69.0	69.0					1																	159505756		2203	4300	6503	SO:0001819	synonymous_variant	127385				CCDS30910.1	1q23.2	2012-08-09			ENSG00000184155	ENSG00000184155		"""GPCR / Class A : Olfactory receptors"""	14993	protein-coding gene	gene with protein product							Standard	NM_001004469		Approved		uc010piw.2	Q8NHC4	OTTHUMG00000022738	ENST00000334857.2:c.42C>T	1.37:g.159505756G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH35|Q6IFH2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F14	ENST00000334857.2	37	c.42	CCDS30910.1	1																																																																																			OR10J5	-	NULL		0.363	OR10J5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10J5	HGNC	protein_coding	OTTHUMT00000059021.1	G	NM_001004469		159505756	-1	no_errors	ENST00000334857	ensembl	human	known	70_37	silent	SNP	0.619	A
OR13F1	138805	genome.wustl.edu	37	9	107267221	107267221	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:107267221G>C	ENST00000334726.2	+	1	767	c.678G>C	c.(676-678)ctG>ctC	p.L226L		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	226						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGTATCCTGAGAATCAGCT	0.483																																																	0													225.0	204.0	211.0					9																	107267221		2203	4300	6503	SO:0001819	synonymous_variant	138805				CCDS35087.1	9q31.1	2013-09-24			ENSG00000186881	ENSG00000186881		"""GPCR / Class A : Olfactory receptors"""	14723	protein-coding gene	gene with protein product							Standard	NM_001004485		Approved		uc011lvm.2	Q8NGS4	OTTHUMG00000020404	ENST00000334726.2:c.678G>C	9.37:g.107267221G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF50	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L226	ENST00000334726.2	37	c.678	CCDS35087.1	9																																																																																			OR13F1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.483	OR13F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13F1	HGNC	protein_coding	OTTHUMT00000053475.1	G			107267221	+1	no_errors	ENST00000334726	ensembl	human	known	70_37	silent	SNP	0.034	C
OR2T10	127069	genome.wustl.edu	37	1	248756599	248756599	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:248756599G>A	ENST00000330500.2	-	1	501	c.471C>T	c.(469-471)ttC>ttT	p.F157F	Y_RNA_ENST00000364732.1_RNA	NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	157						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGTGAGCATGAAGCCATCCA	0.537																																																	0													111.0	118.0	115.0					1																	248756599		2049	4235	6284	SO:0001819	synonymous_variant	127069				CCDS31121.1	1q44	2012-08-09			ENSG00000184022	ENSG00000184022		"""GPCR / Class A : Olfactory receptors"""	19573	protein-coding gene	gene with protein product							Standard	NM_001004693		Approved		uc010pzn.2	Q8NGZ9	OTTHUMG00000040388	ENST00000330500.2:c.471C>T	1.37:g.248756599G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNK7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F157	ENST00000330500.2	37	c.471	CCDS31121.1	1																																																																																			OR2T10	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.537	OR2T10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2T10	HGNC	protein_coding	OTTHUMT00000097139.1	G	NM_001004693		248756599	-1	no_errors	ENST00000330500	ensembl	human	known	70_37	silent	SNP	0.002	A
OR4L1	122742	genome.wustl.edu	37	14	20528220	20528220	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:20528220G>C	ENST00000315683.1	+	1	17	c.17G>C	c.(16-18)gGa>gCa	p.G6A		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	6						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		CTTAAAAATGGATCTCTAGTG	0.328																																																	0													118.0	127.0	124.0					14																	20528220		2203	4300	6503	SO:0001583	missense	122742				CCDS32029.1	14q11.2	2013-09-23			ENSG00000176246	ENSG00000176246		"""GPCR / Class A : Olfactory receptors"""	15356	protein-coding gene	gene with protein product				OR4L2P			Standard	NM_001004717		Approved		uc001vwn.1	Q8NH43	OTTHUMG00000169492	ENST00000315683.1:c.17G>C	14.37:g.20528220G>C	ENSP00000319217:p.Gly6Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEZ5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.G6A	ENST00000315683.1	37	c.17	CCDS32029.1	14	.	.	.	.	.	.	.	.	.	.	.	4.158	0.027737	0.08054	.	.	ENSG00000176246	ENST00000315683	T	0.00500	6.96	3.28	-1.9	0.07665	.	1.192960	0.06197	N	0.682411	T	0.00300	0.0009	N	0.12611	0.24	0.09310	N	1	B	0.13145	0.007	B	0.14578	0.011	T	0.36601	-0.9741	10	0.41790	T	0.15	.	4.8202	0.13387	0.5374:0.1736:0.289:0.0	.	6	Q8NH43	OR4L1_HUMAN	A	6	ENSP00000319217:G6A	ENSP00000319217:G6A	G	+	2	0	OR4L1	19598060	0.000000	0.05858	0.058000	0.19502	0.903000	0.53119	-1.484000	0.02316	-0.411000	0.07530	0.639000	0.83563	GGA	OR4L1	-	NULL		0.328	OR4L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4L1	HGNC	protein_coding	OTTHUMT00000404381.1	G			20528220	+1	no_errors	ENST00000315683	ensembl	human	known	70_37	missense	SNP	0.017	C
OR51D1	390038	genome.wustl.edu	37	11	4661593	4661593	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:4661593C>A	ENST00000357605.2	+	1	649	c.573C>A	c.(571-573)ttC>ttA	p.F191L		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACACTCCTTCTGTCTGCACC	0.488																																																	0													289.0	243.0	259.0					11																	4661593		2201	4298	6499	SO:0001583	missense	390038			AB065855	CCDS31357.1	11p15.4	2012-08-09			ENSG00000197428	ENSG00000197428		"""GPCR / Class A : Olfactory receptors"""	15193	protein-coding gene	gene with protein product							Standard	NM_001004751		Approved	OR51D1Q	uc010qyk.2	Q8NGF3	OTTHUMG00000165724	ENST00000357605.2:c.573C>A	11.37:g.4661593C>A	ENSP00000350222:p.Phe191Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIK4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F191L	ENST00000357605.2	37	c.573	CCDS31357.1	11	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084836	0.36758	.	.	ENSG00000197428	ENST00000357605	T	0.00346	8.01	4.29	2.41	0.29592	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000246	T	0.00412	0.0013	L	0.46885	1.475	0.33968	D	0.646478	D	0.56746	0.977	P	0.57548	0.823	T	0.70777	-0.4780	10	0.87932	D	0	.	9.205	0.37285	0.0:0.8193:0.0:0.1807	.	191	Q8NGF3	O51D1_HUMAN	L	191	ENSP00000350222:F191L	ENSP00000350222:F191L	F	+	3	2	OR51D1	4618169	0.682000	0.27624	0.959000	0.39883	0.002000	0.02628	0.365000	0.20348	0.547000	0.28938	-0.251000	0.11542	TTC	OR51D1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.488	OR51D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51D1	HGNC	protein_coding	OTTHUMT00000385956.1	C	NM_001004751		4661593	+1	no_errors	ENST00000357605	ensembl	human	known	70_37	missense	SNP	0.997	A
OR52A5	390054	genome.wustl.edu	37	11	5153017	5153017	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:5153017C>T	ENST00000307388.1	-	1	855	c.856G>A	c.(856-858)Gtc>Atc	p.V286I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	286					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		AAAGGTGGGACTAACAGGTAA	0.378																																																	0													143.0	138.0	140.0					11																	5153017		2201	4298	6499	SO:0001583	missense	390054			BK004433	CCDS31373.1	11p15.4	2012-08-09			ENSG00000171944	ENSG00000171944		"""GPCR / Class A : Olfactory receptors"""	19580	protein-coding gene	gene with protein product							Standard	NM_001005160		Approved		uc010qyx.2	Q9H2C5	OTTHUMG00000066616	ENST00000307388.1:c.856G>A	11.37:g.5153017C>T	ENSP00000303469:p.Val286Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V286I	ENST00000307388.1	37	c.856	CCDS31373.1	11	.	.	.	.	.	.	.	.	.	.	C	13.66	2.302532	0.40795	.	.	ENSG00000171944	ENST00000307388	T	0.00256	8.42	4.85	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43579	D	0.000555	T	0.00271	0.0008	L	0.52573	1.65	0.09310	N	1	P	0.42692	0.787	P	0.53760	0.734	T	0.50693	-0.8798	10	0.33141	T	0.24	.	4.7907	0.13247	0.1776:0.6485:0.0:0.1739	.	286	Q9H2C5	O52A5_HUMAN	I	286	ENSP00000303469:V286I	ENSP00000303469:V286I	V	-	1	0	OR52A5	5109593	0.000000	0.05858	0.993000	0.49108	0.854000	0.48673	-0.763000	0.04740	2.499000	0.84300	0.655000	0.94253	GTC	OR52A5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.378	OR52A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52A5	HGNC	protein_coding	OTTHUMT00000142823.1	C	NM_001005160		5153017	-1	no_errors	ENST00000307388	ensembl	human	known	70_37	missense	SNP	0.077	T
OR51B5	282763	genome.wustl.edu	37	11	5364101	5364101	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:5364101C>G	ENST00000300773.2	-	1	708	c.654G>C	c.(652-654)ttG>ttC	p.L218F	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	218					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTTGAGTATCAACACATAGG	0.463																																																	0													110.0	109.0	109.0					11																	5364101		2201	4297	6498	SO:0001583	missense	282763			BK004430	CCDS31378.1	11p15.4	2012-08-09			ENSG00000242180	ENSG00000242180		"""GPCR / Class A : Olfactory receptors"""	19599	protein-coding gene	gene with protein product							Standard	NM_001005567		Approved		uc001maq.2	Q9H339	OTTHUMG00000066676	ENST00000300773.2:c.654G>C	11.37:g.5364101C>G	ENSP00000300773:p.Leu218Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN59	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L218F	ENST00000300773.2	37	c.654	CCDS31378.1	11	.	.	.	.	.	.	.	.	.	.	C	13.91	2.377683	0.42105	.	.	ENSG00000242180	ENST00000300773	T	0.00107	8.72	4.92	0.456	0.16655	GPCR, rhodopsin-like superfamily (1);	0.000000	0.33057	N	0.005322	T	0.00210	0.0006	L	0.61036	1.89	0.19575	N	0.999966	P	0.51057	0.941	P	0.55011	0.766	T	0.47661	-0.9100	10	0.39692	T	0.17	.	0.6319	0.00796	0.1706:0.3128:0.1668:0.3498	.	218	Q9H339	O51B5_HUMAN	F	218	ENSP00000300773:L218F	ENSP00000300773:L218F	L	-	3	2	OR51B5	5320677	0.000000	0.05858	0.787000	0.31911	0.965000	0.64279	-0.715000	0.04997	0.228000	0.21019	0.650000	0.86243	TTG	OR51B5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.463	OR51B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51B5	HGNC	protein_coding	OTTHUMT00000142975.1	C	NM_001005567		5364101	-1	no_errors	ENST00000300773	ensembl	human	known	70_37	missense	SNP	0.011	G
OR5L2	26338	genome.wustl.edu	37	11	55594997	55594997	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:55594997C>T	ENST00000378397.1	+	1	303	c.303C>T	c.(301-303)ttC>ttT	p.F101F		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TGGTGCAATTCTACTTGTTTT	0.468										HNSCC(27;0.073)																																							0													187.0	177.0	181.0					11																	55594997		2200	4296	6496	SO:0001819	synonymous_variant	26338			AB065782	CCDS31511.1	11q11	2012-08-09			ENSG00000205030	ENSG00000205030		"""GPCR / Class A : Olfactory receptors"""	8351	protein-coding gene	gene with protein product						1370859	Standard	NM_001004739		Approved	HTPCRX16, HSHTPCRX16	uc001nhy.1	Q8NGL0	OTTHUMG00000166812	ENST00000378397.1:c.303C>T	11.37:g.55594997C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF66|Q96RB2	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F101	ENST00000378397.1	37	c.303	CCDS31511.1	11																																																																																			OR5L2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt		0.468	OR5L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5L2	HGNC	protein_coding	OTTHUMT00000391516.1	C	NM_001004739		55594997	+1	no_errors	ENST00000378397	ensembl	human	known	70_37	silent	SNP	0.989	T
OR5B3	441608	genome.wustl.edu	37	11	58170013	58170013	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:58170013C>G	ENST00000309403.2	-	1	869	c.870G>C	c.(868-870)ctG>ctC	p.L290L		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	290						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CCTTGTTCCTCAGACTATAGA	0.448																																																	0													147.0	124.0	132.0					11																	58170013		2201	4295	6496	SO:0001819	synonymous_variant	441608			AB065545	CCDS31549.1	11q12.1	2012-08-09			ENSG00000172769	ENSG00000172769		"""GPCR / Class A : Olfactory receptors"""	8324	protein-coding gene	gene with protein product				OR5B13			Standard	NM_001005469		Approved	OST129	uc010rkf.2	Q8NH48	OTTHUMG00000167516	ENST00000309403.2:c.870G>C	11.37:g.58170013C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IEV6	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L290	ENST00000309403.2	37	c.870	CCDS31549.1	11																																																																																			OR5B3	-	pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.448	OR5B3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5B3	HGNC	protein_coding	OTTHUMT00000394886.1	C	NM_001005469		58170013	-1	no_errors	ENST00000309403	ensembl	human	known	70_37	silent	SNP	0.985	G
OR5AN1	390195	genome.wustl.edu	37	11	59132687	59132687	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:59132687C>A	ENST00000313940.2	+	1	803	c.756C>A	c.(754-756)ttC>ttA	p.F252L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	252						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TTTCCCTCTTCTATACATCAG	0.428																																																	0													196.0	187.0	190.0					11																	59132687		2201	4295	6496	SO:0001583	missense	390195			AB065806	CCDS31559.1	11q12.1	2012-08-09			ENSG00000176495	ENSG00000176495		"""GPCR / Class A : Olfactory receptors"""	15255	protein-coding gene	gene with protein product		615702					Standard	NM_001004729		Approved		uc010rks.2	Q8NGI8	OTTHUMG00000167337	ENST00000313940.2:c.756C>A	11.37:g.59132687C>A	ENSP00000320302:p.Phe252Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EIS2|Q6IEV4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F252L	ENST00000313940.2	37	c.756	CCDS31559.1	11	.	.	.	.	.	.	.	.	.	.	C	15.34	2.805840	0.50421	.	.	ENSG00000176495	ENST00000313940	T	0.00285	8.3	4.51	-4.35	0.03656	GPCR, rhodopsin-like superfamily (1);	0.000000	0.53938	D	0.000042	T	0.00356	0.0011	L	0.60845	1.875	0.09310	N	1	D	0.76494	0.999	D	0.83275	0.996	T	0.48811	-0.9002	10	0.48119	T	0.1	-48.0265	4.4313	0.11529	0.2445:0.2926:0.0:0.4628	.	252	Q8NGI8	O5AN1_HUMAN	L	252	ENSP00000320302:F252L	ENSP00000320302:F252L	F	+	3	2	OR5AN1	58889263	0.118000	0.22208	0.002000	0.10522	0.913000	0.54294	-0.696000	0.05104	-1.034000	0.03295	0.655000	0.94253	TTC	OR5AN1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.428	OR5AN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5AN1	HGNC	protein_coding	OTTHUMT00000394231.1	C	NM_001004729		59132687	+1	no_errors	ENST00000313940	ensembl	human	known	70_37	missense	SNP	0.002	A
OR6S1	341799	genome.wustl.edu	37	14	21109728	21109728	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:21109728C>G	ENST00000320704.3	-	1	122	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	41						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CATTGCCTGTCAGATTCAGGA	0.478																																																	0													97.0	94.0	95.0					14																	21109728		2203	4300	6503	SO:0001819	synonymous_variant	341799			AL163636	CCDS32038.1	14q11.2	2013-09-24			ENSG00000181803	ENSG00000181803		"""GPCR / Class A : Olfactory receptors"""	15363	protein-coding gene	gene with protein product							Standard	NM_001001968		Approved	OR6S1Q	uc001vxv.1	Q8NH40	OTTHUMG00000171010	ENST00000320704.3:c.123G>C	14.37:g.21109728C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFJ9	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L41	ENST00000320704.3	37	c.123	CCDS32038.1	14																																																																																			OR6S1	-	prints_GPCR_Rhodpsn		0.478	OR6S1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	OR6S1	HGNC	protein_coding	OTTHUMT00000411227.1	C			21109728	-1	no_errors	ENST00000320704	ensembl	human	known	70_37	silent	SNP	0.027	G
OR8D1	283159	genome.wustl.edu	37	11	124180503	124180503	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:124180503G>C	ENST00000357821.2	-	1	230	c.160C>G	c.(160-162)Cta>Gta	p.L54V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTGTGAAGTAGAGGGCTGACT	0.512																																																	0													100.0	94.0	96.0					11																	124180503		2201	4299	6500	SO:0001583	missense	283159			AF238489	CCDS31706.1	11q25	2012-08-09			ENSG00000196341	ENSG00000196341		"""GPCR / Class A : Olfactory receptors"""	8481	protein-coding gene	gene with protein product				OR8D3			Standard	NM_001002917		Approved	OST004	uc010sag.2	Q8WZ84	OTTHUMG00000165977	ENST00000357821.2:c.160C>G	11.37:g.124180503G>C	ENSP00000350474:p.Leu54Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNL4|Q6IEW1|Q8NGH0	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L54V	ENST00000357821.2	37	c.160	CCDS31706.1	11	.	.	.	.	.	.	.	.	.	.	g	12.39	1.924173	0.34002	.	.	ENSG00000196341	ENST00000357821	T	0.01084	5.36	4.29	2.24	0.28232	GPCR, rhodopsin-like superfamily (1);	0.277119	0.18667	U	0.134577	T	0.00906	0.0030	N	0.19112	0.55	0.09310	N	1	B	0.23128	0.08	B	0.23275	0.045	T	0.49293	-0.8955	10	0.87932	D	0	.	3.8219	0.08839	0.0876:0.1457:0.5608:0.2059	.	54	Q8WZ84	OR8D1_HUMAN	V	54	ENSP00000350474:L54V	ENSP00000350474:L54V	L	-	1	2	OR8D1	123685713	0.000000	0.05858	0.001000	0.08648	0.602000	0.36980	-0.173000	0.09854	0.324000	0.23333	0.508000	0.49915	CTA	OR8D1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM		0.512	OR8D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8D1	HGNC	protein_coding	OTTHUMT00000387285.1	G	NM_001002917		124180503	-1	no_errors	ENST00000357821	ensembl	human	known	70_37	missense	SNP	0.000	C
OR8B8	26493	genome.wustl.edu	37	11	124310324	124310324	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:124310324G>C	ENST00000328064.2	-	1	730	c.658C>G	c.(658-660)Ctc>Gtc	p.L220V		NM_012378.1	NP_036510.1	Q15620	OR8B8_HUMAN	olfactory receptor, family 8, subfamily B, member 8	220					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GAGAGAATGAGAGCATAGGAA	0.483																																																	0													182.0	158.0	166.0					11																	124310324		2201	4299	6500	SO:0001583	missense	26493			AF238488	CCDS8446.1	11q24.2	2012-08-09			ENSG00000197125	ENSG00000197125		"""GPCR / Class A : Olfactory receptors"""	8477	protein-coding gene	gene with protein product						9119360	Standard	NM_012378		Approved	TPCR85	uc010sal.2	Q15620	OTTHUMG00000165917	ENST00000328064.2:c.658C>G	11.37:g.124310324G>C	ENSP00000330280:p.Leu220Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L446|Q96RC8	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L220V	ENST00000328064.2	37	c.658	CCDS8446.1	11	.	.	.	.	.	.	.	.	.	.	G	6.261	0.416234	0.11870	.	.	ENSG00000197125	ENST00000328064	T	0.00130	8.69	3.67	2.75	0.32379	GPCR, rhodopsin-like superfamily (1);	0.674219	0.11903	N	0.518472	T	0.00144	0.0004	L	0.28115	0.83	0.24187	N	0.995561	B	0.17268	0.021	B	0.27170	0.077	T	0.23655	-1.0182	10	0.72032	D	0.01	.	7.552	0.27802	0.0934:0.1677:0.7388:0.0	.	220	Q15620	OR8B8_HUMAN	V	220	ENSP00000330280:L220V	ENSP00000330280:L220V	L	-	1	0	OR8B8	123815534	0.000000	0.05858	0.999000	0.59377	0.293000	0.27360	-0.344000	0.07780	1.115000	0.41800	0.557000	0.71058	CTC	OR8B8	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	OR8B8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B8	HGNC	protein_coding	OTTHUMT00000387056.1	G	NM_012378		124310324	-1	no_errors	ENST00000328064	ensembl	human	putative	70_37	missense	SNP	0.719	C
ORC2	4999	genome.wustl.edu	37	2	201791584	201791584	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:201791584C>T	ENST00000234296.2	-	12	1206	c.957G>A	c.(955-957)aaG>aaA	p.K319K	RN7SL694P_ENST00000584245.1_RNA	NM_006190.4	NP_006181.1	Q13416	ORC2_HUMAN	origin recognition complex, subunit 2	319					DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	condensed chromosome inner kinetochore (GO:0000939)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)|plasma membrane (GO:0005886)	DNA replication origin binding (GO:0003688)			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	20						GTAAATCTCTCTTAGAACCCA	0.363																																																	0													110.0	102.0	105.0					2																	201791584		2203	4300	6503	SO:0001819	synonymous_variant	4999				CCDS2334.1	2q33	2010-10-12	2010-10-12	2010-10-12	ENSG00000115942	ENSG00000115942			8488	protein-coding gene	gene with protein product		601182	"""origin recognition complex, subunit 2 (yeast homolog)-like"", ""origin recognition complex, subunit 2-like (yeast)"", ""origin recognition complex, subunit 2 homolog (yeast)"""	ORC2L		8808289	Standard	NM_006190		Approved		uc002uwr.3	Q13416	OTTHUMG00000132783	ENST00000234296.2:c.957G>A	2.37:g.201791584C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13204|Q53TX5	Silent	SNP	pfam_ORC2	p.K319	ENST00000234296.2	37	c.957	CCDS2334.1	2																																																																																			ORC2	-	pfam_ORC2		0.363	ORC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORC2	HGNC	protein_coding	OTTHUMT00000256191.2	C	NM_006190		201791584	-1	no_errors	ENST00000234296	ensembl	human	known	70_37	silent	SNP	1.000	T
OSBPL5	114879	genome.wustl.edu	37	11	3114171	3114171	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:3114171C>G	ENST00000263650.7	-	18	2217	c.2058G>C	c.(2056-2058)gaG>gaC	p.E686D	OSBPL5_ENST00000478260.1_Missense_Mutation_p.E140D|OSBPL5_ENST00000348039.5_Missense_Mutation_p.E618D|OSBPL5_ENST00000525498.1_Missense_Mutation_p.E597D|OSBPL5_ENST00000389989.3_Missense_Mutation_p.E618D|OSBPL5_ENST00000542243.1_Missense_Mutation_p.E317D	NM_020896.3	NP_065947.1	Q9H0X9	OSBL5_HUMAN	oxysterol binding protein-like 5	686					cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|Golgi to plasma membrane transport (GO:0006893)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	cholesterol binding (GO:0015485)|oxysterol binding (GO:0008142)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	25		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GCATGAGGCTCTCCTGCCGCT	0.657																																																	0													43.0	34.0	37.0					11																	3114171		2191	4288	6479	SO:0001583	missense	114879			AF392453	CCDS31343.1, CCDS31344.1	11p15.4	2013-01-10			ENSG00000021762	ENSG00000021762		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	16392	protein-coding gene	gene with protein product		606733					Standard	NM_145638		Approved	KIAA1534, ORP5	uc001lxk.2	Q9H0X9	OTTHUMG00000011702	ENST00000263650.7:c.2058G>C	11.37:g.3114171C>G	ENSP00000263650:p.Glu686Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDP0|A6NJS8|Q54A90|Q8N596|Q9BZB0|Q9P1Z4	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E686D	ENST00000263650.7	37	c.2058	CCDS31344.1	11	.	.	.	.	.	.	.	.	.	.	C	4.297	0.054279	0.08291	.	.	ENSG00000021762	ENST00000478260;ENST00000263650;ENST00000389989;ENST00000534454;ENST00000525498;ENST00000542243;ENST00000348039;ENST00000357352	T;T;T;T;T;T;T	0.35973	1.28;1.28;1.28;1.28;1.28;1.28;1.28	4.06	3.15	0.36227	.	0.262165	0.31859	N	0.006949	T	0.27349	0.0671	L	0.47190	1.495	0.29594	N	0.848213	B;B;B	0.10296	0.001;0.003;0.001	B;B;B	0.12837	0.008;0.008;0.008	T	0.15206	-1.0445	10	0.25106	T	0.35	-7.4775	7.2402	0.26092	0.0:0.7205:0.0:0.2795	.	597;618;686	B4DVB0;Q8N596;Q9H0X9	.;.;OSBL5_HUMAN	D	140;686;618;239;597;317;618;305	ENSP00000437141:E140D;ENSP00000263650:E686D;ENSP00000374639:E618D;ENSP00000431412:E239D;ENSP00000433342:E597D;ENSP00000441551:E317D;ENSP00000302872:E618D	ENSP00000263650:E686D	E	-	3	2	OSBPL5	3070747	0.993000	0.37304	0.637000	0.29366	0.006000	0.05464	1.126000	0.31344	0.923000	0.37045	-0.291000	0.09656	GAG	OSBPL5	-	pfam_Oxysterol-bd		0.657	OSBPL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSBPL5	HGNC	protein_coding	OTTHUMT00000032332.2	C			3114171	-1	no_errors	ENST00000263650	ensembl	human	known	70_37	missense	SNP	0.742	G
OTOA	146183	genome.wustl.edu	37	16	21721391	21721391	+	Silent	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:21721391C>A	ENST00000286149.4	+	12	1330	c.1329C>A	c.(1327-1329)atC>atA	p.I443I	OTOA_ENST00000388958.3_Silent_p.I429I|OTOA_ENST00000388956.4_Silent_p.I350I|OTOA_ENST00000388957.3_Silent_p.I105I			Q7RTW8	OTOAN_HUMAN	otoancorin	443					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCAGGTCATCATCTTGTCTG	0.517																																																	0													68.0	56.0	60.0					16																	21721391		2199	4300	6499	SO:0001819	synonymous_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1329C>A	16.37:g.21721391C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Silent	SNP	NULL	p.I443	ENST00000286149.4	37	c.1329		16																																																																																			OTOA	-	NULL		0.517	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	C			21721391	+1	no_errors	ENST00000286149	ensembl	human	known	70_37	silent	SNP	1.000	A
OTUD7B	56957	genome.wustl.edu	37	1	149919220	149919220	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:149919220C>G	ENST00000369135.4	-	11	1549	c.1255G>C	c.(1255-1257)Gag>Cag	p.E419Q		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU deubiquitinase 7B	419	Catalytic.				mucosal immune response (GO:0002385)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	cysteine-type peptidase activity (GO:0008234)|DNA binding (GO:0003677)|Lys48-specific deubiquitinase activity (GO:1990380)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			AATTTGACCTCTAGGGACAGA	0.428																																																	0													99.0	93.0	95.0					1																	149919220		1896	4118	6014	SO:0001583	missense	56957			AJ293573	CCDS72903.1	1q21.2	2014-02-24	2014-02-24	2006-07-07	ENSG00000163113	ENSG00000264522		"""OTU domain containing"""	16683	protein-coding gene	gene with protein product		611748	"""zinc finger, A20 domain containing 1"", ""OTU domain containing 7B"""	ZA20D1		11463333, 23827681	Standard	NM_020205		Approved	CEZANNE	uc001etn.3	Q6GQQ9	OTTHUMG00000012291	ENST00000369135.4:c.1255G>C	1.37:g.149919220C>G	ENSP00000358131:p.Glu419Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z643|D3DUZ8|Q5SZ60|Q8WWA7|Q9NQ53|Q9UFF4	Missense_Mutation	SNP	pfam_OTU,superfamily_UBA-like,smart_Znf_A20,pfscan_OTU,pfscan_Znf_A20	p.E419Q	ENST00000369135.4	37	c.1255	CCDS41389.1	1	.	.	.	.	.	.	.	.	.	.	C	26.3	4.720112	0.89205	.	.	ENSG00000163113	ENST00000369135;ENST00000543330;ENST00000417191	T;T	0.35236	1.32;1.35	5.22	5.22	0.72569	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.73962	2.25	0.80722	D	1	D	0.89917	1.0	D	0.72625	0.978	T	0.51537	-0.8693	9	.	.	.	-27.2435	17.951	0.89053	0.0:1.0:0.0:0.0	.	419	Q6GQQ9	OTU7B_HUMAN	Q	419	ENSP00000358131:E419Q;ENSP00000408231:E419Q	.	E	-	1	0	OTUD7B	148185844	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.285000	0.78660	2.722000	0.93159	0.557000	0.71058	GAG	OTUD7B	-	NULL		0.428	OTUD7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OTUD7B	HGNC	protein_coding	OTTHUMT00000034146.3	C	NM_020205		149919220	-1	no_errors	ENST00000369135	ensembl	human	known	70_37	missense	SNP	1.000	G
POLR2I	5438	genome.wustl.edu	37	19	36602321	36602321	+	IGR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:36602321G>A	ENST00000221859.4	-	0	913				OVOL3_ENST00000586670.1_5'Flank|OVOL3_ENST00000262637.4_Missense_Mutation_p.D49N	NM_006233.4	NP_006224.1	P36954	RPB9_HUMAN	polymerase (RNA) II (DNA directed) polypeptide I, 14.5kDa						7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|maintenance of transcriptional fidelity during DNA-templated transcription elongation from RNA polymerase II promoter (GO:0001193)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(1)|ovary(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CAGTGTCAGGGATCCGTGGAC	0.602																																																	0																																										SO:0001628	intergenic_variant	728361				CCDS12487.1	19q13.12	2013-10-17	2002-08-29		ENSG00000105258	ENSG00000105258	2.7.7.6	"""RNA polymerase subunits"""	9196	protein-coding gene	gene with protein product		180662	"""polymerase (RNA) II (DNA directed) polypeptide I (14.5kD)"""			8034326	Standard	NM_006233		Approved	RPB9, hRPB14.5	uc002ode.3	P36954	OTTHUMG00000181749		19.37:g.36602321G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5J2|Q6NW05	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D49N	ENST00000221859.4	37	c.145	CCDS12487.1	19	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041284	0.35989	.	.	ENSG00000105261	ENST00000262637	T	0.10477	2.87	4.03	4.03	0.46877	.	0.000000	0.38005	N	0.001853	T	0.11879	0.0289	L	0.28192	0.835	0.20638	N	0.99988	.	.	.	.	.	.	T	0.10019	-1.0648	8	0.66056	D	0.02	-2.2169	11.9795	0.53111	0.0:0.0:1.0:0.0	.	.	.	.	N	49	ENSP00000262637:D49N	ENSP00000262637:D49N	D	+	1	0	AD001527.1	41294161	0.942000	0.31987	0.658000	0.29665	0.022000	0.10575	2.352000	0.44080	2.544000	0.85801	0.650000	0.86243	GAT	OVOL3	-	NULL		0.602	POLR2I-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OVOL3	HGNC	protein_coding	OTTHUMT00000457442.1	G	NM_006233		36602321	+1	no_errors	ENST00000262637	ensembl	human	known	70_37	missense	SNP	0.669	A
OXGR1	27199	genome.wustl.edu	37	13	97639486	97639486	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:97639486G>C	ENST00000298440.1	-	4	771	c.528C>G	c.(526-528)aaC>aaG	p.N176K	OXGR1_ENST00000543457.1_Missense_Mutation_p.N176K	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	176					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TGTTGGTCCTGTTGGTTGATG	0.463																																																	0													145.0	109.0	121.0					13																	97639486		2203	4300	6503	SO:0001583	missense	27199			AF411109	CCDS9482.1	13q32.2	2014-04-09	2004-07-08	2004-07-09	ENSG00000165621	ENSG00000165621		"""GPCR / Class A : Orphans"""	4531	protein-coding gene	gene with protein product	"""2-oxoglutarate receptor 1"", ""alpha-ketoglutarate receptor 1"""	606922	"""G protein-coupled receptor 80"""	GPR99, GPR80		15141213, 12098360	Standard	NM_080818		Approved	P2RY15, P2Y15, aKGR	uc001vmx.1	Q96P68	OTTHUMG00000017236	ENST00000298440.1:c.528C>G	13.37:g.97639486G>C	ENSP00000298440:p.Asn176Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T5A7|Q86TL1	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.N176K	ENST00000298440.1	37	c.528	CCDS9482.1	13	.	.	.	.	.	.	.	.	.	.	G	0.208	-1.039369	0.02013	.	.	ENSG00000165621	ENST00000298440;ENST00000543457	T;T	0.40225	1.04;1.04	5.87	1.76	0.24704	GPCR, rhodopsin-like superfamily (1);	0.360437	0.17134	U	0.185721	T	0.16811	0.0404	N	0.05306	-0.075	0.09310	N	1	B	0.15719	0.014	B	0.21151	0.033	T	0.30995	-0.9959	10	0.06236	T	0.91	.	7.0375	0.25000	0.0636:0.2252:0.5251:0.1861	.	176	Q96P68	OXGR1_HUMAN	K	176	ENSP00000298440:N176K;ENSP00000438800:N176K	ENSP00000298440:N176K	N	-	3	2	OXGR1	96437487	0.000000	0.05858	0.956000	0.39512	0.799000	0.45148	0.023000	0.13533	0.365000	0.24400	0.655000	0.94253	AAC	OXGR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.463	OXGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OXGR1	HGNC	protein_coding	OTTHUMT00000045521.3	G	NM_080818		97639486	-1	no_errors	ENST00000298440	ensembl	human	known	70_37	missense	SNP	0.000	C
P2RX4	5025	genome.wustl.edu	37	12	121647982	121647982	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:121647982C>T	ENST00000337233.4	+	1	323	c.15C>T	c.(13-15)tgC>tgT	p.C5C	P2RX4_ENST00000541532.1_Silent_p.C5C|P2RX4_ENST00000359949.7_Silent_p.C5C|P2RX4_ENST00000540930.1_3'UTR|P2RX4_ENST00000543171.1_5'UTR	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	5					apoptotic signaling pathway (GO:0097190)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular response to ATP (GO:0071318)|endothelial cell activation (GO:0042118)|ion transmembrane transport (GO:0034220)|membrane depolarization (GO:0051899)|negative regulation of cardiac muscle hypertrophy (GO:0010614)|neuronal action potential (GO:0019228)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction (GO:0055117)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sodium ion transport (GO:0002028)|relaxation of cardiac muscle (GO:0055119)|response to ATP (GO:0033198)|response to fluid shear stress (GO:0034405)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|tissue homeostasis (GO:0001894)|transport (GO:0006810)|vasodilation (GO:0042311)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|terminal bouton (GO:0043195)	ATP binding (GO:0005524)|cadherin binding (GO:0045296)|copper ion binding (GO:0005507)|drug binding (GO:0008144)|extracellular ATP-gated cation channel activity (GO:0004931)|protein homodimerization activity (GO:0042803)|purinergic nucleotide receptor activity (GO:0001614)|receptor binding (GO:0005102)|zinc ion binding (GO:0008270)			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGGGCTGCTGCGCCGCGCTGG	0.726																																																	0													8.0	9.0	9.0					12																	121647982		2093	4149	6242	SO:0001819	synonymous_variant	5025			Y07684	CCDS9214.1, CCDS58282.1	12q24.32	2012-01-17			ENSG00000135124	ENSG00000135124		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8535	protein-coding gene	gene with protein product		600846				9016352	Standard	NM_002560		Approved	P2X4	uc031qjt.1	Q99571	OTTHUMG00000169155	ENST00000337233.4:c.15C>T	12.37:g.121647982C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EPF7|F6RU17|O00450|O14722|Q5U089|Q5U090|Q8N4N1|Q9UBG9	Silent	SNP	pfam_P2X_purnocptor,prints_P2X4_purnocptor,prints_P2X_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor	p.C5	ENST00000337233.4	37	c.15	CCDS9214.1	12																																																																																			P2RX4	-	prints_P2X4_purnocptor,prints_P2X1_purnocptor,tigrfam_P2X_purnocptor		0.726	P2RX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RX4	HGNC	protein_coding	OTTHUMT00000402545.1	C	NM_175567		121647982	+1	no_errors	ENST00000337233	ensembl	human	known	70_37	silent	SNP	0.554	T
P2RY1	5028	genome.wustl.edu	37	3	152554066	152554066	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:152554066G>C	ENST00000305097.3	+	1	1331	c.495G>C	c.(493-495)aaG>aaC	p.K165N		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	165					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|aging (GO:0007568)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cell surface receptor signaling pathway (GO:0007166)|eating behavior (GO:0042755)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of binding (GO:0051100)|negative regulation of norepinephrine secretion (GO:0010700)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|platelet activation (GO:0030168)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of hormone secretion (GO:0046887)|positive regulation of inositol trisphosphate biosynthetic process (GO:0032962)|positive regulation of ion transport (GO:0043270)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to plasma membrane (GO:0072659)|regulation of receptor activity (GO:0010469)|regulation of vasodilation (GO:0042312)|relaxation of muscle (GO:0090075)|response to growth factor (GO:0070848)|response to mechanical stimulus (GO:0009612)|sensory perception of pain (GO:0019233)|signal transduction involved in regulation of gene expression (GO:0023019)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ADP binding (GO:0043531)|ADP-activated nucleotide receptor activity (GO:0045032)|ATP binding (GO:0005524)|ATP-activated nucleotide receptor activity (GO:0045031)|G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)|scaffold protein binding (GO:0097110)			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GGCTCAAAAAGAAGAATGCGA	0.542																																																	0													137.0	110.0	120.0					3																	152554066		2203	4300	6503	SO:0001583	missense	5028			U42029	CCDS3169.1	3q25.2	2012-08-08			ENSG00000169860	ENSG00000169860		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8539	protein-coding gene	gene with protein product		601167				8579591	Standard	NM_002563		Approved	P2Y1	uc003ezq.3	P47900	OTTHUMG00000159694	ENST00000305097.3:c.495G>C	3.37:g.152554066G>C	ENSP00000304767:p.Lys165Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2Y_purnocptor,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.K165N	ENST00000305097.3	37	c.495	CCDS3169.1	3	.	.	.	.	.	.	.	.	.	.	G	14.10	2.434290	0.43224	.	.	ENSG00000169860	ENST00000305097	T	0.73575	-0.76	5.76	4.88	0.63580	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.73776	0.3630	L	0.41356	1.27	0.58432	D	0.999999	D	0.53462	0.96	P	0.52386	0.697	T	0.69525	-0.5122	10	0.16420	T	0.52	.	15.7863	0.78306	0.0:0.1364:0.8636:0.0	.	165	P47900	P2RY1_HUMAN	N	165	ENSP00000304767:K165N	ENSP00000304767:K165N	K	+	3	2	P2RY1	154036756	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.713000	0.61895	1.386000	0.46466	0.655000	0.94253	AAG	P2RY1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.542	P2RY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	P2RY1	HGNC	protein_coding	OTTHUMT00000356943.1	G	NM_002563		152554066	+1	no_errors	ENST00000305097	ensembl	human	known	70_37	missense	SNP	1.000	C
PAG1	55824	genome.wustl.edu	37	8	81883062	81883062	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:81883062G>A	ENST00000220597.4	-	0	7726				PAG1_ENST00000523463.1_5'UTR	NM_018440.3	NP_060910.3	Q9NWQ8	PHAG1_HUMAN	phosphoprotein membrane anchor with glycosphingolipid microdomains 1						epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular signal transduction (GO:0035556)|negative regulation of T cell activation (GO:0050868)|positive regulation of signal transduction (GO:0009967)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell receptor signaling pathway (GO:0050852)	integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	SH2 domain binding (GO:0042169)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGCTGTGACGAGGCATGGTT	0.537																																																	0																																										SO:0001624	3_prime_UTR_variant	55824			AF240634	CCDS6227.1	8q21.13	2014-04-30	2014-04-30						30043	protein-coding gene	gene with protein product	"""Csk-binding protein"", ""transmembrane adaptor protein PAG"""	605767	"""phosphoprotein associated with glycosphingolipid microdomains 1"""			10790433	Standard	XM_006716461		Approved	PAG, CBP	uc003ybz.3	Q9NWQ8		ENST00000220597.4:c.*5717C>T	8.37:g.81883062G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1A3|Q2M1Z9|Q5BKU4|Q9NYK0	RNA	SNP	-	NULL	ENST00000220597.4	37	NULL	CCDS6227.1	8																																																																																			PAG1	-	-		0.537	PAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAG1	HGNC	protein_coding	OTTHUMT00000379352.3	G	NM_018440		81883062	-1	no_errors	ENST00000523463	ensembl	human	known	70_37	rna	SNP	0.001	A
PAIP1	10605	genome.wustl.edu	37	5	43527498	43527498	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:43527498C>T	ENST00000306846.3	-	11	1652	c.1420G>A	c.(1420-1422)Gag>Aag	p.E474K	RP11-159F24.5_ENST00000504277.1_RNA|PAIP1_ENST00000436644.2_Missense_Mutation_p.E395K|PAIP1_ENST00000338972.4_Missense_Mutation_p.E362K|PAIP1_ENST00000514514.1_3'UTR	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	474	PABPC1-interacting motif-1 (PAM1).				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA stabilization (GO:0048255)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	RNA binding (GO:0003723)|translation activator activity (GO:0008494)			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					CGCTTACGCTCTGATTCCAAA	0.338																																																	0													65.0	60.0	62.0					5																	43527498		2202	4289	6491	SO:0001583	missense	10605			AF013758	CCDS3947.1, CCDS3948.1, CCDS47204.1	5p12	2008-02-05			ENSG00000172239	ENSG00000172239			16945	protein-coding gene	gene with protein product		605184				9548260, 11230166	Standard	NM_006451		Approved		uc003job.3	Q9H074	OTTHUMG00000096960	ENST00000306846.3:c.1420G>A	5.37:g.43527498C>T	ENSP00000302768:p.Glu474Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKV8|O60455|Q96B61|Q9BS63	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Ataxin-2_C,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.E474K	ENST00000306846.3	37	c.1420	CCDS3947.1	5	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588043	0.86851	.	.	ENSG00000172239	ENST00000306846;ENST00000436644;ENST00000338972	T;T;T	0.37411	1.2;1.28;1.32	5.61	5.61	0.85477	.	0.057678	0.64402	D	0.000002	T	0.40322	0.1112	L	0.27053	0.805	0.80722	D	1	D;P	0.55172	0.97;0.932	P;P	0.51833	0.681;0.655	T	0.09037	-1.0693	10	0.37606	T	0.19	-13.7702	19.6383	0.95746	0.0:1.0:0.0:0.0	.	474;395	Q9H074;Q9H074-2	PAIP1_HUMAN;.	K	474;395;362	ENSP00000302768:E474K;ENSP00000387729:E395K;ENSP00000339622:E362K	ENSP00000302768:E474K	E	-	1	0	PAIP1	43563255	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.053000	0.76641	2.631000	0.89168	0.655000	0.94253	GAG	PAIP1	-	NULL		0.338	PAIP1-001	KNOWN	basic|CCDS	protein_coding	PAIP1	HGNC	protein_coding	OTTHUMT00000214024.1	C	NM_006451		43527498	-1	no_errors	ENST00000306846	ensembl	human	known	70_37	missense	SNP	1.000	T
PALLD	23022	genome.wustl.edu	37	4	169837137	169837137	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:169837137C>G	ENST00000505667.1	+	17	2982	c.2809C>G	c.(2809-2811)Ctg>Gtg	p.L937V	PALLD_ENST00000261509.6_Missense_Mutation_p.L920V|PALLD_ENST00000507735.1_Missense_Mutation_p.L433V|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000512127.1_Missense_Mutation_p.L538V|PALLD_ENST00000335742.7_Missense_Mutation_p.L762V			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1144					cytoskeleton organization (GO:0007010)	actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	muscle alpha-actinin binding (GO:0051371)			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCCTGGAGATCTGACTGTTCA	0.448									Pancreatic Cancer, Familial Clustering of																												Esophageal Squamous(109;1482 1532 18347 40239 51172)												0													97.0	102.0	100.0					4																	169837137		2203	4300	6503	SO:0001583	missense	23022	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1	AB023209	CCDS34098.1, CCDS54818.1, CCDS54819.1, CCDS54820.1	4q32.3	2013-01-11			ENSG00000129116	ENSG00000129116		"""Immunoglobulin superfamily / I-set domain containing"""	17068	protein-coding gene	gene with protein product		608092				10231032, 10931874	Standard	NM_001166108		Approved	KIAA0992, SIH002, CGI-151	uc011cjx.2	Q8WX93	OTTHUMG00000161097	ENST00000505667.1:c.2809C>G	4.37:g.169837137C>G	ENSP00000425556:p.Leu937Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTG2|B5MD56|B7ZMM5|Q7L3E0|Q7Z3W0|Q86WE8|Q8N1M2|Q9UGA0|Q9UQF5|Q9Y2J6|Q9Y3E9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L920V	ENST00000505667.1	37	c.2758	CCDS54818.1	4	.	.	.	.	.	.	.	.	.	.	C	17.02	3.283202	0.59867	.	.	ENSG00000129116	ENST00000261509;ENST00000335742;ENST00000505667;ENST00000512127;ENST00000507735	T;T;T;T;T	0.63417	-0.04;-0.04;-0.04;-0.04;-0.04	5.68	5.68	0.88126	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.26503	U	0.024008	T	0.53738	0.1815	N	0.03029	-0.43	0.80722	D	1	D;D;P;D	0.67145	0.996;0.978;0.953;0.996	P;P;P;P	0.61070	0.883;0.622;0.672;0.883	T	0.53995	-0.8359	10	0.07813	T	0.8	.	19.7942	0.96472	0.0:1.0:0.0:0.0	.	937;1144;538;920	B7ZMM5;Q8WX93;B3KTG2;B2RTX2	.;PALLD_HUMAN;.;.	V	920;762;937;538;433	ENSP00000261509:L920V;ENSP00000336735:L762V;ENSP00000425556:L937V;ENSP00000426947:L538V;ENSP00000424016:L433V	ENSP00000261509:L920V	L	+	1	2	PALLD	170073712	0.998000	0.40836	0.997000	0.53966	0.977000	0.68977	2.594000	0.46189	2.684000	0.91462	0.313000	0.20887	CTG	PALLD	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.448	PALLD-002	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	PALLD	HGNC	protein_coding	OTTHUMT00000363762.1	C	NM_016081		169837137	+1	no_errors	ENST00000261509	ensembl	human	known	70_37	missense	SNP	1.000	G
PAPOLG	64895	genome.wustl.edu	37	2	61018984	61018984	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:61018984C>T	ENST00000238714.3	+	16	1734	c.1485C>T	c.(1483-1485)taC>taT	p.Y495Y		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	495					mRNA polyadenylation (GO:0006378)|RNA polyadenylation (GO:0043631)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|polynucleotide adenylyltransferase activity (GO:0004652)|RNA binding (GO:0003723)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			TTCACCACTACCTTCCTGCAG	0.343																																					GBM(183;1497 2932 21839 46797)												0													86.0	85.0	85.0					2																	61018984		2203	4300	6503	SO:0001819	synonymous_variant	64895			AC012498	CCDS1863.1	2p16.1	2008-02-08			ENSG00000115421	ENSG00000115421	2.7.7.19		14982	protein-coding gene	gene with protein product							Standard	NM_022894		Approved	FLJ12972	uc002sai.3	Q9BWT3	OTTHUMG00000129419	ENST00000238714.3:c.1485C>T	2.37:g.61018984C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBH4|Q59G05|Q969N1|Q9H8L2|Q9HAD0	Silent	SNP	pfam_PolA_pol_cen_dom,pfam_PolA_pol_RNA-bd_dom,pfam_Nucleotidyltransferase,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase	p.Y495	ENST00000238714.3	37	c.1485	CCDS1863.1	2																																																																																			PAPOLG	-	pfam_PolA_pol_RNA-bd_dom,superfamily_NuclTrfase_I_C,pirsf_PolyA_polymerase		0.343	PAPOLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPOLG	HGNC	protein_coding	OTTHUMT00000251577.3	C	NM_022894		61018984	+1	no_errors	ENST00000238714	ensembl	human	known	70_37	silent	SNP	1.000	T
PAPPA2	60676	genome.wustl.edu	37	1	176564181	176564181	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:176564181C>T	ENST00000367662.3	+	3	2605	c.1441C>T	c.(1441-1443)Ctc>Ttc	p.L481F	PAPPA2_ENST00000367661.3_Missense_Mutation_p.L481F	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	481	Metalloprotease.				bone morphogenesis (GO:0060349)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|proteolysis (GO:0006508)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(7)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(19)|lung(136)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|upper_aerodigestive_tract(8)|urinary_tract(1)	226						ACTTGAGGTTCTCCAGGGCTT	0.532																																																	0													77.0	79.0	78.0					1																	176564181		1980	4163	6143	SO:0001583	missense	60676			BG354569	CCDS41438.1, CCDS41439.1	1q23-q25	2008-05-23	2004-07-07	2004-07-09	ENSG00000116183	ENSG00000116183			14615	protein-coding gene	gene with protein product			"""placenta-specific 3"""	PLAC3		11018262, 11264294	Standard	NM_021936		Approved	PAPPE, PAPP-A2	uc001gkz.3	Q9BXP8	OTTHUMG00000035025	ENST00000367662.3:c.1441C>T	1.37:g.176564181C>T	ENSP00000356634:p.Leu481Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A9Z1Y8|Q96PH7|Q96PH8|Q9H4C9	Missense_Mutation	SNP	pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt	p.L481F	ENST00000367662.3	37	c.1441	CCDS41438.1	1	.	.	.	.	.	.	.	.	.	.	C	2.719	-0.266950	0.05754	.	.	ENSG00000116183	ENST00000367662;ENST00000367661	T;T	0.33865	4.61;1.39	5.18	4.25	0.50352	.	0.425407	0.17270	N	0.180412	T	0.25531	0.0621	L	0.34521	1.04	0.23391	N	0.997774	B;B	0.16396	0.004;0.017	B;B	0.13407	0.005;0.009	T	0.14783	-1.0460	10	0.32370	T	0.25	-13.3805	7.6349	0.28261	0.2738:0.648:0.0:0.0782	.	481;481	Q9BXP8;A9Z1Y8	PAPP2_HUMAN;.	F	481	ENSP00000356634:L481F;ENSP00000356633:L481F	ENSP00000356633:L481F	L	+	1	0	PAPPA2	174830804	0.006000	0.16342	0.996000	0.52242	0.093000	0.18481	1.470000	0.35354	1.144000	0.42321	0.650000	0.86243	CTC	PAPPA2	-	NULL		0.532	PAPPA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPPA2	HGNC	protein_coding	OTTHUMT00000084763.1	C			176564181	+1	no_errors	ENST00000367662	ensembl	human	known	70_37	missense	SNP	0.409	T
PARP8	79668	genome.wustl.edu	37	5	50128632	50128632	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:50128632delA	ENST00000281631.5	+	23	2409	c.2251delA	c.(2251-2253)aagfs	p.K751fs	PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514067.2_Frame_Shift_Del_p.K709fs|PARP8_ENST00000503750.2_Frame_Shift_Del_p.K709fs|PARP8_ENST00000505697.2_Frame_Shift_Del_p.K751fs|PARP8_ENST00000514342.2_Frame_Shift_Del_p.K462fs|PARP8_ENST00000505554.1_Frame_Shift_Del_p.K730fs	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	751	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					intracellular (GO:0005622)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				CAAGAAACAGAAGGTGTCAGC	0.418																																																	0													151.0	128.0	136.0					5																	50128632		2203	4300	6503	SO:0001589	frameshift_variant	79668			AL834477	CCDS3954.1, CCDS54849.1	5q11.2	2010-02-16			ENSG00000151883	ENSG00000151883		"""Poly (ADP-ribose) polymerases"""	26124	protein-coding gene	gene with protein product						15273990	Standard	NM_001178055		Approved	FLJ21308, pART16	uc003joo.3	Q8N3A8	OTTHUMG00000096969	ENST00000281631.5:c.2251delA	5.37:g.50128632delA	ENSP00000281631:p.Lys751fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KRB7|Q6DHZ1|Q9H754	Frame_Shift_Del	DEL	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.K751fs	ENST00000281631.5	37	c.2251	CCDS3954.1	5																																																																																			PARP8	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.418	PARP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP8	HGNC	protein_coding	OTTHUMT00000214035.3	A	NM_024615		50128632	+1	no_errors	ENST00000281631	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
PATE4	399968	genome.wustl.edu	37	11	125707802	125707802	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:125707802G>A	ENST00000457514.2	+	2	142	c.98G>A	c.(97-99)gGa>gAa	p.G33E	PATE4_ENST00000534411.1_Intron	NM_001144874.1	NP_001138346.1	P0C8F1	PATE4_HUMAN	prostate and testis expressed 4	33					regulation of synaptic transmission (GO:0050804)|response to wounding (GO:0009611)	acrosomal vesicle (GO:0001669)|extracellular space (GO:0005615)				breast(1)	1						TACACAGAAGGATGGAAGTGT	0.443																																																	0													96.0	90.0	92.0					11																	125707802		692	1591	2283	SO:0001583	missense	399968			AK123042	CCDS44765.1	11q24.2	2010-07-14			ENSG00000237353	ENSG00000237353		"""PATE family"""	35427	protein-coding gene	gene with protein product						18390568	Standard	NM_001144874		Approved	FLJ41047, PATE-B	uc001qcv.3	P0C8F1	OTTHUMG00000165235	ENST00000457514.2:c.98G>A	11.37:g.125707802G>A	ENSP00000411439:p.Gly33Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G33E	ENST00000457514.2	37	c.98	CCDS44765.1	11	.	.	.	.	.	.	.	.	.	.	g	8.697	0.908914	0.17833	.	.	ENSG00000237353	ENST00000457514	D	0.89939	-2.59	1.33	-0.0087	0.14004	.	.	.	.	.	T	0.76307	0.3969	.	.	.	0.09310	N	1	B	0.18968	0.032	B	0.08055	0.003	T	0.59198	-0.7499	8	0.24483	T	0.36	.	3.249	0.06807	0.6978:0.0:0.3022:0.0	.	33	P0C8F1	PATE4_HUMAN	E	33	ENSP00000411439:G33E	ENSP00000411439:G33E	G	+	2	0	PATE4	125213012	0.000000	0.05858	0.000000	0.03702	0.374000	0.29953	-0.143000	0.10296	-0.017000	0.14103	-0.382000	0.06688	GGA	PATE4	-	NULL		0.443	PATE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PATE4	HGNC	protein_coding	OTTHUMT00000382865.1	G	NM_001144874		125707802	+1	no_errors	ENST00000457514	ensembl	human	known	70_37	missense	SNP	0.000	A
PAX4	5078	genome.wustl.edu	37	7	127253524	127253524	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:127253524G>C	ENST00000341640.2	-	5	806	c.601C>G	c.(601-603)Ctg>Gtg	p.L201V	PAX4_ENST00000378740.2_Missense_Mutation_p.L201V|PAX4_ENST00000463946.1_Missense_Mutation_p.L199V|PAX4_ENST00000338516.3_Missense_Mutation_p.L209V	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	209					cell differentiation (GO:0030154)|circadian rhythm (GO:0007623)|endocrine pancreas development (GO:0031018)|negative regulation of apoptotic process (GO:0043066)|organ morphogenesis (GO:0009887)|positive regulation of cell differentiation (GO:0045597)|response to cAMP (GO:0051591)|response to drug (GO:0042493)|retina development in camera-type eye (GO:0060041)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCTCAGGCAGAGAGGTGGCA	0.582																																					Ovarian(113;737 1605 7858 27720 34092)												0													65.0	67.0	67.0					7																	127253524		2203	4300	6503	SO:0001583	missense	5078				CCDS5797.1	7q32.1	2011-06-20	2007-07-12		ENSG00000106331	ENSG00000106331		"""Paired boxes"", ""Homeoboxes / PRD class"""	8618	protein-coding gene	gene with protein product		167413	"""paired box gene 4"""				Standard	NM_006193		Approved	MODY9	uc010lld.1	O43316	OTTHUMG00000157562	ENST00000341640.2:c.601C>G	7.37:g.127253524G>C	ENSP00000339906:p.Leu201Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95161|Q6B0H0	Missense_Mutation	SNP	pfam_Paired_dom,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Paired_dom,smart_Homeodomain,pfscan_Homeodomain,pfscan_Paired_dom,prints_Paired_dom	p.L201V	ENST00000341640.2	37	c.601	CCDS5797.1	7	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776475	0.70107	.	.	ENSG00000106331	ENST00000341640;ENST00000338516;ENST00000378740;ENST00000463946	D;D;D	0.98207	-4.79;-4.79;-4.79	4.9	3.09	0.35607	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.103003	0.39210	N	0.001426	D	0.98409	0.9471	M	0.71920	2.185	0.44595	D	0.997567	D;D;D;D	0.89917	0.999;0.999;1.0;0.994	D;D;D;D	0.97110	0.991;0.994;1.0;0.943	D	0.98360	1.0548	10	0.87932	D	0	.	9.6417	0.39844	0.1755:0.0:0.8245:0.0	.	201;199;209;199	O43316-4;Q1W386;O43316;G3V4Q1	.;.;PAX4_HUMAN;.	V	201;209;209;199	ENSP00000339906:L201V;ENSP00000344297:L209V;ENSP00000451923:L199V	ENSP00000344297:L209V	L	-	1	2	PAX4	127040760	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.370000	0.52372	0.751000	0.32900	0.650000	0.86243	CTG	PAX4	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.582	PAX4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PAX4	HGNC	protein_coding	OTTHUMT00000349165.1	G			127253524	-1	no_errors	ENST00000341640	ensembl	human	known	70_37	missense	SNP	0.998	C
PCDH15	65217	genome.wustl.edu	37	10	55591180	55591180	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:55591180C>G	ENST00000320301.6	-	30	4491	c.4097G>C	c.(4096-4098)aGa>aCa	p.R1366T	PCDH15_ENST00000373965.2_Missense_Mutation_p.R1373T|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.R1366T|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.R1344T|PCDH15_ENST00000437009.1_Missense_Mutation_p.R1295T|PCDH15_ENST00000361849.3_Missense_Mutation_p.R1366T|PCDH15_ENST00000395432.2_Missense_Mutation_p.R1329T|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000414778.1_Missense_Mutation_p.R1371T|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000409834.1_Missense_Mutation_p.R977T|PCDH15_ENST00000395445.1_Missense_Mutation_p.R1373T|PCDH15_ENST00000395430.1_Missense_Mutation_p.R1366T|PCDH15_ENST00000395440.1_Intron	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1366					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				ACTTTCTCCTCTCTTTTTAAT	0.478										HNSCC(58;0.16)																																							0													258.0	220.0	233.0					10																	55591180		2203	4300	6503	SO:0001583	missense	65217			AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4097G>C	10.37:g.55591180C>G	ENSP00000322604:p.Arg1366Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R1366T	ENST00000320301.6	37	c.4097	CCDS7248.1	10	.	.	.	.	.	.	.	.	.	.	C	19.64	3.866091	0.71949	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.56611	0.52;0.56;0.51;0.51;0.47;0.47;0.45;0.48;0.46;0.45;0.46	5.75	4.75	0.60458	.	.	.	.	.	T	0.34019	0.0883	N	0.08118	0	0.33024	D	0.529264	P;P;P;B;P;P;P;B;B;B;B;B;P	0.41546	0.59;0.526;0.526;0.394;0.754;0.526;0.59;0.022;0.07;0.07;0.07;0.354;0.526	B;B;B;B;P;B;B;B;B;B;B;B;B	0.45913	0.334;0.179;0.179;0.119;0.497;0.179;0.334;0.053;0.076;0.076;0.076;0.179;0.179	T	0.35599	-0.9782	9	0.34782	T	0.22	.	4.0455	0.09771	0.0:0.6826:0.0:0.3174	.	1344;1366;1366;1371;1295;1329;1366;1366;1373;1373;1366;1371;1366	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	T	1373;1371;1366;1366;977;1373;1329;1366;1344;1366;1366;1371;1295	ENSP00000363076:R1373T;ENSP00000410304:R1371T;ENSP00000378826:R1366T;ENSP00000386693:R977T;ENSP00000378832:R1373T;ENSP00000378820:R1329T;ENSP00000354950:R1366T;ENSP00000378821:R1344T;ENSP00000322604:R1366T;ENSP00000378818:R1366T;ENSP00000412628:R1295T	ENSP00000322604:R1366T	R	-	2	0	PCDH15	55261186	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.076000	0.64413	2.709000	0.92574	0.585000	0.79938	AGA	PCDH15	-	NULL		0.478	PCDH15-001	KNOWN	basic|CCDS	protein_coding	PCDH15	HGNC	protein_coding	OTTHUMT00000048121.2	C	NM_033056		55591180	-1	no_errors	ENST00000320301	ensembl	human	known	70_37	missense	SNP	1.000	G
PCDHB10	56126	genome.wustl.edu	37	5	140573239	140573239	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:140573239G>A	ENST00000239446.4	+	1	1298	c.1114G>A	c.(1114-1116)Gac>Aac	p.D372N		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	372	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAAGATTAATGACAGAGACTC	0.408																																																	0													60.0	63.0	62.0					5																	140573239		2203	4300	6503	SO:0001583	missense	56126			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.1114G>A	5.37:g.140573239G>A	ENSP00000239446:p.Asp372Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96T99	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D372N	ENST00000239446.4	37	c.1114	CCDS4252.1	5	.	.	.	.	.	.	.	.	.	.	G	15.23	2.771741	0.49680	.	.	ENSG00000120324	ENST00000239446	T	0.61627	0.09	3.23	3.23	0.37069	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.86205	0.5877	H	0.99758	4.755	0.44937	D	0.997952	D	0.89917	1.0	D	0.97110	1.0	D	0.92406	0.5933	9	0.87932	D	0	.	14.6377	0.68702	0.0:0.0:1.0:0.0	.	372	Q9UN67	PCDBA_HUMAN	N	372	ENSP00000239446:D372N	ENSP00000239446:D372N	D	+	1	0	PCDHB10	140553423	1.000000	0.71417	0.777000	0.31699	0.154000	0.21943	7.681000	0.84073	1.824000	0.53156	0.556000	0.70494	GAC	PCDHB10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.408	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	G	NM_018930		140573239	+1	no_errors	ENST00000239446	ensembl	human	known	70_37	missense	SNP	0.929	A
PCDHGA3	56112	genome.wustl.edu	37	5	140724207	140724207	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:140724207G>C	ENST00000253812.6	+	1	607	c.607G>C	c.(607-609)Gag>Cag	p.E203Q	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	203	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGTGAGAAAAAAGA	0.537																																																	0													49.0	53.0	51.0					5																	140724207		2146	4269	6415	SO:0001583	missense	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.607G>C	5.37:g.140724207G>C	ENSP00000253812:p.Glu203Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y5D4	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E203Q	ENST00000253812.6	37	c.607	CCDS47290.1	5	.	.	.	.	.	.	.	.	.	.	.	17.67	3.447815	0.63178	.	.	ENSG00000254245	ENST00000253812	T	0.34859	1.34	5.65	5.65	0.86999	Cadherin (3);Cadherin-like (1);	0.000000	0.33515	U	0.004833	T	0.79112	0.4391	H	0.99516	4.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	D	0.87994	0.2751	10	0.87932	D	0	.	19.7068	0.96076	0.0:0.0:1.0:0.0	.	203;203	Q9Y5H0-2;Q9Y5H0	.;PCDG3_HUMAN	Q	203	ENSP00000253812:E203Q	ENSP00000253812:E203Q	E	+	1	0	PCDHGA3	140704391	1.000000	0.71417	0.984000	0.44739	0.352000	0.29268	9.695000	0.98691	2.824000	0.97209	0.655000	0.94253	GAG	PCDHGA3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.537	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	G	NM_018916		140724207	+1	no_errors	ENST00000253812	ensembl	human	known	70_37	missense	SNP	1.000	C
CFAP221	200373	genome.wustl.edu	37	2	120362840	120362840	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:120362840G>T	ENST00000413369.3	+	11	1195	c.1108G>T	c.(1108-1110)Gaa>Taa	p.E370*	PCDP1_ENST00000597189.1_3'UTR|PCDP1_ENST00000602047.1_Nonsense_Mutation_p.E84*	NM_001271049.1	NP_001257978																Colorectal(110;0.196)					GGACATTCACGAAGAGATGGA	0.378																																																	0													58.0	60.0	60.0					2																	120362840		2203	4300	6503	SO:0001587	stop_gained	200373																														ENST00000413369.3:c.1108G>T	2.37:g.120362840G>T	ENSP00000393222:p.Glu370*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E84*	ENST00000413369.3	37	c.250	CCDS33282.2	2	.	.	.	.	.	.	.	.	.	.	G	16.07	3.018817	0.54576	.	.	ENSG00000163075	ENST00000295220;ENST00000413369	.	.	.	5.22	3.43	0.39272	.	0.405345	0.23127	N	0.051621	.	.	.	.	.	.	0.54753	D	0.999987	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-7.7384	10.3569	0.43969	0.1596:0.0:0.8404:0.0	.	.	.	.	X	84;370	.	ENSP00000295220:E84X	E	+	1	0	AC069154.2	120079310	0.997000	0.39634	0.014000	0.15608	0.088000	0.18126	2.612000	0.46343	0.782000	0.33613	0.655000	0.94253	GAA	PCDP1	-	NULL		0.378	PCDP1-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCDP1	Uniprot_genename	protein_coding	OTTHUMT00000464236.1	G			120362840	+1	no_errors	ENST00000602047	ensembl	human	known	70_37	nonsense	SNP	0.683	T
PCM1	5108	genome.wustl.edu	37	8	17813125	17813125	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:17813125G>A	ENST00000519253.1	+	10	1686	c.1435G>A	c.(1435-1437)Gaa>Aaa	p.E479K	PCM1_ENST00000524226.1_Missense_Mutation_p.E479K|PCM1_ENST00000325083.8_Missense_Mutation_p.E479K|PCM1_ENST00000518537.1_Missense_Mutation_p.E518K			Q15154	PCM1_HUMAN	pericentriolar material 1	479					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GAATGAGAGTGAAAACGAAGG	0.368			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	0													93.0	86.0	88.0					8																	17813125		1877	4108	5985	SO:0001583	missense	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.1435G>A	8.37:g.17813125G>A	ENSP00000431099:p.Glu479Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Missense_Mutation	SNP	NULL	p.E479K	ENST00000519253.1	37	c.1435		8	.	.	.	.	.	.	.	.	.	.	G	26.1	4.703563	0.88924	.	.	ENSG00000078674	ENST00000325083;ENST00000325126;ENST00000517730;ENST00000518537;ENST00000519253;ENST00000524226	T;T;T;T;T	0.29917	3.25;2.33;1.55;3.25;3.01	4.88	4.88	0.63580	.	0.047036	0.85682	D	0.000000	T	0.51483	0.1677	L	0.60455	1.87	0.80722	D	1	D;D;D;D	0.67145	0.99;0.992;0.996;0.99	D;D;D;D	0.77557	0.979;0.984;0.99;0.979	T	0.33675	-0.9859	10	0.22109	T	0.4	-19.5863	18.9274	0.92550	0.0:0.0:1.0:0.0	.	479;518;479;479	E7ETA6;E7EV93;E7EV56;Q15154	.;.;.;PCM1_HUMAN	K	479;518;518;518;479;479	ENSP00000327077:E479K;ENSP00000428131:E518K;ENSP00000428123:E518K;ENSP00000431099:E479K;ENSP00000430521:E479K	ENSP00000327077:E479K	E	+	1	0	PCM1	17857405	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	7.037000	0.76531	2.645000	0.89757	0.655000	0.94253	GAA	PCM1	-	NULL		0.368	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	G	NM_006197		17813125	+1	no_errors	ENST00000325083	ensembl	human	known	70_37	missense	SNP	1.000	A
PCM1	5108	genome.wustl.edu	37	8	17817611	17817611	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:17817611C>G	ENST00000519253.1	+	14	2380	c.2129C>G	c.(2128-2130)tCa>tGa	p.S710*	PCM1_ENST00000524226.1_Nonsense_Mutation_p.S711*|PCM1_ENST00000325083.8_Nonsense_Mutation_p.S710*			Q15154	PCM1_HUMAN	pericentriolar material 1	710					centrosome organization (GO:0051297)|cilium assembly (GO:0042384)|cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|interkinetic nuclear migration (GO:0022027)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|microtubule anchoring (GO:0034453)|microtubule anchoring at centrosome (GO:0034454)|mitotic cell cycle (GO:0000278)|negative regulation of neurogenesis (GO:0050768)|neuronal stem cell maintenance (GO:0097150)|positive regulation of intracellular protein transport (GO:0090316)|protein localization to centrosome (GO:0071539)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|pericentriolar material (GO:0000242)|protein complex (GO:0043234)	identical protein binding (GO:0042802)		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AAGCAAAATTCAAATAACACT	0.363			T	"""RET, JAK2"""	"""papillary thyroid, CML, MPD"""																																			Dom	yes		8	8p22-p21.3	5108	pericentriolar material 1  (PTC4)		"""E, L"""	0													67.0	63.0	64.0					8																	17817611		1852	4089	5941	SO:0001587	stop_gained	5108				CCDS47812.1	8p22-p21.3	2008-08-08			ENSG00000078674	ENSG00000078674			8727	protein-coding gene	gene with protein product		600299				8120099, 15659651	Standard	NM_006197		Approved	PTC4	uc003wyi.4	Q15154	OTTHUMG00000163699	ENST00000519253.1:c.2129C>G	8.37:g.17817611C>G	ENSP00000431099:p.Ser710*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q58F13|Q6P1K7|Q8NB85|Q9BWC1|Q9H4A2	Nonsense_Mutation	SNP	NULL	p.S710*	ENST00000519253.1	37	c.2129		8	.	.	.	.	.	.	.	.	.	.	C	43	10.219558	0.99362	.	.	ENSG00000078674	ENST00000325083;ENST00000517730;ENST00000519253;ENST00000524226	.	.	.	5.19	5.19	0.71726	.	0.196591	0.53938	D	0.000046	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-1.2483	19.6123	0.95613	0.0:1.0:0.0:0.0	.	.	.	.	X	710;749;710;711	.	ENSP00000327077:S710X	S	+	2	0	PCM1	17861891	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.971000	0.70440	2.801000	0.96364	0.650000	0.86243	TCA	PCM1	-	NULL		0.363	PCM1-003	NOVEL	basic|exp_conf	protein_coding	PCM1	HGNC	protein_coding	OTTHUMT00000374800.1	C	NM_006197		17817611	+1	no_errors	ENST00000325083	ensembl	human	known	70_37	nonsense	SNP	1.000	G
PCNT	5116	genome.wustl.edu	37	21	47865279	47865279	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:47865279G>A	ENST00000359568.5	+	0	10157				PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin						brain morphogenesis (GO:0048854)|cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|G2/M transition of mitotic cell cycle (GO:0000086)|in utero embryonic development (GO:0001701)|limb morphogenesis (GO:0035108)|microtubule cytoskeleton organization (GO:0000226)|mitotic cell cycle (GO:0000278)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|neural precursor cell proliferation (GO:0061351)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of intracellular protein transport (GO:0090316)|spindle organization (GO:0007051)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intercellular bridge (GO:0045171)|membrane (GO:0016020)|microtubule (GO:0005874)|motile cilium (GO:0031514)|pericentriolar material (GO:0000242)				NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AATTCTATTTGAGGAAAAGAT	0.418																																																	0													75.0	76.0	76.0					21																	47865279		2203	4300	6503	SO:0001624	3_prime_UTR_variant	5116			AB007862	CCDS33592.1	21q22.3	2014-02-20	2008-01-30	2005-11-03	ENSG00000160299	ENSG00000160299			16068	protein-coding gene	gene with protein product	"""kendrin"", ""Seckel syndrome 4"""	605925	"""pericentrin 2 (kendrin)"""	PCNT2		8812505, 9455477	Standard	NM_006031		Approved	KEN, KIAA0402, PCN, PCNTB, SCKL4	uc002zji.4	O95613	OTTHUMG00000090665	ENST00000359568.5:c.*39G>A	21.37:g.47865279G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43152|Q7Z7C9	RNA	SNP	-	NULL	ENST00000359568.5	37	NULL	CCDS33592.1	21																																																																																			PCNT	-	-		0.418	PCNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCNT	HGNC	protein_coding	OTTHUMT00000207336.1	G	NM_006031		47865279	+1	no_errors	ENST00000480896	ensembl	human	known	70_37	rna	SNP	0.500	A
PDE10A	10846	genome.wustl.edu	37	6	165746607	165746607	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:165746607G>A	ENST00000366882.1	-	23	2401	c.2247C>T	c.(2245-2247)ctC>ctT	p.L749L	PDE10A_ENST00000354448.4_Silent_p.L749L|PDE10A_ENST00000539869.2_Silent_p.L759L			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	749					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	CCCACTGACTGAGATTATCCC	0.483																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0													111.0	101.0	104.0					6																	165746607		2203	4300	6503	SO:0001819	synonymous_variant	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2247C>T	6.37:g.165746607G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Silent	SNP	pfam_PDEase_catalytic_dom,pfam_GAF,smart_GAF,smart_HD/PDEase_dom,prints_PDEase	p.L759	ENST00000366882.1	37	c.2277		6																																																																																			PDE10A	-	NULL		0.483	PDE10A-001	PUTATIVE	basic	protein_coding	PDE10A	HGNC	protein_coding	OTTHUMT00000043031.1	G			165746607	-1	no_errors	ENST00000539869	ensembl	human	known	70_37	silent	SNP	0.996	A
PDE1A	5136	genome.wustl.edu	37	2	183066180	183066180	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:183066180C>T	ENST00000410103.1	-	11	1242	c.1159G>A	c.(1159-1161)Gag>Aag	p.E387K	PDE1A_ENST00000351439.5_Missense_Mutation_p.E371K|PDE1A_ENST00000409365.1_Missense_Mutation_p.E371K|PDE1A_ENST00000456212.1_Missense_Mutation_p.E387K|PDE1A_ENST00000331935.6_Missense_Mutation_p.E387K|PDE1A_ENST00000536095.1_Missense_Mutation_p.E283K|PDE1A_ENST00000358139.2_Missense_Mutation_p.E387K|PDE1A_ENST00000435564.1_Missense_Mutation_p.E387K|PDE1A_ENST00000346717.4_Missense_Mutation_p.E353K	NM_001003683.2	NP_001003683.1	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	387	Catalytic. {ECO:0000250}.				activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of smooth muscle cell apoptotic process (GO:0034391)|regulation of smooth muscle cell proliferation (GO:0048660)|signal transduction (GO:0007165)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|calcium- and calmodulin-regulated 3',5'-cyclic-GMP phosphodiesterase activity (GO:0048101)|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity (GO:0004117)|cGMP binding (GO:0030553)|metal ion binding (GO:0046872)			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)		Bepridil(DB01244)|Caffeine(DB00201)|Felodipine(DB01023)|Nicardipine(DB00622)	AGGAAAAACTCCTCCATTAGG	0.493																																																	0													152.0	153.0	153.0					2																	183066180		2203	4300	6503	SO:0001583	missense	5136				CCDS2285.1, CCDS33344.1, CCDS58741.1, CCDS74612.1	2q32.1	2008-03-18			ENSG00000115252	ENSG00000115252	3.1.4.17	"""Phosphodiesterases"""	8774	protein-coding gene	gene with protein product		171890				8557689, 11342109	Standard	NM_005019		Approved		uc010zfq.2	P54750	OTTHUMG00000132596	ENST00000410103.1:c.1159G>A	2.37:g.183066180C>T	ENSP00000387037:p.Glu387Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPG5|Q86VZ0|Q9C0K8|Q9C0K9|Q9C0L0|Q9C0L1|Q9C0L2|Q9C0L3|Q9C0L4|Q9UFX3	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,pfam_PDEase_N,superfamily_GRIP,smart_HD/PDEase_dom,prints_PDEase	p.E387K	ENST00000410103.1	37	c.1159	CCDS33344.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.148170	0.94603	.	.	ENSG00000115252	ENST00000435564;ENST00000346717;ENST00000536095;ENST00000409365;ENST00000331935;ENST00000351439;ENST00000410103;ENST00000358139;ENST00000456212	D;D;D;D;D;D;D;D;D	0.90004	-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6;-2.6	5.12	5.12	0.69794	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.052819	0.85682	D	0.000000	D	0.96935	0.8999	H	0.98594	4.275	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;0.999;1.0;0.999;1.0	D	0.98760	1.0724	10	0.87932	D	0	.	17.5219	0.87790	0.0:1.0:0.0:0.0	.	283;353;387;371;387	B7Z3A7;P54750-3;P54750;P54750-2;P54750-4	.;.;PDE1A_HUMAN;.;.	K	387;353;283;371;387;371;387;387;387	ENSP00000410309:E387K;ENSP00000329112:E353K;ENSP00000439938:E283K;ENSP00000386767:E371K;ENSP00000331574:E387K;ENSP00000309269:E371K;ENSP00000387037:E387K;ENSP00000350858:E387K;ENSP00000408874:E387K	ENSP00000331574:E387K	E	-	1	0	PDE1A	182774425	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.704000	0.84595	2.348000	0.79779	0.655000	0.94253	GAG	PDE1A	-	pfam_PDEase_catalytic_dom,prints_PDEase		0.493	PDE1A-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PDE1A	HGNC	protein_coding	OTTHUMT00000334356.1	C			183066180	-1	no_errors	ENST00000456212	ensembl	human	known	70_37	missense	SNP	1.000	T
PDE3A	5139	genome.wustl.edu	37	12	20799728	20799728	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:20799728C>G	ENST00000359062.3	+	12	2449	c.2409C>G	c.(2407-2409)ttC>ttG	p.F803L	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	803	Catalytic. {ECO:0000250}.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cAMP-mediated signaling (GO:0019933)|cellular response to cGMP (GO:0071321)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cGMP-mediated signaling (GO:0019934)|diterpenoid metabolic process (GO:0016101)|lipid metabolic process (GO:0006629)|negative regulation of apoptotic process (GO:0043066)|negative regulation of vascular permeability (GO:0043116)|oocyte maturation (GO:0001556)|positive regulation of oocyte development (GO:0060282)|positive regulation of vascular permeability (GO:0043117)|regulation of meiosis (GO:0040020)|response to cAMP (GO:0051591)|response to drug (GO:0042493)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|cAMP binding (GO:0030552)|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity (GO:0004119)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Caffeine(DB00201)|Cilostazol(DB01166)|Enoximone(DB04880)|Ibudilast(DB05266)|Levosimendan(DB00922)|Milrinone(DB00235)|Oxtriphylline(DB01303)|Theophylline(DB00277)|Tofisopam(DB08811)	GATATGTATTCTCAAAAACGT	0.393																																																	0													140.0	133.0	135.0					12																	20799728		2203	4300	6503	SO:0001583	missense	5139				CCDS31754.1	12p12.2	2011-04-15			ENSG00000172572	ENSG00000172572	3.1.4.17	"""Phosphodiesterases"""	8778	protein-coding gene	gene with protein product		123805				1315035, 10679291	Standard	NM_000921		Approved	CGI-PDE	uc001reh.2	Q14432	OTTHUMG00000168962	ENST00000359062.3:c.2409C>G	12.37:g.20799728C>G	ENSP00000351957:p.Phe803Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O60865|Q13348|Q17RD1	Missense_Mutation	SNP	pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom	p.F803L	ENST00000359062.3	37	c.2409	CCDS31754.1	12	.	.	.	.	.	.	.	.	.	.	C	8.379	0.837137	0.16891	.	.	ENSG00000172572	ENST00000359062	T	0.74947	-0.89	5.84	2.32	0.28847	Metal-dependent phosphohydrolase, HD domain (1);	0.192653	0.49916	D	0.000127	T	0.46288	0.1385	N	0.08118	0	0.38142	D	0.938473	B	0.17465	0.022	B	0.15870	0.014	T	0.24012	-1.0172	10	0.09843	T	0.71	.	6.0381	0.19718	0.0:0.4897:0.1399:0.3704	.	803	Q14432	PDE3A_HUMAN	L	803	ENSP00000351957:F803L	ENSP00000351957:F803L	F	+	3	2	PDE3A	20690995	0.352000	0.24895	1.000000	0.80357	0.996000	0.88848	-0.462000	0.06704	0.671000	0.31185	0.637000	0.83480	TTC	PDE3A	-	smart_HD/PDEase_dom		0.393	PDE3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDE3A	HGNC	protein_coding	OTTHUMT00000401756.2	C			20799728	+1	no_errors	ENST00000359062	ensembl	human	known	70_37	missense	SNP	0.896	G
PDE4DIP	9659	genome.wustl.edu	37	1	144911926	144911926	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:144911926G>T	ENST00000369354.3	-	16	2372	c.2183C>A	c.(2182-2184)tCa>tAa	p.S728*	PDE4DIP_ENST00000524974.1_5'Flank|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.S515*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.S728*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.S865*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.S728*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.S728*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.S794*|PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.S891*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.S865*|PDE4DIP_ENST00000529945.1_Nonsense_Mutation_p.S891*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	728					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCAGTCAATGAAGTGCTATC	0.378			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													244.0	226.0	232.0					1																	144911926		2203	4300	6503	SO:0001587	stop_gained	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2183C>A	1.37:g.144911926G>T	ENSP00000358360:p.Ser728*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Nonsense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.S728*	ENST00000369354.3	37	c.2183	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	G	37	6.134233	0.97315	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	.	15.0248	0.71659	0.0:0.0:1.0:0.0	.	.	.	.	X	794;728;728;891;865;865;728;728;891;891;515	.	ENSP00000327209:S794X	S	-	2	0	PDE4DIP	143623283	0.015000	0.18098	0.027000	0.17364	0.289000	0.27227	1.425000	0.34859	2.624000	0.88883	0.650000	0.86243	TCA	PDE4DIP	-	NULL		0.378	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	G	NM_022359		144911926	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	nonsense	SNP	0.040	T
PDGFRA	5156	genome.wustl.edu	37	4	55143649	55143649	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:55143649G>C	ENST00000257290.5	+	13	2212	c.1881G>C	c.(1879-1881)aaG>aaC	p.K627N	FIP1L1_ENST00000507166.1_Missense_Mutation_p.K387N	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	627	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adrenal gland development (GO:0030325)|cardiac myofibril assembly (GO:0055003)|cell activation (GO:0001775)|cell chemotaxis (GO:0060326)|cellular response to amino acid stimulus (GO:0071230)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|epidermal growth factor receptor signaling pathway (GO:0007173)|estrogen metabolic process (GO:0008210)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hematopoietic progenitor cell differentiation (GO:0002244)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|Leydig cell differentiation (GO:0033327)|lung development (GO:0030324)|luteinization (GO:0001553)|male genitalia development (GO:0030539)|metanephric glomerular capillary formation (GO:0072277)|negative regulation of platelet activation (GO:0010544)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet aggregation (GO:0070527)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-alpha signaling pathway (GO:0035790)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA replication (GO:0045740)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of chemotaxis (GO:0050920)|regulation of mesenchymal stem cell differentiation (GO:2000739)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction involved in regulation of gene expression (GO:0023019)|viral process (GO:0016032)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|membrane (GO:0016020)|microvillus (GO:0005902)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet-derived growth factor alpha-receptor activity (GO:0005018)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sunitinib(DB01268)	TTGCAGTGAAGATGCTAAAAC	0.478			"""Mis, O, T"""	FIP1L1	"""GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"""				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)																											Pancreas(151;208 1913 7310 23853 37092)			Dom	yes		4	4q11-q13	5156	"""platelet-derived growth factor, alpha-receptor"""		"""L, M, O"""	0													120.0	120.0	120.0					4																	55143649		2203	4300	6503	SO:0001583	missense	5156	Familial Cancer Database	Sporadic Multiple GIST;Familial Intestinal Stromal Tumors, NF3B, subset of Familial GIST,	D50001	CCDS3495.1	4q12	2014-09-17			ENSG00000134853	ENSG00000134853		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	8803	protein-coding gene	gene with protein product		173490					Standard	NM_006206		Approved	CD140a, PDGFR2	uc003han.4	P16234	OTTHUMG00000128699	ENST00000257290.5:c.1881G>C	4.37:g.55143649G>C	ENSP00000257290:p.Lys627Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE69|E9PBH0|Q6P4H5|Q96KZ7|Q9UD28	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR_rcpt_N	p.K627N	ENST00000257290.5	37	c.1881	CCDS3495.1	4	.	.	.	.	.	.	.	.	.	.	G	16.89	3.246462	0.59103	.	.	ENSG00000145216;ENSG00000134853	ENST00000507166;ENST00000257290	D;D	0.97906	-4.6;-4.6	5.63	4.67	0.58626	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.33346	U	0.005008	D	0.98614	0.9536	M	0.93462	3.42	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.98708	1.0703	10	0.87932	D	0	.	3.6671	0.08260	0.3418:0.0:0.6582:0.0	.	627;627	P16234-3;P16234	.;PGFRA_HUMAN	N	387;627	ENSP00000423325:K387N;ENSP00000257290:K627N	ENSP00000423325:K387N	K	+	3	2	FIP1L1;PDGFRA	54838406	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	2.694000	0.47035	2.669000	0.90835	0.655000	0.94253	AAG	PDGFRA	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_CSF1/PDGF_rcpt,pfscan_Prot_kinase_cat_dom		0.478	PDGFRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDGFRA	HGNC	protein_coding	OTTHUMT00000250598.2	G	NM_006206		55143649	+1	no_errors	ENST00000257290	ensembl	human	known	70_37	missense	SNP	1.000	C
PDRG1	81572	genome.wustl.edu	37	20	30533645	30533645	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:30533645C>T	ENST00000202017.4	-	5	497	c.367G>A	c.(367-369)Gag>Aag	p.E123K		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	123					protein folding (GO:0006457)	cytoplasm (GO:0005737)|prefoldin complex (GO:0016272)				endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCTTTAAGCTCATCCTGGTTG	0.552																																																	0													81.0	75.0	77.0					20																	30533645		2203	4300	6503	SO:0001583	missense	81572			AL031658	CCDS13194.1	20q11.21	2009-06-12	2009-06-12	2004-10-07	ENSG00000088356	ENSG00000088356			16119	protein-coding gene	gene with protein product		610789	"""chromosome 20 open reading frame 126"""	C20orf126		14562055	Standard	NM_030815		Approved	dJ310O13.3	uc002wxd.3	Q9NUG6	OTTHUMG00000032196	ENST00000202017.4:c.367G>A	20.37:g.30533645C>T	ENSP00000202017:p.Glu123Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R511|Q96GP3|Q9BUW8	Missense_Mutation	SNP	pfam_PFD_beta-like,superfamily_Prefoldin	p.E123K	ENST00000202017.4	37	c.367	CCDS13194.1	20	.	.	.	.	.	.	.	.	.	.	C	25.9	4.683292	0.88542	.	.	ENSG00000088356	ENST00000202017	.	.	.	4.4	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.79452	0.4448	M	0.85630	2.765	0.58432	D	0.999999	D	0.89917	1.0	D	0.66716	0.946	T	0.83267	-0.0045	9	0.87932	D	0	-20.7806	14.1867	0.65609	0.0:1.0:0.0:0.0	.	123	Q9NUG6	PDRG1_HUMAN	K	123	.	ENSP00000202017:E123K	E	-	1	0	PDRG1	29997306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.342000	0.59341	2.436000	0.82500	0.557000	0.71058	GAG	PDRG1	-	NULL		0.552	PDRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDRG1	HGNC	protein_coding	OTTHUMT00000078593.2	C	NM_030815		30533645	-1	no_errors	ENST00000202017	ensembl	human	known	70_37	missense	SNP	1.000	T
PDZRN4	29951	genome.wustl.edu	37	12	41961654	41961654	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:41961654G>A	ENST00000402685.2	+	9	1545	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	PDZRN4_ENST00000298919.7_Missense_Mutation_p.E253K|PDZRN4_ENST00000539469.2_Missense_Mutation_p.E255K	NM_001164595.1	NP_001158067.1	Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	513							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GATGTTGGAAGAAGAGCATAA	0.388																																																	0													103.0	92.0	95.0					12																	41961654		2203	4300	6503	SO:0001583	missense	29951			AK094690	CCDS8739.1, CCDS53777.1	12q12	2008-08-14	2008-08-14			ENSG00000165966		"""RING-type (C3HC4) zinc fingers"""	30552	protein-coding gene	gene with protein product	"""similar to semaF cytoplasmic domain associated protein 3"""	609730				11230166, 15010864	Standard	NM_013377		Approved	DKFZp434B0417, LNX4, FLJ33777, IMAGE5767589	uc010skn.2	Q6ZMN7		ENST00000402685.2:c.1537G>A	12.37:g.41961654G>A	ENSP00000384197:p.Glu513Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LY3|Q52LY4|Q6N052|Q8IUU1|Q9NTP7	Missense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,superfamily_TRAF-like,smart_Znf_RING,smart_PDZ,pfscan_PDZ,pfscan_Znf_RING	p.E513K	ENST00000402685.2	37	c.1537	CCDS53777.1	12	.	.	.	.	.	.	.	.	.	.	G	18.16	3.562828	0.65538	.	.	ENSG00000165966	ENST00000402685;ENST00000539469;ENST00000298919	T;T;T	0.73152	-0.72;3.74;3.73	4.85	3.96	0.45880	.	0.074022	0.56097	N	0.000040	T	0.68796	0.3040	M	0.73217	2.22	0.58432	D	0.999999	B;B;B	0.28512	0.214;0.012;0.01	B;B;B	0.25291	0.018;0.043;0.059	T	0.70988	-0.4722	10	0.62326	D	0.03	-12.1618	13.6494	0.62301	0.0767:0.0:0.9233:0.0	.	513;253;255	Q6ZMN7;Q6ZMN7-4;Q6ZMN7-2	PZRN4_HUMAN;.;.	K	513;255;253	ENSP00000384197:E513K;ENSP00000439990:E255K;ENSP00000298919:E253K	ENSP00000298919:E253K	E	+	1	0	PDZRN4	40247921	1.000000	0.71417	0.999000	0.59377	0.848000	0.48234	6.476000	0.73587	1.355000	0.45865	0.585000	0.79938	GAA	PDZRN4	-	NULL		0.388	PDZRN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDZRN4	HGNC	protein_coding	OTTHUMT00000403701.1	G	NM_013377		41961654	+1	no_errors	ENST00000402685	ensembl	human	known	70_37	missense	SNP	1.000	A
PER1	5187	genome.wustl.edu	37	17	8046090	8046090	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:8046090G>A	ENST00000317276.4	-	20	3373	c.3136C>T	c.(3136-3138)Ctg>Ttg	p.L1046L	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000581082.1_Silent_p.L1023L	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	1046	Ser-rich.				circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TCTTGCAGCAGAAGTTCGAGC	0.662			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													47.0	50.0	49.0					17																	8046090		2203	4300	6503	SO:0001819	synonymous_variant	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.3136C>T	17.37:g.8046090G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPA8|B4DI49|D3DTR3	Silent	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.L1046	ENST00000317276.4	37	c.3136	CCDS11131.1	17																																																																																			PER1	-	pfam_Period_circadian-like_C		0.662	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	G			8046090	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	silent	SNP	1.000	A
PER1	5187	genome.wustl.edu	37	17	8050296	8050296	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:8050296C>T	ENST00000317276.4	-	14	1891	c.1654G>A	c.(1654-1656)Gat>Aat	p.D552N	PER1_ENST00000578089.1_5'Flank|PER1_ENST00000354903.5_Missense_Mutation_p.D536N|PER1_ENST00000581082.1_Missense_Mutation_p.D532N	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	552					circadian regulation of gene expression (GO:0032922)|circadian regulation of translation (GO:0097167)|circadian rhythm (GO:0007623)|entrainment of circadian clock (GO:0009649)|entrainment of circadian clock by photoperiod (GO:0043153)|histone H3 acetylation (GO:0043966)|histone H3 deacetylation (GO:0070932)|histone H4 acetylation (GO:0043967)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of JNK cascade (GO:0046329)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posttranscriptional regulation of gene expression (GO:0010608)|regulation of circadian rhythm (GO:0042752)|regulation of cytokine production involved in inflammatory response (GO:1900015)|regulation of hair cycle (GO:0042634)|regulation of p38MAPK cascade (GO:1900744)|regulation of sodium ion transport (GO:0002028)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|E-box binding (GO:0070888)|kinase binding (GO:0019900)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|signal transducer activity (GO:0004871)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGATGCACATCCTTACAGATC	0.577			T	ETV6	"""AML, CMML"""			Other conserved DNA damage response genes																																Dom	yes		17	17p13.1-17p12	5187	period homolog 1 (Drosophila)		L	0													44.0	51.0	49.0					17																	8050296		2203	4300	6503	SO:0001583	missense	5187			AB002107	CCDS11131.1	17p13.1	2012-12-13	2012-12-13			ENSG00000179094			8845	protein-coding gene	gene with protein product		602260	"""period (Drosophila) homolog 1"", ""period homolog 1 (Drosophila)"""	PER		9323128	Standard	NM_002616		Approved	RIGUI	uc002gkd.3	O15534		ENST00000317276.4:c.1654G>A	17.37:g.8050296C>T	ENSP00000314420:p.Asp552Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPA8|B4DI49|D3DTR3	Missense_Mutation	SNP	pfam_Period_circadian-like_C,pfam_PAS_fold_3,smart_PAS,pfscan_PAS	p.D552N	ENST00000317276.4	37	c.1654	CCDS11131.1	17	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092911	0.56075	.	.	ENSG00000179094	ENST00000317276;ENST00000354903	T;T	0.40476	2.48;1.03	5.06	4.09	0.47781	.	0.160718	0.53938	D	0.000056	T	0.47469	0.1447	L	0.37630	1.12	0.43351	D	0.995411	P;D	0.69078	0.846;0.997	B;D	0.73380	0.261;0.98	T	0.34129	-0.9841	10	0.21540	T	0.41	-17.7864	8.2569	0.31763	0.0:0.8176:0.0:0.1824	.	536;552	B4DI49;O15534	.;PER1_HUMAN	N	552;536	ENSP00000314420:D552N;ENSP00000346979:D536N	ENSP00000314420:D552N	D	-	1	0	PER1	7991021	1.000000	0.71417	0.996000	0.52242	0.913000	0.54294	5.837000	0.69381	1.269000	0.44280	0.446000	0.29264	GAT	PER1	-	NULL		0.577	PER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PER1	HGNC	protein_coding	OTTHUMT00000441481.2	C			8050296	-1	no_errors	ENST00000317276	ensembl	human	known	70_37	missense	SNP	1.000	T
PFKFB2	5208	genome.wustl.edu	37	1	207237151	207237151	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:207237151G>A	ENST00000367080.3	+	7	608	c.484G>A	c.(484-486)Gat>Aat	p.D162N	PFKFB2_ENST00000411990.2_Missense_Mutation_p.D64N|PFKFB2_ENST00000541914.1_5'Flank|PFKFB2_ENST00000367079.2_Missense_Mutation_p.D162N|PFKFB2_ENST00000545806.1_Missense_Mutation_p.D129N	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	162	6-phosphofructo-2-kinase.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 2,6-bisphosphate metabolic process (GO:0006003)|fructose metabolic process (GO:0006000)|glucose catabolic process (GO:0006007)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|lactate metabolic process (GO:0006089)|positive regulation of glucokinase activity (GO:0033133)|positive regulation of insulin secretion (GO:0032024)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	6-phosphofructo-2-kinase activity (GO:0003873)|ATP binding (GO:0005524)|fructose-2,6-bisphosphate 2-phosphatase activity (GO:0004331)|protein kinase binding (GO:0019901)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					TGATGATCCTGATGTCATTGC	0.463																																																	0													336.0	308.0	317.0					1																	207237151		2203	4300	6503	SO:0001583	missense	5208				CCDS31003.1, CCDS31004.1	1q31-q32.2	2012-07-13			ENSG00000123836	ENSG00000123836	2.7.1.105, 3.1.3.46		8873	protein-coding gene	gene with protein product		171835					Standard	XM_005273162		Approved		uc001hfg.3	O60825	OTTHUMG00000036033	ENST00000367080.3:c.484G>A	1.37:g.207237151G>A	ENSP00000356047:p.Asp162Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O60824|Q5VVQ3|Q5VVQ4|Q9H3P1	Missense_Mutation	SNP	pfam_6Phosfructo_kin,pfam_His_Pase_superF_clade-1,pfam_Chromatin_KTI12,smart_His_Pase_superF_clade-1,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin	p.D162N	ENST00000367080.3	37	c.484	CCDS31004.1	1	.	.	.	.	.	.	.	.	.	.	G	28.6	4.930979	0.92389	.	.	ENSG00000123836	ENST00000411990;ENST00000367080;ENST00000367079;ENST00000545806	.	.	.	5.49	5.49	0.81192	6-phosphofructo-2-kinase (1);	0.091023	0.85682	D	0.000000	T	0.51244	0.1663	N	0.21545	0.675	0.80722	D	1	B;B;B	0.13145	0.007;0.001;0.006	B;B;B	0.18561	0.008;0.008;0.022	T	0.41070	-0.9529	9	0.31617	T	0.26	.	18.3618	0.90377	0.0:0.0:1.0:0.0	.	64;162;162	B4DY91;Q5VVQ3;O60825	.;.;F262_HUMAN	N	64;162;162;129	.	ENSP00000356046:D162N	D	+	1	0	PFKFB2	205303774	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.698000	0.68302	2.592000	0.87571	0.655000	0.94253	GAT	PFKFB2	-	pfam_6Phosfructo_kin,pfam_Chromatin_KTI12,pirsf_Bifunct_6PFK/fruc_bisP_Ptase,prints_6Pfruct_kin		0.463	PFKFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKFB2	HGNC	protein_coding	OTTHUMT00000087838.1	G			207237151	+1	no_errors	ENST00000367080	ensembl	human	known	70_37	missense	SNP	1.000	A
PGAP1	80055	genome.wustl.edu	37	2	197791251	197791251	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:197791251G>A	ENST00000354764.4	-	1	204	c.90C>T	c.(88-90)ttC>ttT	p.F30F	PGAP1_ENST00000485830.1_Intron|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000409475.1_Silent_p.F30F	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	30					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CCTCGAAGCCGAAGAAGACAT	0.522																																																	0													198.0	220.0	213.0					2																	197791251		2203	4300	6503	SO:0001819	synonymous_variant	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.90C>T	2.37:g.197791251G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Silent	SNP	pfam_PGAP1-like	p.F30	ENST00000354764.4	37	c.90	CCDS2318.1	2																																																																																			PGAP1	-	NULL		0.522	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	G	NM_024989		197791251	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	silent	SNP	0.995	A
PGBD1	84547	genome.wustl.edu	37	6	28254871	28254871	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:28254871G>A	ENST00000405948.2	+	4	988	c.568G>A	c.(568-570)Gga>Aga	p.G190R	PGBD1_ENST00000259883.3_Missense_Mutation_p.G190R	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	190						membrane (GO:0016020)|nucleus (GO:0005634)	scavenger receptor activity (GO:0005044)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TGTTCCCCACGGATCAGCTCA	0.522																																																	0													118.0	100.0	106.0					6																	28254871		2203	4300	6503	SO:0001583	missense	84547			D88259	CCDS4648.1	6p22.1	2013-01-09			ENSG00000137338	ENSG00000137338		"""-"""	19398	protein-coding gene	gene with protein product							Standard	NM_001184743		Approved	HUCEP-4, dJ874C20.4, SCAND4	uc003nkz.3	Q96JS3	OTTHUMG00000014520	ENST00000405948.2:c.568G>A	6.37:g.28254871G>A	ENSP00000385213:p.Gly190Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53F43|Q6NTF5|Q8WWS4	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,pfscan_Srcr_rcpt,pfscan_Tscrpt_reg_SCAN	p.G190R	ENST00000405948.2	37	c.568	CCDS4648.1	6	.	.	.	.	.	.	.	.	.	.	G	0.886	-0.727251	0.03158	.	.	ENSG00000137338	ENST00000405948;ENST00000259883	T;T	0.01347	4.99;4.99	4.35	1.45	0.22620	.	.	.	.	.	T	0.00328	0.0010	N	0.12182	0.205	0.09310	N	1	B	0.28258	0.205	B	0.13407	0.009	T	0.45071	-0.9286	9	0.48119	T	0.1	-16.9802	3.7889	0.08712	0.2256:0.2067:0.5677:0.0	.	190	Q96JS3	PGBD1_HUMAN	R	190	ENSP00000385213:G190R;ENSP00000259883:G190R	ENSP00000259883:G190R	G	+	1	0	PGBD1	28362850	0.000000	0.05858	0.007000	0.13788	0.154000	0.21943	-0.270000	0.08584	0.501000	0.28013	0.563000	0.77884	GGA	PGBD1	-	NULL		0.522	PGBD1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PGBD1	HGNC	protein_coding	OTTHUMT00000040188.2	G			28254871	+1	no_errors	ENST00000259883	ensembl	human	known	70_37	missense	SNP	0.005	A
PGLYRP1	8993	genome.wustl.edu	37	19	46522675	46522675	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:46522675G>A	ENST00000008938.4	-	3	455	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W	CCDC61_ENST00000601763.1_Intron|MIR769_ENST00000390225.1_RNA	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	138					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|immune response (GO:0006955)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptidoglycan catabolic process (GO:0009253)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GTGGGCACCCGATCTGGAGGA	0.657																																																	0													47.0	51.0	50.0					19																	46522675		2203	4300	6503	SO:0001583	missense	8993			AF076483	CCDS12680.1	19q13.2-q13.3	2008-02-05	2004-03-17	2004-03-19		ENSG00000008438			8904	protein-coding gene	gene with protein product		604963	"""peptidoglycan recognition protein"""	TNFSF3L, PGLYRP		9707603, 12669421	Standard	NM_005091		Approved	TAG7, PGRP, PGRP-S, PGRPS	uc002pdx.2	O75594		ENST00000008938.4:c.412C>T	19.37:g.46522675G>A	ENSP00000008938:p.Arg138Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VB36	Missense_Mutation	SNP	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition	p.R138W	ENST00000008938.4	37	c.412	CCDS12680.1	19	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117035	0.56505	.	.	ENSG00000008438	ENST00000008938	T	0.14144	2.53	4.93	3.86	0.44501	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.000000	0.52532	D	0.000064	T	0.40619	0.1124	M	0.89414	3.03	0.09310	N	1	D	0.89917	1.0	D	0.76071	0.987	T	0.32402	-0.9908	10	0.72032	D	0.01	-41.9195	10.4912	0.44752	0.0:0.0:0.8057:0.1943	.	138	O75594	PGRP1_HUMAN	W	138	ENSP00000008938:R138W	ENSP00000008938:R138W	R	-	1	2	PGLYRP1	51214515	0.005000	0.15991	0.066000	0.19879	0.036000	0.12997	0.876000	0.28092	1.016000	0.39470	0.558000	0.71614	CGG	PGLYRP1	-	pfam_Amidase_domain,superfamily_Amidase_domain,smart_PGRP_domain_met/bac,smart_Amidase_domain,pirsf_Peptidoglycan_recognition		0.657	PGLYRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGLYRP1	HGNC	protein_coding	OTTHUMT00000461695.1	G	NM_005091		46522675	-1	no_errors	ENST00000008938	ensembl	human	known	70_37	missense	SNP	0.078	A
PGM5	5239	genome.wustl.edu	37	9	71098826	71098826	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:71098826G>A	ENST00000396396.1	+	9	1570	c.1341G>A	c.(1339-1341)atG>atA	p.M447I		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	447					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						ATTATATCATGAGGGACCTGG	0.507																																																	0													103.0	92.0	96.0					9																	71098826		2203	4300	6503	SO:0001583	missense	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1341G>A	9.37:g.71098826G>A	ENSP00000379678:p.Met447Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Missense_Mutation	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.M447I	ENST00000396396.1	37	c.1341	CCDS6622.2	9	.	.	.	.	.	.	.	.	.	.	G	16.45	3.127278	0.56721	.	.	ENSG00000154330	ENST00000396396	T	0.42131	0.98	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	T	0.43389	0.1245	L	0.51853	1.615	0.80722	D	1	B	0.23249	0.082	B	0.28553	0.091	T	0.18241	-1.0343	10	0.33141	T	0.24	.	18.7313	0.91736	0.0:0.0:1.0:0.0	.	447	Q15124	PGM5_HUMAN	I	447	ENSP00000379678:M447I	ENSP00000379678:M447I	M	+	3	0	PGM5	70288646	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.411000	0.73298	2.716000	0.92895	0.655000	0.94253	ATG	PGM5	-	NULL		0.507	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	G	NM_021965		71098826	+1	no_errors	ENST00000396396	ensembl	human	known	70_37	missense	SNP	1.000	A
PHF20	51230	genome.wustl.edu	37	20	34487442	34487442	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:34487442G>T	ENST00000374012.3	+	10	1562	c.1433G>T	c.(1432-1434)gGa>gTa	p.G478V	PHF20_ENST00000439301.1_3'UTR|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	478					chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|MLL1 complex (GO:0071339)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TATTTCCATGGAATGGAGAAG	0.493																																																	0													62.0	61.0	61.0					20																	34487442		2203	4300	6503	SO:0001583	missense	51230			AL109965	CCDS13268.1	20q11.22-q11.23	2013-01-28	2004-12-01	2004-12-01	ENSG00000025293	ENSG00000025293		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	16098	protein-coding gene	gene with protein product	"""tudor domain containing 20A"""	610335	"""chromosome 20 open reading frame 104"""	C20orf104			Standard	NM_016436		Approved	dJ1121G12.1, TDRD20A	uc002xek.1	Q9BVI0	OTTHUMG00000032367	ENST00000374012.3:c.1433G>T	20.37:g.34487442G>T	ENSP00000363124:p.Gly478Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E235|B2RB56|E1P5S3|Q566Q2|Q5JWY9|Q66K49|Q9BWV4|Q9BXA3|Q9BZW3|Q9H421|Q9H4J6|Q9NZ22	Missense_Mutation	SNP	pfam_DUF3776,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Tudor,smart_Znf_PHD,pfscan_Znf_C2H2	p.G478V	ENST00000374012.3	37	c.1433	CCDS13268.1	20	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963002	0.74016	.	.	ENSG00000025293	ENST00000374012;ENST00000339089;ENST00000374000	T;T;T	0.52526	1.3;0.66;0.66	6.02	5.07	0.68467	Zinc finger, C2H2 (1);	0.049969	0.85682	D	0.000000	T	0.66287	0.2774	L	0.58101	1.795	0.80722	D	1	B;D	0.89917	0.034;1.0	B;D	0.91635	0.018;0.999	T	0.69957	-0.5004	10	0.72032	D	0.01	.	16.797	0.85605	0.0:0.0:0.8702:0.1298	.	478;478	Q9BVI0;Q66K49	PHF20_HUMAN;.	V	478	ENSP00000363124:G478V;ENSP00000341900:G478V;ENSP00000363112:G478V	ENSP00000341900:G478V	G	+	2	0	PHF20	33950856	1.000000	0.71417	0.888000	0.34837	0.768000	0.43524	7.414000	0.80117	1.549000	0.49425	0.655000	0.94253	GGA	PHF20	-	pfscan_Znf_C2H2		0.493	PHF20-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF20	HGNC	protein_coding	OTTHUMT00000078949.2	G	NM_016436		34487442	+1	no_errors	ENST00000374012	ensembl	human	known	70_37	missense	SNP	0.995	T
PHF20L1	51105	genome.wustl.edu	37	8	133848895	133848895	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:133848895G>T	ENST00000395386.2	+	16	2319	c.2020G>T	c.(2020-2022)Gag>Tag	p.E674*	PHF20L1_ENST00000395390.2_Nonsense_Mutation_p.E649*|AF230666.2_ENST00000608375.1_RNA|AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Nonsense_Mutation_p.E61*	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	674							zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATCTCAGGATGAGGATGATGC	0.398																																																	0													192.0	183.0	186.0					8																	133848895		1954	4139	6093	SO:0001587	stop_gained	51105			AF230666	CCDS6367.2, CCDS6368.1, CCDS75791.1	8q24.22	2014-03-24			ENSG00000129292	ENSG00000129292		"""Tudor domain containing"", ""Zinc fingers, PHD-type"""	24280	protein-coding gene	gene with protein product	"""tudor domain containing 20B"""					10810093, 24492612	Standard	NM_016018		Approved	CGI-72, FLJ13649, MGC64923, FLJ21615, TDRD20B	uc003ytt.3	A8MW92	OTTHUMG00000148656	ENST00000395386.2:c.2020G>T	8.37:g.133848895G>T	ENSP00000378784:p.Glu674*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZC9|Q86U89|Q86W43|Q96BT0|Q9H702|Q9HBK3|Q9NYR3|Q9Y381	Nonsense_Mutation	SNP	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD	p.E61*	ENST00000395386.2	37	c.181	CCDS6367.2	8	.	.	.	.	.	.	.	.	.	.	G	39	7.706563	0.98444	.	.	ENSG00000129292	ENST00000395386;ENST00000220847;ENST00000395390	.	.	.	5.14	5.14	0.70334	.	1.294060	0.05499	U	0.558000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.32370	T	0.25	-33.3097	17.96	0.89082	0.0:0.0:1.0:0.0	.	.	.	.	X	674;61;649	.	ENSP00000220847:E61X	E	+	1	0	PHF20L1	133918077	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	5.791000	0.69045	2.560000	0.86352	0.544000	0.68410	GAG	PHF20L1	-	superfamily_Znf_FYVE_PHD		0.398	PHF20L1-008	PUTATIVE	basic|appris_principal|CCDS	protein_coding	PHF20L1	HGNC	protein_coding	OTTHUMT00000308949.3	G	NM_016018		133848895	+1	no_errors	ENST00000220847	ensembl	human	known	70_37	nonsense	SNP	1.000	T
PHF8	23133	genome.wustl.edu	37	X	54011586	54011586	+	Missense_Mutation	SNP	G	G	A	rs377130882		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:54011586G>A	ENST00000357988.5	-	18	2670	c.2312C>T	c.(2311-2313)tCg>tTg	p.S771L	PHF8_ENST00000322659.8_Missense_Mutation_p.S718L|PHF8_ENST00000338154.6_Missense_Mutation_p.S735L|PHF8_ENST00000338946.6_Missense_Mutation_p.S634L	NM_001184896.1	NP_001171825.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	771	Ser-rich.				brain development (GO:0007420)|G1/S transition of mitotic cell cycle (GO:0000082)|histone H3-K27 demethylation (GO:0071557)|histone H3-K36 demethylation (GO:0070544)|histone H3-K9 demethylation (GO:0033169)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of chromatin silencing at rDNA (GO:0061188)|positive regulation of transcription from RNA polymerase I promoter (GO:0045943)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone demethylase activity (GO:0032452)|histone demethylase activity (H3-K27 specific) (GO:0071558)|histone demethylase activity (H3-K36 specific) (GO:0051864)|histone demethylase activity (H3-K9 specific) (GO:0032454)|histone demethylase activity (H4-K20 specific) (GO:0035575)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CGGTGAGGACGATGAGGACTG	0.612																																																	0													51.0	39.0	43.0					X																	54011586		2203	4300	6503	SO:0001583	missense	23133			AB029034	CCDS14355.1, CCDS55418.1, CCDS55419.1, CCDS55420.1	Xp11.22	2013-01-28			ENSG00000172943	ENSG00000172943		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	20672	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1F"""	300560				10470851, 20023638, 20644565	Standard	NM_015107		Approved	ZNF422, KIAA1111, JHDM1F	uc004dsu.3	Q9UPP1	OTTHUMG00000021622	ENST00000357988.5:c.2312C>T	X.37:g.54011586G>A	ENSP00000350676:p.Ser771Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMV4|B7Z911|Q5H9U5|Q5JPR9|Q5JPS0|Q5JPS2|Q5JPS3|Q5VUJ4|Q7Z6D4|Q9HAH2	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_Znf_PHD-finger	p.S771L	ENST00000357988.5	37	c.2312	CCDS55420.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.22|16.22	3.061792|3.061792	0.55432|0.55432	.|.	.|.	ENSG00000172943|ENSG00000172943	ENST00000396282;ENST00000375189|ENST00000357988;ENST00000338154;ENST00000338946;ENST00000396277;ENST00000322659	.|T;T;T;T	.|0.27104	.|2.35;2.1;2.07;1.69	5.74|5.74	5.74|5.74	0.90152|0.90152	.|.	.|0.196102	.|0.46145	.|D	.|0.000314	T|T	0.37210|0.37210	0.0995|0.0995	L|L	0.38175|0.38175	1.15|1.15	0.29027|0.29027	N|N	0.885935|0.885935	.|B;D;D;D;D	.|0.71674	.|0.057;0.998;0.997;0.998;0.997	.|B;P;P;P;P	.|0.60682	.|0.046;0.878;0.68;0.878;0.758	T|T	0.16100|0.16100	-1.0414|-1.0414	6|10	0.87932|0.28530	D|T	0|0.3	-2.7863|-2.7863	16.1391|16.1391	0.81512|0.81512	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|257;735;634;670;771	.|B3KMV4;Q9UPP1-2;B7Z911;Q9UPP1-3;Q9UPP1	.|.;.;.;.;PHF8_HUMAN	C|L	639;211|771;735;634;664;718	.|ENSP00000350676:S771L;ENSP00000338868:S735L;ENSP00000340051:S634L;ENSP00000319473:S718L	ENSP00000364335:R211C|ENSP00000319473:S718L	R|S	-|-	1|2	0|0	PHF8|PHF8	54028311|54028311	1.000000|1.000000	0.71417|0.71417	0.946000|0.946000	0.38457|0.38457	0.917000|0.917000	0.54804|0.54804	6.080000|6.080000	0.71299|0.71299	2.414000|2.414000	0.81942|0.81942	0.600000|0.600000	0.82982|0.82982	CGT|TCG	PHF8	-	NULL		0.612	PHF8-001	KNOWN	basic|CCDS	protein_coding	PHF8	HGNC	protein_coding	OTTHUMT00000056784.2	G	NM_015107		54011586	-1	no_errors	ENST00000357988	ensembl	human	known	70_37	missense	SNP	0.995	A
PHLPP1	23239	genome.wustl.edu	37	18	60645786	60645786	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:60645786G>C	ENST00000262719.5	+	17	4510	c.4276G>C	c.(4276-4278)Gag>Cag	p.E1426Q	PHLPP1_ENST00000400316.4_Missense_Mutation_p.E914Q			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1426					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						CAGTGTCACTGAGGACAGCTT	0.627																																																	0													23.0	27.0	26.0					18																	60645786		2130	4234	6364	SO:0001583	missense	23239			AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.4276G>C	18.37:g.60645786G>C	ENSP00000262719:p.Glu1426Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	pfam_PP2C-like,pfam_Leu-rich_rpt,superfamily_PP2C-like,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like,pfscan_Pleckstrin_homology	p.E1426Q	ENST00000262719.5	37	c.4276	CCDS45881.2	18	.	.	.	.	.	.	.	.	.	.	G	18.78	3.697897	0.68386	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.30981	1.7;1.51	4.61	4.61	0.57282	.	.	.	.	.	T	0.33731	0.0873	L	0.52126	1.63	0.51012	D	0.999906	P	0.48503	0.911	B	0.43838	0.433	T	0.10042	-1.0647	9	0.34782	T	0.22	-21.6961	17.6551	0.88175	0.0:0.0:1.0:0.0	.	1426	O60346	PHLP1_HUMAN	Q	914;1426	ENSP00000383170:E914Q;ENSP00000262719:E1426Q	ENSP00000262719:E1426Q	E	+	1	0	PHLPP1	58796766	1.000000	0.71417	0.988000	0.46212	0.996000	0.88848	7.505000	0.81655	2.392000	0.81423	0.655000	0.94253	GAG	PHLPP1	-	NULL		0.627	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PHLPP1	HGNC	protein_coding	OTTHUMT00000319249.2	G	NM_194449		60645786	+1	no_errors	ENST00000262719	ensembl	human	known	70_37	missense	SNP	0.999	C
PHTF1	10745	genome.wustl.edu	37	1	114255982	114255982	+	Missense_Mutation	SNP	C	C	G	rs550481729		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:114255982C>G	ENST00000369604.1	-	8	1185	c.702G>C	c.(700-702)aaG>aaC	p.K234N	PHTF1_ENST00000357783.2_Missense_Mutation_p.K234N|PHTF1_ENST00000393357.2_Missense_Mutation_p.K234N|PHTF1_ENST00000447664.2_Intron|PHTF1_ENST00000369598.1_Missense_Mutation_p.K189N|PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369596.2_Missense_Mutation_p.K181N|PHTF1_ENST00000369600.1_Missense_Mutation_p.K181N			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	234					transcription, DNA-templated (GO:0006351)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGTCTCCTCTTAATGATAG	0.343																																																	0													144.0	140.0	141.0					1																	114255982		2203	4300	6503	SO:0001583	missense	10745			AJ011863	CCDS861.1	1p13-p11	2008-07-18			ENSG00000116793	ENSG00000116793			8939	protein-coding gene	gene with protein product		604950		PHTF		10395808	Standard	NM_006608		Approved		uc009wgp.1	Q9UMS5	OTTHUMG00000011800	ENST00000369604.1:c.702G>C	1.37:g.114255982C>G	ENSP00000358617:p.Lys234Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VWP7|Q5VWP8|Q9BUP2|Q9H1X8	Missense_Mutation	SNP	pfam_TF_homeodomain_male	p.K234N	ENST00000369604.1	37	c.702	CCDS861.1	1	.	.	.	.	.	.	.	.	.	.	C	15.52	2.858628	0.51376	.	.	ENSG00000116793	ENST00000369597;ENST00000393357;ENST00000369596;ENST00000369598;ENST00000369600;ENST00000369604;ENST00000357783	.	.	.	5.55	4.64	0.57946	.	0.312609	0.35436	N	0.003201	T	0.44350	0.1289	L	0.27053	0.805	0.80722	D	1	P;D;D	0.62365	0.935;0.967;0.991	P;P;D	0.63283	0.704;0.704;0.913	T	0.37056	-0.9722	9	0.39692	T	0.17	-22.718	10.5341	0.44994	0.0:0.8531:0.0:0.1469	.	189;234;234	F5H7M5;Q9UMS5;Q9UMS5-2	.;PHTF1_HUMAN;.	N	189;234;181;189;181;234;234	.	ENSP00000350428:K234N	K	-	3	2	PHTF1	114057505	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	1.763000	0.38461	2.624000	0.88883	0.467000	0.42956	AAG	PHTF1	-	NULL		0.343	PHTF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHTF1	HGNC	protein_coding	OTTHUMT00000032666.1	C	NM_006608		114255982	-1	no_errors	ENST00000369604	ensembl	human	known	70_37	missense	SNP	0.998	G
PIANP	196500	genome.wustl.edu	37	12	6804739	6804739	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:6804739C>G	ENST00000540656.1	-	5	1022	c.684G>C	c.(682-684)ctG>ctC	p.L228L	PIANP_ENST00000320591.5_Silent_p.L228L|PIANP_ENST00000534837.1_Silent_p.L228L	NM_001244015.1	NP_001230944.1	Q8IYJ0	PIANP_HUMAN	PILR alpha associated neural protein	228						integral component of membrane (GO:0016021)		p.L228L(1)									ACAGGTCTGTCAGTGGCTGCT	0.682																																																	1	Substitution - coding silent(1)	kidney(1)											39.0	42.0	41.0					12																	6804739		2006	4162	6168	SO:0001819	synonymous_variant	196500			BC035736	CCDS44818.1, CCDS58205.1	12p13.31	2012-08-17	2012-08-17	2012-08-17	ENSG00000139200	ENSG00000139200			25338	protein-coding gene	gene with protein product	"""PILR-associating neural protein"""		"""chromosome 12 open reading frame 53"""	C12orf53		12975309	Standard	NM_153685		Approved	DKFZp547D2210, PANP	uc001qqf.2	Q8IYJ0	OTTHUMG00000168664	ENST00000540656.1:c.684G>C	12.37:g.6804739C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0T3|B3KPF7|B3KRI6|Q6UX35	Silent	SNP	NULL	p.L228	ENST00000540656.1	37	c.684	CCDS44818.1	12																																																																																			PIANP	-	NULL		0.682	PIANP-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	PIANP	HGNC	protein_coding	OTTHUMT00000400524.1	C	NM_153685		6804739	-1	no_errors	ENST00000320591	ensembl	human	known	70_37	silent	SNP	1.000	G
PIK3C2A	5286	genome.wustl.edu	37	11	17190537	17190537	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:17190537G>A	ENST00000265970.7	-	1	751	c.752C>T	c.(751-753)tCa>tTa	p.S251L	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	251		Not phosphorylated.			clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						GCTGACTTTTGAATCTGTTAT	0.363																																																	0													69.0	62.0	65.0					11																	17190537		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.752C>T	11.37:g.17190537G>A	ENSP00000265970:p.Ser251Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.S251L	ENST00000265970.7	37	c.752	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425219	0.43020	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.64618	-0.11	5.49	5.49	0.81192	.	0.733014	0.13273	N	0.400344	T	0.51075	0.1653	L	0.29908	0.895	0.80722	D	1	P;B	0.42296	0.775;0.104	B;B	0.37304	0.246;0.023	T	0.55897	-0.8068	10	0.66056	D	0.02	-3.1363	13.1127	0.59283	0.0833:0.0:0.9167:0.0	.	251;251	F5H5W9;O00443	.;P3C2A_HUMAN	L	251	ENSP00000265970:S251L	ENSP00000265970:S251L	S	-	2	0	PIK3C2A	17147113	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	4.931000	0.63469	2.570000	0.86706	0.563000	0.77884	TCA	PIK3C2A	-	NULL		0.363	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	G	NM_002645		17190537	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	missense	SNP	0.968	A
PIK3C2A	5286	genome.wustl.edu	37	11	17190670	17190670	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:17190670G>T	ENST00000265970.7	-	1	618	c.619C>A	c.(619-621)Cat>Aat	p.H207N	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	207					clathrin coat assembly (GO:0048268)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|exocytosis (GO:0006887)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|small molecule metabolic process (GO:0044281)|vascular smooth muscle contraction (GO:0014829)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol binding (GO:0035091)			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						CCTTGTGGATGAAAGGGTGTG	0.383																																																	0													64.0	64.0	64.0					11																	17190670		2200	4293	6493	SO:0001583	missense	5286			Y13367	CCDS7824.1	11p15.5-p14	2012-07-13	2012-07-13			ENSG00000011405	2.7.1.154		8971	protein-coding gene	gene with protein product		603601	"""phosphoinositide-3-kinase, class 2, alpha polypeptide"""			9337861	Standard	NM_002645		Approved	PI3K-C2alpha	uc001mmq.4	O00443		ENST00000265970.7:c.619C>A	11.37:g.17190670G>T	ENSP00000265970:p.His207Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPH2|B4E2G4|Q14CQ9	Missense_Mutation	SNP	pfam_PI3/4_kinase_cat_dom,pfam_PInositide-3_kin_accessory_dom,pfam_PI3K_C2_dom,pfam_PI3K_Ras-bd_dom,pfam_Phox,pfam_C2_Ca-dep,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Phox,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_C2_Ca-dep,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,smart_Phox,pfscan_C2_membr_targeting,pfscan_Phox,pfscan_PI3/4_kinase_cat_dom	p.H207N	ENST00000265970.7	37	c.619	CCDS7824.1	11	.	.	.	.	.	.	.	.	.	.	G	14.63	2.593127	0.46214	.	.	ENSG00000011405	ENST00000265970;ENST00000544896	T	0.62639	0.01	5.53	4.62	0.57501	.	0.349501	0.33712	N	0.004628	T	0.44787	0.1310	L	0.27053	0.805	0.80722	D	1	P;B	0.39216	0.664;0.09	B;B	0.32289	0.143;0.028	T	0.34650	-0.9820	10	0.20046	T	0.44	-11.9324	14.3048	0.66377	0.0716:0.0:0.9284:0.0	.	207;207	F5H5W9;O00443	.;P3C2A_HUMAN	N	207	ENSP00000265970:H207N	ENSP00000265970:H207N	H	-	1	0	PIK3C2A	17147246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.780000	0.68956	1.335000	0.45486	0.591000	0.81541	CAT	PIK3C2A	-	NULL		0.383	PIK3C2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C2A	HGNC	protein_coding	OTTHUMT00000387553.1	G	NM_002645		17190670	-1	no_errors	ENST00000265970	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3CB	5291	genome.wustl.edu	37	3	138433528	138433528	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:138433528C>T	ENST00000477593.1	-	8	1157	c.1084G>A	c.(1084-1086)Gag>Aag	p.E362K	PIK3CB_ENST00000289153.2_Missense_Mutation_p.E362K|PIK3CB_ENST00000544716.1_5'Flank			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	362	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	CACAGGAGCTCAGTACCATGA	0.368																																																	0													130.0	132.0	131.0					3																	138433528		2203	4299	6502	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.1084G>A	3.37:g.138433528C>T	ENSP00000418143:p.Glu362Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E362K	ENST00000477593.1	37	c.1084	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	C	22.1	4.241467	0.79912	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.68624	-0.34;-0.34	5.62	5.62	0.85841	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (2);	0.000000	0.85682	D	0.000000	T	0.62636	0.2444	L	0.37750	1.13	0.80722	D	1	B	0.32653	0.379	B	0.40329	0.326	T	0.55471	-0.8136	10	0.07990	T	0.79	-18.8381	20.0114	0.97452	0.0:1.0:0.0:0.0	.	362	P42338	PK3CB_HUMAN	K	362	ENSP00000418143:E362K;ENSP00000289153:E362K	ENSP00000289153:E362K	E	-	1	0	PIK3CB	139916218	1.000000	0.71417	0.975000	0.42487	0.888000	0.51559	7.393000	0.79851	2.795000	0.96236	0.655000	0.94253	GAG	PIK3CB	-	pfam_PI3K_C2_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom		0.368	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	C			138433528	-1	no_errors	ENST00000289153	ensembl	human	known	70_37	missense	SNP	1.000	T
PIK3CB	5291	genome.wustl.edu	37	3	138453525	138453525	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:138453525G>A	ENST00000477593.1	-	6	996	c.923C>T	c.(922-924)tCa>tTa	p.S308L	PIK3CB_ENST00000289153.2_Missense_Mutation_p.S308L			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	308					activation of MAPK activity (GO:0000187)|autophagy (GO:0006914)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|cellular calcium ion homeostasis (GO:0006874)|chemotaxis (GO:0006935)|embryonic cleavage (GO:0040016)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|positive regulation of autophagy (GO:0010508)|regulation of cell-matrix adhesion (GO:0001952)|regulation of clathrin-mediated endocytosis (GO:2000369)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytosol (GO:0005829)|nucleus (GO:0005634)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41					Caffeine(DB00201)	AAGATTAGATGAATTTCGATT	0.368																																																	0													160.0	159.0	159.0					3																	138453525		2203	4300	6503	SO:0001583	missense	5291				CCDS3104.1	3q22.3	2013-09-19	2012-07-13		ENSG00000051382	ENSG00000051382	2.7.1.153		8976	protein-coding gene	gene with protein product		602925	"""phosphoinositide-3-kinase, catalytic, beta polypeptide"""	PIK3C1		8246984	Standard	NM_006219		Approved		uc011bmq.3	P42338	OTTHUMG00000159893	ENST00000477593.1:c.923C>T	3.37:g.138453525G>A	ENSP00000418143:p.Ser308Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNF0|Q24JU2	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_adapt-bd_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_ARM-type_fold,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.S308L	ENST00000477593.1	37	c.923	CCDS3104.1	3	.	.	.	.	.	.	.	.	.	.	G	14.89	2.669801	0.47677	.	.	ENSG00000051382	ENST00000477593;ENST00000289153	T;T	0.63096	-0.02;-0.02	5.97	5.97	0.96955	.	0.062818	0.64402	D	0.000003	T	0.46541	0.1398	N	0.08118	0	0.80722	D	1	B	0.06786	0.001	B	0.08055	0.003	T	0.30001	-0.9993	10	0.32370	T	0.25	-5.1364	20.4324	0.99085	0.0:0.0:1.0:0.0	.	308	P42338	PK3CB_HUMAN	L	308	ENSP00000418143:S308L;ENSP00000289153:S308L	ENSP00000289153:S308L	S	-	2	0	PIK3CB	139936215	1.000000	0.71417	0.994000	0.49952	0.180000	0.23129	7.558000	0.82253	2.833000	0.97629	0.585000	0.79938	TCA	PIK3CB	-	NULL		0.368	PIK3CB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3CB	HGNC	protein_coding	OTTHUMT00000358019.1	G			138453525	-1	no_errors	ENST00000289153	ensembl	human	known	70_37	missense	SNP	1.000	A
PIK3R2	5296	genome.wustl.edu	37	19	18271291	18271291	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:18271291C>G	ENST00000593731.1	+	3	893	c.333C>G	c.(331-333)ctC>ctG	p.L111L	PIK3R2_ENST00000222254.8_Silent_p.L111L			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	111	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|phosphatidylinositol 3-kinase complex (GO:0005942)	phosphatidylinositol 3-kinase regulator activity (GO:0035014)|receptor tyrosine kinase binding (GO:0030971)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24					Isoprenaline(DB01064)	GCCTCACACTCCCCGACTTGC	0.612																																																	0													107.0	91.0	97.0					19																	18271291		2203	4300	6503	SO:0001819	synonymous_variant	5296				CCDS12371.1	19p13.11	2013-03-28	2008-02-04		ENSG00000105647	ENSG00000105647		"""SH2 domain containing"""	8980	protein-coding gene	gene with protein product		603157				1314371	Standard	NM_005027		Approved	P85B, p85	uc002nia.2	O00459	OTTHUMG00000183383	ENST00000593731.1:c.333C>G	19.37:g.18271291C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5EAT5|Q9UPH9	Silent	SNP	pfam_SH2,pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,smart_SH3_domain,smart_RhoGAP_dom,smart_SH2,pfscan_SH2,pfscan_SH3_domain,pfscan_RhoGAP_dom,prints_PI3kinase_P85,prints_SH2	p.L111	ENST00000593731.1	37	c.333	CCDS12371.1	19																																																																																			PIK3R2	-	superfamily_Rho_GTPase_activation_prot,pfscan_RhoGAP_dom		0.612	PIK3R2-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	PIK3R2	HGNC	protein_coding	OTTHUMT00000466386.2	C	NM_005027		18271291	+1	no_errors	ENST00000222254	ensembl	human	known	70_37	silent	SNP	0.983	G
PINK1	65018	genome.wustl.edu	37	1	20976831	20976831	+	Intron	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:20976831G>T	ENST00000321556.4	+	8	1582				PINK1_ENST00000492302.1_Intron|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1						activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAATTGGGTTGGGACCAGAGA	0.507																																					Esophageal Squamous(145;853 1803 8146 34412 35011)												0																																										SO:0001627	intron_variant	100861548			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.1489-96G>T	1.37:g.20976831G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6T9|Q8NBU3|Q96DE4	RNA	SNP	-	NULL	ENST00000321556.4	37	NULL	CCDS211.1	1																																																																																			PINK1-AS	-	-		0.507	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1-AS	HGNC	protein_coding	OTTHUMT00000007954.1	G	NM_032409		20976831	-1	no_errors	ENST00000451424	ensembl	human	known	70_37	rna	SNP	0.047	T
GSAP	54103	genome.wustl.edu	37	7	76982319	76982319	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:76982319G>C	ENST00000257626.7	-	18	1511	c.1433C>G	c.(1432-1434)tCa>tGa	p.S478*		NM_017439.3	NP_059135.2	A4D1B5	GSAP_HUMAN	gamma-secretase activating protein	478					positive regulation of beta-amyloid formation (GO:1902004)|regulation of proteolysis (GO:0030162)	trans-Golgi network (GO:0005802)	beta-amyloid binding (GO:0001540)										ACTTGTCTCTGAATATACACT	0.353																																																	0													205.0	179.0	188.0					7																	76982319		2203	4300	6503	SO:0001587	stop_gained	54103				CCDS34672.2	7q11.23	2013-04-05	2013-04-05	2013-04-05	ENSG00000186088	ENSG00000186088			28042	protein-coding gene	gene with protein product		613552	"""pigeon homolog (Drosophila)"""	PION		20811458	Standard	NM_017439		Approved	LOC54103	uc003ugf.3	A4D1B5	OTTHUMG00000150504	ENST00000257626.7:c.1433C>G	7.37:g.76982319G>C	ENSP00000257626:p.Ser478*	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1B6|Q3MJC0|Q8ND73|Q9UMH3|Q9Y4L9	Nonsense_Mutation	SNP	NULL	p.S478*	ENST00000257626.7	37	c.1433	CCDS34672.2	7	.	.	.	.	.	.	.	.	.	.	G	37	6.053063	0.97241	.	.	ENSG00000186088	ENST00000257626	.	.	.	5.96	3.85	0.44370	.	0.584215	0.15226	U	0.273662	.	.	.	.	.	.	0.19775	N	0.999959	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	8.1695	0.31247	0.2455:0.0:0.7545:0.0	.	.	.	.	X	478	.	ENSP00000257626:S478X	S	-	2	0	PION	76820255	1.000000	0.71417	0.157000	0.22605	0.978000	0.69477	2.867000	0.48428	1.530000	0.49136	0.655000	0.94253	TCA	PION	-	NULL		0.353	GSAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PION	HGNC	protein_coding	OTTHUMT00000318672.2	G	NM_017439		76982319	-1	no_errors	ENST00000257626	ensembl	human	known	70_37	nonsense	SNP	0.026	C
PIPSL	266971	genome.wustl.edu	37	10	95719284	95719284	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:95719284C>G	ENST00000480546.1	-	0	2013					NR_002319.2		A2A3N6	PIPSL_HUMAN	PIP5K1A and PSMD4-like, pseudogene							cytoplasm (GO:0005737)	phosphatidylinositol phosphate kinase activity (GO:0016307)										TTGATAATGTCAACATTTACT	0.448																																																	0																																												266971			BC068549		10q23.33	2010-10-27	2010-10-27	2007-07-06	ENSG00000180764	ENSG00000180764		"""Proteasome (prosome, macropain) subunits"""	23733	pseudogene	pseudogene			"""proteasome (prosome, macropain) 26S subunit, non-ATPase, 4, pseudogene 2"", ""phosphatidylinositol-4-phosphate 5-kinase, type I-like 1"", ""PIP5K1A and PSMD4-like"""	PSMD4P2, PIP5K1L1		16344562	Standard	NR_002319		Approved	PIP5K1A-PSMD4, PIP5K1P3	uc009xuj.2	A2A3N6	OTTHUMG00000137480		10.37:g.95719284C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NUK8	RNA	SNP	-	NULL	ENST00000480546.1	37	NULL		10																																																																																			PIPSL	-	-		0.448	PIPSL-002	PUTATIVE	basic	processed_transcript	PIPSL	HGNC	pseudogene	OTTHUMT00000351483.1	C	NR_002319		95719284	-1	no_errors	ENST00000480546	ensembl	human	putative	70_37	rna	SNP	1.000	G
PIRT	644139	genome.wustl.edu	37	17	10728932	10728932	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:10728932C>G	ENST00000580256.2	-	2	669	c.31G>C	c.(31-33)Gag>Cag	p.E11Q		NM_001101387.1	NP_001094857.1	P0C851	PIRT_HUMAN	phosphoinositide-interacting regulator of transient receptor potential channels	11						integral component of membrane (GO:0016021)				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						TCATCGACCTCTAGAACCTTG	0.577																																																	0													26.0	25.0	25.0					17																	10728932		1933	4128	6061	SO:0001583	missense	644139			AK021549	CCDS45614.1	17p12	2010-06-04			ENSG00000233670	ENSG00000233670			37239	protein-coding gene	gene with protein product	"""phosphoinositide-interacting regulator of TRPV1"""	612068				18455988	Standard	NM_001101387		Approved		uc010col.3	P0C851		ENST00000580256.2:c.31G>C	17.37:g.10728932C>G	ENSP00000462046:p.Glu11Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z648	Missense_Mutation	SNP	NULL	p.E11Q	ENST00000580256.2	37	c.31	CCDS45614.1	17	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759932	0.31137	.	.	ENSG00000233670	ENST00000441732	.	.	.	5.33	4.3	0.51218	.	.	.	.	.	T	0.34542	0.0901	N	0.19112	0.55	0.28867	N	0.895184	D	0.61080	0.989	P	0.56563	0.801	T	0.06338	-1.0832	8	0.36615	T	0.2	-7.2751	8.0478	0.30559	0.0:0.8905:0.0:0.1095	.	11	P0C851	PIRT_HUMAN	Q	11	.	ENSP00000408936:E11Q	E	-	1	0	PIRT	10669657	0.920000	0.31207	0.999000	0.59377	0.435000	0.31806	2.674000	0.46867	2.771000	0.95319	0.561000	0.74099	GAG	PIRT	-	NULL		0.577	PIRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIRT	HGNC	protein_coding	OTTHUMT00000441078.2	C	NM_001101387		10728932	-1	no_errors	ENST00000580256	ensembl	human	known	70_37	missense	SNP	0.990	G
PKD1	5310	genome.wustl.edu	37	16	2142996	2142996	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2142996G>A	ENST00000262304.4	-	38	11323	c.11115C>T	c.(11113-11115)atC>atT	p.I3705I	RP11-304L19.3_ENST00000565937.1_RNA|MIR1225_ENST00000408729.1_RNA|RP11-304L19.1_ENST00000570072.1_RNA|PKD1_ENST00000423118.1_Silent_p.I3704I	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3705					anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTCCTGCTTGATGGCGCTTT	0.597																																																	0													109.0	112.0	111.0					16																	2142996		2198	4300	6498	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.11115C>T	16.37:g.2142996G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.I3705	ENST00000262304.4	37	c.11115	CCDS32369.1	16																																																																																			PKD1	-	NULL		0.597	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2142996	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	1.000	A
PKNOX1	5316	genome.wustl.edu	37	21	44430304	44430304	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:44430304C>G	ENST00000291547.5	+	4	532	c.321C>G	c.(319-321)ttC>ttG	p.F107L	PKNOX1_ENST00000432907.2_Intron	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	107					angiogenesis (GO:0001525)|camera-type eye development (GO:0043010)|erythrocyte differentiation (GO:0030218)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						GGAAACCTTTCTTTTGTGAAG	0.323																																																	0													43.0	41.0	42.0					21																	44430304		2203	4300	6503	SO:0001583	missense	5316				CCDS13692.1, CCDS68211.1	21q22.3	2011-06-20			ENSG00000160199	ENSG00000160199		"""Homeoboxes / TALE class"""	9022	protein-coding gene	gene with protein product		602100				9479508	Standard	NM_001286258		Approved	PREP1	uc002zcq.1	P55347	OTTHUMG00000086833	ENST00000291547.5:c.321C>G	21.37:g.44430304C>G	ENSP00000291547:p.Phe107Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O00528|Q8IWT7	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.F107L	ENST00000291547.5	37	c.321	CCDS13692.1	21	.	.	.	.	.	.	.	.	.	.	C	14.62	2.591254	0.46214	.	.	ENSG00000160199	ENST00000291547	T	0.30448	1.53	5.5	2.33	0.28932	.	0.000000	0.85682	D	0.000000	T	0.35913	0.0948	L	0.39692	1.235	0.80722	D	1	D;D;D	0.69078	0.974;0.997;0.99	D;D;D	0.72982	0.969;0.97;0.979	T	0.21245	-1.0251	10	0.17832	T	0.49	-6.8424	5.3297	0.15926	0.0:0.4281:0.0:0.5719	.	107;107;107	Q5DNB2;P55347;P55347-2	.;PKNX1_HUMAN;.	L	107	ENSP00000291547:F107L	ENSP00000291547:F107L	F	+	3	2	PKNOX1	43303373	1.000000	0.71417	0.998000	0.56505	0.952000	0.60782	1.226000	0.32563	0.706000	0.31912	0.561000	0.74099	TTC	PKNOX1	-	NULL		0.323	PKNOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PKNOX1	HGNC	protein_coding	OTTHUMT00000195520.3	C			44430304	+1	no_errors	ENST00000291547	ensembl	human	known	70_37	missense	SNP	1.000	G
PKP2	5318	genome.wustl.edu	37	12	32945601	32945601	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:32945601C>T	ENST00000070846.6	-	13	2578	c.2554G>A	c.(2554-2556)Gaa>Aaa	p.E852K	PKP2_ENST00000340811.4_Missense_Mutation_p.E808K	NM_004572.3	NP_004563.2	Q99959	PKP2_HUMAN	plakophilin 2	852					adherens junction maintenance (GO:0034334)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential (GO:0086001)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cell-cell signaling involved in cardiac conduction (GO:0086019)|desmosome assembly (GO:0002159)|gap junction assembly (GO:0016264)|heart development (GO:0007507)|intermediate filament bundle assembly (GO:0045110)|lipid homeostasis (GO:0055088)|maintenance of organ identity (GO:0048496)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of sodium ion transport (GO:0010765)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of tight junction assembly (GO:2000810)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)	adherens junction (GO:0005912)|cell junction (GO:0030054)|cell-cell junction (GO:0005911)|desmosome (GO:0030057)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|protein kinase C binding (GO:0005080)|sodium channel regulator activity (GO:0017080)			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGATGCAGTTCCGTGTGTGCC	0.453																																																	0													150.0	133.0	139.0					12																	32945601		2203	4300	6503	SO:0001583	missense	5318			X97675	CCDS8731.1, CCDS31771.1	12p11	2014-09-17				ENSG00000057294		"""Armadillo repeat containing"""	9024	protein-coding gene	gene with protein product		602861				8922383	Standard	NM_001005242		Approved		uc001rlj.4	Q99959	OTTHUMG00000169500	ENST00000070846.6:c.2554G>A	12.37:g.32945601C>T	ENSP00000070846:p.Glu852Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV37|B8QFA1|B8QGS6|B8QGS7|D3DUW9|Q4VC01|Q99960	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.E852K	ENST00000070846.6	37	c.2554	CCDS8731.1	12	.	.	.	.	.	.	.	.	.	.	C	16.76	3.211676	0.58452	.	.	ENSG00000057294	ENST00000340811;ENST00000070846	T;T	0.54479	0.57;0.57	5.42	5.42	0.78866	Armadillo-type fold (1);	0.190984	0.44902	D	0.000417	T	0.50326	0.1609	L	0.29908	0.895	0.50313	D	0.999864	P;P;P	0.50943	0.94;0.9;0.9	P;B;B	0.46718	0.525;0.325;0.438	T	0.55522	-0.8128	10	0.72032	D	0.01	-0.1033	18.0024	0.89201	0.0:1.0:0.0:0.0	.	808;808;852	Q99959-2;A0AV37;Q99959	.;.;PKP2_HUMAN	K	808;852	ENSP00000342800:E808K;ENSP00000070846:E852K	ENSP00000070846:E852K	E	-	1	0	PKP2	32836868	0.998000	0.40836	0.927000	0.36925	0.184000	0.23303	4.851000	0.62896	2.536000	0.85505	0.655000	0.94253	GAA	PKP2	-	superfamily_ARM-type_fold		0.453	PKP2-002	KNOWN	basic|CCDS	protein_coding	PKP2	HGNC	protein_coding	OTTHUMT00000404449.1	C	NM_004572		32945601	-1	no_errors	ENST00000070846	ensembl	human	known	70_37	missense	SNP	0.987	T
PLA2G4A	5321	genome.wustl.edu	37	1	186901988	186901988	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:186901988C>T	ENST00000367466.3	+	8	804	c.652C>T	c.(652-654)Ctg>Ttg	p.L218L	PLA2G4A_ENST00000442353.2_Silent_p.L158L|PLA2G4A_ENST00000466600.1_Intron	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	218	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|blood coagulation (GO:0007596)|cardiolipin acyl-chain remodeling (GO:0035965)|cellular response to antibiotic (GO:0071236)|glycerophospholipid biosynthetic process (GO:0046474)|icosanoid biosynthetic process (GO:0046456)|icosanoid metabolic process (GO:0006690)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid catabolic process (GO:0009395)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|platelet activation (GO:0030168)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase A2 activity (GO:0047498)|calcium-dependent phospholipid binding (GO:0005544)|lysophospholipase activity (GO:0004622)|phospholipase A2 activity (GO:0004623)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Aldesleukin(DB00041)|Carbachol(DB00411)|Carbenicillin(DB00578)|Epirubicin(DB00445)|Fluocinolone Acetonide(DB00591)|Fluticasone Propionate(DB00588)|Niflumic Acid(DB04552)|Orlistat(DB01083)|Quinacrine(DB01103)|Streptokinase(DB00086)|Suramin(DB04786)	ATCAGGAATTCTGGATTGTGC	0.408																																																	0													228.0	221.0	224.0					1																	186901988		2203	4300	6503	SO:0001819	synonymous_variant	5321			M72393	CCDS1372.1	1q25	2014-09-17			ENSG00000116711	ENSG00000116711	3.1.1.4, 3.1.1.5		9035	protein-coding gene	gene with protein product		600522		PLA2G4		8175726	Standard	NM_024420		Approved	cPLA2-alpha	uc001gsc.3	P47712	OTTHUMG00000035512	ENST00000367466.3:c.652C>T	1.37:g.186901988C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKG4|Q29R80	Silent	SNP	pfam_LysoPLipase_cat_dom,pfam_C2_Ca-dep,superfamily_Acyl_Trfase/lysoPLipase,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_LysoPLipase_cat_dom,pfscan_C2_membr_targeting,pfscan_LysoPLipase_cat_dom	p.L218	ENST00000367466.3	37	c.652	CCDS1372.1	1																																																																																			PLA2G4A	-	pfam_LysoPLipase_cat_dom,superfamily_Acyl_Trfase/lysoPLipase,smart_LysoPLipase_cat_dom,pfscan_LysoPLipase_cat_dom		0.408	PLA2G4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G4A	HGNC	protein_coding	OTTHUMT00000086236.1	C	NM_024420		186901988	+1	no_errors	ENST00000367466	ensembl	human	known	70_37	silent	SNP	1.000	T
PLAC1	10761	genome.wustl.edu	37	X	133700283	133700283	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:133700283C>A	ENST00000359237.4	-	3	715	c.430G>T	c.(430-432)Gag>Tag	p.E144*	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1			placenta-specific 1											large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TAGCATTTCTCATCCTTCTGG	0.557																																																	0													166.0	124.0	138.0					X																	133700283		2203	4300	6503	SO:0001587	stop_gained	10761			AF234654	CCDS14642.1	Xq26.3	2013-10-14			ENSG00000170965	ENSG00000170965			9044	protein-coding gene	gene with protein product	"""cancer/testis antigen 92"""	300296				10995572	Standard	NM_021796		Approved	CT92, OOSP2L	uc004exo.1	Q9HBJ0	OTTHUMG00000022457	ENST00000359237.4:c.430G>T	X.37:g.133700283C>A	ENSP00000352173:p.Glu144*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E144*	ENST00000359237.4	37	c.430	CCDS14642.1	X	.	.	.	.	.	.	.	.	.	.	C	18.64	3.667503	0.67814	.	.	ENSG00000170965	ENST00000359237	.	.	.	4.64	0.973	0.19710	.	0.909363	0.09034	N	0.858379	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-2.7573	6.3025	0.21121	0.0:0.5601:0.0:0.4399	.	.	.	.	X	144	.	ENSP00000352173:E144X	E	-	1	0	PLAC1	133527949	0.001000	0.12720	0.002000	0.10522	0.126000	0.20510	0.530000	0.23036	0.037000	0.15575	0.600000	0.82982	GAG	PLAC1	-	NULL		0.557	PLAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAC1	HGNC	protein_coding	OTTHUMT00000058375.1	C	NM_021796		133700283	-1	no_errors	ENST00000359237	ensembl	human	known	70_37	nonsense	SNP	0.002	A
PLAT	5327	genome.wustl.edu	37	8	42045454	42045454	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:42045454C>T	ENST00000220809.4	-	5	590	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	PLAT_ENST00000429089.2_Missense_Mutation_p.E112K|PLAT_ENST00000270189.6_Missense_Mutation_p.E112K|PLAT_ENST00000524009.1_Missense_Mutation_p.E112K|PLAT_ENST00000352041.3_Missense_Mutation_p.E66K|PLAT_ENST00000519510.1_Missense_Mutation_p.E112K|PLAT_ENST00000429710.2_Intron	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	112	EGF-like. {ECO:0000255|PROSITE- ProRule:PRU00076}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|fibrinolysis (GO:0042730)|negative regulation of proteolysis (GO:0045861)|plasminogen activation (GO:0031639)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of ovulation (GO:0060279)|proteolysis (GO:0006508)|regulation of synaptic plasticity (GO:0048167)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|response to hypoxia (GO:0001666)|response to peptide hormone (GO:0043434)|smooth muscle cell migration (GO:0014909)|synaptic transmission, glutamatergic (GO:0035249)	apical part of cell (GO:0045177)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|secretory granule (GO:0030141)|synapse (GO:0045202)	serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Aminocaproic Acid(DB00513)|Ibuprofen(DB01050)|Iloprost(DB01088)|Urokinase(DB00013)	GCAAATCCTTCGGGGCACTGG	0.552																																																	0													113.0	103.0	106.0					8																	42045454		2203	4300	6503	SO:0001583	missense	5327				CCDS6126.1, CCDS6127.1	8p11.21	2012-10-02			ENSG00000104368	ENSG00000104368			9051	protein-coding gene	gene with protein product		173370					Standard	NM_033011		Approved		uc003xos.2	P00750	OTTHUMG00000164072	ENST00000220809.4:c.334G>A	8.37:g.42045454C>T	ENSP00000220809:p.Glu112Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K022|B2R8E8|Q15103|Q503B0|Q6PJA5|Q7Z7N2|Q86YK8|Q9BU99|Q9BZW1	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Kringle,pfam_Fibronectin_type1,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Fibronectin_type1,smart_Kringle,smart_Peptidase_S1_S6,pfscan_EG-like_dom,pfscan_Fibronectin_type1,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E112K	ENST00000220809.4	37	c.334	CCDS6126.1	8	.	.	.	.	.	.	.	.	.	.	C	1.501	-0.551934	0.03996	.	.	ENSG00000104368	ENST00000270189;ENST00000429089;ENST00000220809;ENST00000352041;ENST00000519510;ENST00000524009;ENST00000520523;ENST00000521694	D;D;D;D;D;D;D;D	0.93019	-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15;-3.15	5.73	2.55	0.30701	Kringle-like fold (1);EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.810482	0.11749	N	0.533272	D	0.83418	0.5250	N	0.17674	0.51	0.09310	N	1	B;B;B;B	0.22003	0.006;0.063;0.021;0.007	B;B;B;B	0.16289	0.015;0.015;0.005;0.009	T	0.68599	-0.5366	10	0.07813	T	0.8	.	5.0886	0.14696	0.0:0.295:0.4351:0.2699	.	112;112;66;112	B4DN26;B4DV92;P00750-3;P00750	.;.;.;TPA_HUMAN	K	112;112;112;66;112;112;112;112	ENSP00000270189:E112K;ENSP00000392045:E112K;ENSP00000220809:E112K;ENSP00000270188:E66K;ENSP00000428886:E112K;ENSP00000429401:E112K;ENSP00000428797:E112K;ENSP00000429801:E112K	ENSP00000220809:E112K	E	-	1	0	PLAT	42164611	0.002000	0.14202	0.404000	0.26397	0.001000	0.01503	1.355000	0.34068	0.767000	0.33267	-0.175000	0.13238	GAA	PLAT	-	pfam_EG-like_dom,superfamily_Kringle-like,pfscan_EG-like_dom		0.552	PLAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLAT	HGNC	protein_coding	OTTHUMT00000377100.1	C	NM_000930		42045454	-1	no_errors	ENST00000220809	ensembl	human	known	70_37	missense	SNP	0.000	T
PLCB1	23236	genome.wustl.edu	37	20	8665686	8665686	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:8665686C>G	ENST00000338037.6	+	10	997	c.970C>G	c.(970-972)Cac>Gac	p.H324D	PLCB1_ENST00000378637.2_Missense_Mutation_p.H324D|PLCB1_ENST00000378641.3_Missense_Mutation_p.H324D	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	324	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				activation of meiosis involved in egg activation (GO:0060466)|cerebral cortex development (GO:0021987)|fat cell differentiation (GO:0045444)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G2/M transition of mitotic cell cycle (GO:0000086)|glutamate receptor signaling pathway (GO:0007215)|inositol phosphate metabolic process (GO:0043647)|insulin-like growth factor receptor signaling pathway (GO:0048009)|interleukin-1-mediated signaling pathway (GO:0070498)|interleukin-12-mediated signaling pathway (GO:0035722)|interleukin-15-mediated signaling pathway (GO:0035723)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|memory (GO:0007613)|negative regulation of monocyte extravasation (GO:2000438)|negative regulation of transcription, DNA-templated (GO:0045892)|phosphatidylinositol metabolic process (GO:0046488)|positive regulation of acrosome reaction (GO:2000344)|positive regulation of CD24 biosynthetic process (GO:2000560)|positive regulation of developmental growth (GO:0048639)|positive regulation of embryonic development (GO:0040019)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of GTPase activity (GO:0043547)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of JNK cascade (GO:0046330)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fertilization (GO:0080154)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)|signal transducer activity (GO:0004871)			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GCCCCTTTCTCACTATTTCAT	0.423																																																	0													202.0	198.0	200.0					20																	8665686		2203	4300	6503	SO:0001583	missense	23236			AB011153	CCDS13102.1, CCDS13103.1	20p12	2008-03-18			ENSG00000182621	ENSG00000182621	3.1.4.11		15917	protein-coding gene	gene with protein product		607120				10760467, 11118617	Standard	NM_015192		Approved	KIAA0581, PLC-I, PLC154	uc002wnb.4	Q9NQ66	OTTHUMG00000031849	ENST00000338037.6:c.970C>G	20.37:g.8665686C>G	ENSP00000338185:p.His324Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW12|D3DW13|O60325|Q17RQ6|Q5TFF7|Q5TGC9|Q8IV93|Q9BQW2|Q9H4H2|Q9H8H5|Q9NQ65|Q9NQH9|Q9NTH4|Q9UJP6|Q9UM26	Missense_Mutation	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.H324D	ENST00000338037.6	37	c.970	CCDS13102.1	20	.	.	.	.	.	.	.	.	.	.	C	17.16	3.318404	0.60524	.	.	ENSG00000182621	ENST00000378641;ENST00000338037;ENST00000378637;ENST00000441163;ENST00000535719	T;T;T	0.65549	-0.16;-0.16;-0.16	5.76	5.76	0.90799	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);Phospholipase C, phosphatidylinositol-specific , X domain (3);	0.087990	0.85682	D	0.000000	T	0.63474	0.2514	L	0.58669	1.825	0.80722	D	1	B;P	0.43826	0.1;0.818	B;B	0.39840	0.141;0.311	T	0.68507	-0.5390	10	0.87932	D	0	.	20.3431	0.98773	0.0:1.0:0.0:0.0	.	324;324	Q9NQ66;Q9NQ66-2	PLCB1_HUMAN;.	D	324;324;324;244;244	ENSP00000367908:H324D;ENSP00000338185:H324D;ENSP00000367904:H324D	ENSP00000338185:H324D	H	+	1	0	PLCB1	8613686	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.776000	0.62354	2.880000	0.98712	0.650000	0.86243	CAC	PLCB1	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom		0.423	PLCB1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCB1	HGNC	protein_coding	OTTHUMT00000077938.3	C			8665686	+1	no_errors	ENST00000338037	ensembl	human	known	70_37	missense	SNP	1.000	G
PLCB2	5330	genome.wustl.edu	37	15	40591117	40591117	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:40591117G>A	ENST00000260402.3	-	9	981	c.732C>T	c.(730-732)ttC>ttT	p.F244F	PLCB2_ENST00000456256.2_Silent_p.F244F|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Silent_p.F244F	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	244					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCTGGTTGATGAATTTGGTCA	0.572																																																	0													97.0	102.0	100.0					15																	40591117		2030	4177	6207	SO:0001819	synonymous_variant	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.732C>T	15.37:g.40591117G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J2|B9EGH5	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.F244	ENST00000260402.3	37	c.732	CCDS42020.1	15																																																																																			PLCB2	-	pirsf_PLC-beta,pfam_PLipase_C_EF-hand-like		0.572	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	G			40591117	-1	no_errors	ENST00000260402	ensembl	human	known	70_37	silent	SNP	1.000	A
PLCB2	5330	genome.wustl.edu	37	15	40591367	40591367	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:40591367G>C	ENST00000260402.3	-	8	894	c.645C>G	c.(643-645)ctC>ctG	p.L215L	PLCB2_ENST00000456256.2_Silent_p.L215L|PLCB2-AS1_ENST00000559520.1_RNA|PLCB2_ENST00000557821.1_Silent_p.L215L	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	215					activation of phospholipase C activity (GO:0007202)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|sensory perception of bitter taste (GO:0050913)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GCCGAGGACAGAGGCTCATGA	0.507																																																	0													121.0	127.0	125.0					15																	40591367		1974	4141	6115	SO:0001819	synonymous_variant	5330				CCDS42020.1, CCDS61591.1, CCDS61592.1, CCDS73704.1	15q15.1	2012-01-23			ENSG00000137841	ENSG00000137841	3.1.4.11		9055	protein-coding gene	gene with protein product		604114				1644792, 9925923	Standard	XM_005254448		Approved	FLJ38135	uc001zld.3	Q00722	OTTHUMG00000172412	ENST00000260402.3:c.645C>G	15.37:g.40591367G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J2|B9EGH5	Silent	SNP	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLC-beta_C,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.L215	ENST00000260402.3	37	c.645	CCDS42020.1	15																																																																																			PLCB2	-	pirsf_PLC-beta		0.507	PLCB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCB2	HGNC	protein_coding	OTTHUMT00000418430.1	G			40591367	-1	no_errors	ENST00000260402	ensembl	human	known	70_37	silent	SNP	0.993	C
PLCD1	5333	genome.wustl.edu	37	3	38049823	38049823	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38049823C>T	ENST00000334661.4	-	13	2160	c.1938G>A	c.(1936-1938)aaG>aaA	p.K646K	PLCD1_ENST00000463876.1_Silent_p.K667K|PLCD1_ENST00000479619.1_5'Flank	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1	646	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AATTCTTATTCTTGTTGACTT	0.552																																																	0													74.0	78.0	77.0					3																	38049823		2203	4300	6503	SO:0001819	synonymous_variant	5333				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.1938G>A	3.37:g.38049823C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR14|Q86VN8	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.K667	ENST00000334661.4	37	c.2001	CCDS2671.1	3																																																																																			PLCD1	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.552	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	C			38049823	-1	no_errors	ENST00000463876	ensembl	human	known	70_37	silent	SNP	1.000	T
PLCE1	51196	genome.wustl.edu	37	10	96066416	96066416	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:96066416G>C	ENST00000371380.3	+	25	6090	c.5855G>C	c.(5854-5856)aGa>aCa	p.R1952T	PLCE1_ENST00000371385.3_Missense_Mutation_p.R1644T|PLCE1_ENST00000371375.1_Missense_Mutation_p.R1644T|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1952T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1952	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACTGCTCAGAGAATCATTCCA	0.378																																																	0													73.0	65.0	67.0					10																	96066416		1861	4123	5984	SO:0001583	missense	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5855G>C	10.37:g.96066416G>C	ENSP00000360431:p.Arg1952Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.R1952T	ENST00000371380.3	37	c.5855	CCDS41552.1	10	.	.	.	.	.	.	.	.	.	.	G	28.5	4.928300	0.92389	.	.	ENSG00000138193	ENST00000260766;ENST00000371380;ENST00000371385;ENST00000371375	T;T;T;T	0.12984	2.63;2.63;2.63;2.63	5.43	5.43	0.79202	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.47078	0.1426	M	0.89478	3.035	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.54302	-0.8314	10	0.87932	D	0	.	19.2269	0.93821	0.0:0.0:1.0:0.0	.	1936;1644;1952	B7ZM61;Q9P212-2;Q9P212	.;.;PLCE1_HUMAN	T	1952;1952;1644;1644	ENSP00000260766:R1952T;ENSP00000360431:R1952T;ENSP00000360438:R1644T;ENSP00000360426:R1644T	ENSP00000260766:R1952T	R	+	2	0	PLCE1	96056406	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.701000	0.98710	2.721000	0.93114	0.655000	0.94253	AGA	PLCE1	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep		0.378	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96066416	+1	no_errors	ENST00000371380	ensembl	human	known	70_37	missense	SNP	1.000	C
PLCG1	5335	genome.wustl.edu	37	20	39794982	39794982	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:39794982G>C	ENST00000373271.1	+	17	2353	c.1948G>C	c.(1948-1950)Gag>Cag	p.E650Q	PLCG1_ENST00000244007.3_Missense_Mutation_p.E650Q|PLCG1_ENST00000373272.2_Missense_Mutation_p.E650Q	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	650	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TAATGAGTTTGAGATGCGACT	0.587																																																	0													88.0	82.0	84.0					20																	39794982		2203	4300	6503	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.1948G>C	20.37:g.39794982G>C	ENSP00000362368:p.Glu650Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.E650Q	ENST00000373271.1	37	c.1948	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	G	15.87	2.959276	0.53400	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	T;T;T	0.25749	1.78;1.78;1.78	5.6	5.6	0.85130	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);Pleckstrin homology domain (1);SH2 motif (2);	0.000000	0.85682	D	0.000000	T	0.35422	0.0931	M	0.78916	2.43	0.80722	D	1	P;P;P	0.43973	0.823;0.729;0.729	B;B;B	0.39094	0.29;0.151;0.151	T	0.29150	-1.0021	10	0.44086	T	0.13	.	19.6109	0.95606	0.0:0.0:1.0:0.0	.	650;650;650	P19174-2;P19174;A2A284	.;PLCG1_HUMAN;.	Q	650	ENSP00000244007:E650Q;ENSP00000362368:E650Q;ENSP00000362369:E650Q	ENSP00000244007:E650Q	E	+	1	0	PLCG1	39228396	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	9.869000	0.99810	2.653000	0.90120	0.491000	0.48974	GAG	PLCG1	-	superfamily_PLC-like_Pdiesterase_TIM-brl,smart_Pleckstrin_homology,pirsf_PLC-gamma,pfscan_SH2		0.587	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	G	NM_182811		39794982	+1	no_errors	ENST00000244007	ensembl	human	known	70_37	missense	SNP	1.000	C
PLCH1	23007	genome.wustl.edu	37	3	155198792	155198792	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155198792C>T	ENST00000340059.7	-	23	5046	c.5047G>A	c.(5047-5049)Gat>Aat	p.D1683N	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000460012.1_Missense_Mutation_p.D1645N|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1645N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1645N|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1683					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TCTGGTTTATCATCACTGCTT	0.403																																																	0													41.0	48.0	45.0					3																	155198792		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.5047G>A	3.37:g.155198792C>T	ENSP00000345988:p.Asp1683Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D1683N	ENST00000340059.7	37	c.5047	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	29.2	4.987225	0.93106	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.24908	1.83;1.83;1.83;1.83	5.38	5.38	0.77491	.	2.508580	0.01518	N	0.018247	T	0.54581	0.1867	M	0.64997	1.995	0.47123	D	0.999328	D;D	0.63046	0.992;0.961	P;P	0.59357	0.856;0.494	T	0.29058	-1.0024	10	0.87932	D	0	.	18.7287	0.91726	0.0:1.0:0.0:0.0	.	1645;1683	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	N	1645;1683;1645;1645	ENSP00000417502:D1645N;ENSP00000345988:D1683N;ENSP00000335469:D1645N;ENSP00000412977:D1645N	ENSP00000335469:D1645N	D	-	1	0	PLCH1	156681486	0.944000	0.32072	0.936000	0.37596	0.995000	0.86356	3.406000	0.52637	2.504000	0.84457	0.655000	0.94253	GAT	PLCH1	-	NULL		0.403	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155198792	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.997	T
PLCH1	23007	genome.wustl.edu	37	3	155199221	155199221	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155199221C>T	ENST00000340059.7	-	23	4617	c.4618G>A	c.(4618-4620)Gat>Aat	p.D1540N	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000460012.1_Missense_Mutation_p.D1502N|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1502N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1502N|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1540					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCAGGGCATCTATAGGCTCT	0.478																																																	0													67.0	69.0	68.0					3																	155199221		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4618G>A	3.37:g.155199221C>T	ENSP00000345988:p.Asp1540Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D1540N	ENST00000340059.7	37	c.4618	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	17.51	3.408604	0.62399	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.49139	0.79;0.8;0.79;0.79	5.26	5.26	0.73747	.	0.329757	0.32655	N	0.005819	T	0.70395	0.3219	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.996	T	0.73662	-0.3912	10	0.66056	D	0.02	.	18.8629	0.92280	0.0:1.0:0.0:0.0	.	1502;1540	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	N	1502;1540;1502;1502	ENSP00000417502:D1502N;ENSP00000345988:D1540N;ENSP00000335469:D1502N;ENSP00000412977:D1502N	ENSP00000335469:D1502N	D	-	1	0	PLCH1	156681915	1.000000	0.71417	0.573000	0.28510	0.063000	0.16089	7.330000	0.79181	2.428000	0.82296	0.650000	0.86243	GAT	PLCH1	-	NULL		0.478	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155199221	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	1.000	T
PLCH1	23007	genome.wustl.edu	37	3	155199584	155199584	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155199584C>T	ENST00000340059.7	-	23	4254	c.4255G>A	c.(4255-4257)Gaa>Aaa	p.E1419K	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000460012.1_Missense_Mutation_p.E1381K|PLCH1_ENST00000334686.6_Missense_Mutation_p.E1381K|PLCH1_ENST00000414191.1_Missense_Mutation_p.E1381K|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1419					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TTGAATATTTCAGGGACAGAA	0.398																																																	0													92.0	93.0	93.0					3																	155199584		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4255G>A	3.37:g.155199584C>T	ENSP00000345988:p.Glu1419Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.E1419K	ENST00000340059.7	37	c.4255	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	12.26	1.883151	0.33255	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.78003	-1.14;-1.14;-1.14;-1.14	4.72	2.89	0.33648	.	1.191640	0.05736	N	0.600562	T	0.68997	0.3062	L	0.29908	0.895	0.09310	N	1	P;P	0.37276	0.589;0.454	B;B	0.36608	0.229;0.115	T	0.59408	-0.7460	10	0.51188	T	0.08	.	9.1625	0.37032	0.0:0.8236:0.0:0.1764	.	1381;1419	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	K	1381;1419;1381;1381	ENSP00000417502:E1381K;ENSP00000345988:E1419K;ENSP00000335469:E1381K;ENSP00000412977:E1381K	ENSP00000335469:E1381K	E	-	1	0	PLCH1	156682278	0.001000	0.12720	0.001000	0.08648	0.820000	0.46376	0.921000	0.28718	0.970000	0.38263	0.585000	0.79938	GAA	PLCH1	-	NULL		0.398	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155199584	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.002	T
PLCH1	23007	genome.wustl.edu	37	3	155199800	155199800	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155199800C>T	ENST00000340059.7	-	23	4038	c.4039G>A	c.(4039-4041)Gat>Aat	p.D1347N	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000460012.1_Missense_Mutation_p.D1309N|PLCH1_ENST00000334686.6_Missense_Mutation_p.D1309N|PLCH1_ENST00000414191.1_Missense_Mutation_p.D1309N|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1347					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGAGTGGGATCAGCTATTACA	0.473																																																	0													46.0	50.0	49.0					3																	155199800		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.4039G>A	3.37:g.155199800C>T	ENSP00000345988:p.Asp1347Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.D1347N	ENST00000340059.7	37	c.4039	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617827	0.46736	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08	5.31	3.51	0.40186	.	1.332910	0.04685	N	0.413151	T	0.63850	0.2546	N	0.17082	0.46	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.003;0.001	T	0.48681	-0.9014	10	0.16420	T	0.52	.	8.6249	0.33883	0.0:0.7703:0.0:0.2297	.	1309;1347	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	N	1309;1347;1309;1309	ENSP00000417502:D1309N;ENSP00000345988:D1347N;ENSP00000335469:D1309N;ENSP00000412977:D1309N	ENSP00000335469:D1309N	D	-	1	0	PLCH1	156682494	0.002000	0.14202	0.012000	0.15200	0.593000	0.36681	1.583000	0.36579	1.236000	0.43740	-0.384000	0.06662	GAT	PLCH1	-	NULL		0.473	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155199800	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.009	T
PLCH1	23007	genome.wustl.edu	37	3	155200384	155200384	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155200384G>A	ENST00000340059.7	-	23	3454	c.3455C>T	c.(3454-3456)tCt>tTt	p.S1152F	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000460012.1_Missense_Mutation_p.S1114F|PLCH1_ENST00000334686.6_Missense_Mutation_p.S1114F|PLCH1_ENST00000414191.1_Missense_Mutation_p.S1114F|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1152					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GTCTGACAAAGAAAAGGATGT	0.443																																																	0													82.0	76.0	78.0					3																	155200384		2203	4300	6503	SO:0001583	missense	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3455C>T	3.37:g.155200384G>A	ENSP00000345988:p.Ser1152Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S1152F	ENST00000340059.7	37	c.3455	CCDS46939.1	3	.	.	.	.	.	.	.	.	.	.	G	18.75	3.690886	0.68271	.	.	ENSG00000114805	ENST00000460012;ENST00000340059;ENST00000334686;ENST00000414191	T;T;T;T	0.52057	0.68;0.68;0.68;0.68	5.57	4.68	0.58851	.	0.462157	0.25481	N	0.030364	T	0.58722	0.2142	L	0.36672	1.1	0.52099	D	0.999948	D;D	0.76494	0.999;0.997	D;D	0.69654	0.965;0.923	T	0.62704	-0.6798	10	0.87932	D	0	.	15.3276	0.74179	0.0:0.1403:0.8597:0.0	.	1114;1152	Q4KWH8-2;Q4KWH8	.;PLCH1_HUMAN	F	1114;1152;1114;1114	ENSP00000417502:S1114F;ENSP00000345988:S1152F;ENSP00000335469:S1114F;ENSP00000412977:S1114F	ENSP00000335469:S1114F	S	-	2	0	PLCH1	156683078	1.000000	0.71417	0.700000	0.30305	0.732000	0.41865	5.704000	0.68347	1.310000	0.45006	0.591000	0.81541	TCT	PLCH1	-	NULL		0.443	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	G	NM_014996		155200384	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	missense	SNP	0.992	A
PLCH1	23007	genome.wustl.edu	37	3	155200812	155200812	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:155200812C>T	ENST00000340059.7	-	23	3026	c.3027G>A	c.(3025-3027)ggG>ggA	p.G1009G	PLCH1_ENST00000447496.2_3'UTR|PLCH1-AS2_ENST00000472913.1_RNA|PLCH1_ENST00000460012.1_Silent_p.G971G|PLCH1_ENST00000334686.6_Silent_p.G971G|PLCH1_ENST00000414191.1_Silent_p.G971G|PLCH1_ENST00000494598.1_Intron	NM_001130960.1	NP_001124432.1	Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1009					inositol phosphate metabolic process (GO:0043647)|lipid catabolic process (GO:0016042)|phosphatidylinositol-mediated signaling (GO:0048015)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipase C activity (GO:0050429)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			NS(3)|breast(3)|endometrium(9)|kidney(4)|large_intestine(20)|lung(45)|ovary(2)|prostate(5)|skin(8)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	107			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			TACTTGCTTTCCCTTTTCTTC	0.393																																																	0													141.0	149.0	146.0					3																	155200812		2203	4300	6503	SO:0001819	synonymous_variant	23007			AB028992	CCDS33881.1, CCDS46939.1, CCDS46940.1	3q25	2013-01-10	2006-03-16	2006-03-16	ENSG00000114805	ENSG00000114805	3.1.4.11	"""EF-hand domain containing"""	29185	protein-coding gene	gene with protein product		612835	"""phospholipase C-like 3"""	PLCL3		15702972	Standard	NM_014996		Approved	KIAA1069, MGC117152, DKFZp434C1372, PLCeta1	uc021xge.1	Q4KWH8	OTTHUMG00000158477	ENST00000340059.7:c.3027G>A	3.37:g.155200812C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q29RV9|Q4KWH9|Q68CN0|Q86XK4|Q9H9U2|Q9UPT3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.G1009	ENST00000340059.7	37	c.3027	CCDS46939.1	3																																																																																			PLCH1	-	NULL		0.393	PLCH1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCH1	HGNC	protein_coding	OTTHUMT00000351125.1	C	NM_014996		155200812	-1	no_errors	ENST00000340059	ensembl	human	known	70_37	silent	SNP	0.000	T
PLCH2	9651	genome.wustl.edu	37	1	2435841	2435841	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:2435841C>A	ENST00000419816.2	+	22	3714	c.3440C>A	c.(3439-3441)tCc>tAc	p.S1147Y	PLCH2_ENST00000378488.3_Missense_Mutation_p.S1111Y|PLCH2_ENST00000378486.3_Missense_Mutation_p.S1147Y|PLCH2_ENST00000449969.1_3'UTR			O75038	PLCH2_HUMAN	phospholipase C, eta 2	1147					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|phosphatidylinositol metabolic process (GO:0046488)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|phosphatidylinositol phospholipase C activity (GO:0004435)|signal transducer activity (GO:0004871)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		TCCTCCTCCTCCAGCATGTCA	0.662																																																	0													39.0	42.0	41.0					1																	2435841		2186	4275	6461	SO:0001583	missense	9651			AB007919	CCDS59959.1	1p36.32	2013-01-10	2006-03-16	2006-03-16	ENSG00000149527	ENSG00000149527	3.1.4.11	"""EF-hand domain containing"""	29037	protein-coding gene	gene with protein product		612836	"""phospholipase C-like 4"""	PLCL4		15899900	Standard	XM_006711054		Approved	KIAA0450, PLCeta2, RP3-395M20.1, PLC-eta2	uc001aji.1	O75038	OTTHUMG00000000719	ENST00000419816.2:c.3440C>A	1.37:g.2435841C>A	ENSP00000389803:p.Ser1147Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCM3|B9DI80|Q3LUA8|Q86XJ2|Q86XU1|Q86YU7|Q8TEH5|Q8WUS6	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Pleckstrin_homology,smart_EF_hand_Ca-bd,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C	p.S1147Y	ENST00000419816.2	37	c.3440		1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.67|14.67	2.604059|2.604059	0.46423|0.46423	.|.	.|.	ENSG00000149527|ENSG00000149527	ENST00000419816|ENST00000378486;ENST00000378488;ENST00000278878	.|T;T	.|0.40225	.|1.26;1.04	4.62|4.62	3.69|3.69	0.42338|0.42338	.|.	.|683.188000	.|0.00508	.|U	.|0.000170	T|T	0.61324|0.61324	0.2338|0.2338	L|L	0.36672|0.36672	1.1|1.1	0.80722|0.80722	D|D	1|1	.|D;D	.|0.76494	.|0.999;0.994	.|D;P	.|0.83275	.|0.996;0.87	T|T	0.27020|0.27020	-1.0086|-1.0086	5|10	.|0.87932	.|D	.|0	.|.	13.6479|13.6479	0.62292|0.62292	0.0:0.8433:0.1567:0.0|0.0:0.8433:0.1567:0.0	.|.	.|899;1147	.|B9DI82;O75038	.|.;PLCH2_HUMAN	T|Y	442|1147;1111;899	.|ENSP00000367747:S1147Y;ENSP00000367749:S1111Y	.|ENSP00000278878:S899Y	P|S	+|+	1|2	0|0	PLCH2|PLCH2	2425701|2425701	1.000000|1.000000	0.71417|0.71417	0.948000|0.948000	0.38648|0.38648	0.147000|0.147000	0.21601|0.21601	4.340000|4.340000	0.59328|0.59328	0.907000|0.907000	0.36646|0.36646	0.462000|0.462000	0.41574|0.41574	CCA|TCC	PLCH2	-	NULL		0.662	PLCH2-009	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	PLCH2	HGNC	protein_coding	OTTHUMT00000467514.1	C	NM_014638		2435841	+1	no_errors	ENST00000378486	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEC	5339	genome.wustl.edu	37	8	144998486	144998486	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:144998486C>T	ENST00000322810.4	-	31	6191	c.6022G>A	c.(6022-6024)Gag>Aag	p.E2008K	PLEC_ENST00000436759.2_Missense_Mutation_p.E1898K|PLEC_ENST00000527096.1_Missense_Mutation_p.E1894K|PLEC_ENST00000354958.2_Missense_Mutation_p.E1849K|PLEC_ENST00000356346.3_Missense_Mutation_p.E1857K|PLEC_ENST00000354589.3_Missense_Mutation_p.E1871K|PLEC_ENST00000345136.3_Missense_Mutation_p.E1871K|PLEC_ENST00000357649.2_Missense_Mutation_p.E1875K|PLEC_ENST00000398774.2_Missense_Mutation_p.E1839K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2008	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTCGTCCTCCGCCAGCCGC	0.711																																																	0													6.0	8.0	7.0					8																	144998486		1466	3319	4785	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6022G>A	8.37:g.144998486C>T	ENSP00000323856:p.Glu2008Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.E2008K	ENST00000322810.4	37	c.6022	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	C	17.40	3.380073	0.61845	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	D;D;D;D;D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14;-3.14	4.04	4.04	0.47022	.	0.000000	0.64402	U	0.000011	D	0.93996	0.8077	L	0.44542	1.39	0.53688	D	0.999976	D;D;D;D;D;D;D;D	0.76494	0.994;0.999;0.999;0.998;0.994;0.994;0.999;0.99	D;D;D;D;D;D;D;D	0.85130	0.992;0.995;0.996;0.989;0.992;0.992;0.997;0.98	D	0.94449	0.7665	10	0.56958	D	0.05	.	15.9887	0.80183	0.0:1.0:0.0:0.0	.	1898;1857;1849;2008;1839;1871;1875;1871	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	K	1871;1875;1871;1839;2008;1849;1857;1898;1894	ENSP00000344848:E1871K;ENSP00000350277:E1875K;ENSP00000346602:E1871K;ENSP00000381756:E1839K;ENSP00000323856:E2008K;ENSP00000347044:E1849K;ENSP00000348702:E1857K;ENSP00000388180:E1898K;ENSP00000434583:E1894K	ENSP00000323856:E2008K	E	-	1	0	PLEC	145070474	0.911000	0.30947	0.214000	0.23707	0.928000	0.56348	3.770000	0.55310	2.101000	0.63845	0.549000	0.68633	GAG	PLEC	-	NULL		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	C	NM_000445		144998486	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEC	5339	genome.wustl.edu	37	8	145004320	145004320	+	Silent	SNP	G	G	C	rs201827413		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145004320G>C	ENST00000322810.4	-	21	3184	c.3015C>G	c.(3013-3015)gcC>gcG	p.A1005A	PLEC_ENST00000436759.2_Silent_p.A895A|PLEC_ENST00000527096.1_Silent_p.A891A|PLEC_ENST00000354958.2_Silent_p.A846A|PLEC_ENST00000356346.3_Silent_p.A854A|PLEC_ENST00000354589.3_Silent_p.A868A|PLEC_ENST00000345136.3_Silent_p.A868A|PLEC_ENST00000357649.2_Silent_p.A872A|PLEC_ENST00000398774.2_Silent_p.A836A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1005	Globular 1.		Missing (in MD-EBS). {ECO:0000269|PubMed:8894687}.		apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACCTGGTGACGGCCTCCTGGG	0.731																																																	0			GRCh37	CD962126	PLEC	D							6.0	8.0	7.0					8																	145004320		1953	4065	6018	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.3015C>G	8.37:g.145004320G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.A1005	ENST00000322810.4	37	c.3015	CCDS43772.1	8																																																																																			PLEC	-	smart_Spectrin/alpha-actinin		0.731	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145004320	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.006	C
PLEC	5339	genome.wustl.edu	37	8	145024566	145024566	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145024566G>A	ENST00000322810.4	-	1	478	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	103	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCATGGCGACGGGGCGGCGCA	0.711																																																	0													22.0	32.0	29.0					8																	145024566		2051	4143	6194	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.309C>T	8.37:g.145024566G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.P103	ENST00000322810.4	37	c.309	CCDS43772.1	8																																																																																			PLEC	-	NULL		0.711	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145024566	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.817	A
PLEC	5339	genome.wustl.edu	37	8	145024586	145024586	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145024586G>C	ENST00000322810.4	-	1	458	c.289C>G	c.(289-291)Ctg>Gtg	p.L97V	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	97	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGCGCTGCAGAGAGGCGGGC	0.692																																																	0													19.0	32.0	27.0					8																	145024586		2086	4163	6249	SO:0001583	missense	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.289C>G	8.37:g.145024586G>C	ENSP00000323856:p.Leu97Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.L97V	ENST00000322810.4	37	c.289	CCDS43772.1	8	.	.	.	.	.	.	.	.	.	.	g	14.50	2.552833	0.45487	.	.	ENSG00000178209	ENST00000322810	T	0.79845	-1.31	4.9	4.02	0.46733	Plectin/S10, N-terminal (1);	0.000000	0.34200	U	0.004170	D	0.86058	0.5842	L	0.53561	1.675	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86417	0.1752	10	0.87932	D	0	.	11.3633	0.49657	0.0913:0.0:0.9087:0.0	.	97	Q15149	PLEC_HUMAN	V	97	ENSP00000323856:L97V	ENSP00000323856:L97V	L	-	1	2	PLEC	145096574	0.818000	0.29161	0.981000	0.43875	0.987000	0.75469	1.105000	0.31086	1.044000	0.40200	0.563000	0.77884	CTG	PLEC	-	pfam_S10_plectin_N		0.692	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145024586	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	missense	SNP	0.997	C
PLEC	5339	genome.wustl.edu	37	8	145024638	145024638	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:145024638G>A	ENST00000322810.4	-	1	406	c.237C>T	c.(235-237)atC>atT	p.I79I	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	79	Globular 1.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAGGTGGGCGATGCCTTCAT	0.682																																																	0													32.0	46.0	41.0					8																	145024638		2132	4242	6374	SO:0001819	synonymous_variant	5339			U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.237C>T	8.37:g.145024638G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	pfam_Plectin_repeat,pfam_CH-domain,pfam_S10_plectin_N,superfamily_CH-domain,superfamily_Chorismate_mutase_type_II,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Plectin_repeat,pfscan_CH-domain	p.I79	ENST00000322810.4	37	c.237	CCDS43772.1	8																																																																																			PLEC	-	pfam_S10_plectin_N		0.682	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEC	HGNC	protein_coding	OTTHUMT00000383281.1	G	NM_000445		145024638	-1	no_errors	ENST00000322810	ensembl	human	known	70_37	silent	SNP	0.325	A
PLEKHA1	59338	genome.wustl.edu	37	10	124177418	124177418	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:124177418G>A	ENST00000368990.3	+	8	746	c.615G>A	c.(613-615)atG>atA	p.M205I	PLEKHA1_ENST00000433307.1_Missense_Mutation_p.M205I|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.M205I|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.M205I|MIR3941_ENST00000582572.1_RNA|PLEKHA1_ENST00000368988.1_Missense_Mutation_p.M205I	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	205	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTGGTAGATGAAAAACTGGA	0.343																																																	0													83.0	79.0	80.0					10																	124177418		2203	4300	6503	SO:0001583	missense	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.615G>A	10.37:g.124177418G>A	ENSP00000357986:p.Met205Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ55|D3DRE2|Q9BVK0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.M205I	ENST00000368990.3	37	c.615	CCDS7629.1	10	.	.	.	.	.	.	.	.	.	.	G	15.35	2.808948	0.50421	.	.	ENSG00000107679	ENST00000368990;ENST00000368989;ENST00000409427;ENST00000368988;ENST00000538022;ENST00000433307	T;T;T;T;T	0.11712	2.75;2.75;2.75;2.75;2.75	5.77	5.77	0.91146	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.15825	0.0381	N	0.11560	0.145	0.80722	D	1	P;P	0.50443	0.935;0.895	D;P	0.66084	0.941;0.638	T	0.29518	-1.0009	10	0.10377	T	0.69	-25.526	20.0007	0.97408	0.0:0.0:1.0:0.0	.	205;205	B3KQ55;Q9HB21	.;PKHA1_HUMAN	I	205	ENSP00000357986:M205I;ENSP00000357985:M205I;ENSP00000357984:M205I;ENSP00000438608:M205I;ENSP00000394416:M205I	ENSP00000357984:M205I	M	+	3	0	PLEKHA1	124167408	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.305000	0.96197	2.726000	0.93360	0.650000	0.86243	ATG	PLEKHA1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.343	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	G	NM_001001974		124177418	+1	no_errors	ENST00000368990	ensembl	human	known	70_37	missense	SNP	1.000	A
PLEKHA1	59338	genome.wustl.edu	37	10	124177430	124177430	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:124177430G>A	ENST00000368990.3	+	8	758	c.627G>A	c.(625-627)aaG>aaA	p.K209K	PLEKHA1_ENST00000433307.1_Silent_p.K209K|PLEKHA1_ENST00000538022.1_Silent_p.K209K|PLEKHA1_ENST00000368989.2_Silent_p.K209K|MIR3941_ENST00000582572.1_RNA|PLEKHA1_ENST00000368988.1_Silent_p.K209K	NM_001001974.2	NP_001001974.1	Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	209	PH 2. {ECO:0000255|PROSITE- ProRule:PRU00145}.				androgen metabolic process (GO:0008209)|B cell receptor signaling pathway (GO:0050853)|cellular response to hydrogen peroxide (GO:0070301)|establishment of protein localization (GO:0045184)|estrogen metabolic process (GO:0008210)|face morphogenesis (GO:0060325)|Leydig cell differentiation (GO:0033327)|luteinization (GO:0001553)|multicellular organism growth (GO:0035264)|negative regulation of protein kinase B signaling (GO:0051898)|palate development (GO:0060021)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic development (GO:0009791)|ruffle organization (GO:0031529)|skeletal system morphogenesis (GO:0048705)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				AAAACTGGAAGAGAAGATATT	0.333																																																	0													90.0	85.0	87.0					10																	124177430		2203	4300	6503	SO:0001819	synonymous_variant	59338			AF286160	CCDS7629.1, CCDS55730.1	10q26.3	2013-01-10	2002-01-14		ENSG00000107679	ENSG00000107679		"""Pleckstrin homology (PH) domain containing"""	14335	protein-coding gene	gene with protein product	"""tandem PH domain containing protein-1"""	607772	"""pleckstrin homology domain-containing, family A (phosphoinositide binding specific) member 1"""			11001876, 15485858	Standard	NM_001001974		Approved	TAPP1	uc001lge.2	Q9HB21	OTTHUMG00000019184	ENST00000368990.3:c.627G>A	10.37:g.124177430G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ55|D3DRE2|Q9BVK0	Silent	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.K209	ENST00000368990.3	37	c.627	CCDS7629.1	10																																																																																			PLEKHA1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.333	PLEKHA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHA1	HGNC	protein_coding	OTTHUMT00000050783.1	G	NM_001001974		124177430	+1	no_errors	ENST00000368990	ensembl	human	known	70_37	silent	SNP	1.000	A
PLEKHH3	79990	genome.wustl.edu	37	17	40820118	40820118	+	3'UTR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40820118G>C	ENST00000591022.1	-	0	2796				PLEKHH3_ENST00000412503.1_3'UTR|PLEKHH3_ENST00000293349.6_3'UTR|PLEKHH3_ENST00000456950.2_5'UTR	NM_024927.4	NP_079203	Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3						signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|extracellular space (GO:0005615)				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		CTGCAGGCAGGAGGGAAGTCG	0.652																																																	0													9.0	10.0	10.0					17																	40820118		2188	4276	6464	SO:0001624	3_prime_UTR_variant	79990			BC052978	CCDS11434.1	17q21.2	2013-01-11				ENSG00000068137		"""Pleckstrin homology (PH) domain containing"""	26105	protein-coding gene	gene with protein product						12477932	Standard	NM_024927		Approved	FLJ21019	uc002iau.3	Q7Z736		ENST00000591022.1:c.*27C>G	17.37:g.40820118G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JQ76|Q59H20|Q96B28|Q9H7D6|Q9NT18	RNA	SNP	-	NULL	ENST00000591022.1	37	NULL	CCDS11434.1	17																																																																																			PLEKHH3	-	-		0.652	PLEKHH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLEKHH3	HGNC	protein_coding	OTTHUMT00000452332.1	G	NM_024927		40820118	-1	no_errors	ENST00000456950	ensembl	human	known	70_37	rna	SNP	0.118	C
PLIN4	729359	genome.wustl.edu	37	19	4516671	4516671	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4516671C>G	ENST00000301286.3	-	2	170	c.171G>C	c.(169-171)caG>caC	p.Q57H		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	57						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						ATGGGGCCGTCTGCTCTGGGT	0.637																																																	0													28.0	34.0	32.0					19																	4516671		2018	4162	6180	SO:0001583	missense	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.171G>C	19.37:g.4516671C>G	ENSP00000301286:p.Gln57His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.Q57H	ENST00000301286.3	37	c.171	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	C	8.930	0.963237	0.18583	.	.	ENSG00000167676	ENST00000301286	T	0.03580	3.88	2.66	2.66	0.31614	.	.	.	.	.	T	0.03053	0.0090	N	0.14661	0.345	0.09310	N	1	P	0.50943	0.94	B	0.43783	0.431	T	0.48885	-0.8995	9	0.48119	T	0.1	.	9.0324	0.36267	0.0:1.0:0.0:0.0	.	57	Q96Q06	PLIN4_HUMAN	H	57	ENSP00000301286:Q57H	ENSP00000301286:Q57H	Q	-	3	2	PLIN4	4467671	0.006000	0.16342	0.012000	0.15200	0.015000	0.08874	1.923000	0.40055	1.834000	0.53371	0.485000	0.47835	CAG	PLIN4	-	NULL		0.637	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4516671	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	missense	SNP	0.012	G
PLXNA3	55558	genome.wustl.edu	37	X	153696205	153696205	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153696205G>A	ENST00000369682.3	+	21	3856	c.3681G>A	c.(3679-3681)ggG>ggA	p.G1227G		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1227					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCGGCGGGGGGTGGGCTCC	0.682																																																	0													20.0	24.0	22.0					X																	153696205		2183	4253	6436	SO:0001819	synonymous_variant	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.3681G>A	X.37:g.153696205G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HY36	Silent	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.G1227	ENST00000369682.3	37	c.3681	CCDS14752.1	X																																																																																			PLXNA3	-	NULL		0.682	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	G	NM_017514		153696205	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	silent	SNP	0.340	A
PNMA2	10687	genome.wustl.edu	37	8	26366151	26366151	+	Nonsense_Mutation	SNP	C	C	A	rs200050472		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:26366151C>A	ENST00000522362.2	-	3	1015	c.121G>T	c.(121-123)Gag>Tag	p.E41*	PNMA2_ENST00000522764.1_5'Flank	NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	41					positive regulation of apoptotic process (GO:0043065)	nucleus (GO:0005634)				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		tttaaagtctcctgaaggacc	0.498																																																	0													97.0	95.0	96.0					8																	26366151		2203	4300	6503	SO:0001587	stop_gained	10687				CCDS34868.1	8p21.1	2012-02-09	2012-02-09		ENSG00000240694	ENSG00000240694		"""Paraneoplastic Ma antigens"""	9159	protein-coding gene	gene with protein product		603970	"""paraneoplastic antigen MA2"""			10362822	Standard	NM_007257		Approved	MA2, RGAG2	uc003xez.2	Q9UL42	OTTHUMG00000163816	ENST00000522362.2:c.121G>T	8.37:g.26366151C>A	ENSP00000429344:p.Glu41*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNY9|O94959|O95145|Q49A18|Q9UL43	Nonsense_Mutation	SNP	pfam_Retrotrans_gag	p.E41*	ENST00000522362.2	37	c.121	CCDS34868.1	8	.	.	.	.	.	.	.	.	.	.	C	43	10.002772	0.99314	.	.	ENSG00000240694	ENST00000522362	.	.	.	3.77	3.77	0.43336	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-7.7162	11.3945	0.49834	0.0:1.0:0.0:0.0	.	.	.	.	X	41	.	ENSP00000429344:E41X	E	-	1	0	PNMA2	26422068	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.598000	0.36740	2.389000	0.81357	0.563000	0.77884	GAG	PNMA2	-	NULL		0.498	PNMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNMA2	HGNC	protein_coding	OTTHUMT00000375709.2	C	NM_007257		26366151	-1	no_errors	ENST00000522362	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PNN	5411	genome.wustl.edu	37	14	39651657	39651657	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:39651657C>T	ENST00000216832.4	+	0	2811				PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein						cell adhesion (GO:0007155)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TTGCTATTTTCTATTCTCCCT	0.353																																																	0																																										SO:0001624	3_prime_UTR_variant	5411			U77718	CCDS9671.1	14q21.1	2010-07-02			ENSG00000100941	ENSG00000100941			9162	protein-coding gene	gene with protein product		603154				8922384	Standard	NM_002687		Approved	memA	uc001wuw.4	Q9H307	OTTHUMG00000028821	ENST00000216832.4:c.*590C>T	14.37:g.39651657C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZX8|O60899|Q53EM7|Q6P5X4|Q7KYL1|Q99738|Q9UHZ9|Q9UQR9	RNA	SNP	-	NULL	ENST00000216832.4	37	NULL	CCDS9671.1	14																																																																																			PNN	-	-		0.353	PNN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNN	HGNC	protein_coding	OTTHUMT00000276776.2	C	NM_002687		39651657	+1	no_errors	ENST00000557680	ensembl	human	known	70_37	rna	SNP	0.001	T
POLQ	10721	genome.wustl.edu	37	3	121195434	121195434	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:121195434G>C	ENST00000264233.5	-	20	6486	c.6358C>G	c.(6358-6360)Cta>Gta	p.L2120V		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2120					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TGGCCAGCTAGTTGATAGGCC	0.398								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0													136.0	126.0	129.0					3																	121195434		2203	4300	6503	SO:0001583	missense	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.6358C>G	3.37:g.121195434G>C	ENSP00000264233:p.Leu2120Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95160|Q6VMB5	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.L2120V	ENST00000264233.5	37	c.6358	CCDS33833.1	3	.	.	.	.	.	.	.	.	.	.	G	17.98	3.521294	0.64747	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.58652	0.32	5.01	4.11	0.48088	.	0.170667	0.40302	N	0.001139	T	0.73179	0.3554	M	0.69248	2.105	0.33370	D	0.573403	D;D	0.89917	0.997;1.0	D;D	0.79108	0.991;0.992	T	0.81439	-0.0932	10	0.51188	T	0.08	.	15.1511	0.72700	0.0:0.142:0.858:0.0	.	2120;1292	O75417;O75417-2	DPOLQ_HUMAN;.	V	1743;2120;2256	ENSP00000264233:L2120V	ENSP00000264233:L2120V	L	-	1	2	POLQ	122678124	1.000000	0.71417	0.987000	0.45799	0.986000	0.74619	3.456000	0.53000	1.056000	0.40484	0.313000	0.20887	CTA	POLQ	-	NULL		0.398	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	G	NM_199420		121195434	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	missense	SNP	1.000	C
POLR1C	9533	genome.wustl.edu	37	6	43487119	43487119	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:43487119G>C	ENST00000372389.3	+	3	278	c.190G>C	c.(190-192)Gac>Cac	p.D64H	POLR1C_ENST00000372344.2_Missense_Mutation_p.D64H|YIPF3_ENST00000372422.2_5'Flank|YIPF3_ENST00000506469.1_5'Flank|POLR1C_ENST00000304004.3_Missense_Mutation_p.D64H|RP3-337H4.9_ENST00000607571.1_RNA	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	64					gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase I transcription (GO:0006363)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytosol (GO:0005829)|DNA-directed RNA polymerase I complex (GO:0005736)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			ACTGGAGTTTGACATGGTGGG	0.448																																																	0													159.0	129.0	139.0					6																	43487119		2203	4300	6503	SO:0001583	missense	9533			AF008442	CCDS4901.1	6p21.1	2013-01-21			ENSG00000171453	ENSG00000171453		"""RNA polymerase subunits"""	20194	protein-coding gene	gene with protein product		610060				11042152, 12446911	Standard	NM_203290		Approved	RPA40, RPA39, RPA5, RPAC1	uc003ovn.3	O15160	OTTHUMG00000014739	ENST00000372389.3:c.190G>C	6.37:g.43487119G>C	ENSP00000361465:p.Asp64His	Somatic		WXS	Illumina HiSeq	Phase_IV	O75395|Q5JTE3	Missense_Mutation	SNP	pfam_DNA-dir_RNA_pol_insert,pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,superfamily_DNA-dir_RNA_pol_insert,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3	p.D64H	ENST00000372389.3	37	c.190	CCDS4901.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.0|28.0	4.884093|4.884093	0.91814|0.91814	.|.	.|.	ENSG00000171453|ENSG00000171453	ENST00000428025;ENST00000372389;ENST00000372344;ENST00000304004|ENST00000423780	D;D;D;D|.	0.82803|.	-1.65;-1.65;-1.65;-1.65|.	5.07|5.07	5.07|5.07	0.68467|0.68467	DNA-directed RNA polymerase, RpoA/D/Rpb3-type (1);DNA-directed RNA polymerase, dimerisation (1);DNA-directed RNA polymerase, RBP11-like (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|.	0.82618|.	0.5076|.	M|M	0.90759|0.90759	3.145|3.145	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.997;0.998|.	D|.	0.86183|.	0.1607|.	10|.	0.72032|.	D|.	0.01|.	-24.3137|-24.3137	18.4374|18.4374	0.90652|0.90652	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	64;64|.	O15160-2;O15160|.	.;RPAC1_HUMAN|.	H|S	9;64;64;64|63	ENSP00000395401:D9H;ENSP00000361465:D64H;ENSP00000361419:D64H;ENSP00000307212:D64H|.	ENSP00000307212:D64H|.	D|X	+|+	1|2	0|2	POLR1C|POLR1C	43595097|43595097	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.921000|0.921000	0.55340|0.55340	9.311000|9.311000	0.96282|0.96282	2.335000|2.335000	0.79485|0.79485	0.557000|0.557000	0.71058|0.71058	GAC|TGA	POLR1C	-	pfam_DNA-dir_RNA_pol_dimersation,superfamily_DNA-dir_RNA_pol_RBP11-like,smart_DNA-dir_RNA_pol_RpoA/D/Rpb3		0.448	POLR1C-008	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR1C	HGNC	protein_coding	OTTHUMT00000040652.3	G	NM_004875		43487119	+1	no_errors	ENST00000372389	ensembl	human	known	70_37	missense	SNP	1.000	C
POLR2A	5430	genome.wustl.edu	37	17	7407087	7407087	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:7407087G>C	ENST00000322644.6	+	19	3616	c.3217G>C	c.(3217-3219)Gag>Cag	p.E1073Q		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1073					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|RNA-directed RNA polymerase activity (GO:0003968)|ubiquitin protein ligase binding (GO:0031625)			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGGGGAGATTGAGTCCAAGTT	0.542																																																	0													75.0	62.0	66.0					17																	7407087		2203	4300	6503	SO:0001583	missense	5430					17p13.1	2013-01-21	2002-08-29		ENSG00000181222	ENSG00000181222	2.7.7.6	"""RNA polymerase subunits"""	9187	protein-coding gene	gene with protein product	"""DNA-directed RNA polymerase II largest subunit, RNA polymerase II 220 kd subunit"", ""RNA polymerase II subunit B1"""	180660	"""polymerase (RNA) II (DNA directed) polypeptide A (220kD)"""	POLR2			Standard	NM_000937		Approved	POLRA, RPB1	uc002ghf.4	P24928	OTTHUMG00000177594	ENST00000322644.6:c.3217G>C	17.37:g.7407087G>C	ENSP00000314949:p.Glu1073Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NN93|B9EH88|Q6NX41	Missense_Mutation	SNP	pfam_RNA_pol_Rpb1_1,pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6,pfam_RNA_pol_asu,pfam_RNA_pol_Rpb1_7,pfam_RNA_pol_Rpb1_3,pfam_RNA_pol_Rpb1_4,pfam_RNA_pol_II_repeat_euk,smart_RNA_pol_N	p.E1073Q	ENST00000322644.6	37	c.3217	CCDS32548.1	17	.	.	.	.	.	.	.	.	.	.	G	29.6	5.023369	0.93462	.	.	ENSG00000181222	ENST00000535204;ENST00000322644	T	0.69175	-0.38	6.04	6.04	0.98038	RNA polymerase Rpb1, domain 6 (1);RNA polymerase Rpb1, domain 5 (1);	0.000000	0.85682	D	0.000000	D	0.83959	0.5367	M	0.90309	3.105	0.80722	D	1	P	0.42649	0.786	P	0.55222	0.771	D	0.85567	0.1231	10	0.87932	D	0	-16.0508	19.3507	0.94384	0.0:0.0:1.0:0.0	.	1073	P24928	RPB1_HUMAN	Q	1029;1073	ENSP00000314949:E1073Q	ENSP00000314949:E1073Q	E	+	1	0	SLC35G6	7347811	1.000000	0.71417	0.975000	0.42487	0.992000	0.81027	8.796000	0.91877	2.873000	0.98535	0.561000	0.74099	GAG	POLR2A	-	pfam_RNA_pol_Rpb1_5,pfam_RNA_pol_Rpb1_6		0.542	POLR2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2A	HGNC	protein_coding	OTTHUMT00000437967.1	G	NM_000937		7407087	+1	no_errors	ENST00000322644	ensembl	human	known	70_37	missense	SNP	1.000	C
POLR2B	5431	genome.wustl.edu	37	4	57891674	57891674	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:57891674C>T	ENST00000381227.1	+	24	3623	c.3210C>T	c.(3208-3210)ctC>ctT	p.L1070L	POLR2B_ENST00000314595.5_Silent_p.L1070L|POLR2B_ENST00000431623.2_Silent_p.L995L|POLR2B_ENST00000441246.2_Silent_p.L1063L			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	1070					7-methylguanosine mRNA capping (GO:0006370)|DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|positive regulation of viral transcription (GO:0050434)|RNA splicing (GO:0008380)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription-coupled nucleotide-excision repair (GO:0006283)|viral process (GO:0016032)	DNA-directed RNA polymerase II, core complex (GO:0005665)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|ribonucleoside binding (GO:0032549)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTCAGATCCTCAATAGACAGC	0.378																																																	0													101.0	95.0	97.0					4																	57891674		2203	4300	6503	SO:0001819	synonymous_variant	5431				CCDS3511.1	4q12	2013-01-21	2002-08-29		ENSG00000047315	ENSG00000047315		"""RNA polymerase subunits"""	9188	protein-coding gene	gene with protein product		180661	"""polymerase (RNA) II (DNA directed) polypeptide B (140kD)"""			1518060, 8034326	Standard	NM_000938		Approved	RPB2	uc003hcl.1	P30876	OTTHUMG00000128771	ENST00000381227.1:c.3210C>T	4.37:g.57891674C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1A8|Q8IZ61	Silent	SNP	pfam_DNA-dir_RNA_pol_su2_6,pfam_RNA_pol_bsu_protrusion,pfam_RNA_pol_Rpb2_2,pfam_RNA_pol_Rpb2_7,pfam_RNA_pol_Rpb2_4,pfam_RNA_pol_Rpb2_3,pfam_RNA_pol_Rpb2_5	p.L1070	ENST00000381227.1	37	c.3210	CCDS3511.1	4																																																																																			POLR2B	-	pfam_DNA-dir_RNA_pol_su2_6		0.378	POLR2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR2B	HGNC	protein_coding	OTTHUMT00000250692.1	C	NM_000938		57891674	+1	no_errors	ENST00000314595	ensembl	human	known	70_37	silent	SNP	0.957	T
POLR2J4	84820	genome.wustl.edu	37	7	44056119	44056119	+	RNA	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:44056119G>A	ENST00000427076.1	-	0	92				RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000326391.6_RNA	NR_003655.2				polymerase (RNA) II (DNA directed) polypeptide J4, pseudogene																		TGTTAATGGTGATCCTAGGAA	0.527																																																	0																																												84820					7p13	2008-08-21			ENSG00000214783	ENSG00000214783			28195	pseudogene	pseudogene						15586814	Standard	NR_003655		Approved	MGC13098	uc010kxw.2		OTTHUMG00000155253		7.37:g.44056119G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000427076.1	37	NULL		7																																																																																			POLR2J4	-	-		0.527	POLR2J4-002	KNOWN	basic|readthrough_transcript	processed_transcript	POLR2J4	HGNC	processed_transcript	OTTHUMT00000473169.1	G	NR_003655		44056119	-1	no_errors	ENST00000326391	ensembl	human	known	70_37	rna	SNP	1.000	A
POLR2M	81488	genome.wustl.edu	37	15	58027768	58027768	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:58027768C>T	ENST00000380563.2	+	16	3462	c.1067C>T	c.(1066-1068)tCc>tTc	p.S356F				P0CAP2	GRL1A_HUMAN	polymerase (RNA) II (DNA directed) polypeptide M	0					maintenance of ER location (GO:0051685)	DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)	DNA-directed RNA polymerase activity (GO:0003899)										AAGATGGGCTCCCTGGCTCTT	0.512																																																	0																																										SO:0001583	missense	81488			AF326773	CCDS32252.1, CCDS42045.1	15q21.3	2013-01-21	2011-11-07	2011-11-07		ENSG00000255529		"""RNA polymerase subunits"""	14862	protein-coding gene	gene with protein product		606485	"""glutamate receptor, ionotropic, N-methyl D-aspartate-like 1A"""	GRINL1A		16769904, 22850672	Standard	NM_015532		Approved	Gdown, Gdown1, GCOM1	uc002aev.1	P0CAP2	OTTHUMG00000166486	ENST00000380563.2:c.1067C>T	15.37:g.58027768C>T	ENSP00000369937:p.Ser356Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6EER8|Q6EES2|Q6EEV3|Q6EF00|Q6EF01|Q6EF02|Q6EF46|Q6EFN8|Q6EM48|Q6K046|Q6K050|Q6K051|Q6ZQZ3|Q8NC58|Q8NCF3|Q96DI5|Q96JB7|Q96NF5|Q9Y3V6	Missense_Mutation	SNP	NULL	p.S356F	ENST00000380563.2	37	c.1067		15	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533092	0.27387	.	.	ENSG00000255529	ENST00000380563	.	.	.	4.65	3.73	0.42828	.	.	.	.	.	T	0.43411	0.1246	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.34775	-0.9815	5	0.87932	D	0	.	7.9992	0.30286	0.0:0.8918:0.0:0.1082	.	.	.	.	F	356	.	ENSP00000369937:S356F	S	+	2	0	GRINL1A	55815060	0.000000	0.05858	0.259000	0.24435	0.309000	0.27889	-0.409000	0.07160	2.569000	0.86673	0.655000	0.94253	TCC	POLR2M	-	NULL		0.512	POLR2M-201	KNOWN	basic	protein_coding	POLR2M	HGNC	protein_coding		C			58027768	+1	no_errors	ENST00000380563	ensembl	human	known	70_37	missense	SNP	0.192	T
POLR3E	55718	genome.wustl.edu	37	16	22337179	22337179	+	Silent	SNP	G	G	A	rs369541599		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:22337179G>A	ENST00000299853.5	+	18	1613	c.1446G>A	c.(1444-1446)cgG>cgA	p.R482R	POLR3E_ENST00000359210.4_Silent_p.R482R|POLR3E_ENST00000418581.2_Silent_p.R446R|POLR3E_ENST00000564209.1_Silent_p.R482R	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	482					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGCAGCGGCGGAAGGAGCAGC	0.701																																																	0								G		0,4378		0,0,2189	21.0	20.0	21.0		1446	3.3	1.0	16		21	3,8587		0,3,4292	no	coding-synonymous	POLR3E	NM_018119.2		0,3,6481	AA,AG,GG		0.0349,0.0,0.0231		482/709	22337179	3,12965	2189	4295	6484	SO:0001819	synonymous_variant	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1446G>A	16.37:g.22337179G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.R482	ENST00000299853.5	37	c.1446	CCDS10605.1	16																																																																																			POLR3E	-	NULL		0.701	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22337179	+1	no_errors	ENST00000299853	ensembl	human	known	70_37	silent	SNP	0.992	A
POLR3E	55718	genome.wustl.edu	37	16	22337467	22337467	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:22337467G>A	ENST00000299853.5	+	18	1901	c.1734G>A	c.(1732-1734)ctG>ctA	p.L578L	POLR3E_ENST00000359210.4_Silent_p.L578L|POLR3E_ENST00000418581.2_Silent_p.L542L|POLR3E_ENST00000564209.1_Silent_p.L578L	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	578					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	centrosome (GO:0005813)|cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA-directed RNA polymerase activity (GO:0003899)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		TGCTCACGCTGAGCGAACTCA	0.642																																																	0													31.0	35.0	33.0					16																	22337467		2197	4300	6497	SO:0001819	synonymous_variant	55718			AY092085	CCDS10605.1, CCDS58432.1, CCDS58433.1, CCDS58434.1, CCDS73845.1	16p12	2013-01-21			ENSG00000058600	ENSG00000058600		"""RNA polymerase subunits"""	30347	protein-coding gene	gene with protein product						10819331, 10521666	Standard	NM_018119		Approved	RPC5, SIN, FLJ10509	uc002dkk.4	Q9NVU0	OTTHUMG00000094779	ENST00000299853.5:c.1734G>A	16.37:g.22337467G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL24|B4DUP6|H3BT11|Q9BWF7|Q9H8W8|Q9H907|Q9P276	Silent	SNP	pfam_RNA_pol_III_Rpc5	p.L578	ENST00000299853.5	37	c.1734	CCDS10605.1	16																																																																																			POLR3E	-	NULL		0.642	POLR3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLR3E	HGNC	protein_coding	OTTHUMT00000211590.1	G	NM_018119		22337467	+1	no_errors	ENST00000299853	ensembl	human	known	70_37	silent	SNP	1.000	A
POMZP3	22932	genome.wustl.edu	37	7	76254879	76254879	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:76254879C>T	ENST00000310842.4	-	3	871	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	UPK3B_ENST00000419923.2_Intron|AC004980.7_ENST00000418663.1_RNA|UPK3B_ENST00000443097.2_Intron|POMZP3_ENST00000275569.4_Missense_Mutation_p.E63K	NM_012230.3	NP_036362.3	Q6PJE2	POZP3_HUMAN	POM121 and ZP3 fusion	63										kidney(3)|lung(2)	5		Myeloproliferative disorder(862;0.204)				ATTTGGTCTTCTTCCTCCACT	0.468																																																	0													144.0	134.0	137.0					7																	76254879		2202	4280	6482	SO:0001583	missense	22932			U10099	CCDS5590.1, CCDS43606.1	7q11.2	2010-06-24	2010-06-24		ENSG00000146707	ENSG00000146707			9203	protein-coding gene	gene with protein product	"""POM-ZP3 fusion protein"", ""POM121/ZP3 fusion protein"""	600587	"""POM (POM121 rat homolog) and ZP3 fusion"", ""POM (POM121 homolog, rat) and ZP3 fusion"""			7789967	Standard	NM_012230		Approved	POM-ZP3, POM121	uc003uft.3	Q6PJE2	OTTHUMG00000023514	ENST00000310842.4:c.187G>A	7.37:g.76254879C>T	ENSP00000309233:p.Glu63Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	F6STJ3|Q12903|Q9BWB4	Missense_Mutation	SNP	pfam_ZP_dom	p.E63K	ENST00000310842.4	37	c.187	CCDS43606.1	7	.	.	.	.	.	.	.	.	.	.	c	15.48	2.846690	0.51164	.	.	ENSG00000146707	ENST00000275569;ENST00000310842;ENST00000454397	T;T	0.48836	1.3;0.8	0.694	0.694	0.18062	.	1.338720	0.05374	N	0.535935	T	0.57154	0.2034	M	0.77103	2.36	0.20307	N	0.999916	P	0.46578	0.88	P	0.50270	0.636	T	0.46748	-0.9169	10	0.59425	D	0.04	.	4.8171	0.13372	0.0:1.0:0.0:0.0	.	63	Q6PJE2	POZP3_HUMAN	K	63	ENSP00000309233:E63K;ENSP00000405319:E63K	ENSP00000275569:E63K	E	-	1	0	POMZP3	76092815	1.000000	0.71417	0.821000	0.32701	0.819000	0.46315	1.854000	0.39368	0.690000	0.31570	0.472000	0.43445	GAA	POMZP3	-	NULL		0.468	POMZP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POMZP3	HGNC	protein_coding	OTTHUMT00000341775.1	C	NM_012230		76254879	-1	no_errors	ENST00000310842	ensembl	human	known	70_37	missense	SNP	0.877	T
POTEC	388468	genome.wustl.edu	37	18	14511988	14511988	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:14511988G>A	ENST00000358970.5	-	11	1537	c.1538C>T	c.(1537-1539)tCt>tTt	p.S513F		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	513										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						ATGACTAAGAGAAAGCTAAGT	0.318																																																	0													33.0	27.0	28.0					18																	14511988		692	1588	2280	SO:0001583	missense	388468			BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1538C>T	18.37:g.14511988G>A	ENSP00000351856:p.Ser513Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.S513F	ENST00000358970.5	37	c.1538	CCDS45835.1	18	.	.	.	.	.	.	.	.	.	.	G	5.250	0.231559	0.09969	.	.	ENSG00000183206	ENST00000358970	T	0.35605	1.3	1.44	0.527	0.17084	.	.	.	.	.	T	0.26738	0.0654	L	0.48642	1.525	0.19945	N	0.999942	B	0.24576	0.106	B	0.15484	0.013	T	0.19031	-1.0318	9	0.41790	T	0.15	.	5.6845	0.17794	0.2015:0.0:0.7985:0.0	.	513	B2RU33	POTEC_HUMAN	F	513	ENSP00000351856:S513F	ENSP00000351856:S513F	S	-	2	0	POTEC	14501988	0.029000	0.19370	0.504000	0.27639	0.014000	0.08584	1.130000	0.31393	0.158000	0.19367	0.205000	0.17691	TCT	POTEC	-	NULL		0.318	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	POTEC	HGNC	protein_coding	OTTHUMT00000371179.1	G	XM_496269		14511988	-1	no_errors	ENST00000358970	ensembl	human	known	70_37	missense	SNP	0.856	A
PP2D1	151649	genome.wustl.edu	37	3	20027557	20027557	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:20027557G>C	ENST00000389050.4	-	3	1465	c.1208C>G	c.(1207-1209)tCa>tGa	p.S403*		NM_001252657.1	NP_001239586.1	A8MPX8	PP2D1_HUMAN	protein phosphatase 2C-like domain containing 1	403	PP2C-like.						catalytic activity (GO:0003824)										TGGTTCATTTGAACTAATGAC	0.388																																																	0																																										SO:0001587	stop_gained	151649			AK058178	CCDS58817.1	3p24.3	2011-06-24	2011-06-24	2011-06-24	ENSG00000183977	ENSG00000183977			28406	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 48"""	C3orf48		12477932	Standard	NR_027694		Approved	FLJ25449	uc021wtw.1	A8MPX8	OTTHUMG00000155393	ENST00000389050.4:c.1208C>G	3.37:g.20027557G>C	ENSP00000373702:p.Ser403*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LI7	Nonsense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.S403*	ENST00000389050.4	37	c.1208	CCDS58817.1	3	.	.	.	.	.	.	.	.	.	.	G	23.4	4.409204	0.83340	.	.	ENSG00000183977	ENST00000389050	.	.	.	5.44	5.44	0.79542	.	0.467770	0.17840	N	0.160254	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	-12.433	15.9905	0.80202	0.0:0.1346:0.8654:0.0	.	.	.	.	X	403	.	ENSP00000373702:S403X	S	-	2	0	PP2D1	20002561	0.138000	0.22547	0.011000	0.14972	0.188000	0.23474	2.742000	0.47434	2.718000	0.92993	0.461000	0.40582	TCA	PP2D1	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.388	PP2D1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PP2D1	HGNC	protein_coding	OTTHUMT00000339833.1	G	NM_144714		20027557	-1	no_errors	ENST00000389050	ensembl	human	known	70_37	nonsense	SNP	0.059	C
PPARGC1A	10891	genome.wustl.edu	37	4	23830116	23830116	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:23830116G>A	ENST00000264867.2	-	5	783	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	222					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GGTTTGGTGTGAGGAGGGTCA	0.473																																					Esophageal Squamous(29;694 744 13796 34866 44181)												0													383.0	346.0	358.0					4																	23830116		2203	4300	6503	SO:0001583	missense	10891			AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.664C>T	4.37:g.23830116G>A	ENSP00000264867:p.His222Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.H222Y	ENST00000264867.2	37	c.664	CCDS3429.1	4	.	.	.	.	.	.	.	.	.	.	G	16.88	3.243821	0.58995	.	.	ENSG00000109819	ENST00000264867	T	0.24151	1.87	6.17	6.17	0.99709	.	0.103896	0.64402	D	0.000001	T	0.25158	0.0611	L	0.27053	0.805	0.80722	D	1	P	0.50528	0.936	B	0.42462	0.388	T	0.00867	-1.1534	10	0.54805	T	0.06	-10.9944	20.8794	0.99867	0.0:0.0:1.0:0.0	.	222	Q9UBK2	PRGC1_HUMAN	Y	222	ENSP00000264867:H222Y	ENSP00000264867:H222Y	H	-	1	0	PPARGC1A	23439214	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.637000	0.91014	2.941000	0.99782	0.655000	0.94253	CAC	PPARGC1A	-	NULL		0.473	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARGC1A	HGNC	protein_coding	OTTHUMT00000214976.1	G	NM_013261		23830116	-1	no_errors	ENST00000264867	ensembl	human	known	70_37	missense	SNP	1.000	A
PPFIBP2	8495	genome.wustl.edu	37	11	7672960	7672960	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:7672960G>A	ENST00000299492.4	+	23	2709	c.2321G>A	c.(2320-2322)aGg>aAg	p.R774K	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.R616K|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.R662K|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.R631K	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	774	SAM 3. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|intracellular (GO:0005622)|presynaptic active zone (GO:0048786)	DNA binding (GO:0003677)|integrase activity (GO:0008907)			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACGCTCCTCAGGCGCCACCTG	0.562																																																	0													131.0	116.0	121.0					11																	7672960		2201	4296	6497	SO:0001583	missense	8495			AF034803	CCDS31419.1, CCDS58116.1, CCDS58117.1	11p15.4	2013-01-10			ENSG00000166387	ENSG00000166387		"""Sterile alpha motif (SAM) domain containing"""	9250	protein-coding gene	gene with protein product		603142				9624153	Standard	NM_003621		Approved	Cclp1	uc001mfj.5	Q8ND30	OTTHUMG00000165617	ENST00000299492.4:c.2321G>A	11.37:g.7672960G>A	ENSP00000299492:p.Arg774Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z433|E9PK77|O75337|Q8WW26	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,pfam_Integrase_Tn916-type_DNA-bd_N,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R774K	ENST00000299492.4	37	c.2321	CCDS31419.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.530098	0.96446	.	.	ENSG00000166387	ENST00000299492;ENST00000537211;ENST00000533792;ENST00000541115;ENST00000528883;ENST00000530181	D;D;D;D	0.90900	-2.75;-2.75;-2.75;-2.75	5.77	5.77	0.91146	Sterile alpha motif domain (1);Sterile alpha motif/pointed domain (1);Sterile alpha motif, type 2 (1);	0.000000	0.64402	D	0.000001	D	0.96688	0.8919	M	0.93375	3.41	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.998;1.0	D;D;D;D;D;D	0.91635	0.999;0.994;0.998;0.996;0.995;0.999	D	0.97160	0.9837	10	0.87932	D	0	-21.7907	17.8364	0.88699	0.0:0.0:1.0:0.0	.	662;662;697;616;631;774	E9PK77;B7Z433;F5GWB0;E9PP16;E9PMU1;Q8ND30	.;.;.;.;.;LIPB2_HUMAN	K	774;115;616;697;662;631	ENSP00000299492:R774K;ENSP00000436498:R616K;ENSP00000435469:R662K;ENSP00000437321:R631K	ENSP00000299492:R774K	R	+	2	0	PPFIBP2	7629536	1.000000	0.71417	0.999000	0.59377	0.922000	0.55478	9.813000	0.99286	2.884000	0.98904	0.655000	0.94253	AGG	PPFIBP2	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM		0.562	PPFIBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIBP2	HGNC	protein_coding	OTTHUMT00000385345.2	G	NM_003621		7672960	+1	no_errors	ENST00000299492	ensembl	human	known	70_37	missense	SNP	1.000	A
PPM1B	5495	genome.wustl.edu	37	2	44396048	44396048	+	5'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:44396048G>A	ENST00000282412.4	+	0	33				PPM1B_ENST00000345249.4_5'Flank|PPM1B_ENST00000409895.4_5'UTR|PPM1B_ENST00000378551.2_5'UTR|PPM1B_ENST00000409432.3_5'UTR|RP11-559M23.1_ENST00000609837.1_RNA|PPM1B_ENST00000378540.4_3'UTR	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						cytokine-mediated signaling pathway (GO:0019221)|N-terminal protein myristoylation (GO:0006499)|negative regulation of defense response to virus (GO:0050687)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)	cytosol (GO:0005829)|membrane (GO:0016020)	magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTCAATGGCGGAAAAGCCGCC	0.672																																																	0																																										SO:0001623	5_prime_UTR_variant	5495			AJ005801	CCDS1816.1, CCDS1817.1, CCDS1818.1, CCDS46271.1	2p22.1	2012-04-17	2010-03-05		ENSG00000138032	ENSG00000138032	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9276	protein-coding gene	gene with protein product	"""protein phosphatase 2C, beta isoform"""	603770	"""protein phosphatase 1B (formerly 2C), magnesium-dependent, beta isoform"""			9684878	Standard	NM_002706		Approved	PPC2BETAX, PP2CB, PP2CBETA	uc002rtt.3	O75688	OTTHUMG00000128757	ENST00000282412.4:c.-380G>A	2.37:g.44396048G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q461Q2|Q4J6C1|Q4J6C2|Q658R4|Q96ER6|Q9HAY8	RNA	SNP	-	NULL	ENST00000282412.4	37	NULL	CCDS1817.1	2																																																																																			PPM1B	-	-		0.672	PPM1B-001	KNOWN	basic|CCDS	protein_coding	PPM1B	HGNC	protein_coding	OTTHUMT00000250672.1	G	NM_002706		44396048	+1	no_errors	ENST00000378540	ensembl	human	known	70_37	rna	SNP	1.000	A
PPM1E	22843	genome.wustl.edu	37	17	57050206	57050206	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:57050206G>C	ENST00000308249.2	+	6	1259	c.1130G>C	c.(1129-1131)aGa>aCa	p.R377T		NM_014906.4	NP_055721.3	Q96MI6	PPM1M_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1E	100					protein dephosphorylation (GO:0006470)	nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|manganese ion binding (GO:0030145)			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Medulloblastoma(34;0.127)|all_neural(34;0.237)		BRCA - Breast invasive adenocarcinoma(1;5.76e-11)			GAAAAGCAGAGAATTGAGGCC	0.383																																																	0													205.0	195.0	198.0					17																	57050206		2203	4300	6503	SO:0001583	missense	22843			AB028995	CCDS11613.1	17q24.2	2012-04-17	2010-03-05		ENSG00000175175	ENSG00000175175		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	19322	protein-coding gene	gene with protein product	"""partner of PIX 1"", ""nuclear calmodulin-dependent protein kinase phosphatase"""		"""protein phosphatase 1E (PP2C domain containing)"""			11864573, 10470851	Standard	NR_048561		Approved	POPX1, KIAA1072, PP2CH, CaMKP-N	uc002iwx.4	Q8WY54		ENST00000308249.2:c.1130G>C	17.37:g.57050206G>C	ENSP00000312411:p.Arg377Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N8J9|Q96DB8	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.R377T	ENST00000308249.2	37	c.1130	CCDS11613.1	17	.	.	.	.	.	.	.	.	.	.	G	31	5.085491	0.94100	.	.	ENSG00000175175	ENST00000308249;ENST00000443121	T	0.61392	0.11	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.84202	0.5420	H	0.95187	3.635	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.997	D	0.88645	0.3178	10	0.87932	D	0	-0.6476	19.5757	0.95441	0.0:0.0:1.0:0.0	.	386;377	Q8WY54-3;Q8WY54-2	.;.	T	377;228	ENSP00000312411:R377T	ENSP00000312411:R377T	R	+	2	0	PPM1E	54404988	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.612000	0.88384	0.563000	0.77884	AGA	PPM1E	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.383	PPM1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1E	HGNC	protein_coding	OTTHUMT00000445458.1	G	NM_014906		57050206	+1	no_errors	ENST00000308249	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP1R12A	4659	genome.wustl.edu	37	12	80191124	80191124	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:80191124G>A	ENST00000450142.2	-	16	2409	c.2143C>T	c.(2143-2145)Cgt>Tgt	p.R715C	PPP1R12A_ENST00000546369.1_Missense_Mutation_p.R628C|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.R715C|PPP1R12A_ENST00000550107.1_Missense_Mutation_p.R659C|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.R715C	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	715	Interaction with ROCK2.				centrosome organization (GO:0051297)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of catalytic activity (GO:0043086)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein dephosphorylation (GO:0006470)|regulation of cell adhesion (GO:0030155)|regulation of myosin-light-chain-phosphatase activity (GO:0035507)|regulation of nucleocytoplasmic transport (GO:0046822)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|contractile fiber (GO:0043292)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|PTW/PP1 phosphatase complex (GO:0072357)	14-3-3 protein binding (GO:0071889)|enzyme inhibitor activity (GO:0004857)|phosphatase regulator activity (GO:0019208)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CGGGTAGAACGACTTCTTCCT	0.343																																																	0													84.0	71.0	75.0					12																	80191124		1830	4082	5912	SO:0001583	missense	4659			D87930	CCDS44947.1, CCDS44948.1, CCDS58259.1, CCDS58260.1	12q15-q21	2013-01-18	2011-10-04	2001-08-10	ENSG00000058272	ENSG00000058272		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	7618	protein-coding gene	gene with protein product	"""myosin phosphatase-targeting subunit 1"", ""myosin binding subunit"""	602021	"""protein phosphatase 1, regulatory (inhibitor) subunit 12A"""	MYPT1		9286714	Standard	NM_002480		Approved	MBS, M130	uc001syz.3	O14974	OTTHUMG00000170100	ENST00000450142.2:c.2143C>T	12.37:g.80191124G>A	ENSP00000389168:p.Arg715Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ09|F8VWB4|Q2NKL4|Q569H0|Q86WU3|Q8NFR6|Q9BYH0	Missense_Mutation	SNP	pirsf_Pase-1_reg_su_12A/B/C_euk,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R715C	ENST00000450142.2	37	c.2143	CCDS44947.1	12	.	.	.	.	.	.	.	.	.	.	G	22.0	4.227201	0.79576	.	.	ENSG00000058272	ENST00000261207;ENST00000546189;ENST00000360825;ENST00000341878;ENST00000312727;ENST00000450142;ENST00000437004;ENST00000546369;ENST00000550107;ENST00000547330;ENST00000547131	T;T;T;T;T;T;T	0.49720	1.09;1.09;1.08;1.12;1.07;1.05;0.77	5.31	4.38	0.52667	.	0.000000	0.85682	D	0.000000	T	0.64148	0.2572	M	0.78049	2.395	0.80722	D	1	D;D;D;D	0.71674	0.996;0.998;0.996;0.997	P;P;P;P	0.56916	0.736;0.809;0.736;0.649	T	0.69213	-0.5204	10	0.54805	T	0.06	.	15.9995	0.80280	0.0:0.1343:0.8657:0.0	.	656;715;659;715	F8W8Q6;O14974-2;O14974-3;O14974	.;.;.;MYPT1_HUMAN	C	715;715;715;659;656;715;715;628;659;656;295	ENSP00000261207:R715C;ENSP00000389168:R715C;ENSP00000416769:R715C;ENSP00000449514:R628C;ENSP00000446855:R659C;ENSP00000446816:R656C;ENSP00000450061:R295C	ENSP00000261207:R715C	R	-	1	0	PPP1R12A	78715255	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.357000	0.79456	2.466000	0.83321	0.591000	0.81541	CGT	PPP1R12A	-	pirsf_Pase-1_reg_su_12A/B/C_euk		0.343	PPP1R12A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R12A	HGNC	protein_coding	OTTHUMT00000407254.2	G	NM_002480		80191124	-1	no_errors	ENST00000261207	ensembl	human	known	70_37	missense	SNP	1.000	A
PPP1R13B	23368	genome.wustl.edu	37	14	104219456	104219456	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:104219456G>A	ENST00000202556.9	-	7	991	c.709C>T	c.(709-711)Cag>Tag	p.Q237*		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	237	Gln-rich.				intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of cell cycle (GO:0045786)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TGACTAAGCTGATCAACCCTT	0.413																																																	0													157.0	142.0	146.0					14																	104219456		1860	4098	5958	SO:0001587	stop_gained	23368			AB018314	CCDS41997.1	14q32.33	2013-01-10	2011-10-04		ENSG00000088808	ENSG00000088808		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14950	protein-coding gene	gene with protein product		606455	"""protein phosphatase 1, regulatory (inhibitor) subunit 13B"""			9872452	Standard	NM_015316		Approved	p53BP2-like, KIAA0771, p85, ASPP1	uc001yof.1	Q96KQ4	OTTHUMG00000171647	ENST00000202556.9:c.709C>T	14.37:g.104219456G>A	ENSP00000202556:p.Gln237*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMX5|O94870	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SH3_domain,prints_SH3_domain	p.Q237*	ENST00000202556.9	37	c.709	CCDS41997.1	14	.	.	.	.	.	.	.	.	.	.	G	39	7.592928	0.98378	.	.	ENSG00000088808	ENST00000202556;ENST00000380023	.	.	.	5.74	5.74	0.90152	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	19.9238	0.97097	0.0:0.0:1.0:0.0	.	.	.	.	X	237;104	.	ENSP00000202556:Q237X	Q	-	1	0	PPP1R13B	103289209	1.000000	0.71417	0.999000	0.59377	0.979000	0.70002	9.127000	0.94417	2.712000	0.92718	0.650000	0.86243	CAG	PPP1R13B	-	NULL		0.413	PPP1R13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R13B	HGNC	protein_coding	OTTHUMT00000414591.1	G	NM_015316		104219456	-1	no_errors	ENST00000202556	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PPP1R14B	26472	genome.wustl.edu	37	11	64012723	64012723	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64012723C>G	ENST00000309318.3	-	2	562	c.295G>C	c.(295-297)Gag>Cag	p.E99Q	PPP1R14B_ENST00000542235.1_Missense_Mutation_p.E24Q|RP11-783K16.5_ENST00000538355.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA|RP11-783K16.5_ENST00000544553.1_RNA|PPP1R14B_ENST00000392210.2_5'UTR	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	99					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						TCCAGGAGCTCATCCACGTCA	0.632																																																	0													52.0	45.0	48.0					11																	64012723		2201	4297	6498	SO:0001583	missense	26472			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.295G>C	11.37:g.64012723C>G	ENSP00000310117:p.Glu99Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504S7|Q7KZD7	Missense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.E99Q	ENST00000309318.3	37	c.295	CCDS31596.1	11	.	.	.	.	.	.	.	.	.	.	c	14.26	2.483595	0.44147	.	.	ENSG00000173457	ENST00000309318;ENST00000542235	.	.	.	3.52	2.6	0.31112	.	0.000000	0.85682	U	0.000000	T	0.77260	0.4104	M	0.83603	2.65	0.41402	D	0.987685	D	0.69078	0.997	D	0.79108	0.992	T	0.78580	-0.2149	9	0.62326	D	0.03	-25.0546	10.0232	0.42055	0.0:0.8962:0.0:0.1037	.	99	Q96C90	PP14B_HUMAN	Q	99;24	.	ENSP00000310117:E99Q	E	-	1	0	PPP1R14B	63769299	0.999000	0.42202	0.928000	0.36995	0.939000	0.58152	4.641000	0.61375	0.836000	0.34901	0.450000	0.29827	GAG	PPP1R14B	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor		0.632	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	HGNC	protein_coding	OTTHUMT00000396586.2	C	NM_138689		64012723	-1	no_errors	ENST00000309318	ensembl	human	known	70_37	missense	SNP	0.998	G
PPP1R14B	26472	genome.wustl.edu	37	11	64012732	64012732	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64012732C>T	ENST00000309318.3	-	2	553	c.286G>A	c.(286-288)Gac>Aac	p.D96N	PPP1R14B_ENST00000542235.1_Missense_Mutation_p.D21N|RP11-783K16.5_ENST00000538355.1_RNA|RP11-783K16.13_ENST00000545800.1_lincRNA|RP11-783K16.5_ENST00000544553.1_RNA|PPP1R14B_ENST00000392210.2_5'UTR	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	96					regulation of phosphorylation (GO:0042325)	cytoplasm (GO:0005737)	protein phosphatase inhibitor activity (GO:0004864)			kidney(1)|lung(1)|pancreas(1)	3						TCATCCACGTCAATCTCCAGT	0.642																																																	0													48.0	42.0	44.0					11																	64012732		2201	4297	6498	SO:0001583	missense	26472			X91195	CCDS31596.1	11q13	2012-04-17		2001-07-06	ENSG00000173457	ENSG00000173457		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9057	protein-coding gene	gene with protein product		601140		PLCB3N		8838322, 10606530	Standard	NM_138689		Approved	SOM172, PNG, PHI-1	uc001nza.3	Q96C90	OTTHUMG00000167846	ENST00000309318.3:c.286G>A	11.37:g.64012732C>T	ENSP00000310117:p.Asp96Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q504S7|Q7KZD7	Missense_Mutation	SNP	pfam_PP1_inhibitor,superfamily_PP1_inhibitor	p.D96N	ENST00000309318.3	37	c.286	CCDS31596.1	11	.	.	.	.	.	.	.	.	.	.	c	16.46	3.129655	0.56721	.	.	ENSG00000173457	ENST00000309318;ENST00000542235	.	.	.	3.52	3.52	0.40303	.	0.000000	0.85682	U	0.000000	T	0.68787	0.3039	L	0.50993	1.605	0.53005	D	0.99996	D	0.69078	0.997	D	0.80764	0.994	T	0.69818	-0.5042	9	0.44086	T	0.13	-24.6965	14.4028	0.67060	0.0:1.0:0.0:0.0	.	96	Q96C90	PP14B_HUMAN	N	96;21	.	ENSP00000310117:D96N	D	-	1	0	PPP1R14B	63769308	1.000000	0.71417	0.761000	0.31378	0.801000	0.45260	6.385000	0.73182	1.983000	0.57843	0.450000	0.29827	GAC	PPP1R14B	-	pfam_PP1_inhibitor,superfamily_PP1_inhibitor		0.642	PPP1R14B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R14B	HGNC	protein_coding	OTTHUMT00000396586.2	C	NM_138689		64012732	-1	no_errors	ENST00000309318	ensembl	human	known	70_37	missense	SNP	0.997	T
PPP1R37	284352	genome.wustl.edu	37	19	45645571	45645571	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:45645571G>A	ENST00000221462.4	+	7	1093	c.729G>A	c.(727-729)ctG>ctA	p.L243L	PPP1R37_ENST00000421905.1_Silent_p.L243L	NM_019121.1	NP_061994.1	O75864	PPR37_HUMAN	protein phosphatase 1, regulatory subunit 37	243					negative regulation of phosphatase activity (GO:0010923)		phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)										CCACGGCCCTGAAGATGAACA	0.657																																																	0																																										SO:0001819	synonymous_variant	284352			BC035704	CCDS56096.1	19q13.32	2012-04-17	2011-10-11	2011-10-11	ENSG00000104866	ENSG00000104866		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	27607	protein-coding gene	gene with protein product			"""leucine rich repeat containing 68"""	LRRC68		12477932	Standard	NM_019121		Approved		uc021uvs.1	O75864	OTTHUMG00000168143	ENST00000221462.4:c.729G>A	19.37:g.45645571G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDA4|Q8IWK3|Q8TF16	Silent	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L243	ENST00000221462.4	37	c.729	CCDS56096.1	19																																																																																			PPP1R37	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.657	PPP1R37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R37	HGNC	protein_coding	OTTHUMT00000398356.2	G	NM_173634		45645571	+1	no_errors	ENST00000221462	ensembl	human	known	70_37	silent	SNP	1.000	A
PPP1R9B	84687	genome.wustl.edu	37	17	48227731	48227731	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:48227731C>G	ENST00000316878.6	-	1	146	c.144G>C	c.(142-144)aaG>aaC	p.K48N	PPP1R9B_ENST00000501501.2_5'UTR	NM_032595.3	NP_115984.3	Q96SB3	NEB2_HUMAN	protein phosphatase 1, regulatory subunit 9B	48	Actin-binding. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular response to morphine (GO:0071315)|dendrite development (GO:0016358)|filopodium assembly (GO:0046847)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of cell proliferation (GO:0042127)|regulation of exit from mitosis (GO:0007096)|regulation of opioid receptor signaling pathway (GO:2000474)|regulation of protein phosphorylation (GO:0001932)|RNA splicing (GO:0008380)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|protein phosphatase type 1 complex (GO:0000164)|ruffle membrane (GO:0032587)|synapse (GO:0045202)	protein phosphatase 1 binding (GO:0008157)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8						AGCCATATTTCTTGTGGTGGG	0.736																																																	0													4.0	5.0	4.0					17																	48227731		659	1581	2240	SO:0001583	missense	84687			AJ401189	CCDS74102.1	17q21.33	2013-01-31	2011-10-04	2001-07-02	ENSG00000108819	ENSG00000108819		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9298	protein-coding gene	gene with protein product	"""spinophilin"", ""Neurabin-2"""	603325	"""protein phosphatase 1, regulatory subunit 9B, spinophilin"", ""protein phosphatase 1, regulatory (inhibitor) subunit 9B"""	PPP1R6, PPP1R9		9275233	Standard	NM_032595		Approved	Spn, SPINO	uc002iqh.4	Q96SB3	OTTHUMG00000162008	ENST00000316878.6:c.144G>C	17.37:g.48227731C>G	ENSP00000475417:p.Lys48Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TCR9	RNA	SNP	-	NULL	ENST00000316878.6	37	NULL		17																																																																																			PPP1R9B	-	-		0.736	PPP1R9B-201	KNOWN	basic|appris_principal	protein_coding	PPP1R9B	HGNC	protein_coding		C	NM_032595		48227731	-1	no_errors	ENST00000316878	ensembl	human	known	70_37	rna	SNP	1.000	G
PPP2R2B	5521	genome.wustl.edu	37	5	145979889	145979889	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:145979889G>C	ENST00000394413.3	-	7	1495	c.925C>G	c.(925-927)Ctc>Gtc	p.L309V	PPP2R2B_ENST00000394414.1_Missense_Mutation_p.L375V|PPP2R2B_ENST00000453001.1_Missense_Mutation_p.L309V|PPP2R2B_ENST00000336640.6_Missense_Mutation_p.L312V|CTB-99A3.1_ENST00000512730.1_RNA|PPP2R2B_ENST00000394409.3_Missense_Mutation_p.L367V|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000356826.3_Missense_Mutation_p.L309V|PPP2R2B_ENST00000394410.2_Missense_Mutation_p.L298V|PPP2R2B_ENST00000394411.4_Missense_Mutation_p.L309V|PPP2R2B_ENST00000504198.1_Missense_Mutation_p.L315V|PPP2R2B_ENST00000508545.2_Missense_Mutation_p.L298V			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	309					apoptotic process (GO:0006915)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	cytoskeleton (GO:0005856)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCATGTTGAGATCCCAGACT	0.458																																																	0													168.0	163.0	165.0					5																	145979889		2203	4300	6503	SO:0001583	missense	5521			M64930	CCDS4283.1, CCDS4284.1, CCDS43380.1, CCDS4284.2, CCDS64282.1	5q32	2013-01-10	2010-04-14		ENSG00000156475	ENSG00000156475	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""WD repeat domain containing"""	9305	protein-coding gene	gene with protein product	"""PP2A subunit B isoform beta"""	604325	"""spinocerebellar ataxia 12"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B (PR 52), beta isoform"", ""protein phosphatase 2 (formerly 2A), regulatory subunit B, beta isoform"""	SCA12		1849734, 10581021	Standard	NM_181674		Approved	PR55-BETA, PR52B	uc003log.5	Q00005	OTTHUMG00000163381	ENST00000394413.3:c.925C>G	5.37:g.145979889G>C	ENSP00000377935:p.Leu309Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEJ2|A8K102|B3KPD0|B7Z2F2|B7Z304|D3DQF7|D3DQF8|G3V149	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_PP2A_PR55,prints_PP2A_PR55	p.L375V	ENST00000394413.3	37	c.1123	CCDS4284.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.49|13.49	2.251887|2.251887	0.39797|0.39797	.|.	.|.	ENSG00000156475|ENSG00000156475	ENST00000512984|ENST00000394413;ENST00000508545;ENST00000394414;ENST00000394411;ENST00000356826;ENST00000453001;ENST00000394410;ENST00000336640;ENST00000504198;ENST00000394409	.|T;T;T;T;T;T;T;T;T;T	.|0.32988	.|1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43;1.43	5.8|5.8	5.8|5.8	0.92144|0.92144	.|WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	.|0.062852	.|0.64402	.|D	.|0.000006	T|T	0.29556|0.29556	0.0737|0.0737	L|L	0.58101|0.58101	1.795|1.795	0.80722|0.80722	D|D	1|1	.|B;B;B;B;B;B	.|0.15141	.|0.012;0.007;0.003;0.012;0.003;0.001	.|B;B;B;B;B;B	.|0.15484	.|0.009;0.013;0.008;0.013;0.005;0.005	T|T	0.07214|0.07214	-1.0784|-1.0784	5|10	.|0.13470	.|T	.|0.59	-14.6183|-14.6183	13.6955|13.6955	0.62578|0.62578	0.0794:0.0:0.9206:0.0|0.0794:0.0:0.9206:0.0	.|.	.|367;315;298;375;312;309	.|Q00005-4;Q00005-3;G3V149;Q00005-5;Q00005-2;Q00005	.|.;.;.;.;.;2ABB_HUMAN	M|V	17|309;298;375;309;309;309;298;312;315;367	.|ENSP00000377935:L309V;ENSP00000431320:L298V;ENSP00000377936:L375V;ENSP00000377933:L309V;ENSP00000349283:L309V;ENSP00000398779:L309V;ENSP00000377932:L298V;ENSP00000336591:L312V;ENSP00000421396:L315V;ENSP00000377931:L367V	.|ENSP00000336591:L312V	I|L	-|-	3|1	3|0	AC011357.1|AC011357.1	145960082|145960082	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	4.064000|4.064000	0.57506|0.57506	2.749000|2.749000	0.94314|0.94314	0.655000|0.655000	0.94253|0.94253	ATC|CTC	PPP2R2B	-	superfamily_WD40_repeat_dom,pirsf_PP2A_PR55,prints_PP2A_PR55		0.458	PPP2R2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R2B	HGNC	protein_coding	OTTHUMT00000251893.2	G	NM_181678		145979889	-1	no_errors	ENST00000394414	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP2R5B	5526	genome.wustl.edu	37	11	64695769	64695769	+	Silent	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:64695769C>A	ENST00000164133.2	+	6	1216	c.594C>A	c.(592-594)ctC>ctA	p.L198L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	198					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCCCACAGCTCCTGGAGCTAT	0.607																																																	0													51.0	45.0	47.0					11																	64695769		2201	4297	6498	SO:0001819	synonymous_variant	5526			L42374	CCDS8085.1	11q12	2010-06-18	2010-04-14		ENSG00000068971	ENSG00000068971		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9310	protein-coding gene	gene with protein product	"""PP2A, B subunit, B' beta isoform"", ""PP2A, B subunit, B56 beta isoform"", ""PP2A, B subunit, PR61 beta isoform"", ""PP2A, B subunit, R5 beta isoform"", ""serine/threonine protein phosphatase 2A, 56 kDa regulatory subunit, beta isoform"""	601644	"""protein phosphatase 2, regulatory subunit B (B56), beta isoform"", ""protein phosphatase 2, regulatory subunit B', beta isoform"""			7592815	Standard	NM_006244		Approved	FLJ35411, B56B, PR61B	uc001oby.3	Q15173	OTTHUMG00000150043	ENST00000164133.2:c.594C>A	11.37:g.64695769C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13853	Silent	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.L198	ENST00000164133.2	37	c.594	CCDS8085.1	11																																																																																			PPP2R5B	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.607	PPP2R5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5B	HGNC	protein_coding	OTTHUMT00000385465.1	C	NM_006244		64695769	+1	no_errors	ENST00000164133	ensembl	human	known	70_37	silent	SNP	0.986	A
PPP2R5C	5527	genome.wustl.edu	37	14	102372772	102372772	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:102372772G>C	ENST00000334743.5	+	10	1105	c.1057G>C	c.(1057-1059)Gaa>Caa	p.E353Q	PPP2R5C_ENST00000350249.3_Missense_Mutation_p.E353Q|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.E408Q|PPP2R5C_ENST00000422945.2_Missense_Mutation_p.E384Q|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.E353Q|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.E353Q	NM_002719.3	NP_002710.2	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	353					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell proliferation (GO:0008285)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)	chromosome, centromeric region (GO:0000775)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						CTGGAATAATGAATACATCAT	0.468																																																	0													112.0	106.0	108.0					14																	102372772		2203	4300	6503	SO:0001583	missense	5527			L42375	CCDS9964.1, CCDS9965.1, CCDS45163.1, CCDS53911.1, CCDS53912.1	14q32.31	2010-06-18	2010-04-14		ENSG00000078304	ENSG00000078304		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9311	protein-coding gene	gene with protein product		601645	"""protein phosphatase 2, regulatory subunit B (B56), gamma isoform"", ""protein phosphatase 2, regulatory subunit B', gamma isoform"""			7592815	Standard	NM_002719		Approved	B56G, PR61G	uc001ykk.3	Q13362		ENST00000334743.5:c.1057G>C	14.37:g.102372772G>C	ENSP00000333905:p.Glu353Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYJ8|B5BUA5|F5GWP3|Q14391|Q15060|Q15174|Q6ZN33	Missense_Mutation	SNP	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56	p.E384Q	ENST00000334743.5	37	c.1150	CCDS9964.1	14	.	.	.	.	.	.	.	.	.	.	G	26.4	4.735055	0.89482	.	.	ENSG00000078304	ENST00000422945;ENST00000328724;ENST00000557268;ENST00000350249;ENST00000445439;ENST00000334743;ENST00000557095	T;T;T;T;T	0.53857	0.61;0.63;0.6;0.65;0.61	4.73	4.73	0.59995	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.80053	0.4553	M	0.93898	3.47	0.80722	D	1	D;D;D;P;D	0.89917	1.0;0.998;1.0;0.91;0.999	D;D;D;P;D	0.76071	0.978;0.944;0.987;0.535;0.987	D	0.86237	0.1641	10	0.87932	D	0	-23.5776	18.076	0.89427	0.0:0.0:1.0:0.0	.	384;353;353;353;408	F5GWP3;Q13362-3;Q13362;Q13362-2;Q6ZN33	.;.;2A5G_HUMAN;.;.	Q	384;408;382;353;353;353;353	ENSP00000412324:E384Q;ENSP00000329009:E408Q;ENSP00000450931:E382Q;ENSP00000262239:E353Q;ENSP00000333905:E353Q	ENSP00000329009:E408Q	E	+	1	0	PPP2R5C	101442525	1.000000	0.71417	0.917000	0.36280	0.835000	0.47333	9.525000	0.98039	2.331000	0.79229	0.563000	0.77884	GAA	PPP2R5C	-	pfam_PP2A_B56,superfamily_ARM-type_fold,pirsf_PP2A_B56		0.468	PPP2R5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP2R5C	HGNC	protein_coding	OTTHUMT00000414373.2	G	NM_002719		102372772	+1	no_errors	ENST00000422945	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP6R1	22870	genome.wustl.edu	37	19	55743452	55743452	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:55743452G>A	ENST00000412770.2	-	18	2682	c.2116C>T	c.(2116-2118)Cag>Tag	p.Q706*	PPP6R1_ENST00000587283.1_Nonsense_Mutation_p.Q706*|TMEM86B_ENST00000327042.4_5'Flank|AC010327.1_ENST00000581390.1_RNA	NM_014931.3	NP_055746.3	Q9UPN7	PP6R1_HUMAN	protein phosphatase 6, regulatory subunit 1	706	Pro-rich.				regulation of phosphoprotein phosphatase activity (GO:0043666)	cytoplasm (GO:0005737)	protein phosphatase binding (GO:0019903)			breast(1)	1						CCTGGAGGCTGAGGGCCAGGG	0.637																																																	0													28.0	37.0	34.0					19																	55743452		2131	4243	6374	SO:0001587	stop_gained	22870			AB029038	CCDS46186.1	19q13.42	2012-04-17	2010-06-28	2010-06-28	ENSG00000105063	ENSG00000105063		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	29195	protein-coding gene	gene with protein product		610875	"""KIAA1115"", ""SAPS domain family, member 1"""	KIAA1115, SAPS1		16769727	Standard	NM_014931		Approved	SAP190	uc002qjw.4	Q9UPN7		ENST00000412770.2:c.2116C>T	19.37:g.55743452G>A	ENSP00000414202:p.Gln706*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M2H3|Q504V2|Q6NVJ6|Q9BU97	Nonsense_Mutation	SNP	pfam_SAPS,superfamily_ARM-type_fold	p.Q706*	ENST00000412770.2	37	c.2116	CCDS46186.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.274211	0.95459	.	.	ENSG00000105063	ENST00000412770	.	.	.	3.53	2.46	0.29980	.	0.916157	0.08872	N	0.881415	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07325	T	0.83	-0.3569	8.2424	0.31669	0.0:0.0:0.7628:0.2372	.	.	.	.	X	706	.	ENSP00000414202:Q706X	Q	-	1	0	PPP6R1	60435264	0.058000	0.20735	0.321000	0.25320	0.241000	0.25554	1.728000	0.38105	1.041000	0.40125	0.462000	0.41574	CAG	PPP6R1	-	NULL		0.637	PPP6R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP6R1	HGNC	protein_coding	OTTHUMT00000452663.1	G	NM_014931		55743452	-1	no_errors	ENST00000412770	ensembl	human	known	70_37	nonsense	SNP	0.196	A
PPT1	5538	genome.wustl.edu	37	1	40557775	40557775	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:40557775C>A	ENST00000433473.3	-	3	768	c.304G>T	c.(304-306)Gat>Tat	p.D102Y	PPT1_ENST00000449045.2_Intron	NM_000310.3	NP_000301.1	P50897	PPT1_HUMAN	palmitoyl-protein thioesterase 1	102					adult locomotory behavior (GO:0008344)|associative learning (GO:0008306)|brain development (GO:0007420)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cofactor metabolic process (GO:0051186)|cofactor transport (GO:0051181)|grooming behavior (GO:0007625)|lipid catabolic process (GO:0016042)|lysosomal lumen acidification (GO:0007042)|membrane raft organization (GO:0031579)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of neuron apoptotic process (GO:0043524)|nervous system development (GO:0007399)|neuron development (GO:0048666)|neurotransmitter secretion (GO:0007269)|pinocytosis (GO:0006907)|positive regulation of pinocytosis (GO:0048549)|positive regulation of receptor-mediated endocytosis (GO:0048260)|protein catabolic process (GO:0030163)|protein depalmitoylation (GO:0002084)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|regulation of phospholipase A2 activity (GO:0032429)|regulation of synapse structure and activity (GO:0050803)|sphingolipid catabolic process (GO:0030149)|visual perception (GO:0007601)	axon (GO:0030424)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)	palmitoyl-(protein) hydrolase activity (GO:0008474)|palmitoyl-CoA hydrolase activity (GO:0016290)			endometrium(5)|large_intestine(1)|lung(3)|ovary(1)|stomach(1)	11	Lung NSC(20;3.43e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1e-18)|Epithelial(16;3.6e-17)|all cancers(16;1.1e-15)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATTTAGGATCCTTAGCAAGT	0.423																																																	0													151.0	147.0	149.0					1																	40557775		2203	4300	6503	SO:0001583	missense	5538			U44772	CCDS447.1, CCDS44119.1	1p32	2014-09-17	2008-07-31		ENSG00000131238	ENSG00000131238	3.1.2.22		9325	protein-coding gene	gene with protein product	"""ceroid-lipofuscinosis, neuronal 1, infantile"""	600722		PPT		7637805, 8325646	Standard	NM_000310		Approved	CLN1, INCL	uc001cfb.2	P50897	OTTHUMG00000004495	ENST00000433473.3:c.304G>T	1.37:g.40557775C>A	ENSP00000394863:p.Asp102Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY24|Q6FGQ4	Missense_Mutation	SNP	pfam_Palm_thioest,prints_Palm_thioest	p.D102Y	ENST00000433473.3	37	c.304	CCDS447.1	1	.	.	.	.	.	.	.	.	.	.	C	17.43	3.386490	0.61956	.	.	ENSG00000131238	ENST00000433473;ENST00000372779;ENST00000526547	D;D;D	0.97731	-4.51;-4.51;-4.51	5.53	4.62	0.57501	.	0.045661	0.85682	D	0.000000	D	0.98639	0.9544	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	0.997;1.0	D;D	0.79108	0.971;0.992	D	0.99461	1.0943	10	0.21014	T	0.42	-5.0039	9.8255	0.40910	0.0:0.8419:0.0:0.1581	.	52;102	B4DWU3;P50897	.;PPT1_HUMAN	Y	102;131;52	ENSP00000394863:D102Y;ENSP00000361865:D131Y;ENSP00000436481:D52Y	ENSP00000361865:D131Y	D	-	1	0	PPT1	40330362	1.000000	0.71417	0.998000	0.56505	0.587000	0.36485	4.562000	0.60816	1.494000	0.48533	-0.145000	0.13849	GAT	PPT1	-	pfam_Palm_thioest		0.423	PPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPT1	HGNC	protein_coding	OTTHUMT00000013126.2	C	NM_000310		40557775	-1	no_errors	ENST00000433473	ensembl	human	known	70_37	missense	SNP	1.000	A
NPY4R	5540	genome.wustl.edu	37	10	47086912	47086912	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:47086912C>A	ENST00000395716.1	+	2	214	c.129C>A	c.(127-129)ttC>ttA	p.F43L	NPY4R_ENST00000374312.1_Missense_Mutation_p.F43L			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	43					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)										TGATGGTCTTCATCGTCACTT	0.522																																																	0													235.0	206.0	216.0					10																	47086912		2203	4300	6503	SO:0001583	missense	5540				CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.129C>A	10.37:g.47086912C>A	ENSP00000379066:p.Phe43Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY4_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.F43L	ENST00000395716.1	37	c.129	CCDS31193.1	10	.	.	.	.	.	.	.	.	.	.	C	1.845	-0.466363	0.04476	.	.	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.34072	1.38;1.38	4.78	-0.347	0.12617	.	0.052212	0.85682	N	0.000000	T	0.25827	0.0629	M	0.71581	2.175	0.52501	D	0.999952	B	0.09022	0.002	B	0.09377	0.004	T	0.30504	-0.9976	10	0.02654	T	1	.	5.4739	0.16686	0.0:0.5266:0.1395:0.3339	.	43	P50391	NPY4R_HUMAN	L	43	ENSP00000363431:F43L;ENSP00000379066:F43L	ENSP00000363431:F43L	F	+	3	2	PPYR1	46506918	0.990000	0.36364	0.564000	0.28396	0.443000	0.32047	0.716000	0.25836	0.036000	0.15547	0.655000	0.94253	TTC	PPYR1	-	prints_NPY4_rcpt,prints_GPCR_Rhodpsn		0.522	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPYR1	HGNC	protein_coding	OTTHUMT00000047837.1	C			47086912	+1	no_errors	ENST00000374312	ensembl	human	known	70_37	missense	SNP	0.996	A
PRAMEF11	440560	genome.wustl.edu	37	1	12885298	12885298	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12885298C>T	ENST00000535591.1	-	4	1008	c.813G>A	c.(811-813)ttG>ttA	p.L271L	RP5-845O24.8_ENST00000438401.1_lincRNA	NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	271					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGAGATGCTTCAAGTCTGATT	0.473																																																	0													57.0	35.0	42.0					1																	12885298		575	1134	1709	SO:0001819	synonymous_variant	440560			AL049680	CCDS53268.1	1p36.21	2013-01-17			ENSG00000204513	ENSG00000239810		"""-"""	14086	protein-coding gene	gene with protein product							Standard	XM_006710645		Approved		uc001auk.2	O60813	OTTHUMG00000001929	ENST00000535591.1:c.813G>A	1.37:g.12885298C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.L271	ENST00000535591.1	37	c.813	CCDS53268.1	1																																																																																			PRAMEF11	-	NULL		0.473	PRAMEF11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRAMEF11	HGNC	protein_coding		C	XM_496341		12885298	-1	no_errors	ENST00000535591	ensembl	human	known	70_37	silent	SNP	0.001	T
PRB2	653247	genome.wustl.edu	37	12	11545880	11545880	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:11545880G>A	ENST00000389362.4	-	3	1167	c.1132C>T	c.(1132-1134)Caa>Taa	p.Q378*	PRB1_ENST00000546254.1_Intron|PRB2_ENST00000545829.1_5'Flank	NM_006248.3	NP_006239.3	P02812	PRB2_HUMAN	proline-rich protein BstNI subfamily 2	378						extracellular region (GO:0005576)				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(5)|skin(4)|stomach(2)|urinary_tract(1)	37		all_cancers(2;0.00558)|Acute lymphoblastic leukemia(2;3.94e-11)|all_hematologic(2;3.6e-09)	OV - Ovarian serous cystadenocarcinoma(49;0.185)			GGGGGACCTTGAGGATTGTTG	0.642																																																	0													72.0	81.0	78.0					12																	11545880		2201	4288	6489	SO:0001587	stop_gained	653247			K03208	CCDS41757.2	12p13.2	2012-10-02			ENSG00000121335	ENSG00000121335			9338	protein-coding gene	gene with protein product		168810				8554050	Standard	NM_006248		Approved	PRPPRB1, Ps, cP7	uc010shk.1	P02812	OTTHUMG00000156975	ENST00000389362.4:c.1132C>T	12.37:g.11545880G>A	ENSP00000374013:p.Gln378*	Somatic		WXS	Illumina HiSeq	Phase_IV	O00599|P02811|P04281	Nonsense_Mutation	SNP	NULL	p.Q378*	ENST00000389362.4	37	c.1132	CCDS41757.2	12	.	.	.	.	.	.	.	.	.	.	.	13.96	2.393311	0.42410	.	.	ENSG00000121335	ENST00000389362	.	.	.	1.38	1.38	0.22167	.	.	.	.	.	.	.	.	.	.	.	0.27029	A	0.0357183	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	8.7348	0.34521	0.0:0.0:1.0:0.0	.	.	.	.	X	378	.	ENSP00000374013:Q378X	Q	-	1	0	PRB2	11437147	0.005000	0.15991	0.001000	0.08648	0.006000	0.05464	1.043000	0.30316	0.662000	0.31006	0.400000	0.26472	CAA	PRB2	-	NULL		0.642	PRB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRB2	HGNC	protein_coding	OTTHUMT00000346925.2	G	NM_006248		11545880	-1	no_errors	ENST00000389362	ensembl	human	known	70_37	nonsense	SNP	0.030	A
PRDM5	11107	genome.wustl.edu	37	4	121742343	121742343	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:121742343G>C	ENST00000264808.3	-	4	698	c.458C>G	c.(457-459)tCa>tGa	p.S153*	PRDM5_ENST00000428209.2_Nonsense_Mutation_p.S153*|PRDM5_ENST00000515109.1_Nonsense_Mutation_p.S153*	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	153					histone deacetylation (GO:0016575)|histone H3-K9 methylation (GO:0051567)|mitotic cell cycle (GO:0000278)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|repressing transcription factor binding (GO:0070491)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCCGCTGTTGATTGTCTTCT	0.393																																																	0													230.0	224.0	226.0					4																	121742343		2203	4300	6503	SO:0001587	stop_gained	11107			AF272897	CCDS3716.1, CCDS75187.1, CCDS75188.1	4q25-q26	2013-01-08			ENSG00000138738	ENSG00000138738		"""Zinc fingers, C2H2-type"""	9349	protein-coding gene	gene with protein product		614161					Standard	XM_005262706		Approved	PFM2	uc003idn.3	Q9NQX1	OTTHUMG00000132970	ENST00000264808.3:c.458C>G	4.37:g.121742343G>C	ENSP00000264808:p.Ser153*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAI9|Q0VAJ0|Q6NXQ7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Znf_C2H2_jaz,smart_SET_dom,smart_Znf_C2H2-like,pirsf_Znf_PRDM5,pfscan_SET_dom,pfscan_Znf_C2H2	p.S153*	ENST00000264808.3	37	c.458	CCDS3716.1	4	.	.	.	.	.	.	.	.	.	.	G	36	5.755250	0.96898	.	.	ENSG00000138738	ENST00000264808;ENST00000515109;ENST00000428209	.	.	.	5.42	1.7	0.24286	.	0.964812	0.08616	N	0.919281	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.7115	5.1029	0.14768	0.2213:0.0:0.4812:0.2976	.	.	.	.	X	153	.	ENSP00000264808:S153X	S	-	2	0	PRDM5	121961793	0.036000	0.19791	0.000000	0.03702	0.000000	0.00434	0.882000	0.28186	0.059000	0.16252	-0.905000	0.02835	TCA	PRDM5	-	pirsf_Znf_PRDM5		0.393	PRDM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRDM5	HGNC	protein_coding	OTTHUMT00000256528.2	G			121742343	-1	no_errors	ENST00000264808	ensembl	human	known	70_37	nonsense	SNP	0.000	C
PRIM2	5558	genome.wustl.edu	37	6	57398204	57398204	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:57398204C>T	ENST00000607273.1	+	10	994	c.907C>T	c.(907-909)Cat>Tat	p.H303Y	PRIM2_ENST00000389488.2_3'UTR	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)	303					DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)	nucleoplasm (GO:0005654)|primosome complex (GO:1990077)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA primase activity (GO:0003896)|metal ion binding (GO:0046872)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CCATCTTTGTCATGGAGGCCG	0.388																																																	0													272.0	248.0	256.0					6																	57398204		1954	4155	6109	SO:0001583	missense	5558				CCDS75476.1, CCDS75477.1	6p12-p11.1	2013-01-31	2007-06-19	2007-06-19	ENSG00000146143	ENSG00000146143			9370	protein-coding gene	gene with protein product		176636	"""primase, polypeptide 2A (58kD)"", ""primase, polypeptide 2A, 58kDa"""	PRIM2A		8530050, 20675616	Standard	NM_001282487		Approved		uc003pdx.3	P49643	OTTHUMG00000016190	ENST00000607273.1:c.907C>T	6.37:g.57398204C>T	ENSP00000475738:p.His303Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FJ8|Q6P1Q7|Q8WVL2|Q9H413	RNA	SNP	-	NULL	ENST00000607273.1	37	NULL		6																																																																																			PRIM2	-	-		0.388	PRIM2-201	KNOWN	basic|appris_principal	protein_coding	PRIM2	HGNC	protein_coding		C	NM_000947		57398204	+1	no_errors	ENST00000389488	ensembl	human	known	70_37	rna	SNP	1.000	T
PRKCDBP	112464	genome.wustl.edu	37	11	6341334	6341334	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:6341334G>C	ENST00000303927.3	-	1	543	c.373C>G	c.(373-375)Ctg>Gtg	p.L125V	PRKCDBP_ENST00000530979.1_Missense_Mutation_p.L125V	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	125					cortical actin cytoskeleton organization (GO:0030866)|negative regulation of fermentation (GO:1901003)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	caveola (GO:0005901)|protein complex (GO:0043234)				large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTGAAGAGCAGAACGTGGAGC	0.701																																																	0													11.0	11.0	11.0					11																	6341334		2177	4257	6434	SO:0001583	missense	112464			AF339881	CCDS7762.1	11p15.4	2011-04-20			ENSG00000170955	ENSG00000170955			9400	protein-coding gene	gene with protein product	"""sdr-related gene product that binds to c-kinase"""					9054438	Standard	NM_145040		Approved	SRBC, HSRBC, MGC20400, cavin-3, CAVIN3	uc001mcu.1	Q969G5	OTTHUMG00000133378	ENST00000303927.3:c.373C>G	11.37:g.6341334G>C	ENSP00000307292:p.Leu125Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.L125V	ENST00000303927.3	37	c.373	CCDS7762.1	11	.	.	.	.	.	.	.	.	.	.	G	11.03	1.517666	0.27123	.	.	ENSG00000170955	ENST00000303927;ENST00000530979	T;T	0.61274	0.12;0.12	5.53	2.6	0.31112	.	0.382247	0.23612	N	0.046337	T	0.44307	0.1287	L	0.53249	1.67	0.37708	D	0.924474	B	0.10296	0.003	B	0.09377	0.004	T	0.28744	-1.0034	10	0.16896	T	0.51	-10.3629	5.0048	0.14282	0.1884:0.2044:0.6071:0.0	.	125	Q969G5	PRDBP_HUMAN	V	125	ENSP00000307292:L125V;ENSP00000432047:L125V	ENSP00000307292:L125V	L	-	1	2	PRKCDBP	6297910	0.984000	0.35163	1.000000	0.80357	0.997000	0.91878	0.304000	0.19228	0.669000	0.31146	0.609000	0.83330	CTG	PRKCDBP	-	NULL		0.701	PRKCDBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCDBP	HGNC	protein_coding	OTTHUMT00000257228.2	G	NM_145040		6341334	-1	no_errors	ENST00000303927	ensembl	human	known	70_37	missense	SNP	0.999	C
PRKCI	5584	genome.wustl.edu	37	3	169981171	169981171	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:169981171C>G	ENST00000295797.4	+	4	623	c.318C>G	c.(316-318)ttC>ttG	p.F106L		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	106	OPR.|Regulatory domain.				actin filament organization (GO:0007015)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell-cell junction organization (GO:0045216)|cellular response to insulin stimulus (GO:0032869)|cytoskeleton organization (GO:0007010)|establishment of apical/basal cell polarity (GO:0035089)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|eye photoreceptor cell development (GO:0042462)|Golgi vesicle budding (GO:0048194)|intracellular signal transduction (GO:0035556)|membrane organization (GO:0061024)|negative regulation of apoptotic process (GO:0043066)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glial cell proliferation (GO:0060252)|positive regulation of glucose import (GO:0046326)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein phosphorylation (GO:0006468)|protein targeting to membrane (GO:0006612)|response to interleukin-1 (GO:0070555)|secretion (GO:0046903)|tight junction assembly (GO:0070830)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|Schmidt-Lanterman incisure (GO:0043220)	ATP binding (GO:0005524)|phospholipid binding (GO:0005543)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)		Tamoxifen(DB00675)	TTTCAGTGTTCCCTTGTGTAC	0.338																																																	0													184.0	166.0	172.0					3																	169981171		2203	4300	6503	SO:0001583	missense	5584				CCDS3212.2	3q26.3	2008-07-18			ENSG00000163558	ENSG00000163558	2.7.11.13		9404	protein-coding gene	gene with protein product		600539		DXS1179E		7607695, 11978974	Standard	NM_002740		Approved	PKCI	uc003fgs.2	P41743	OTTHUMG00000150214	ENST00000295797.4:c.318C>G	3.37:g.169981171C>G	ENSP00000295797:p.Phe106Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNQ4|Q8WW06	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_OPR_PB1,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_OPR_PB1,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_PKC_zeta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.F106L	ENST00000295797.4	37	c.318	CCDS3212.2	3	.	.	.	.	.	.	.	.	.	.	C	19.65	3.867671	0.72065	.	.	ENSG00000163558	ENST00000295797	T	0.24908	1.83	5.45	-3.82	0.04281	Phox/Bem1p (2);	0.000000	0.85682	D	0.000000	T	0.45034	0.1322	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.43702	-0.9375	9	.	.	.	.	14.6244	0.68611	0.0:0.3742:0.0:0.6258	.	106	P41743	KPCI_HUMAN	L	106	ENSP00000295797:F106L	.	F	+	3	2	PRKCI	171463865	0.360000	0.24964	0.897000	0.35233	0.971000	0.66376	-0.440000	0.06888	-0.751000	0.04734	-0.225000	0.12378	TTC	PRKCI	-	pfam_OPR_PB1,smart_OPR_PB1,pirsf_PKC_zeta		0.338	PRKCI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRKCI	HGNC	protein_coding	OTTHUMT00000316866.3	C	NM_002740		169981171	+1	no_errors	ENST00000295797	ensembl	human	known	70_37	missense	SNP	0.718	G
PRKD1	5587	genome.wustl.edu	37	14	30046635	30046635	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:30046635C>G	ENST00000331968.5	-	18	2777	c.2548G>C	c.(2548-2550)Gag>Cag	p.E850Q	PRKD1_ENST00000415220.2_Missense_Mutation_p.E858Q	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	850					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cellular response to oxidative stress (GO:0034599)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|Golgi organization (GO:0007030)|Golgi vesicle transport (GO:0048193)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|intracellular signal transduction (GO:0035556)|negative regulation of cell death (GO:0060548)|negative regulation of endocytosis (GO:0045806)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of endothelial cell chemotaxis (GO:2001028)|positive regulation of endothelial cell chemotaxis by VEGF-activated vascular endothelial growth factor receptor signaling pathway (GO:0038033)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of histone deacetylase activity (GO:1901727)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron projection development (GO:0010976)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein autophosphorylation (GO:0046777)|regulation of integrin-mediated signaling pathway (GO:2001044)|regulation of keratinocyte proliferation (GO:0010837)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein kinase C activity (GO:0004697)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CATTCCAGCTCTCGCAAATCT	0.453																																																	0													105.0	98.0	101.0					14																	30046635		2203	4300	6503	SO:0001583	missense	5587				CCDS9637.1	14q11	2013-01-10	2004-10-28	2004-10-30	ENSG00000184304	ENSG00000184304	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	9407	protein-coding gene	gene with protein product		605435	"""protein kinase C, mu"""	PRKCM		8119958, 10965134	Standard	NM_002742		Approved	PKCM, PKD, PKC-mu	uc001wqh.3	Q15139	OTTHUMG00000140203	ENST00000331968.5:c.2548G>C	14.37:g.30046635C>G	ENSP00000333568:p.Glu850Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL64|B2RAF6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_cat_dom,prints_DAG/PE-bd	p.E850Q	ENST00000331968.5	37	c.2548	CCDS9637.1	14	.	.	.	.	.	.	.	.	.	.	C	12.78	2.041368	0.35989	.	.	ENSG00000184304	ENST00000331968;ENST00000415220	D;D	0.82619	-1.63;-1.63	6.17	5.29	0.74685	Protein kinase-like domain (1);	0.120815	0.56097	D	0.000034	T	0.79799	0.4508	L	0.51914	1.62	0.42862	D	0.994119	B	0.28933	0.228	B	0.28553	0.091	T	0.77208	-0.2672	10	0.39692	T	0.17	-31.9515	15.8154	0.78595	0.0:0.9352:0.0:0.0648	.	850	Q15139	KPCD1_HUMAN	Q	850;858	ENSP00000333568:E850Q;ENSP00000390535:E858Q	ENSP00000333568:E850Q	E	-	1	0	PRKD1	29116386	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	3.058000	0.49939	1.633000	0.50488	-0.137000	0.14449	GAG	PRKD1	-	superfamily_Kinase-like_dom		0.453	PRKD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PRKD1	HGNC	protein_coding	OTTHUMT00000276611.2	C	NM_002742		30046635	-1	no_errors	ENST00000331968	ensembl	human	known	70_37	missense	SNP	0.996	G
PRKDC	5591	genome.wustl.edu	37	8	48740909	48740909	+	Splice_Site	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:48740909C>G	ENST00000523565.1	-	62	8453		c.e62-1		PRKDC_ENST00000338368.3_Splice_Site|PRKDC_ENST00000314191.2_Splice_Site			P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide						B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	TTGGGTCCCTCTGTAAAAAAT	0.323								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													39.0	39.0	39.0					8																	48740909		1808	4063	5871	SO:0001630	splice_region_variant	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000523565.1:c.5056-1G>C	8.37:g.48740909C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Splice_Site	SNP	-	e63-1	ENST00000523565.1	37	c.8395-1		8	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368540	0.82463	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9997	0.97405	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	PRKDC	48903462	1.000000	0.71417	0.997000	0.53966	0.871000	0.50021	7.197000	0.77814	2.813000	0.96785	0.655000	0.94253	.	PRKDC	-	-		0.323	PRKDC-002	KNOWN	basic	processed_transcript	PRKDC	HGNC	protein_coding	OTTHUMT00000377896.1	C	NM_001081640	Intron	48740909	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	splice_site	SNP	1.000	G
PRLR	5618	genome.wustl.edu	37	5	35065310	35065310	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:35065310C>G	ENST00000382002.5	-	10	2176	c.1750G>C	c.(1750-1752)Gaa>Caa	p.E584Q	PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_3'UTR|PRLR_ENST00000511486.1_Missense_Mutation_p.E483Q|PRLR_ENST00000342362.5_Missense_Mutation_p.E483Q|PRLR_ENST00000231423.3_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	584					activation of JAK2 kinase activity (GO:0042977)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cell surface receptor signaling pathway (GO:0007166)|embryo implantation (GO:0007566)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lactation (GO:0007595)|negative regulation of apoptotic process (GO:0043066)|prolactin signaling pathway (GO:0038161)|steroid biosynthetic process (GO:0006694)|T cell activation (GO:0042110)	cell surface (GO:0009986)|endosome lumen (GO:0031904)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|ornithine decarboxylase activator activity (GO:0042978)|peptide hormone binding (GO:0017046)|prolactin receptor activity (GO:0004925)|protein homodimerization activity (GO:0042803)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Fluoxymesterone(DB01185)|Somatropin recombinant(DB00052)	TGATTCTGTTCAAGTGATGGT	0.507																																																	0													100.0	90.0	93.0					5																	35065310		2203	4300	6503	SO:0001583	missense	5618				CCDS3909.1, CCDS56358.1, CCDS56359.1, CCDS56360.1, CCDS56361.1, CCDS56362.1	5p14-p13	2013-02-27			ENSG00000113494	ENSG00000113494			9446	protein-coding gene	gene with protein product		176761					Standard	NM_001204315		Approved		uc003jjm.3	P16471	OTTHUMG00000090789	ENST00000382002.5:c.1750G>C	5.37:g.35065310C>G	ENSP00000371432:p.Glu584Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R882|D1MDP1|Q16354|Q8TD75|Q8TD78|Q96P35|Q96P36|Q9BX87|Q9UHJ5	Missense_Mutation	SNP	pfam_Growth/epo_recpt_lig-bind,pfam_IL6_recept-bd,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.E584Q	ENST00000382002.5	37	c.1750	CCDS3909.1	5	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.446736	0.00178	.	.	ENSG00000113494	ENST00000342362;ENST00000382002;ENST00000511486	D;T;D	0.87103	-2.21;-1.28;-2.21	5.67	2.9	0.33743	.	0.900431	0.09928	N	0.737570	T	0.68274	0.2983	N	0.04260	-0.245	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.08055	0.001;0.003	T	0.53114	-0.8484	10	0.02654	T	1	-0.0201	7.9466	0.29991	0.146:0.2907:0.5633:0.0	.	584;483	P16471;P16471-2	PRLR_HUMAN;.	Q	483;584;483	ENSP00000339213:E483Q;ENSP00000371432:E584Q;ENSP00000422556:E483Q	ENSP00000339213:E483Q	E	-	1	0	PRLR	35101067	0.009000	0.17119	0.000000	0.03702	0.184000	0.23303	1.782000	0.38654	0.323000	0.23307	0.650000	0.86243	GAA	PRLR	-	NULL		0.507	PRLR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRLR	HGNC	protein_coding	OTTHUMT00000207575.2	C			35065310	-1	no_errors	ENST00000382002	ensembl	human	known	70_37	missense	SNP	0.001	G
PRNP	5621	genome.wustl.edu	37	20	4680616	4680616	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:4680616G>C	ENST00000379440.4	+	2	1037	c.750G>C	c.(748-750)ctG>ctC	p.L250L	PRNP_ENST00000430350.2_Silent_p.L250L	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	F7VJQ1	APRIO_HUMAN	prion protein	0						integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)				central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14						TCATCTTCCTGATAGTGGGAT	0.498																																																	0													45.0	43.0	44.0					20																	4680616		2203	4300	6503	SO:0001819	synonymous_variant	5621			M13899	CCDS13080.1	20p13	2014-06-05	2008-07-28		ENSG00000171867	ENSG00000171867		"""CD molecules"""	9449	protein-coding gene	gene with protein product	"""Creutzfeldt-Jakob disease"", ""Gerstmann-Strausler-Scheinker syndrome"", ""fatal familial insomnia"", ""p27-30"""	176640	"""prion protein (p27-30)"""	PRIP, GSS, CJD			Standard	NM_000311		Approved	CD230, PRP, AltPrP	uc002wkw.4	F7VJQ1	OTTHUMG00000031786	ENST00000379440.4:c.750G>C	20.37:g.4680616G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prion/Doppel_prot_b-ribbon_dom,pfam_Prion_N_dom,superfamily_Prion/Doppel_prot_b-ribbon_dom,smart_Prion,prints_Prion	p.L250	ENST00000379440.4	37	c.750	CCDS13080.1	20																																																																																			PRNP	-	pfam_Prion/Doppel_prot_b-ribbon_dom,prints_Prion		0.498	PRNP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRNP	HGNC	protein_coding	OTTHUMT00000077820.2	G	NM_000311		4680616	+1	no_errors	ENST00000379440	ensembl	human	known	70_37	silent	SNP	0.992	C
PROCR	10544	genome.wustl.edu	37	20	33764165	33764165	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:33764165C>T	ENST00000216968.4	+	3	599	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	173					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|immune response (GO:0006955)|negative regulation of coagulation (GO:0050819)	cell surface (GO:0009986)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	TGCCTACAACCGCACTCGGTA	0.562																																																	0													118.0	106.0	110.0					20																	33764165		2203	4300	6503	SO:0001583	missense	10544			L35545	CCDS13248.1	20q11.2	2010-05-04	2010-05-04		ENSG00000101000	ENSG00000101000		"""CD molecules"""	9452	protein-coding gene	gene with protein product		600646				7929370, 10518938	Standard	NM_006404		Approved	EPCR, CCD41, CD201	uc002xbt.3	Q9UNN8	OTTHUMG00000032323	ENST00000216968.4:c.517C>T	20.37:g.33764165C>T	ENSP00000216968:p.Arg173Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC04|Q14218|Q6IB56|Q96CB3|Q9ULX1	Missense_Mutation	SNP	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog	p.R173C	ENST00000216968.4	37	c.517	CCDS13248.1	20	.	.	.	.	.	.	.	.	.	.	C	19.03	3.747611	0.69533	.	.	ENSG00000101000	ENST00000374477;ENST00000216968	D	0.82893	-1.66	5.62	4.66	0.58398	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	0.616595	0.15730	N	0.247492	D	0.90103	0.6908	M	0.79123	2.44	0.41902	D	0.990425	D	0.89917	1.0	D	0.70935	0.971	D	0.89899	0.4043	10	0.66056	D	0.02	-3.2419	11.765	0.51924	0.1757:0.8243:0.0:0.0	.	173	Q9UNN8	EPCR_HUMAN	C	173	ENSP00000216968:R173C	ENSP00000216968:R173C	R	+	1	0	PROCR	33227826	0.122000	0.22280	0.663000	0.29738	0.841000	0.47740	1.544000	0.36158	1.332000	0.45431	0.563000	0.77884	CGC	PROCR	-	pfam_MHC_I_a_a1/a2,superfamily_MHC_I/II-like_Ag-recog		0.562	PROCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROCR	HGNC	protein_coding	OTTHUMT00000078843.3	C			33764165	+1	no_errors	ENST00000216968	ensembl	human	known	70_37	missense	SNP	0.699	T
PROM2	150696	genome.wustl.edu	37	2	95943221	95943221	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:95943221C>T	ENST00000317620.9	+	7	1015	c.882C>T	c.(880-882)ctC>ctT	p.L294L	PROM2_ENST00000542147.1_Silent_p.L294L|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000317668.4_Silent_p.L294L|PROM2_ENST00000403131.2_Silent_p.L294L	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	294					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GGGACCGCCTCCTTGAGCTGC	0.657																																																	0													28.0	34.0	32.0					2																	95943221		2203	4300	6503	SO:0001819	synonymous_variant	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.882C>T	2.37:g.95943221C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Silent	SNP	pfam_Prominin	p.L294	ENST00000317620.9	37	c.882	CCDS2012.1	2																																																																																			PROM2	-	pfam_Prominin		0.657	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PROM2	HGNC	protein_coding	OTTHUMT00000252771.1	C	NM_144707		95943221	+1	no_errors	ENST00000317620	ensembl	human	known	70_37	silent	SNP	0.013	T
PROS1	5627	genome.wustl.edu	37	3	93692591	93692591	+	Start_Codon_SNP	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:93692591C>G	ENST00000394236.3	-	1	319	c.3G>C	c.(1-3)atG>atC	p.M1I		NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	1					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|negative regulation of endopeptidase activity (GO:0010951)|peptidyl-glutamic acid carboxylation (GO:0017187)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)	blood microparticle (GO:0072562)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|Golgi membrane (GO:0000139)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|endopeptidase inhibitor activity (GO:0004866)			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	CCAGGACCCTCATTTCGAAGC	0.692																																																	0													26.0	29.0	28.0					3																	93692591		2198	4298	6496	SO:0001582	initiator_codon_variant	5627				CCDS2923.1	3q11.1	2013-06-03			ENSG00000184500	ENSG00000184500			9456	protein-coding gene	gene with protein product		176880		PROS		214811, 1833851	Standard	NM_000313		Approved		uc003drb.4	P07225	OTTHUMG00000150354	ENST00000394236.3:c.3G>C	3.37:g.93692591C>G	ENSP00000377783:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAC9|D3DN28|Q15518|Q7Z715|Q9UCZ8	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EGF-like_Ca-bd,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain	p.M1I	ENST00000394236.3	37	c.3	CCDS2923.1	3	.	.	.	.	.	.	.	.	.	.	C	15.27	2.782400	0.49891	.	.	ENSG00000184500	ENST00000394236;ENST00000348974	D;D	0.94457	-2.54;-3.43	3.82	3.82	0.43975	.	0.150909	0.39759	N	0.001270	D	0.95723	0.8609	.	.	.	0.80722	D	1	P	0.45126	0.851	P	0.55391	0.775	D	0.95656	0.8711	9	0.87932	D	0	.	11.5016	0.50441	0.0:1.0:0.0:0.0	.	1	P07225	PROS_HUMAN	I	1	ENSP00000377783:M1I;ENSP00000330021:M1I	ENSP00000330021:M1I	M	-	3	0	PROS1	95175281	1.000000	0.71417	1.000000	0.80357	0.742000	0.42306	3.263000	0.51546	2.437000	0.82529	0.505000	0.49811	ATG	PROS1	-	NULL		0.692	PROS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PROS1	HGNC	protein_coding	OTTHUMT00000317762.1	C	NM_000313	Missense_Mutation	93692591	-1	no_errors	ENST00000394236	ensembl	human	known	70_37	missense	SNP	1.000	G
PRPF18	8559	genome.wustl.edu	37	10	13629114	13629114	+	Silent	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:13629114C>A	ENST00000378572.3	+	1	188	c.28C>A	c.(28-30)Cgg>Agg	p.R10R		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	10					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	potassium channel inhibitor activity (GO:0019870)			central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						AGAGATCCTTCGGAAGCGGCA	0.602																																																	0													100.0	108.0	105.0					10																	13629114		2203	4300	6503	SO:0001819	synonymous_variant	8559			U51990	CCDS7100.1	10p12.33	2013-06-10	2013-06-10		ENSG00000165630	ENSG00000165630			17351	protein-coding gene	gene with protein product		604993	"""PRP18 pre-mRNA processing factor 18 homolog (yeast)"", ""PRP18 pre-mRNA processing factor 18 homolog (S. cerevisiae)"""			9000057	Standard	XM_005252634		Approved	hPrp18	uc001imp.3	Q99633	OTTHUMG00000017702	ENST00000378572.3:c.28C>A	10.37:g.13629114C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9P9|Q9BUI9	Silent	SNP	pfam_Prp18,pfam_PRP4,superfamily_Prp18,smart_SFM	p.R10	ENST00000378572.3	37	c.28	CCDS7100.1	10																																																																																			PRPF18	-	NULL		0.602	PRPF18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF18	HGNC	protein_coding	OTTHUMT00000046879.1	C			13629114	+1	no_errors	ENST00000378572	ensembl	human	known	70_37	silent	SNP	0.995	A
ZNF512B	57473	genome.wustl.edu	37	20	62660803	62660803	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:62660803G>C	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|PRPF6_ENST00000535781.1_Missense_Mutation_p.K795N			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGCCCTGAAGAAGTGTGAGC	0.557																																																	0													111.0	103.0	106.0					20																	62660803		2203	4300	6503	SO:0001627	intron_variant	24148			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+19254C>G	20.37:g.62660803G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AK9|Q9ULM4	Missense_Mutation	SNP	pfam_PRP1_N,smart_HAT,smart_TPR_repeat,pfscan_TPR-contain_dom	p.K835N	ENST00000450537.1	37	c.2505	CCDS13548.1	20	.	.	.	.	.	.	.	.	.	.	G	19.92	3.916183	0.73098	.	.	ENSG00000101161	ENST00000266079;ENST00000535781	T;T	0.36878	1.23;1.23	5.44	5.44	0.79542	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.45975	0.1369	M	0.76838	2.35	0.80722	D	1	P;P	0.45594	0.828;0.862	B;B	0.41723	0.365;0.317	T	0.50013	-0.8877	10	0.41790	T	0.15	-44.8014	19.6383	0.95746	0.0:0.0:1.0:0.0	.	795;835	O94906-2;O94906	.;PRP6_HUMAN	N	835;795	ENSP00000266079:K835N;ENSP00000446216:K795N	ENSP00000266079:K835N	K	+	3	2	PRPF6	62131247	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	6.581000	0.74045	2.728000	0.93425	0.655000	0.94253	AAG	PRPF6	-	NULL		0.557	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPF6	HGNC	protein_coding	OTTHUMT00000080246.1	G	NM_020713		62660803	+1	no_errors	ENST00000266079	ensembl	human	known	70_37	missense	SNP	1.000	C
PRPSAP2	5636	genome.wustl.edu	37	17	18832268	18832268	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:18832268G>C	ENST00000268835.2	+	11	1232	c.949G>C	c.(949-951)Gag>Cag	p.E317Q	PRPSAP2_ENST00000419071.2_Missense_Mutation_p.E277Q|PRPSAP2_ENST00000542013.1_Intron|PRPSAP2_ENST00000536323.1_Missense_Mutation_p.E231Q	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	317					bone development (GO:0060348)|negative regulation of catalytic activity (GO:0043086)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide biosynthetic process (GO:0009165)	ribose phosphate diphosphokinase complex (GO:0002189)	enzyme inhibitor activity (GO:0004857)|magnesium ion binding (GO:0000287)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TGCCATTGATGAGGTAACAGG	0.493																																																	0													129.0	129.0	129.0					17																	18832268		2203	4300	6503	SO:0001583	missense	5636			AB007851	CCDS11200.1, CCDS58525.1, CCDS58526.1, CCDS58527.1	17p12-p11.2	2008-05-14			ENSG00000141127	ENSG00000141127			9467	protein-coding gene	gene with protein product		603762				9806849	Standard	NM_002767		Approved	PAP41	uc002gup.2	O60256	OTTHUMG00000059406	ENST00000268835.2:c.949G>C	17.37:g.18832268G>C	ENSP00000268835:p.Glu317Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E1M8|B4E329|B7ZKZ1|E7EMY2|Q6IAS2	Missense_Mutation	SNP	tigrfam_Rib-P_diPkinase	p.E317Q	ENST00000268835.2	37	c.949	CCDS11200.1	17	.	.	.	.	.	.	.	.	.	.	G	17.23	3.335730	0.60853	.	.	ENSG00000141127	ENST00000395656;ENST00000419071;ENST00000268835;ENST00000536323	T;T;T	0.74842	-0.88;-0.88;-0.88	5.19	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.73791	0.3632	M	0.66378	2.025	0.80722	D	1	P;P;B	0.45768	0.866;0.493;0.365	B;B;B	0.42555	0.391;0.104;0.115	T	0.77286	-0.2644	10	0.59425	D	0.04	-5.5675	14.1423	0.65327	0.0734:0.0:0.9266:0.0	.	277;104;317	E7EMY2;Q6ZTP6;O60256	.;.;KPRB_HUMAN	Q	317;277;317;231	ENSP00000392536:E277Q;ENSP00000268835:E317Q;ENSP00000443967:E231Q	ENSP00000268835:E317Q	E	+	1	0	PRPSAP2	18772993	1.000000	0.71417	0.912000	0.35992	0.940000	0.58332	9.729000	0.98795	1.309000	0.44985	0.585000	0.79938	GAG	PRPSAP2	-	tigrfam_Rib-P_diPkinase		0.493	PRPSAP2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPSAP2	HGNC	protein_coding	OTTHUMT00000132112.3	G	NM_002767		18832268	+1	no_errors	ENST00000268835	ensembl	human	known	70_37	missense	SNP	1.000	C
PRRC2A	7916	genome.wustl.edu	37	6	31597075	31597075	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:31597075G>T	ENST00000376033.2	+	13	2154	c.1920G>T	c.(1918-1920)caG>caT	p.Q640H	PRRC2A_ENST00000376007.4_Missense_Mutation_p.Q640H	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	640	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						CCAAATATCAGAAGTCGTTGC	0.557																																																	0													101.0	111.0	107.0					6																	31597075		2203	4300	6503	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.1920G>T	6.37:g.31597075G>T	ENSP00000365201:p.Gln640His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.Q640H	ENST00000376033.2	37	c.1920	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041406	0.55003	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033	T;T	0.12774	2.65;2.65	5.55	5.55	0.83447	.	0.000000	0.53938	D	0.000056	T	0.24586	0.0596	M	0.64170	1.965	0.49687	D	0.99981	D	0.71674	0.998	D	0.79784	0.993	T	0.00226	-1.1900	10	0.87932	D	0	-15.3194	11.789	0.52059	0.0804:0.0:0.9196:0.0	.	640	P48634	PRC2A_HUMAN	H	640;629;640;640	ENSP00000365175:Q640H;ENSP00000365201:Q640H	ENSP00000365175:Q640H	Q	+	3	2	PRRC2A	31705054	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.427000	0.44740	2.894000	0.99253	0.655000	0.94253	CAG	PRRC2A	-	NULL		0.557	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31597075	+1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	1.000	T
PRRC2A	7916	genome.wustl.edu	37	6	31598979	31598979	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:31598979G>C	ENST00000376033.2	+	16	2763	c.2529G>C	c.(2527-2529)gaG>gaC	p.E843D	PRRC2A_ENST00000376007.4_Missense_Mutation_p.E843D	NM_004638.3	NP_004629.3	P48634	PRC2A_HUMAN	proline-rich coiled-coil 2A	843	4 X 57 AA type A repeats.					cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(6)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|lung(19)|ovary(3)|pancreas(2)|prostate(4)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	70						GCTTTCCTGAGAATGGAGCCC	0.572																																																	0													81.0	92.0	88.0					6																	31598979		1510	2709	4219	SO:0001583	missense	7916			M31293	CCDS4708.1	6p21.3	2010-12-09	2010-12-09	2010-12-09	ENSG00000204469	ENSG00000204469			13918	protein-coding gene	gene with protein product		142580	"""HLA-B associated transcript 2"""	BAT2		2156268, 8499947	Standard	NM_080686		Approved	G2, D6S51E	uc003nvc.4	P48634	OTTHUMG00000031168	ENST00000376033.2:c.2529G>C	6.37:g.31598979G>C	ENSP00000365201:p.Glu843Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UX77|B0UZE9|B0UZL3|O95875|Q05BK4|Q4LE37|Q5SQ29|Q5SQ30|Q5ST84|Q5STX6|Q5STX7|Q68DW9|Q6P9P7|Q6PIN1|Q8MGQ9|Q96QC6	Missense_Mutation	SNP	pfam_BAT2_N	p.E843D	ENST00000376033.2	37	c.2529	CCDS4708.1	6	.	.	.	.	.	.	.	.	.	.	G	10.25	1.298815	0.23650	.	.	ENSG00000204469	ENST00000424184;ENST00000435052;ENST00000376007;ENST00000376033;ENST00000376010	T;T	0.02015	4.5;4.5	5.07	5.07	0.68467	.	0.000000	0.56097	D	0.000026	T	0.02267	0.0070	L	0.29908	0.895	0.39498	D	0.968152	D	0.56521	0.976	P	0.54544	0.755	T	0.56733	-0.7930	10	0.87932	D	0	-20.0943	11.455	0.50176	0.0861:0.0:0.9139:0.0	.	843	P48634	PRC2A_HUMAN	D	843;832;843;843;68	ENSP00000365175:E843D;ENSP00000365201:E843D	ENSP00000365175:E843D	E	+	3	2	PRRC2A	31706958	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.201000	0.51059	2.653000	0.90120	0.561000	0.74099	GAG	PRRC2A	-	NULL		0.572	PRRC2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2A	HGNC	protein_coding	OTTHUMT00000259319.1	G	NM_080686		31598979	+1	no_errors	ENST00000376007	ensembl	human	known	70_37	missense	SNP	1.000	C
PRRC2B	84726	genome.wustl.edu	37	9	134351139	134351139	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:134351139G>A	ENST00000357304.4	+	15	3678	c.3623G>A	c.(3622-3624)cGg>cAg	p.R1208Q	PRRC2B_ENST00000372249.1_5'UTR|PRRC2B_ENST00000458550.1_Intron|PRRC2B_ENST00000405995.1_Intron	NM_013318.3	NP_037450.2	Q5JSZ5	PRC2B_HUMAN	proline-rich coiled-coil 2B	1208							poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(20)|ovary(2)	44						CTCCCTCCCCGGCTGAGCAAT	0.607																																																	0													24.0	26.0	25.0					9																	134351139		1977	4148	6125	SO:0001583	missense	84726			AB011087	CCDS48044.1	9q34.13	2010-12-09	2010-12-09	2010-12-09	ENSG00000130723	ENSG00000130723			28121	protein-coding gene	gene with protein product			"""KIAA0515"", ""HLA-B associated transcript 2-like"", ""HLA-B associated transcript 2-like 1"""	KIAA0515, BAT2L, BAT2L1		9628581	Standard	NM_013318		Approved	MGC10526, LQFBS-1	uc004can.4	Q5JSZ5	OTTHUMG00000020827	ENST00000357304.4:c.3623G>A	9.37:g.134351139G>A	ENSP00000349856:p.Arg1208Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60270|Q5JSZ7|Q66VZ2|Q68CR0|Q96EI9|Q9H683	Missense_Mutation	SNP	pfam_BAT2_N	p.R1208Q	ENST00000357304.4	37	c.3623	CCDS48044.1	9	.	.	.	.	.	.	.	.	.	.	G	29.0	4.967634	0.92855	.	.	ENSG00000130723	ENST00000357304;ENST00000418650	T	0.27402	1.67	5.54	5.54	0.83059	.	.	.	.	.	T	0.53465	0.1798	L	0.56769	1.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.994	T	0.45425	-0.9262	8	.	.	.	.	18.4662	0.90755	0.0:0.0:1.0:0.0	.	504;1208	Q5H9R5;Q5JSZ5	.;PRC2B_HUMAN	Q	1208;504	ENSP00000349856:R1208Q	.	R	+	2	0	PRRC2B	133340960	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	9.409000	0.97331	2.607000	0.88179	0.462000	0.41574	CGG	PRRC2B	-	NULL		0.607	PRRC2B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PRRC2B	HGNC	protein_coding		G			134351139	+1	no_errors	ENST00000357304	ensembl	human	known	70_37	missense	SNP	1.000	A
PRSS1	5644	genome.wustl.edu	37	7	142459659	142459659	+	Nonsense_Mutation	SNP	G	G	T	rs111033564	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:142459659G>T	ENST00000311737.7	+	3	241	c.235G>T	c.(235-237)Gaa>Taa	p.E79*	PRSS1_ENST00000486171.1_Nonsense_Mutation_p.E93*	NM_002769.4	NP_002760.1	P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	79	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		E -> K (in PCTT; Lys-79 trypsin activates anionic trypsinogen PRSS2 2-fold while the common pancreatitis-associated mutants His-122 or Ile-29 have no such effect; dbSNP:rs28934902). {ECO:0000269|PubMed:14695529}.		cobalamin metabolic process (GO:0009235)|digestion (GO:0007586)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)		Aprotinin(DB06692)	GCACAACATCGAAGTCCTGGA	0.547																																																	0			GRCh37	CM011001	PRSS1	M	rs111033564						199.0	188.0	192.0					7																	142459659		2203	4300	6503	SO:0001587	stop_gained	5644			M22612	CCDS5872.1	7q34	2012-10-02			ENSG00000204983	ENSG00000204983	3.4.21.4	"""Serine peptidases / Serine peptidases"""	9475	protein-coding gene	gene with protein product		276000		TRY1			Standard	NM_002769		Approved		uc003wak.2	P07477	OTTHUMG00000158923	ENST00000311737.7:c.235G>T	7.37:g.142459659G>T	ENSP00000308720:p.Glu79*	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A509|A6NJ71|B2R5I5|Q5NV57|Q7M4N3|Q7M4N4|Q92955|Q9HAN4|Q9HAN5|Q9HAN6|Q9HAN7	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E79*	ENST00000311737.7	37	c.235	CCDS5872.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.177|9.177	1.022555|1.022555	0.19433|0.19433	.|.	.|.	ENSG00000204983|ENSG00000204983	ENST00000529243|ENST00000486171;ENST00000311737;ENST00000492062	.|.	.|.	.|.	3.28|3.28	-0.961|-0.961	0.10337|0.10337	.|.	.|0.756857	.|0.13562	.|N	.|0.378759	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.06365	.|T	.|0.9	.|.	5.0305|5.0305	0.14407|0.14407	0.2676:0.162:0.5704:0.0|0.2676:0.162:0.5704:0.0	.|.	.|.	.|.	.|.	.|X	-1|93;79;29	.|.	.|ENSP00000308720:E79X	.|E	+|+	.|1	.|0	PRSS1|PRSS1	142139233|142139233	0.000000|0.000000	0.05858|0.05858	0.219000|0.219000	0.23793|0.23793	0.074000|0.074000	0.17049|0.17049	0.587000|0.587000	0.23909|0.23909	0.009000|0.009000	0.14813|0.14813	-1.156000|-1.156000	0.01807|0.01807	.|GAA	PRSS1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.547	PRSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS1	HGNC	protein_coding	OTTHUMT00000352538.2	G			142459659	+1	no_errors	ENST00000311737	ensembl	human	known	70_37	nonsense	SNP	0.373	T
PRSS53	339105	genome.wustl.edu	37	16	31098175	31098175	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:31098175G>A	ENST00000280606.6	-	4	440	c.287C>T	c.(286-288)tCt>tTt	p.S96F		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	96	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			large_intestine(1)|lung(3)	4						ACGCTGCAGAGAACCCAGGAC	0.617																																																	0													42.0	44.0	44.0					16																	31098175		2068	4216	6284	SO:0001583	missense	339105				CCDS42153.1	16p11.2	2010-05-07			ENSG00000151006	ENSG00000151006		"""Serine peptidases / Serine peptidases"""	34407	protein-coding gene	gene with protein product	"""polyserase 3"""	610561				16566820	Standard	NM_001039503		Approved	POL3S	uc002eaq.3	Q2L4Q9	OTTHUMG00000047358	ENST00000280606.6:c.287C>T	16.37:g.31098175G>A	ENSP00000280606:p.Ser96Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.S96F	ENST00000280606.6	37	c.287	CCDS42153.1	16	.	.	.	.	.	.	.	.	.	.	G	16.51	3.142577	0.57044	.	.	ENSG00000151006	ENST00000280606	D	0.89343	-2.5	5.75	5.75	0.90469	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.36200	U	0.002726	D	0.93409	0.7898	M	0.71296	2.17	0.47949	D	0.999551	D	0.76494	0.999	D	0.83275	0.996	D	0.93184	0.6577	10	0.56958	D	0.05	.	13.1084	0.59259	0.0:0.1607:0.8393:0.0	.	96	Q2L4Q9	PRS53_HUMAN	F	96	ENSP00000280606:S96F	ENSP00000280606:S96F	S	-	2	0	PRSS53	31005676	1.000000	0.71417	1.000000	0.80357	0.495000	0.33615	3.044000	0.49830	2.720000	0.93068	0.655000	0.94253	TCT	PRSS53	-	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.617	PRSS53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS53	HGNC	protein_coding	OTTHUMT00000108580.4	G	NM_001081268		31098175	-1	no_errors	ENST00000280606	ensembl	human	known	70_37	missense	SNP	1.000	A
PRUNE2	158471	genome.wustl.edu	37	9	79322089	79322089	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:79322089C>G	ENST00000376718.3	-	8	5224	c.5101G>C	c.(5101-5103)Gag>Cag	p.E1701Q	PRUNE2_ENST00000428286.1_Missense_Mutation_p.E1342Q	NM_015225.2	NP_056040.2	Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1701					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						ACCTGGATCTCTTCCTCTATT	0.473																																																	0													83.0	72.0	75.0					9																	79322089		1568	3582	5150	SO:0001583	missense	158471			BC019095	CCDS47982.1	9q21.32	2013-04-29	2006-11-24	2006-11-24	ENSG00000106772	ENSG00000106772			25209	protein-coding gene	gene with protein product	"""olfaxin"""	610691	"""chromosome 9 open reading frame 65"", ""KIAA0367"""	C9orf65, KIAA0367		16288218	Standard	NM_015225		Approved	BMCC1, BNIPXL, A214N16.3, bA214N16.3	uc010mpk.3	Q8WUY3	OTTHUMG00000020047	ENST00000376718.3:c.5101G>C	9.37:g.79322089C>G	ENSP00000365908:p.Glu1701Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KYC4|B4DQH8|O15073|Q58A63|Q5JUB6|Q5T304|Q5T476|Q6T2V6|Q6T2V7|Q8N665	Missense_Mutation	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.E1342Q	ENST00000376718.3	37	c.4024	CCDS47982.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	7.433|7.433	0.639156|0.639156	0.14386|0.14386	.|.	.|.	ENSG00000106772|ENSG00000106772	ENST00000376718;ENST00000428286;ENST00000422033|ENST00000426088	T;T|.	0.55588|.	0.51;0.51|.	5.83|5.83	3.97|3.97	0.46021|0.46021	.|.	0.995451|.	0.08143|.	N|.	0.991346|.	T|T	0.47284|0.47284	0.1437|0.1437	M|M	0.62723|0.62723	1.935|1.935	0.09310|0.09310	N|N	0.999992|0.999992	P|.	0.50272|.	0.933|.	B|.	0.39706|.	0.307|.	T|T	0.33317|0.33317	-0.9873|-0.9873	10|5	0.87932|.	D|.	0|.	-0.0408|-0.0408	9.529|9.529	0.39182|0.39182	0.0:0.7719:0.0:0.2281|0.0:0.7719:0.0:0.2281	.|.	1701|.	Q8WUY3|.	PRUN2_HUMAN|.	Q|T	1701;1342;1700|1022	ENSP00000365908:E1701Q;ENSP00000397425:E1342Q|.	ENSP00000365908:E1701Q|.	E|R	-|-	1|2	0|0	PRUNE2|PRUNE2	78511909|78511909	0.277000|0.277000	0.24220|0.24220	0.007000|0.007000	0.13788|0.13788	0.116000|0.116000	0.19942|0.19942	0.520000|0.520000	0.22878|0.22878	0.785000|0.785000	0.33685|0.33685	0.655000|0.655000	0.94253|0.94253	GAG|AGA	PRUNE2	-	NULL		0.473	PRUNE2-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PRUNE2	HGNC	protein_coding	OTTHUMT00000052730.2	C	NM_138818		79322089	-1	no_errors	ENST00000428286	ensembl	human	known	70_37	missense	SNP	0.066	G
PRX	57716	genome.wustl.edu	37	19	40901211	40901211	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:40901211G>A	ENST00000324001.7	-	7	3318	c.3048C>T	c.(3046-3048)ttC>ttT	p.F1016F	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1016					axon ensheathment (GO:0008366)|cell death (GO:0008219)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGCCCCTTGAACTTGAGGT	0.642																																																	0													40.0	44.0	43.0					19																	40901211		2203	4300	6503	SO:0001819	synonymous_variant	57716			AB046840	CCDS12556.1, CCDS33028.1	19q13.2	2014-09-17				ENSG00000105227			13797	protein-coding gene	gene with protein product		605725				10839370, 9143514	Standard	NM_181882		Approved	KIAA1620	uc002onr.3	Q9BXM0		ENST00000324001.7:c.3048C>T	19.37:g.40901211G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXL9|Q9HCF2	Silent	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.F1016	ENST00000324001.7	37	c.3048	CCDS33028.1	19																																																																																			PRX	-	NULL		0.642	PRX-001	KNOWN	basic|CCDS	protein_coding	PRX	HGNC	protein_coding	OTTHUMT00000462582.1	G	NM_020956		40901211	-1	no_errors	ENST00000324001	ensembl	human	known	70_37	silent	SNP	0.985	A
PSD	5662	genome.wustl.edu	37	10	104176302	104176302	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:104176302G>A	ENST00000020673.5	-	2	1020	c.494C>T	c.(493-495)tCg>tTg	p.S165L	PSD_ENST00000492902.2_5'Flank|PSD_ENST00000406432.1_Missense_Mutation_p.S165L	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	165	Pro-rich.				neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phospholipid binding (GO:0005543)|signal transducer activity (GO:0004871)			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGTAGGGCCGAGCCTCCTCT	0.662																																																	0													20.0	23.0	22.0					10																	104176302		2202	4300	6502	SO:0001583	missense	5662			X99688	CCDS31272.1, CCDS73187.1	10q24	2013-01-10	2004-04-28		ENSG00000059915	ENSG00000059915		"""Pleckstrin homology (PH) domain containing"""	9507	protein-coding gene	gene with protein product		602327	"""pleckstrin and Sec7 domain protein"""			9417912	Standard	NM_002779		Approved	KIAA2011, TYL, PSD1	uc009xxd.2	A5PKW4	OTTHUMG00000018954	ENST00000020673.5:c.494C>T	10.37:g.104176302G>A	ENSP00000020673:p.Ser165Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKX7|D3DR87|Q15673|Q8IVG0	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7,prints_PH_dom-spectrin-type	p.S165L	ENST00000020673.5	37	c.494	CCDS31272.1	10	.	.	.	.	.	.	.	.	.	.	G	8.123	0.781278	0.16120	.	.	ENSG00000059915	ENST00000020673;ENST00000541902;ENST00000406432	T;T	0.22134	1.97;1.97	4.74	3.81	0.43845	.	0.235797	0.27720	N	0.018122	T	0.09335	0.0230	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.23619	-1.0183	10	0.28530	T	0.3	.	6.3152	0.21186	0.0977:0.1894:0.7129:0.0	.	165	A5PKW4	PSD1_HUMAN	L	165;68;165	ENSP00000020673:S165L;ENSP00000384830:S165L	ENSP00000020673:S165L	S	-	2	0	PSD	104166292	0.428000	0.25522	0.045000	0.18777	0.170000	0.22686	2.848000	0.48278	1.195000	0.43115	0.561000	0.74099	TCG	PSD	-	NULL		0.662	PSD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PSD	HGNC	protein_coding	OTTHUMT00000050041.2	G			104176302	-1	no_errors	ENST00000020673	ensembl	human	known	70_37	missense	SNP	0.033	A
PSG8	440533	genome.wustl.edu	37	19	43259329	43259329	+	Missense_Mutation	SNP	C	C	T	rs140231543		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:43259329C>T	ENST00000306511.4	-	4	896	c.799G>A	c.(799-801)Gag>Aag	p.E267K	PSG8_ENST00000600709.1_Intron|PSG8_ENST00000406636.3_Missense_Mutation_p.E145K|PSG8_ENST00000404209.4_Missense_Mutation_p.E267K|PSG8_ENST00000401467.2_Missense_Mutation_p.E174K	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	267	Ig-like C2-type 2.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTGTAGTTCTCACTCTTAGGT	0.478																																																	0								C	LYS/GLU,LYS/GLU,LYS/GLU	0,4406		0,0,2203	121.0	123.0	122.0		799,433,799	-2.5	0.0	19	dbSNP_134	122	2,8590		0,2,4294	no	missense,missense,missense	PSG8	NM_001130167.1,NM_001130168.1,NM_182707.2	56,56,56	0,2,6497	TT,TC,CC		0.0233,0.0,0.0154	benign,benign,benign	267/420,145/298,267/427	43259329	2,12996	2203	4296	6499	SO:0001583	missense	440533			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.799G>A	19.37:g.43259329C>T	ENSP00000305005:p.Glu267Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.E267K	ENST00000306511.4	37	c.799	CCDS33037.1	19	.	.	.	.	.	.	.	.	.	.	N	5.624	0.299792	0.10622	0.0	2.33E-4	ENSG00000124467	ENST00000404209;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.09538	2.97;2.97;2.97;2.97	1.26	-2.52	0.06346	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05364	0.0142	N	0.10945	0.07	0.09310	N	1	B;B;B;B;B;B	0.10296	0.0;0.003;0.003;0.0;0.0;0.0	B;B;B;B;B;B	0.15052	0.003;0.008;0.012;0.008;0.007;0.012	T	0.35822	-0.9773	9	0.54805	T	0.06	.	6.84	0.23957	0.0:0.4908:0.5092:0.0	.	145;174;267;174;267;267	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	K	267;145;174;79;174;267	ENSP00000385869:E267K;ENSP00000385081:E145K;ENSP00000386090:E174K;ENSP00000305005:E267K	ENSP00000305005:E267K	E	-	1	0	PSG8	47951169	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.092000	0.11129	-1.343000	0.02219	-1.318000	0.01297	GAG	PSG8	-	smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.478	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSG8	HGNC	protein_coding	OTTHUMT00000464526.1	C			43259329	-1	no_errors	ENST00000306511	ensembl	human	known	70_37	missense	SNP	0.000	T
PSG8	440533	genome.wustl.edu	37	19	43349407	43349407	+	Intron	SNP	T	T	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:43349407T>A	ENST00000401467.2	-	1	136				PSG10P_ENST00000597171.1_RNA			Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8							extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTCCCTGGGTTTTGAGTTGTT	0.493																																																	0																																										SO:0001627	intron_variant	653492			M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000401467.2:c.64+10300A>T	19.37:g.43349407T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	RNA	SNP	-	NULL	ENST00000401467.2	37	NULL		19																																																																																			PSG10P	-	-		0.493	PSG8-009	PUTATIVE	basic	protein_coding	PSG10P	HGNC	protein_coding	OTTHUMT00000464525.1	T			43349407	-1	no_errors	ENST00000597171	ensembl	human	known	70_37	rna	SNP	0.000	A
PSMD4	5710	genome.wustl.edu	37	1	151234722	151234722	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:151234722C>T	ENST00000368884.3	+	2	192	c.112C>T	c.(112-114)Cat>Tat	p.H38Y	PSMD4_ENST00000368881.4_Missense_Mutation_p.H38Y	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	38	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			CATAGTTTGTCATTCAAAGAC	0.527																																																	0													129.0	118.0	122.0					1																	151234722		2203	4300	6503	SO:0001583	missense	5710			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.112C>T	1.37:g.151234722C>T	ENSP00000357879:p.His38Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV16|Q5VWC5|Q9NS92	Missense_Mutation	SNP	pfam_Ubiquitin-int_motif,pfam_Ssl1-like,smart_VWF_A,smart_Ubiquitin-int_motif,pfscan_Ubiquitin-int_motif,pfscan_VWF_A	p.H38Y	ENST00000368884.3	37	c.112	CCDS991.1	1	.	.	.	.	.	.	.	.	.	.	C	18.85	3.711600	0.68730	.	.	ENSG00000159352	ENST00000368884;ENST00000368881;ENST00000437736	T;T;T	0.13778	2.56;2.56;2.56	4.35	4.35	0.52113	Ssl1-like (1);von Willebrand factor, type A (2);	0.207947	0.38605	N	0.001636	T	0.14830	0.0358	M	0.62723	1.935	0.49687	D	0.999818	P;P	0.38300	0.626;0.626	P;P	0.46419	0.516;0.516	T	0.00804	-1.1559	10	0.62326	D	0.03	-9.2896	13.9142	0.63887	0.0:1.0:0.0:0.0	.	38;38	Q5VWC4;P55036	.;PSMD4_HUMAN	Y	38;38;23	ENSP00000357879:H38Y;ENSP00000357876:H38Y;ENSP00000414499:H23Y	ENSP00000357876:H38Y	H	+	1	0	PSMD4	149501346	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.112000	0.77086	2.256000	0.74724	0.484000	0.47621	CAT	PSMD4	-	pfam_Ssl1-like,smart_VWF_A,pfscan_VWF_A		0.527	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD4	HGNC	protein_coding	OTTHUMT00000034409.3	C	NM_002810		151234722	+1	no_errors	ENST00000368884	ensembl	human	known	70_37	missense	SNP	1.000	T
PSMD4	5710	genome.wustl.edu	37	1	151236293	151236293	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:151236293G>C	ENST00000368884.3	+	3	247				PSMD4_ENST00000469786.2_3'UTR|PSMD4_ENST00000368881.4_Intron	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle, base subcomplex (GO:0008540)	identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			gtgacagagtgagactccgtc	0.498																																																	0																																										SO:0001627	intron_variant	5710			U51007	CCDS991.1	1q21.2	2008-05-22			ENSG00000159352	ENSG00000159352		"""Proteasome (prosome, macropain) subunits"""	9561	protein-coding gene	gene with protein product		601648				8641424	Standard	XM_005245354		Approved	S5A, AF-1, AF, Rpn10	uc001exl.3	P55036	OTTHUMG00000012349	ENST00000368884.3:c.168-97G>C	1.37:g.151236293G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV16|Q5VWC5|Q9NS92	RNA	SNP	-	NULL	ENST00000368884.3	37	NULL	CCDS991.1	1																																																																																			PSMD4	-	-		0.498	PSMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMD4	HGNC	protein_coding	OTTHUMT00000034409.3	G	NM_002810		151236293	+1	no_errors	ENST00000469786	ensembl	human	putative	70_37	rna	SNP	0.000	C
PSMG3	84262	genome.wustl.edu	37	7	1607367	1607367	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:1607367C>G	ENST00000288607.2	-	2	989	c.336G>C	c.(334-336)ctG>ctC	p.L112L	PSMG3_ENST00000252329.3_Silent_p.L112L|PSMG3_ENST00000404674.3_Silent_p.L112L|PSMG3-AS1_ENST00000437621.2_lincRNA	NM_032302.3	NP_115678.1	Q9BT73	PSMG3_HUMAN	proteasome (prosome, macropain) assembly chaperone 3	112										lung(2)	2		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.63e-15)		TCACCTCCCTCAGCGCCTTCA	0.617																																																	0													90.0	72.0	78.0					7																	1607367		2203	4300	6503	SO:0001819	synonymous_variant	84262			BC027171	CCDS5327.1	7p22.3	2010-07-07	2007-08-16	2007-08-16	ENSG00000157778	ENSG00000157778			22420	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 48"""	C7orf48		17189198	Standard	NM_032302		Approved	MGC10911, PAC3	uc011jvx.1	Q9BT73	OTTHUMG00000119043	ENST00000288607.2:c.336G>C	7.37:g.1607367C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D216|A8MPW2	Silent	SNP	pfam_Proteasome_assmbl_chp_3	p.L112	ENST00000288607.2	37	c.336	CCDS5327.1	7																																																																																			PSMG3	-	pfam_Proteasome_assmbl_chp_3		0.617	PSMG3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PSMG3	HGNC	protein_coding	OTTHUMT00000239254.2	C	NM_032302		1607367	-1	no_errors	ENST00000252329	ensembl	human	known	70_37	silent	SNP	0.947	G
PTBP1	5725	genome.wustl.edu	37	19	808419	808419	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:808419G>C	ENST00000349038.4	+	11	1208	c.1135G>C	c.(1135-1137)Gtg>Ctg	p.V379L	PTBP1_ENST00000394601.4_Missense_Mutation_p.V398L|PTBP1_ENST00000350092.4_Missense_Mutation_p.V45L|PTBP1_ENST00000356948.6_Missense_Mutation_p.V405L	NM_031991.3	NP_114368.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	379	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|negative regulation of muscle cell differentiation (GO:0051148)|negative regulation of RNA splicing (GO:0033119)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|poly-pyrimidine tract binding (GO:0008187)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GAACGCCCTAGTGCAGATGGC	0.677																																																	0													23.0	21.0	22.0					19																	808419		2195	4296	6491	SO:0001583	missense	5725			X60648	CCDS32859.1, CCDS42456.1, CCDS45892.1	19p13.3	2013-07-16	2002-01-25	2002-01-25	ENSG00000011304	ENSG00000011304		"""RNA binding motif (RRM) containing"""	9583	protein-coding gene	gene with protein product	"""heterogeneous nuclear ribonucleoprotein I"""	600693	"""polypyrimidine tract binding protein (heterogeneous nuclear ribonucleoprotein I)"""	PTB		1906036, 11024286	Standard	NM_002819		Approved	HNRPI, HNRNP-I, PTB2, PTB3, PTB-1, PTB4, pPTB	uc002lpp.2	P26599		ENST00000349038.4:c.1135G>C	19.37:g.808419G>C	ENSP00000014112:p.Val379Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BUQ0	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.V405L	ENST00000349038.4	37	c.1213	CCDS32859.1	19	.	.	.	.	.	.	.	.	.	.	G	15.27	2.782725	0.49891	.	.	ENSG00000011304	ENST00000356948;ENST00000394601;ENST00000349038;ENST00000350092	T;T;T;T	0.64085	-0.08;2.32;0.1;0.59	4.77	4.77	0.60923	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.064551	0.64402	D	0.000011	T	0.74145	0.3678	M	0.88640	2.97	0.80722	D	1	B;B;B;B	0.15141	0.009;0.005;0.012;0.002	B;B;B;B	0.35727	0.209;0.072;0.105;0.072	T	0.75371	-0.3341	10	0.49607	T	0.09	-47.1287	16.7646	0.85521	0.0:0.0:1.0:0.0	.	45;379;398;405	A6NLN1;P26599;P26599-2;Q9BUQ0	.;PTBP1_HUMAN;.;.	L	405;398;379;45	ENSP00000349428:V405L;ENSP00000408096:V398L;ENSP00000014112:V379L;ENSP00000342332:V45L	ENSP00000014112:V379L	V	+	1	0	PTBP1	759419	1.000000	0.71417	0.993000	0.49108	0.792000	0.44763	3.789000	0.55454	2.198000	0.70561	0.455000	0.32223	GTG	PTBP1	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.677	PTBP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTBP1	HGNC	protein_coding	OTTHUMT00000457605.1	G			808419	+1	no_errors	ENST00000356948	ensembl	human	known	70_37	missense	SNP	1.000	C
PSPN	5623	genome.wustl.edu	37	19	6375622	6375622	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:6375622G>A	ENST00000245810.1	-	2	153	c.154C>T	c.(154-156)Cac>Tac	p.H52Y	PSPN_ENST00000597721.1_Missense_Mutation_p.P80L	NM_004158.2	NP_004149.1	O60542	PSPN_HUMAN	persephin	52					axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|central nervous system development (GO:0007417)|nervous system development (GO:0007399)	extracellular space (GO:0005615)	receptor binding (GO:0005102)			lung(1)|ovary(1)|skin(1)	3						AGGGGGCGGTGGGTGCCTGTG	0.667																																																	0													23.0	21.0	22.0					19																	6375622		2192	4289	6481	SO:0001583	missense	5623			AF040962	CCDS12164.1	19p13.3	2014-01-30				ENSG00000125650		"""Endogenous ligands"""	9579	protein-coding gene	gene with protein product		602921				10072588	Standard	NM_004158		Approved	PSP	uc010xja.2	O60542		ENST00000245810.1:c.154C>T	19.37:g.6375622G>A	ENSP00000245810:p.His52Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_TGF-b_C,smart_TGF-b_C	p.H52Y	ENST00000245810.1	37	c.154	CCDS12164.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	10.15|10.15	1.271895|1.271895	0.23221|0.23221	.|.	.|.	ENSG00000125650|ENSG00000125650	ENST00000245810|ENST00000545374	D|.	0.88277|.	-2.36|.	2.27|2.27	1.14|1.14	0.20703|0.20703	.|.	.|.	.|.	.|.	.|.	T|T	0.20495|0.20495	0.0493|0.0493	N|N	0.08118|0.08118	0|0	0.22001|0.22001	N|N	0.999425|0.999425	B|.	0.22541|.	0.071|.	B|.	0.22880|.	0.042|.	T|T	0.23797|0.23797	-1.0178|-1.0178	9|6	0.48119|0.87932	T|D	0.1|0	-23.9824|-23.9824	7.2462|7.2462	0.26124|0.26124	0.0:0.2777:0.7223:0.0|0.0:0.2777:0.7223:0.0	.|.	52|.	O60542|.	PSPN_HUMAN|.	Y|L	52|80	ENSP00000245810:H52Y|.	ENSP00000245810:H52Y|ENSP00000438257:P80L	H|P	-|-	1|2	0|0	PSPN|PSPN	6326622|6326622	0.001000|0.001000	0.12720|0.12720	0.042000|0.042000	0.18584|0.18584	0.065000|0.065000	0.16274|0.16274	0.114000|0.114000	0.15520|0.15520	0.215000|0.215000	0.20761|0.20761	0.313000|0.313000	0.20887|0.20887	CAC|CCA	PSPN	-	NULL		0.667	PSPN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSPN	HGNC	protein_coding	OTTHUMT00000398032.1	G	NM_004158		6375622	-1	no_errors	ENST00000245810	ensembl	human	known	70_37	missense	SNP	0.956	A
PTCH2	8643	genome.wustl.edu	37	1	45292359	45292359	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:45292359G>A	ENST00000372192.3	-	18	2907	c.2777C>T	c.(2776-2778)gCc>gTc	p.A926V	PTCH2_ENST00000447098.2_Missense_Mutation_p.A926V	NM_003738.4	NP_003729.3	Q9Y6C5	PTC2_HUMAN	patched 2	926					epidermis development (GO:0008544)|hair cycle (GO:0042633)|negative regulation of smoothened signaling pathway (GO:0045879)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|smoothened binding (GO:0005119)			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCCCTCGATGGCCTCCACAAA	0.672									Basal Cell Nevus syndrome																																								0													15.0	18.0	17.0					1																	45292359		2196	4283	6479	SO:0001583	missense	8643	Familial Cancer Database	Gorlin syndrome, Gorlin-Golz syndrome, Naevoid Basal Cell Carcinoma syndrome, NBCCS	AF091501	CCDS516.1, CCDS53312.1	1p34.1	2010-06-24	2010-06-24		ENSG00000117425	ENSG00000117425			9586	protein-coding gene	gene with protein product		603673	"""patched (Drosophila) homolog 2"", ""patched homolog 2 (Drosophila)"""			9811851, 9931336	Standard	NM_003738		Approved		uc010olf.2	Q9Y6C5	OTTHUMG00000008490	ENST00000372192.3:c.2777C>T	1.37:g.45292359G>A	ENSP00000361266:p.Ala926Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95341|O95856|Q53Z57|Q5QP87|Q6UX14	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD,tigrfam_TM_rcpt_patched	p.A926V	ENST00000372192.3	37	c.2777	CCDS516.1	1	.	.	.	.	.	.	.	.	.	.	G	10.46	1.355866	0.24598	.	.	ENSG00000117425	ENST00000447098;ENST00000372192	D;D	0.85861	-2.04;-2.04	3.89	3.89	0.44902	.	0.138835	0.33477	N	0.004870	D	0.86066	0.5844	L	0.48642	1.525	0.50813	D	0.999895	B;P	0.45827	0.165;0.867	B;P	0.53760	0.083;0.734	T	0.82305	-0.0523	10	0.15952	T	0.53	-36.6122	17.1751	0.86839	0.0:0.0:1.0:0.0	.	926;926	Q9Y6C5-2;Q9Y6C5	.;PTC2_HUMAN	V	926	ENSP00000389703:A926V;ENSP00000361266:A926V	ENSP00000361266:A926V	A	-	2	0	PTCH2	45064946	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.227000	0.78070	2.462000	0.83206	0.563000	0.77884	GCC	PTCH2	-	pfam_Patched,tigrfam_TM_rcpt_patched		0.672	PTCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCH2	HGNC	protein_coding	OTTHUMT00000023428.4	G	NM_003738		45292359	-1	no_errors	ENST00000372192	ensembl	human	known	70_37	missense	SNP	1.000	A
PTCHD1	139411	genome.wustl.edu	37	X	23398156	23398156	+	Missense_Mutation	SNP	T	T	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:23398156T>A	ENST00000379361.4	+	2	1660	c.800T>A	c.(799-801)gTa>gAa	p.V267E		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	267					cognition (GO:0050890)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	hedgehog receptor activity (GO:0008158)	p.V162E(1)|p.V267E(1)		NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ACCAGCCGCGTATCAGAACGT	0.522																																																	2	Substitution - Missense(2)	lung(2)											177.0	152.0	161.0					X																	23398156		2203	4300	6503	SO:0001583	missense	139411			AK054858	CCDS35215.2	Xp22.13	2008-02-05			ENSG00000165186	ENSG00000165186			26392	protein-coding gene	gene with protein product		300828					Standard	NM_173495		Approved	FLJ30296	uc004dal.4	Q96NR3	OTTHUMG00000021251	ENST00000379361.4:c.800T>A	X.37:g.23398156T>A	ENSP00000368666:p.Val267Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQH0|Q0IJ60|Q6P6B8	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.V267E	ENST00000379361.4	37	c.800	CCDS35215.2	X	.	.	.	.	.	.	.	.	.	.	T	21.1	4.101984	0.76983	.	.	ENSG00000165186	ENST00000379361	D	0.84589	-1.87	4.86	4.86	0.63082	.	0.064498	0.64402	D	0.000010	D	0.83686	0.5308	L	0.34521	1.04	0.46701	D	0.999165	D;B	0.56968	0.978;0.002	P;B	0.58266	0.836;0.005	T	0.79699	-0.1694	10	0.06625	T	0.88	.	13.8052	0.63225	0.0:0.0:0.0:1.0	.	162;267	Q96NR3-3;Q96NR3	.;PTHD1_HUMAN	E	267	ENSP00000368666:V267E	ENSP00000368666:V267E	V	+	2	0	PTCHD1	23308077	1.000000	0.71417	0.660000	0.29694	0.949000	0.60115	7.482000	0.81143	1.903000	0.55091	0.486000	0.48141	GTA	PTCHD1	-	pfam_Patched		0.522	PTCHD1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD1	HGNC	protein_coding	OTTHUMT00000056047.2	T	NM_173495		23398156	+1	no_errors	ENST00000379361	ensembl	human	known	70_37	missense	SNP	0.996	A
PTGFRN	5738	genome.wustl.edu	37	1	117509651	117509651	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:117509651C>T	ENST00000393203.2	+	6	1905	c.1758C>T	c.(1756-1758)ctC>ctT	p.L586L		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	586	Ig-like C2-type 5.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTCTGTTCTCATCATGGCTG	0.483																																																	0													70.0	74.0	73.0					1																	117509651		2203	4300	6503	SO:0001819	synonymous_variant	5738			AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1758C>T	1.37:g.117509651C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVU9|Q8N2K6	Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.L586	ENST00000393203.2	37	c.1758	CCDS890.1	1																																																																																			PTGFRN	-	smart_Ig_sub		0.483	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFRN	HGNC	protein_coding	OTTHUMT00000033271.1	C	NM_020440		117509651	+1	no_errors	ENST00000393203	ensembl	human	known	70_37	silent	SNP	1.000	T
PTK2	5747	genome.wustl.edu	37	8	141685663	141685663	+	Intron	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:141685663C>A	ENST00000522684.1	-	28	2792				PTK2_ENST00000535192.1_Intron|PTK2_ENST00000521059.1_Intron|PTK2_ENST00000519465.1_Intron|PTK2_ENST00000340930.3_Intron|PTK2_ENST00000395218.2_Intron|PTK2_ENST00000517887.1_Intron|PTK2_ENST00000519419.1_Intron|PTK2_ENST00000538769.1_Intron|PTK2_ENST00000430260.2_Intron	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2						angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CCTCTCTCACCCACCCTGTCT	0.443																																																	0													135.0	106.0	115.0					8																	141685663		692	1591	2283	SO:0001627	intron_variant	5747			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.2563-65G>T	8.37:g.141685663C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2N6|F5H4S4|Q14291|Q9UD85	RNA	SNP	-	NULL	ENST00000522684.1	37	NULL	CCDS6381.1	8																																																																																			PTK2	-	-		0.443	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	C	NM_005607		141685663	-1	no_errors	ENST00000520460	ensembl	human	known	70_37	rna	SNP	0.195	A
PTK7	5754	genome.wustl.edu	37	6	43112169	43112169	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:43112169C>T	ENST00000230419.4	+	15	2472				PTK7_ENST00000352931.2_Intron|PTK7_ENST00000349241.2_Intron|PTK7_ENST00000345201.2_Intron|PTK7_ENST00000481273.1_Intron	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7						actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TCGTGACGCTCTTGTCCTCCT	0.597																																																	0													69.0	68.0	69.0					6																	43112169		2203	4300	6503	SO:0001627	intron_variant	5754			AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.2252-20C>T	6.37:g.43112169C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	NULL	p.L12	ENST00000230419.4	37	c.36	CCDS4884.1	6																																																																																			PTK7	-	NULL		0.597	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK7	HGNC	protein_coding	OTTHUMT00000040580.2	C			43112169	+1	no_errors	ENST00000461389	ensembl	human	known	70_37	silent	SNP	0.001	T
PTP4A1	7803	genome.wustl.edu	37	6	64282609	64282609	+	5'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:64282609G>A	ENST00000370651.3	+	0	693				PTP4A1_ENST00000370650.2_5'UTR|RP5-1148A21.3_ENST00000584934.1_RNA|PTP4A1_ENST00000578299.1_Missense_Mutation_p.M8I	NM_003463.3	NP_003454.1	Q93096	TP4A1_HUMAN	protein tyrosine phosphatase type IVA, member 1						cell cycle (GO:0007049)|multicellular organismal development (GO:0007275)|positive regulation of cell migration (GO:0030335)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			AATCTTCAATGAGTAAACATA	0.657																																					Pancreas(91;1019 1502 28028 38110 51645)												0																																										SO:0001623	5_prime_UTR_variant	7803			U48296	CCDS4965.1	6q12	2011-06-09			ENSG00000112245	ENSG00000112245		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PRLs"""	9634	protein-coding gene	gene with protein product		601585				9642300	Standard	NM_003463		Approved	PTPCAAX1, PRL-1	uc003pel.3	Q93096	OTTHUMG00000014949	ENST00000370651.3:c.-461G>A	6.37:g.64282609G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6C8|O00648|Q49A54	Missense_Mutation	SNP	NULL	p.M8I	ENST00000370651.3	37	c.24	CCDS4965.1	6																																																																																			PTP4A1	-	NULL		0.657	PTP4A1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	PTP4A1	HGNC	protein_coding	OTTHUMT00000041083.2	G			64282609	+1	no_errors	ENST00000578299	ensembl	human	putative	70_37	missense	SNP	1.000	A
PTPRG	5793	genome.wustl.edu	37	3	62267354	62267354	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:62267354C>T	ENST00000474889.1	+	27	4259	c.3882C>T	c.(3880-3882)atC>atT	p.I1294I	PTPRG-AS1_ENST00000490916.1_RNA|PTPRG_ENST00000295874.10_Silent_p.I1265I|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000474795.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1294	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		AACAAATTATCATCCATGACT	0.428																																																	0													154.0	139.0	144.0					3																	62267354		2203	4300	6503	SO:0001819	synonymous_variant	5793			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.3882C>T	3.37:g.62267354C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.I1294	ENST00000474889.1	37	c.3882	CCDS2895.1	3																																																																																			PTPRG	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.428	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1	C	NM_002841		62267354	+1	no_errors	ENST00000474889	ensembl	human	known	70_37	silent	SNP	1.000	T
PTPRO	5800	genome.wustl.edu	37	12	15637046	15637046	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:15637046G>C	ENST00000281171.4	+	2	544	c.214G>C	c.(214-216)Gag>Cag	p.E72Q	PTPRO_ENST00000543886.1_Missense_Mutation_p.E72Q|PTPRO_ENST00000348962.2_Missense_Mutation_p.E72Q	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	72	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTTCGAATTTGAGGAATTCAA	0.378																																																	0													98.0	97.0	97.0					12																	15637046		2203	4300	6503	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.214G>C	12.37:g.15637046G>C	ENSP00000281171:p.Glu72Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E72Q	ENST00000281171.4	37	c.214	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	15.28	2.786888	0.49997	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T	0.03889	3.78;3.77	5.48	5.48	0.80851	Fibronectin, type III (1);	0.000000	0.52532	D	0.000075	T	0.05868	0.0153	N	0.14661	0.345	0.80722	D	1	B;B;P	0.45044	0.029;0.017;0.849	B;B;P	0.45377	0.022;0.01;0.478	T	0.54390	-0.8301	10	0.33141	T	0.24	.	19.3636	0.94453	0.0:0.0:1.0:0.0	.	72;72;72	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	Q	72	ENSP00000281171:E72Q;ENSP00000343434:E72Q	ENSP00000281171:E72Q	E	+	1	0	PTPRO	15528313	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.376000	0.59556	2.573000	0.86826	0.655000	0.94253	GAG	PTPRO	-	superfamily_Fibronectin_type3		0.378	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	G			15637046	+1	no_errors	ENST00000281171	ensembl	human	known	70_37	missense	SNP	1.000	C
PTPRO	5800	genome.wustl.edu	37	12	15661681	15661681	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:15661681G>A	ENST00000281171.4	+	7	1774	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	PTPRO_ENST00000543886.1_Missense_Mutation_p.E482K|PTPRO_ENST00000348962.2_Missense_Mutation_p.E482K	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	482	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell morphogenesis (GO:0000902)|glomerular visceral epithelial cell differentiation (GO:0072112)|glomerulus development (GO:0032835)|lamellipodium assembly (GO:0030032)|monocyte chemotaxis (GO:0002548)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of glomerular filtration (GO:0003105)|negative regulation of neuron projection development (GO:0010977)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of glomerular filtration (GO:0003093)|slit diaphragm assembly (GO:0036060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	phosphatase activity (GO:0016791)|protein homodimerization activity (GO:0042803)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)|Wnt-protein binding (GO:0017147)	p.E482K(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCAGAGGCTTGAAAAGCAGTA	0.507																																																	1	Substitution - Missense(1)	skin(1)											59.0	59.0	59.0					12																	15661681		2203	4300	6503	SO:0001583	missense	5800			U20489	CCDS8674.1, CCDS8675.1, CCDS44837.1, CCDS53754.1	12p13-p12	2013-02-11			ENSG00000151490	ENSG00000151490		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9678	protein-coding gene	gene with protein product	"""osteoclastic transmembrane protein-tyrosine phosphatase"""	600579				7519601, 7665166, 21722858	Standard	NM_030667		Approved	PTPU2, GLEPP1, PTP-U2, PTP-oc, NPHS6	uc001rcv.2	Q16827	OTTHUMG00000168786	ENST00000281171.4:c.1444G>A	12.37:g.15661681G>A	ENSP00000281171:p.Glu482Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV39|Q13101|Q8IYG3|Q9UBF0|Q9UBT5	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E482K	ENST00000281171.4	37	c.1444	CCDS8675.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.532074	0.96446	.	.	ENSG00000151490	ENST00000281171;ENST00000543886;ENST00000348962	T;T;T	0.57595	0.39;0.39;0.39	5.37	5.37	0.77165	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.52532	D	0.000064	T	0.63780	0.2540	L	0.34521	1.04	0.80722	D	1	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.83275	0.973;0.984;0.996	T	0.57883	-0.7734	10	0.30078	T	0.28	.	19.3083	0.94173	0.0:0.0:1.0:0.0	.	482;482;482	Q16827-2;Q16827;Q8IYG3	.;PTPRO_HUMAN;.	K	482	ENSP00000281171:E482K;ENSP00000444173:E482K;ENSP00000343434:E482K	ENSP00000281171:E482K	E	+	1	0	PTPRO	15552948	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	8.973000	0.93428	2.797000	0.96272	0.609000	0.83330	GAA	PTPRO	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.507	PTPRO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRO	HGNC	protein_coding	OTTHUMT00000401079.1	G			15661681	+1	no_errors	ENST00000281171	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRU	10076	genome.wustl.edu	37	1	29647330	29647330	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:29647330C>T	ENST00000345512.3	+	27	3980	c.3851C>T	c.(3850-3852)tCc>tTc	p.S1284F	PTPRU_ENST00000428026.2_Missense_Mutation_p.S1271F|PTPRU_ENST00000356870.3_Missense_Mutation_p.S1280F|PTPRU_ENST00000323874.8_Missense_Mutation_p.S1280F|PTPRU_ENST00000373779.3_Missense_Mutation_p.S1274F|PTPRU_ENST00000460170.2_Missense_Mutation_p.S1280F	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1284	Tyrosine-protein phosphatase 2. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CAGTCCAACTCCGCCTGGGTG	0.632																																																	0													65.0	58.0	60.0					1																	29647330		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3851C>T	1.37:g.29647330C>T	ENSP00000334941:p.Ser1284Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.S1284F	ENST00000345512.3	37	c.3851	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	21.5	4.160553	0.78226	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.14766	2.48;2.48;2.48;2.48;2.48;2.48	4.39	4.39	0.52855	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.069372	0.64402	D	0.000013	T	0.37865	0.1019	M	0.75615	2.305	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.999;0.999;0.999	T	0.14559	-1.0468	9	.	.	.	.	16.4924	0.84205	0.0:1.0:0.0:0.0	.	1271;1280;1274;1280;1284	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	F	1284;1274;1280;1280;1271;1280	ENSP00000334941:S1284F;ENSP00000362884:S1274F;ENSP00000349333:S1280F;ENSP00000314987:S1280F;ENSP00000392332:S1271F;ENSP00000432906:S1280F	.	S	+	2	0	PTPRU	29519917	1.000000	0.71417	0.963000	0.40424	0.953000	0.61014	4.493000	0.60341	2.435000	0.82474	0.462000	0.41574	TCC	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.632	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	C			29647330	+1	no_errors	ENST00000345512	ensembl	human	known	70_37	missense	SNP	0.999	T
PURG	29942	genome.wustl.edu	37	8	30890108	30890108	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:30890108C>G	ENST00000475541.1	-	1	1123	c.191G>C	c.(190-192)cGa>cCa	p.R64P	PURG_ENST00000339382.2_Missense_Mutation_p.R64P|WRN_ENST00000298139.5_5'Flank	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	64						nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GATGTCCACTCGTTTGGAGGC	0.607																																																	0													42.0	44.0	43.0					8																	30890108		2203	4300	6503	SO:0001583	missense	29942			AF195513	CCDS34878.1, CCDS6081.1	8p11	2004-02-09			ENSG00000172733	ENSG00000172733			17930	protein-coding gene	gene with protein product						12034829	Standard	NM_013357		Approved	PURG-A, PURG-B	uc003xin.3	Q9UJV8	OTTHUMG00000157357	ENST00000475541.1:c.191G>C	8.37:g.30890108C>G	ENSP00000418721:p.Arg64Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TE64	Missense_Mutation	SNP	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd	p.R64P	ENST00000475541.1	37	c.191	CCDS6081.1	8	.	.	.	.	.	.	.	.	.	.	C	19.02	3.745429	0.69418	.	.	ENSG00000172733	ENST00000339382;ENST00000475541	T;T	0.33438	1.41;1.41	4.75	3.8	0.43715	.	0.000000	0.64402	D	0.000003	T	0.44891	0.1315	M	0.72479	2.2	0.51482	D	0.999927	P;D	0.57571	0.948;0.98	P;P	0.53490	0.727;0.695	T	0.46233	-0.9206	10	0.44086	T	0.13	-0.1185	13.9644	0.64200	0.0:0.847:0.153:0.0	.	64;64	Q9UJV8;Q9UJV8-2	PURG_HUMAN;.	P	64	ENSP00000345168:R64P;ENSP00000418721:R64P	ENSP00000345168:R64P	R	-	2	0	PURG	31009650	1.000000	0.71417	0.998000	0.56505	0.951000	0.60555	7.462000	0.80851	2.173000	0.68751	0.313000	0.20887	CGA	PURG	-	pfam_PUR_DNA_RNA-bd,smart_PUR_DNA_RNA-bd		0.607	PURG-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PURG	HGNC	protein_coding	OTTHUMT00000348565.1	C	NM_013357		30890108	-1	no_errors	ENST00000475541	ensembl	human	known	70_37	missense	SNP	0.990	G
PZP	5858	genome.wustl.edu	37	12	9322060	9322060	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:9322060G>C	ENST00000261336.2	-	16	1995	c.1967C>G	c.(1966-1968)tCa>tGa	p.S656*	PZP_ENST00000539983.1_5'Flank|PZP_ENST00000381997.2_Nonsense_Mutation_p.S525*	NM_002864.2	NP_002855.2	P20742	PZP_HUMAN	pregnancy-zone protein	656					female pregnancy (GO:0007565)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TTCATTACTTGATAAGGGAAC	0.383																																					Melanoma(125;1402 1695 4685 34487 38571)												0													85.0	79.0	81.0					12																	9322060		2203	4300	6503	SO:0001587	stop_gained	5858			X54380, M24416, X51541	CCDS8600.1	12p13-p12.2	2008-02-01			ENSG00000126838	ENSG00000126838			9750	protein-coding gene	gene with protein product		176420					Standard	NM_002864		Approved	CPAMD6	uc001qvl.3	P20742	OTTHUMG00000154915	ENST00000261336.2:c.1967C>G	12.37:g.9322060G>C	ENSP00000261336:p.Ser656*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND27|Q15273|Q2NKL2|Q7M4N7	Nonsense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.S656*	ENST00000261336.2	37	c.1967	CCDS8600.1	12	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576794	0.65878	.	.	ENSG00000126838	ENST00000261336;ENST00000381997	.	.	.	3.34	-0.217	0.13149	.	2.551900	0.02108	U	0.054534	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	.	2.5138	0.04663	0.2536:0.0:0.3376:0.4088	.	.	.	.	X	656;525	.	ENSP00000261336:S656X	S	-	2	0	PZP	9213327	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.283000	0.08433	0.164000	0.19529	0.563000	0.77884	TCA	PZP	-	NULL		0.383	PZP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PZP	HGNC	protein_coding	OTTHUMT00000337624.1	G	NM_002864		9322060	-1	no_errors	ENST00000261336	ensembl	human	known	70_37	nonsense	SNP	0.000	C
QRSL1	55278	genome.wustl.edu	37	6	107110891	107110891	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:107110891G>A	ENST00000369046.4	+	10	1301	c.1197G>A	c.(1195-1197)gtG>gtA	p.V399V		NM_018292.4	NP_060762.3			glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1											endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		CACAGAAAGTGAGACGCCTCA	0.348																																					NSCLC(192;2127 2142 11668 26277 49545)												0													101.0	93.0	96.0					6																	107110891		2203	4300	6503	SO:0001819	synonymous_variant	55278			AK001851	CCDS5057.1	6q21	2014-08-04			ENSG00000130348	ENSG00000130348			21020	protein-coding gene	gene with protein product	"""glutamyl-tRNA(Gln) amidotransferase, subunit A"""					11230166, 19805282	Standard	NM_018292		Approved	GatA, FLJ10989, FLJ12189, DKFZP564C1278, FLJ13447	uc003prm.3	Q9H0R6	OTTHUMG00000015301	ENST00000369046.4:c.1197G>A	6.37:g.107110891G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA	p.V399	ENST00000369046.4	37	c.1197	CCDS5057.1	6																																																																																			QRSL1	-	pfam_Amidase,superfamily_Amidase_dom,tigrfam_GatA		0.348	QRSL1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	QRSL1	HGNC	protein_coding	OTTHUMT00000041667.1	G	NM_018292		107110891	+1	no_errors	ENST00000369046	ensembl	human	known	70_37	silent	SNP	0.993	A
RAB11FIP1	80223	genome.wustl.edu	37	8	37730614	37730614	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:37730614G>A	ENST00000330843.4	-	4	1718	c.1706C>T	c.(1705-1707)tCt>tTt	p.S569F	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	569	Ser-rich.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCAGAGCTAGAAGGAAGAGG	0.537																																																	0													66.0	59.0	61.0					8																	37730614		2203	4300	6503	SO:0001583	missense	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.1706C>T	8.37:g.37730614G>A	ENSP00000331342:p.Ser569Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Missense_Mutation	SNP	pfam_Rab-bd_FIP-RBD,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.S569F	ENST00000330843.4	37	c.1706	CCDS34882.1	8	.	.	.	.	.	.	.	.	.	.	G	14.13	2.442384	0.43326	.	.	ENSG00000156675	ENST00000330843	T	0.15017	2.46	5.95	5.05	0.67936	.	0.389621	0.22135	N	0.064129	T	0.20495	0.0493	L	0.32530	0.975	0.29308	N	0.868226	D	0.60575	0.988	P	0.54401	0.751	T	0.08086	-1.0739	10	0.66056	D	0.02	-2.279	6.5835	0.22609	0.1136:0.1804:0.7061:0.0	.	569	Q6WKZ4	RFIP1_HUMAN	F	569	ENSP00000331342:S569F	ENSP00000331342:S569F	S	-	2	0	RAB11FIP1	37849772	0.040000	0.19996	0.002000	0.10522	0.013000	0.08279	1.791000	0.38744	1.464000	0.47987	0.655000	0.94253	TCT	RAB11FIP1	-	NULL		0.537	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	RAB11FIP1	HGNC	protein_coding	OTTHUMT00000376816.1	G	NM_025151		37730614	-1	no_errors	ENST00000330843	ensembl	human	known	70_37	missense	SNP	0.007	A
RAB12	201475	genome.wustl.edu	37	18	8638222	8638222	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:8638222G>C	ENST00000329286.6	+	6	980	c.697G>C	c.(697-699)Gaa>Caa	p.E233Q	RP11-661O13.1_ENST00000580267.1_RNA	NM_001025300.2	NP_001020471.2	Q6IQ22	RAB12_HUMAN	RAB12, member RAS oncogene family	233					autophagy (GO:0006914)|cellular protein catabolic process (GO:0044257)|endosome to lysosome transport (GO:0008333)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|lysosome (GO:0005764)|recycling endosome membrane (GO:0055038)|secretory granule (GO:0030141)	GDP binding (GO:0019003)|GTP binding (GO:0005525)			breast(1)|lung(4)|prostate(1)|urinary_tract(1)	7						GATACCGCCAGAACTGCCTCC	0.413																																																	0													100.0	98.0	99.0					18																	8638222		1961	4150	6111	SO:0001583	missense	201475				CCDS42410.1	18p11.22	2006-12-18				ENSG00000206418		"""RAB, member RAS oncogene"""	31332	protein-coding gene	gene with protein product							Standard	NM_001025300		Approved		uc002knp.3	Q6IQ22		ENST00000329286.6:c.697G>C	18.37:g.8638222G>C	ENSP00000331748:p.Glu233Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEF5|Q4KMQ3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E233Q	ENST00000329286.6	37	c.697	CCDS42410.1	18	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655070	0.47467	.	.	ENSG00000206418	ENST00000329286	T	0.62639	0.01	5.87	5.87	0.94306	.	0.138948	0.46758	U	0.000272	T	0.66809	0.2827	N	0.19112	0.55	0.80722	D	1	D	0.69078	0.997	D	0.75484	0.986	T	0.59182	-0.7502	10	0.12103	T	0.63	.	20.2045	0.98273	0.0:0.0:1.0:0.0	.	233	Q6IQ22	RAB12_HUMAN	Q	233	ENSP00000331748:E233Q	ENSP00000331748:E233Q	E	+	1	0	RAB12	8628222	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.119000	0.94362	2.780000	0.95670	0.650000	0.86243	GAA	RAB12	-	smart_Ran_GTPase		0.413	RAB12-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	RAB12	HGNC	protein_coding	OTTHUMT00000444080.1	G	XM_113967		8638222	+1	no_errors	ENST00000329286	ensembl	human	known	70_37	missense	SNP	1.000	C
RAB20	55647	genome.wustl.edu	37	13	111176396	111176396	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:111176396G>C	ENST00000267328.3	-	2	534	c.321C>G	c.(319-321)ctC>ctG	p.L107L		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	107					phagosome acidification (GO:0090383)|phagosome-lysosome fusion (GO:0090385)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)	GTP binding (GO:0005525)			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CGATGGCAAAGAGGCAGTCTT	0.607																																																	0													63.0	59.0	60.0					13																	111176396		2203	4300	6503	SO:0001819	synonymous_variant	55647			AK000436	CCDS9512.1	13q34	2008-07-18			ENSG00000139832	ENSG00000139832		"""RAB, member RAS oncogene"""	18260	protein-coding gene	gene with protein product						11697911	Standard	NM_017817		Approved	FLJ20429	uc001vqy.3	Q9NX57	OTTHUMG00000017343	ENST00000267328.3:c.321C>G	13.37:g.111176396G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9X5|Q9NX49	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.L107	ENST00000267328.3	37	c.321	CCDS9512.1	13																																																																																			RAB20	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,tigrfam_Small_GTP-bd_dom		0.607	RAB20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB20	HGNC	protein_coding	OTTHUMT00000045760.2	G	NM_017817		111176396	-1	no_errors	ENST00000267328	ensembl	human	known	70_37	silent	SNP	0.997	C
RAB3GAP2	25782	genome.wustl.edu	37	1	220340971	220340971	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:220340971G>A	ENST00000358951.2	-	25	2969	c.2853C>T	c.(2851-2853)ttC>ttT	p.F951F		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	951					establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|intracellular protein transport (GO:0006886)|positive regulation of catalytic activity (GO:0043085)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of GTPase activity (GO:0043087)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme activator activity (GO:0008047)|enzyme regulator activity (GO:0030234)|GTPase activator activity (GO:0005096)|protein heterodimerization activity (GO:0046982)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTCAGGGCTGAAGTCCTGTT	0.393																																																	0													173.0	180.0	178.0					1																	220340971		2203	4300	6503	SO:0001819	synonymous_variant	25782			AB020646	CCDS31028.1	1q41	2014-03-03			ENSG00000118873	ENSG00000118873			17168	protein-coding gene	gene with protein product		609275				15696165, 16532399, 24482476	Standard	NM_012414		Approved	RAB3-GAP150, KIAA0839, DKFZP434D245, SPG69	uc010puk.1	Q9H2M9	OTTHUMG00000037139	ENST00000358951.2:c.2853C>T	1.37:g.220340971G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V0|O75872|Q9HAB0|Q9UFJ7|Q9UQ15	Silent	SNP	superfamily_WD40_repeat_dom	p.F951	ENST00000358951.2	37	c.2853	CCDS31028.1	1																																																																																			RAB3GAP2	-	NULL		0.393	RAB3GAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB3GAP2	HGNC	protein_coding	OTTHUMT00000090205.2	G	NM_012414		220340971	-1	no_errors	ENST00000358951	ensembl	human	known	70_37	silent	SNP	0.868	A
RABGAP1	23637	genome.wustl.edu	37	9	125748668	125748668	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:125748668C>T	ENST00000373647.4	+	4	694	c.560C>T	c.(559-561)tCa>tTa	p.S187L		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	187	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				cell cycle (GO:0007049)|positive regulation of GTPase activity (GO:0043547)|regulation of GTP catabolic process (GO:0033124)	centrosome (GO:0005813)|cytosol (GO:0005829)|microtubule associated complex (GO:0005875)	DNA binding (GO:0003677)|GTPase activator activity (GO:0005096)|Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)|tubulin binding (GO:0015631)			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GTTACCCTTTCAGTGCCGAAT	0.443																																																	0													186.0	179.0	182.0					9																	125748668		2203	4300	6503	SO:0001583	missense	23637			AJ011679	CCDS6848.2	9q34.11	2013-07-09			ENSG00000011454	ENSG00000011454			17155	protein-coding gene	gene with protein product	"""rab6 GTPase activating protein (GAP and centrosome-associated)"", ""TBC1 domain family, member 11"""	615882				10202141	Standard	NM_012197		Approved	GAPCenA, TBC1D11	uc011lzh.2	Q9Y3P9	OTTHUMG00000020633	ENST00000373647.4:c.560C>T	9.37:g.125748668C>T	ENSP00000362751:p.Ser187Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A6L2|Q05CW2|Q6ZMY1|Q9HA28|Q9P0E2|Q9UG67	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,pfam_Kinesin-like,pfam_PTyr_interaction_dom,superfamily_Rab-GTPase-TBC_dom,smart_PTyr_interaction_dom,smart_Rab-GTPase-TBC_dom,pfscan_PTyr_interaction_dom,pfscan_Rab-GTPase-TBC_dom	p.S187L	ENST00000373647.4	37	c.560	CCDS6848.2	9	.	.	.	.	.	.	.	.	.	.	C	15.40	2.821011	0.50633	.	.	ENSG00000011454	ENST00000373647;ENST00000317419;ENST00000426918	T	0.64085	-0.08	5.3	5.3	0.74995	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.149229	0.46758	D	0.000270	T	0.73976	0.3656	L	0.60455	1.87	0.80722	D	1	P;D	0.61080	0.619;0.989	B;D	0.72625	0.268;0.978	T	0.67650	-0.5616	10	0.11794	T	0.64	-7.5844	17.9388	0.89021	0.0:1.0:0.0:0.0	.	187;187	Q9Y3P9;Q9Y3P9-4	RBGP1_HUMAN;.	L	187;187;18	ENSP00000362751:S187L	ENSP00000324973:S187L	S	+	2	0	RABGAP1	124788489	1.000000	0.71417	0.195000	0.23364	0.515000	0.34225	5.637000	0.67854	2.497000	0.84241	0.455000	0.32223	TCA	RABGAP1	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.443	RABGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RABGAP1	HGNC	protein_coding	OTTHUMT00000053976.3	C	NM_012197		125748668	+1	no_errors	ENST00000373647	ensembl	human	known	70_37	missense	SNP	0.991	T
RABGAP1L	9910	genome.wustl.edu	37	1	174951985	174951985	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:174951985G>C	ENST00000367688.3	+	5	533	c.354G>C	c.(352-354)ttG>ttC	p.L118F	RABGAP1L_ENST00000367687.1_Missense_Mutation_p.L242F|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.L173F|RABGAP1L_ENST00000489615.1_Missense_Mutation_p.L235F|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.L223F|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.L243F	NM_001243764.1	NP_001230693.1	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	118										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTTCGCAGTTGAGTACCAGGC	0.398																																																	0																																										SO:0001583	missense	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000367688.3:c.354G>C	1.37:g.174951985G>C	ENSP00000356661:p.Leu118Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZAA4	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.L243F	ENST00000367688.3	37	c.729	CCDS55662.1	1	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613771	0.66672	.	.	ENSG00000152061	ENST00000325589;ENST00000367687;ENST00000347255;ENST00000489615;ENST00000465412;ENST00000392064;ENST00000367688	T;T;T	0.18960	2.18;2.43;2.38	6.07	-2.61	0.06171	.	.	.	.	.	T	0.45915	0.1366	M	0.82517	2.595	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.999;1.0	D;D;D;D;D;D	0.97110	0.999;0.997;1.0;0.995;0.991;1.0	T	0.56577	-0.7956	9	0.66056	D	0.02	.	14.4831	0.67597	0.229:0.0:0.771:0.0	.	118;173;235;242;243;121	B7ZAP0;F5H8L0;Q5R372-8;Q5R372-6;Q5R372-5;Q9Y6Y7	.;.;.;.;.;.	F	223;242;243;235;173;173;118	ENSP00000318603:L223F;ENSP00000356660:L242F;ENSP00000281844:L243F	ENSP00000318603:L223F	L	+	3	2	RABGAP1L	173218608	1.000000	0.71417	0.985000	0.45067	0.646000	0.38490	1.038000	0.30254	-0.360000	0.08138	-0.345000	0.07892	TTG	RABGAP1L	-	NULL		0.398	RABGAP1L-015	PUTATIVE	basic|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084573.2	G	NM_001243765		174951985	+1	no_errors	ENST00000347255	ensembl	human	known	70_37	missense	SNP	0.999	C
RABL6	55684	genome.wustl.edu	37	9	139735063	139735063	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:139735063C>T	ENST00000311502.7	+	0	2515				RABL6_ENST00000371663.4_3'UTR|RABL6_ENST00000357466.2_Silent_p.R402R|RABL6_ENST00000371675.3_3'UTR			Q3YEC7	RABL6_HUMAN	RAB, member RAS oncogene family-like 6						small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GCCTTTGCCGCTGCCCCGTGG	0.706																																																	0													4.0	6.0	5.0					9																	139735063		664	1539	2203	SO:0001624	3_prime_UTR_variant	55684			AK094382	CCDS48058.1, CCDS55352.1, CCDS55353.1	9q34.3	2012-06-28	2012-06-28	2012-06-28	ENSG00000196642	ENSG00000196642			24703	protein-coding gene	gene with protein product	"""Rab-like protein 1"", ""partner of ARF"""	610615	"""chromosome 9 open reading frame 86"""	C9orf86		14702039, 16582619, 17962191, 19433581	Standard	NM_024718		Approved	FLJ10101, FLJ13045, pp8875, bA216L13.9, Parf, RBEL1	uc004cjj.1	Q3YEC7	OTTHUMG00000020947	ENST00000311502.7:c.*89C>T	9.37:g.139735063C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8QVZ7|A8QVZ8|C6K8I4|C6K8I5|Q4F968|Q5T5R7|Q8IWK1|Q8TCL4|Q8WU94|Q96SR8|Q9BU21|Q9H935	Silent	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Rab_type,prints_Small_GTPase	p.R402	ENST00000311502.7	37	c.1206	CCDS48058.1	9																																																																																			RABL6	-	NULL		0.706	RABL6-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	RABL6	HGNC	protein_coding	OTTHUMT00000055141.4	C	NM_024718		139735063	+1	no_errors	ENST00000357466	ensembl	human	known	70_37	silent	SNP	0.000	T
RACGAP1	29127	genome.wustl.edu	37	12	50398061	50398061	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:50398061G>T	ENST00000427314.2	-	7	675	c.452C>A	c.(451-453)tCc>tAc	p.S151Y	RACGAP1_ENST00000547061.1_5'Flank|RACGAP1_ENST00000551016.1_Missense_Mutation_p.S151Y|RACGAP1_ENST00000434422.1_Missense_Mutation_p.S151Y|RACGAP1_ENST00000454520.2_Missense_Mutation_p.S151Y|RACGAP1_ENST00000312377.5_Missense_Mutation_p.S151Y|RACGAP1_ENST00000547905.1_Missense_Mutation_p.S151Y	NM_013277.3	NP_037409.2			Rac GTPase activating protein 1											cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						TGATAAAATGGAACCAGATTC	0.368																																																	0													148.0	134.0	139.0					12																	50398061		2203	4300	6503	SO:0001583	missense	29127				CCDS8795.1	12q13	2004-05-17				ENSG00000161800			9804	protein-coding gene	gene with protein product		604980				9497316	Standard	NM_013277		Approved	MgcRacGAP	uc001rvs.2	Q9H0H5		ENST00000427314.2:c.452C>A	12.37:g.50398061G>T	ENSP00000404190:p.Ser151Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Rho_GTPase_activation_prot,superfamily_Regulat_G_prot_signal_superfam,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom	p.S151Y	ENST00000427314.2	37	c.452	CCDS8795.1	12	.	.	.	.	.	.	.	.	.	.	G	19.86	3.906465	0.72868	.	.	ENSG00000161800	ENST00000427314;ENST00000312377;ENST00000434422;ENST00000454520;ENST00000551016;ENST00000547905;ENST00000552310;ENST00000550149;ENST00000546786;ENST00000546595;ENST00000551145;ENST00000548824;ENST00000548644;ENST00000546723	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-1.42;-0.54;-0.54;-1.42;-1.42;-1.42;-1.42;-1.3	6.11	6.11	0.99139	.	0.045388	0.85682	D	0.000000	D	0.83862	0.5346	M	0.82823	2.61	0.80722	D	1	P	0.49961	0.93	B	0.40982	0.345	D	0.85845	0.1400	10	0.56958	D	0.05	-15.9685	20.7342	0.99715	0.0:0.0:1.0:0.0	.	151	Q9H0H5	RGAP1_HUMAN	Y	151;151;151;151;151;151;151;77;77;93;93;151;163;151	ENSP00000404190:S151Y;ENSP00000309871:S151Y;ENSP00000413241:S151Y;ENSP00000404808:S151Y;ENSP00000449374:S151Y;ENSP00000449370:S151Y;ENSP00000448697:S151Y;ENSP00000446642:S77Y;ENSP00000447429:S77Y;ENSP00000449963:S93Y;ENSP00000450064:S93Y;ENSP00000449170:S151Y;ENSP00000449620:S163Y;ENSP00000449669:S151Y	ENSP00000309871:S151Y	S	-	2	0	RACGAP1	48684328	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.476000	0.97823	2.906000	0.99361	0.655000	0.94253	TCC	RACGAP1	-	NULL		0.368	RACGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RACGAP1	HGNC	protein_coding	OTTHUMT00000405997.1	G	NM_013277		50398061	-1	no_errors	ENST00000312377	ensembl	human	known	70_37	missense	SNP	1.000	T
RAD23B	5887	genome.wustl.edu	37	9	110068756	110068756	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:110068756C>T	ENST00000358015.3	+	4	676	c.325C>T	c.(325-327)Cag>Tag	p.Q109*	RAD23B_ENST00000416373.2_Nonsense_Mutation_p.Q37*	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	109					DNA repair (GO:0006281)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage recognition (GO:0000715)|nucleotide-excision repair, DNA damage removal (GO:0000718)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|XPC complex (GO:0071942)	damaged DNA binding (GO:0003684)|polyubiquitin binding (GO:0031593)|single-stranded DNA binding (GO:0003697)			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AACTGTGGCTCAGGCTCCAAC	0.577								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													148.0	117.0	127.0					9																	110068756		2203	4300	6503	SO:0001587	stop_gained	5887				CCDS6769.1, CCDS59138.1	9q31.2	2008-07-21	2001-11-28		ENSG00000119318	ENSG00000119318			9813	protein-coding gene	gene with protein product	"""XP-C repair complementing protein"", ""XP-C repair complementing complex 58 kDa"""	600062	"""RAD23 (S. cerevisiae) homolog B"""			7851894, 8168482	Standard	NM_002874		Approved	HHR23B, P58, HR23B	uc004bde.3	P54727	OTTHUMG00000020446	ENST00000358015.3:c.325C>T	9.37:g.110068756C>T	ENSP00000350708:p.Gln109*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWK8|G5E9P0|Q7Z5K8|Q8WUB0	Nonsense_Mutation	SNP	pfam_XPC-bd,pfam_Ubiquitin,pfam_UBA/transl_elong_EF1B_N,pfam_SUMO,superfamily_XPC-bd,superfamily_UBA-like,smart_Ubiquitin,smart_UBA/transl_elong_EF1B_N_euk,smart_STI1_HS-bd,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup,prints_Rad23,tigrfam_Rad23	p.Q109*	ENST00000358015.3	37	c.325	CCDS6769.1	9	.	.	.	.	.	.	.	.	.	.	C	37	5.981512	0.97168	.	.	ENSG00000119318	ENST00000419616;ENST00000358015;ENST00000374678;ENST00000416373	.	.	.	5.44	5.44	0.79542	.	0.372260	0.30483	N	0.009530	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-5.2699	19.6294	0.95694	0.0:1.0:0.0:0.0	.	.	.	.	X	109;109;37;37	.	ENSP00000350708:Q109X	Q	+	1	0	RAD23B	109108577	1.000000	0.71417	0.980000	0.43619	0.758000	0.43043	3.050000	0.49877	2.707000	0.92482	0.655000	0.94253	CAG	RAD23B	-	tigrfam_Rad23		0.577	RAD23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAD23B	HGNC	protein_coding	OTTHUMT00000053548.1	C	NM_002874		110068756	+1	no_errors	ENST00000358015	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RAD51C	5889	genome.wustl.edu	37	17	56809919	56809919	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:56809919G>A	ENST00000337432.4	+	8	1097				RAD51C_ENST00000583539.1_Silent_p.*347*	NM_058216.1	NP_478123.1	O43502	RA51C_HUMAN	RAD51 paralog C						blood coagulation (GO:0007596)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|female meiosis sister chromatid cohesion (GO:0007066)|male meiosis I (GO:0007141)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|reciprocal meiotic recombination (GO:0007131)|sister chromatid cohesion (GO:0007062)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Rad51B-Rad51C-Rad51D-XRCC2 complex (GO:0033063)|Rad51C-XRCC3 complex (GO:0033065)|replication fork (GO:0005657)	ATP binding (GO:0005524)|crossover junction endodeoxyribonuclease activity (GO:0008821)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTATTATTTGATTAGAGTGG	0.363								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2																																								0													139.0	127.0	131.0					17																	56809919		2203	4300	6503	SO:0001627	intron_variant	5889	Familial Cancer Database	BRCAX	AF029670	CCDS11611.1, CCDS45745.1	17q25.1	2014-09-17	2013-07-02		ENSG00000108384	ENSG00000108384		"""Fanconi anemia, complementation groups"""	9820	protein-coding gene	gene with protein product		602774	"""RAD51 (S. cerevisiae) homolog C"", ""RAD51 homolog C (S. cerevisiae)"""			9469824, 22167183	Standard	NM_058216		Approved	RAD51L2, FANCO	uc002iwu.3	O43502	OTTHUMG00000141292	ENST00000337432.4:c.1026+14G>A	17.37:g.56809919G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43503|Q3B783	Silent	SNP	pfam_DNA_recomb/repair_Rad51_C,pfam_Circ_KaiC/RadA,superfamily_DNA_repair_Rad51/TF_NusA_a-hlx,pirsf_DNA_recomb/repair_RecA-like,pfscan_DNA_recomb_RecA/RadB_ATP-bd	p.*347	ENST00000337432.4	37	c.1040	CCDS11611.1	17																																																																																			RAD51C	-	NULL		0.363	RAD51C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RAD51C	HGNC	protein_coding	OTTHUMT00000280540.2	G	NM_058216		56809919	+1	no_errors	ENST00000583539	ensembl	human	putative	70_37	silent	SNP	0.183	A
RAD9B	144715	genome.wustl.edu	37	12	110959986	110959986	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:110959986G>A	ENST00000409778.3	+	8	712	c.688G>A	c.(688-690)Gat>Aat	p.D230N	RAD9B_ENST00000409425.1_Missense_Mutation_p.D227N|RAD9B_ENST00000392672.4_Missense_Mutation_p.D299N|RAD9B_ENST00000409300.1_Missense_Mutation_p.D299N|RAD9B_ENST00000409246.1_Missense_Mutation_p.D227N			Q6WBX8	RAD9B_HUMAN	RAD9 homolog B (S. pombe)	296					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)	checkpoint clamp complex (GO:0030896)|nucleoplasm (GO:0005654)				endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	7						CCTCAGGTCAGATCTGATTGA	0.358																																																	0													23.0	23.0	23.0					12																	110959986		2203	4297	6500	SO:0001583	missense	144715				CCDS9148.2, CCDS66469.1, CCDS73526.1, CCDS73527.1	12q24.13	2008-12-15	2008-12-15		ENSG00000151164	ENSG00000151164			21700	protein-coding gene	gene with protein product		608368					Standard	NM_152442		Approved	FLJ40346	uc001trf.4	Q6WBX8	OTTHUMG00000152952	ENST00000409778.3:c.688G>A	12.37:g.110959986G>A	ENSP00000386697:p.Asp230Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5K0|Q6NVJ1|Q6ZVT7|Q8N7T9|Q96LI8	Missense_Mutation	SNP	pfam_Rad9/Ddc1,pirsf_Rad9	p.D299N	ENST00000409778.3	37	c.895		12	.	.	.	.	.	.	.	.	.	.	G	11.40	1.626729	0.28978	.	.	ENSG00000151164	ENST00000409246;ENST00000392672;ENST00000409300;ENST00000409425;ENST00000409778	T;T;T;T;T	0.22336	1.96;2.25;2.28;1.96;2.19	5.33	2.22	0.28083	.	0.542931	0.16309	N	0.220078	T	0.16214	0.0390	L	0.29908	0.895	0.24084	N	0.995938	P;B;B	0.40970	0.734;0.006;0.001	B;B;B	0.40329	0.326;0.002;0.0	T	0.11397	-1.0589	10	0.23302	T	0.38	-1.093	12.7805	0.57474	0.0:0.4768:0.5232:0.0	.	230;299;296	B4DYM6;B4DX60;Q6WBX8	.;.;RAD9B_HUMAN	N	227;299;299;227;230	ENSP00000387329:D227N;ENSP00000376440:D299N;ENSP00000386434:D299N;ENSP00000386629:D227N;ENSP00000386697:D230N	ENSP00000376440:D299N	D	+	1	0	RAD9B	109444369	0.995000	0.38212	0.938000	0.37757	0.706000	0.40770	0.801000	0.27055	0.578000	0.29487	0.561000	0.74099	GAT	RAD9B	-	pirsf_Rad9		0.358	RAD9B-009	NOVEL	basic|exp_conf	protein_coding	RAD9B	HGNC	protein_coding	OTTHUMT00000404634.1	G	NM_152442		110959986	+1	no_errors	ENST00000392672	ensembl	human	known	70_37	missense	SNP	0.956	A
RAI14	26064	genome.wustl.edu	37	5	34823462	34823462	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:34823462G>C	ENST00000265109.3	+	15	1802	c.1515G>C	c.(1513-1515)caG>caC	p.Q505H	RAI14_ENST00000512629.1_Missense_Mutation_p.Q476H|RAI14_ENST00000506376.1_Missense_Mutation_p.Q497H|RAI14_ENST00000515799.1_Missense_Mutation_p.Q508H|RAI14_ENST00000397449.1_Missense_Mutation_p.Q498H|RAI14_ENST00000428746.2_Missense_Mutation_p.Q505H|RAI14_ENST00000503673.1_Missense_Mutation_p.Q505H	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	505						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TGCAGAAGCAGATGAAACTCG	0.438																																																	0													61.0	60.0	60.0					5																	34823462		2203	4300	6503	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1515G>C	5.37:g.34823462G>C	ENSP00000265109:p.Gln505His	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.Q508H	ENST00000265109.3	37	c.1524	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	G	15.20	2.764231	0.49574	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.18174	2.23;2.23;2.23;2.23;2.23;2.23;2.23	5.64	2.87	0.33458	.	.	.	.	.	T	0.26593	0.0650	L	0.29908	0.895	0.34805	D	0.737083	D;D;D;D	0.76494	0.999;0.998;0.999;0.998	D;D;D;D	0.85130	0.997;0.993;0.979;0.993	T	0.27706	-1.0066	9	0.56958	D	0.05	-12.9657	9.3677	0.38234	0.3384:0.0:0.6616:0.0	.	497;476;508;505	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	H	505;476;505;505;508;497;498	ENSP00000265109:Q505H;ENSP00000422377:Q476H;ENSP00000388725:Q505H;ENSP00000422942:Q505H;ENSP00000427123:Q508H;ENSP00000423854:Q497H;ENSP00000380591:Q498H	ENSP00000265109:Q505H	Q	+	3	2	RAI14	34859219	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	1.074000	0.30703	0.749000	0.32854	0.555000	0.69702	CAG	RAI14	-	NULL		0.438	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	G	NM_015577		34823462	+1	no_errors	ENST00000515799	ensembl	human	known	70_37	missense	SNP	1.000	C
RAI14	26064	genome.wustl.edu	37	5	34823849	34823849	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:34823849G>A	ENST00000265109.3	+	15	2189	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	RAI14_ENST00000512629.1_Missense_Mutation_p.M605I|RAI14_ENST00000506376.1_Missense_Mutation_p.M626I|RAI14_ENST00000515799.1_Missense_Mutation_p.M637I|RAI14_ENST00000397449.1_Missense_Mutation_p.M627I|RAI14_ENST00000428746.2_Missense_Mutation_p.M634I|RAI14_ENST00000503673.1_Missense_Mutation_p.M634I	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	634						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AAGAAGCCATGAATAGGATGA	0.433																																																	0													76.0	80.0	78.0					5																	34823849		2203	4300	6503	SO:0001583	missense	26064			AB037755	CCDS34142.1, CCDS54837.1, CCDS54838.1, CCDS54839.1	5p13.3-p13.2	2013-01-10			ENSG00000039560	ENSG00000039560		"""Ankyrin repeat domain containing"""	14873	protein-coding gene	gene with protein product	"""novel retinal pigment epithelial"""	606586				11042181	Standard	NM_015577		Approved	NORPEG, KIAA1334, RAI13, DKFZp564G013	uc011coj.2	Q9P0K7	OTTHUMG00000162019	ENST00000265109.3:c.1902G>A	5.37:g.34823849G>A	ENSP00000265109:p.Met634Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PED3|Q6V1W9|Q7Z5I4|Q7Z733|Q9P2L2|Q9Y3T5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_t-SNARE,superfamily_UBA-like,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.M637I	ENST00000265109.3	37	c.1911	CCDS34142.1	5	.	.	.	.	.	.	.	.	.	.	G	18.74	3.689489	0.68271	.	.	ENSG00000039560	ENST00000265109;ENST00000512629;ENST00000428746;ENST00000503673;ENST00000515799;ENST00000506376;ENST00000397449	T;T;T;T;T;T;T	0.36157	1.28;1.27;1.28;1.28;1.31;1.36;1.34	5.68	5.68	0.88126	.	.	.	.	.	T	0.42832	0.1220	L	0.32530	0.975	0.46028	D	0.998823	P;P;D;P	0.53462	0.885;0.915;0.96;0.915	B;B;P;B	0.51615	0.392;0.395;0.675;0.395	T	0.12192	-1.0557	9	0.41790	T	0.15	-22.8105	19.7964	0.96487	0.0:0.0:1.0:0.0	.	626;605;637;634	Q9P0K7-3;E9PED3;Q9P0K7-2;Q9P0K7	.;.;.;RAI14_HUMAN	I	634;605;634;634;637;626;627	ENSP00000265109:M634I;ENSP00000422377:M605I;ENSP00000388725:M634I;ENSP00000422942:M634I;ENSP00000427123:M637I;ENSP00000423854:M626I;ENSP00000380591:M627I	ENSP00000265109:M634I	M	+	3	0	RAI14	34859606	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.762000	0.62250	2.683000	0.91414	0.555000	0.69702	ATG	RAI14	-	NULL		0.433	RAI14-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RAI14	HGNC	protein_coding	OTTHUMT00000366786.1	G	NM_015577		34823849	+1	no_errors	ENST00000515799	ensembl	human	known	70_37	missense	SNP	1.000	A
RALA	5898	genome.wustl.edu	37	7	39736381	39736381	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:39736381G>A	ENST00000005257.2	+	4	801	c.421G>A	c.(421-423)Gag>Aag	p.E141K	RALA_ENST00000468201.1_3'UTR	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	141					actin cytoskeleton reorganization (GO:0031532)|chemotaxis (GO:0006935)|cytokinesis (GO:0000910)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|membrane raft localization (GO:0051665)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of filopodium assembly (GO:0051491)|Ras protein signal transduction (GO:0007265)|regulation of exocytosis (GO:0017157)|signal transduction (GO:0007165)|viral process (GO:0016032)	cell surface (GO:0009986)|cleavage furrow (GO:0032154)|cytoplasmic vesicle membrane (GO:0030659)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)	Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						TTCTGTAGAAGAGGCAAAAAA	0.378																																																	0													97.0	91.0	93.0					7																	39736381		2203	4300	6503	SO:0001583	missense	5898				CCDS5460.1	7p22-p15	2014-05-09			ENSG00000006451	ENSG00000006451			9839	protein-coding gene	gene with protein product	"""RAS-like protein A"", ""Ras-related protein Ral-A"", ""Ras family small GTP binding protein RALA"", ""ras related GTP binding protein A"""	179550		RAL		3292391	Standard	NM_005402		Approved		uc003thd.3	P11233	OTTHUMG00000128775	ENST00000005257.2:c.421G>A	7.37:g.39736381G>A	ENSP00000005257:p.Glu141Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1W3	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.E141K	ENST00000005257.2	37	c.421	CCDS5460.1	7	.	.	.	.	.	.	.	.	.	.	G	27.2	4.812129	0.90707	.	.	ENSG00000006451	ENST00000005257	T	0.78595	-1.19	4.84	3.96	0.45880	Small GTP-binding protein domain (1);	0.044324	0.85682	D	0.000000	D	0.83552	0.5279	M	0.82323	2.585	0.80722	D	1	P	0.45011	0.848	P	0.49887	0.625	D	0.85314	0.1080	10	0.56958	D	0.05	.	13.3498	0.60595	0.0766:0.0:0.9234:0.0	.	141	P11233	RALA_HUMAN	K	141	ENSP00000005257:E141K	ENSP00000005257:E141K	E	+	1	0	RALA	39702906	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.864000	0.99589	1.173000	0.42796	0.563000	0.77884	GAG	RALA	-	pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,tigrfam_Small_GTP-bd_dom		0.378	RALA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RALA	HGNC	protein_coding	OTTHUMT00000250696.2	G	NM_005402		39736381	+1	no_errors	ENST00000005257	ensembl	human	known	70_37	missense	SNP	1.000	A
RANBP10	57610	genome.wustl.edu	37	16	67805964	67805964	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:67805964G>C	ENST00000317506.3	-	3	488	c.373C>G	c.(373-375)Caa>Gaa	p.Q125E	RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000411657.2_Missense_Mutation_p.Q8E|RANBP10_ENST00000425512.2_Intron|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602677.1_Missense_Mutation_p.Q125E|RANBP10_ENST00000448631.2_Missense_Mutation_p.Q125E	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	125	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		TTGACGCCTTGAGCCGAGAGT	0.398																																																	0													150.0	142.0	145.0					16																	67805964		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.373C>G	16.37:g.67805964G>C	ENSP00000316589:p.Gln125Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.Q125E	ENST00000317506.3	37	c.373	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025451	0.54683	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000411657	T;T;T	0.66638	-0.22;0.37;-0.22	5.04	5.04	0.67666	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.057233	0.64402	D	0.000001	T	0.62011	0.2393	N	0.05230	-0.09	0.80722	D	1	B;B;D;B	0.54207	0.026;0.447;0.965;0.082	B;B;P;B	0.61201	0.036;0.222;0.885;0.081	T	0.63791	-0.6557	10	0.30854	T	0.27	-13.2928	15.7681	0.78143	0.0:0.0:1.0:0.0	.	125;8;125;125	B4E1Y2;B4DID0;B4DQH9;Q6VN20	.;.;.;RBP10_HUMAN	E	125;125;8	ENSP00000316589:Q125E;ENSP00000392808:Q125E;ENSP00000416460:Q8E	ENSP00000316589:Q125E	Q	-	1	0	RANBP10	66363465	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.829000	0.75314	2.791000	0.96007	0.655000	0.94253	CAA	RANBP10	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.398	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	G	NM_020850		67805964	-1	no_errors	ENST00000317506	ensembl	human	known	70_37	missense	SNP	1.000	C
RANBP2	5903	genome.wustl.edu	37	2	109381095	109381095	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:109381095C>T	ENST00000283195.6	+	20	4226	c.4100C>T	c.(4099-4101)tCa>tTa	p.S1367L		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1367					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)	p.S1367L(2)	RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						AAGAATGCTTCAACTGCTAAG	0.393																																																	2	Substitution - Missense(2)	kidney(2)											89.0	89.0	89.0					2																	109381095		2203	4300	6503	SO:0001583	missense	5903			D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.4100C>T	2.37:g.109381095C>T	ENSP00000283195:p.Ser1367Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13074|Q15280|Q53TE2|Q59FH7	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_Znf_RanBP2,pfam_IR1-M,pfam_Cyclophilin-like_PPIase_dom,pfam_TPR-1,superfamily_Cyclophilin-like_PPIase_dom,smart_TPR_repeat,smart_Ran_bind_dom,smart_Znf_RanBP2,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Znf_RanBP2,pfscan_Cyclophilin-like_PPIase_dom,pfscan_Ran_bind_dom,prints_Cyclophilin-like_PPIase_dom	p.S1367L	ENST00000283195.6	37	c.4100	CCDS2079.1	2	.	.	.	.	.	.	.	.	.	.	C	14.68	2.606460	0.46527	.	.	ENSG00000153201	ENST00000283195	T	0.56444	0.46	5.48	5.48	0.80851	Zinc finger, RanBP2-type (4);	.	.	.	.	T	0.38480	0.1042	N	0.14661	0.345	0.23331	N	0.997897	B	0.15141	0.012	B	0.18561	0.022	T	0.24368	-1.0162	9	0.44086	T	0.13	-17.6754	13.6215	0.62140	0.0:0.926:0.0:0.074	.	1367	P49792	RBP2_HUMAN	L	1367	ENSP00000283195:S1367L	ENSP00000283195:S1367L	S	+	2	0	RANBP2	108747527	0.036000	0.19791	0.999000	0.59377	0.969000	0.65631	1.913000	0.39956	2.554000	0.86153	0.655000	0.94253	TCA	RANBP2	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.393	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP2	HGNC	protein_coding	OTTHUMT00000253594.1	C	NM_006267		109381095	+1	no_errors	ENST00000283195	ensembl	human	known	70_37	missense	SNP	0.994	T
RANBP3	8498	genome.wustl.edu	37	19	5928059	5928059	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:5928059C>G	ENST00000340578.6	-	9	790	c.733G>C	c.(733-735)Gaa>Caa	p.E245Q	RANBP3_ENST00000541471.1_Missense_Mutation_p.E117Q|RANBP3_ENST00000591092.1_Missense_Mutation_p.E172Q|RANBP3_ENST00000439268.2_Missense_Mutation_p.E240Q|RANBP3_ENST00000034275.8_Missense_Mutation_p.E177Q	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	245					intracellular transport (GO:0046907)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	R-SMAD binding (GO:0070412)|Ran GTPase binding (GO:0008536)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						GCTTCCTCTTCAGAGGCATTG	0.468																																																	0													117.0	119.0	118.0					19																	5928059		1879	4099	5978	SO:0001583	missense	8498			Y08698	CCDS42477.1, CCDS42478.1, CCDS45935.1, CCDS74268.1	19p13.3	2008-02-05							9850	protein-coding gene	gene with protein product		603327				9637251	Standard	NM_007322		Approved		uc002mdw.3	Q9H6Z4		ENST00000340578.6:c.733G>C	19.37:g.5928059C>G	ENSP00000341483:p.Glu245Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAT8|O60405|O75759|O75760|Q9BT47|Q9UG74	Missense_Mutation	SNP	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom	p.E245Q	ENST00000340578.6	37	c.733	CCDS42478.1	19	.	.	.	.	.	.	.	.	.	.	C	6.180	0.401465	0.11696	.	.	ENSG00000031823	ENST00000340578;ENST00000439268;ENST00000034275;ENST00000324807;ENST00000541471	T;T;T;T	0.35048	1.33;1.4;2.08;1.35	5.3	0.866	0.19079	.	1.060160	0.07177	N	0.853323	T	0.30727	0.0774	L	0.51422	1.61	0.09310	N	1	P;B;B;B;P;B;B	0.35348	0.496;0.363;0.363;0.242;0.496;0.355;0.363	B;B;B;B;B;B;B	0.36845	0.165;0.118;0.059;0.081;0.234;0.234;0.118	T	0.27088	-1.0084	10	0.17832	T	0.49	-4.7248	7.0218	0.24918	0.0:0.5599:0.0:0.4401	.	117;240;117;172;177;240;245	F5H4C2;Q53GE1;B7Z5P4;B7Z7F3;Q9H6Z4-3;Q9H6Z4-2;Q9H6Z4	.;.;.;.;.;.;RANB3_HUMAN	Q	245;240;177;176;117	ENSP00000341483:E245Q;ENSP00000404837:E240Q;ENSP00000034275:E177Q;ENSP00000445071:E117Q	ENSP00000034275:E177Q	E	-	1	0	RANBP3	5879059	0.997000	0.39634	0.002000	0.10522	0.038000	0.13279	3.075000	0.50073	0.627000	0.30340	0.655000	0.94253	GAA	RANBP3	-	NULL		0.468	RANBP3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RANBP3	HGNC	protein_coding	OTTHUMT00000452304.1	C	NM_007322		5928059	-1	no_errors	ENST00000340578	ensembl	human	known	70_37	missense	SNP	0.003	G
RARS2	57038	genome.wustl.edu	37	6	88265183	88265183	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:88265183C>G	ENST00000369536.5	-	5	383	c.338G>C	c.(337-339)gGa>gCa	p.G113A		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	113					arginyl-tRNA aminoacylation (GO:0006420)|gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrial matrix (GO:0005759)	arginine-tRNA ligase activity (GO:0004814)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACTTTTTAATCCATATTTTGA	0.343																																																	0													110.0	107.0	108.0					6																	88265183		2203	4300	6503	SO:0001583	missense	57038			AK093934	CCDS5011.1	6q16.1	2011-07-01	2007-09-27	2007-02-23	ENSG00000146282	ENSG00000146282	6.1.1.19	"""Aminoacyl tRNA synthetases / Class I"""	21406	protein-coding gene	gene with protein product	"""arginine tRNA ligase 2, mitochondrial (putative)"""	611524	"""arginyl-tRNA synthetase-like"""	RARSL		17847012	Standard	NM_020320		Approved	MGC14993, MGC23778, PRO1992, dJ382I10.6, DALRD2	uc003pme.3	Q5T160	OTTHUMG00000015178	ENST00000369536.5:c.338G>C	6.37:g.88265183C>G	ENSP00000358549:p.Gly113Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDT7|Q96FU5|Q9H8K8	Missense_Mutation	SNP	pfam_Arg-tRNA-synth_Ia_core,pfam_DALR_anticod-bd,superfamily_tRNAsynth_1a_anticodon-bd,superfamily_Arg-tRNA-synth_N,smart_DALR_anticod-bd,prints_Arg-tRNA-synth_Ia_core,tigrfam_Arg-tRNA-ligase_Ia	p.G113A	ENST00000369536.5	37	c.338	CCDS5011.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.2|22.2	4.261902|4.261902	0.80358|0.80358	.|.	.|.	ENSG00000146282|ENSG00000146282	ENST00000451155|ENST00000369536;ENST00000369523	.|D	.|0.95690	.|-3.78	5.66|5.66	5.66|5.66	0.87406|0.87406	.|Arginyl tRNA synthetase, class Ia, N-terminal (2);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.97760|0.97760	0.9265|0.9265	M|M	0.85542|0.85542	2.76|2.76	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.79108	.|0.992	D|D	0.97514|0.97514	1.0068|1.0068	5|10	.|0.51188	.|T	.|0.08	.|.	18.5727|18.5727	0.91142|0.91142	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|113	.|Q5T160	.|SYRM_HUMAN	H|A	141|113;140	.|ENSP00000358549:G113A	.|ENSP00000358536:G140A	D|G	-|-	1|2	0|0	RARS2|RARS2	88321902|88321902	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	5.319000|5.319000	0.65835|0.65835	2.676000|2.676000	0.91093|0.91093	0.586000|0.586000	0.80456|0.80456	GAT|GGA	RARS2	-	superfamily_Arg-tRNA-synth_N,tigrfam_Arg-tRNA-ligase_Ia		0.343	RARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RARS2	HGNC	protein_coding	OTTHUMT00000041448.1	C	NM_020320		88265183	-1	no_errors	ENST00000369536	ensembl	human	known	70_37	missense	SNP	1.000	G
RASGRP3	25780	genome.wustl.edu	37	2	33783806	33783806	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:33783806C>T	ENST00000403687.3	+	17	2513	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	RASGRP3_ENST00000402538.3_Silent_p.I591I|AC020594.5_ENST00000437680.1_RNA|RASGRP3_ENST00000407811.1_Silent_p.I590I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	591					MAPK cascade (GO:0000165)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rap GTPase activity (GO:0032854)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)	guanyl-nucleotide exchange factor complex (GO:0032045)|integral component of plasma membrane (GO:0005887)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|diacylglycerol binding (GO:0019992)|guanyl-nucleotide exchange factor activity (GO:0005085)|Rap GTPase activator activity (GO:0046582)|Ras guanyl-nucleotide exchange factor activity (GO:0005088)|signal transducer activity (GO:0004871)			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GCAGAGCCATCACACTGGTTA	0.542																																																	0													77.0	72.0	74.0					2																	33783806		1987	4184	6171	SO:0001819	synonymous_variant	25780			AB020653	CCDS46256.1, CCDS54346.1	2p25.1-p24.1	2013-01-10			ENSG00000152689	ENSG00000152689		"""EF-hand domain containing"""	14545	protein-coding gene	gene with protein product		609531				10048485, 10934204	Standard	NM_170672		Approved	KIAA0846, GRP3	uc002roy.3	Q8IV61	OTTHUMG00000152124	ENST00000403687.3:c.1773C>T	2.37:g.33783806C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W583|O94931|Q53SD7	Silent	SNP	pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,smart_EF_hand_Ca-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_HAND_2,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd	p.I591	ENST00000403687.3	37	c.1773	CCDS46256.1	2																																																																																			RASGRP3	-	NULL		0.542	RASGRP3-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	RASGRP3	HGNC	protein_coding	OTTHUMT00000325462.2	C	NM_015376		33783806	+1	no_errors	ENST00000402538	ensembl	human	known	70_37	silent	SNP	1.000	T
RASSF4	83937	genome.wustl.edu	37	10	45485136	45485136	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:45485136G>C	ENST00000340258.5	+	8	765	c.652G>C	c.(652-654)Gag>Cag	p.E218Q	RASSF4_ENST00000472561.1_3'UTR|RASSF4_ENST00000374417.2_3'UTR|RASSF4_ENST00000334940.6_Missense_Mutation_p.E227Q	NM_032023.3	NP_114412.2	Q8WYP3	RIN2_HUMAN	Ras association (RalGDS/AF-6) domain family member 4	833					endocytosis (GO:0006897)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of catalytic activity (GO:0050790)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	GTPase activator activity (GO:0005096)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)|small GTPase regulator activity (GO:0005083)	p.E218*(1)		NS(1)|endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGGCCCCAGTGAGTTCGCACT	0.547																																																	1	Substitution - Nonsense(1)	upper_aerodigestive_tract(1)											143.0	112.0	123.0					10																	45485136		2203	4300	6503	SO:0001583	missense	83937			BC032593	CCDS7208.1	10q11.1	2008-02-22	2008-02-22		ENSG00000107551	ENSG00000107551			20793	protein-coding gene	gene with protein product		610559					Standard	NM_032023		Approved	AD037, MGC44914	uc001jbo.3	Q9H2L5	OTTHUMG00000018060	ENST00000340258.5:c.652G>C	10.37:g.45485136G>C	ENSP00000339692:p.Glu218Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q00425|Q5TFT8|Q9BQL3|Q9H071	Missense_Mutation	SNP	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc,pfscan_SARAH	p.E227Q	ENST00000340258.5	37	c.679	CCDS7208.1	10	.	.	.	.	.	.	.	.	.	.	G	21.1	4.097819	0.76870	.	.	ENSG00000107551	ENST00000334940;ENST00000340258;ENST00000374411	T;T	0.17370	2.28;2.28	5.83	4.93	0.64822	Ras-association (3);	0.000000	0.85682	D	0.000000	T	0.42471	0.1204	M	0.78637	2.42	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	T	0.40365	-0.9567	10	0.66056	D	0.02	-35.3606	12.7099	0.57083	0.0793:0.0:0.9207:0.0	.	227;309;218	Q9H2L5-2;Q59FL4;Q9H2L5	.;.;RASF4_HUMAN	Q	227;218;309	ENSP00000334543:E227Q;ENSP00000339692:E218Q	ENSP00000334543:E227Q	E	+	1	0	RASSF4	44805142	1.000000	0.71417	0.873000	0.34254	0.683000	0.39861	8.036000	0.88901	1.473000	0.48159	0.650000	0.86243	GAG	RASSF4	-	pfam_Ras-assoc,smart_Ras-assoc,pfscan_Ras-assoc		0.547	RASSF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF4	HGNC	protein_coding	OTTHUMT00000047745.2	G	NM_032023		45485136	+1	no_errors	ENST00000334940	ensembl	human	known	70_37	missense	SNP	0.995	C
RASSF7	8045	genome.wustl.edu	37	11	562206	562206	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:562206G>A	ENST00000397583.3	+	3	685	c.252G>A	c.(250-252)ctG>ctA	p.L84L	RASSF7_ENST00000431809.1_Silent_p.L84L|RASSF7_ENST00000524468.1_3'UTR|RASSF7_ENST00000454668.2_Silent_p.L84L|C11orf35_ENST00000329451.3_5'Flank|RP11-496I9.1_ENST00000527113.1_RNA|RP11-496I9.1_ENST00000527620.1_RNA|RASSF7_ENST00000397582.3_Silent_p.L84L|RASSF7_ENST00000344375.4_Silent_p.L84L	NM_003475.3	NP_003466.1	Q02833	RASF7_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 7	84	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				apoptotic process (GO:0006915)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(3)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGTTTGTCCTGAGGCGCACAG	0.652																																					Pancreas(184;1170 3913 7268)												0													46.0	45.0	45.0					11																	562206		2203	4300	6503	SO:0001819	synonymous_variant	8045			M91083	CCDS7702.1, CCDS44505.1, CCDS44506.1	11p15.5	2008-02-22	2008-02-22	2005-09-14	ENSG00000099849	ENSG00000099849			1166	protein-coding gene	gene with protein product		143023	"""chromosome 11 open reading frame 13"""	C11orf13		1339391	Standard	NM_001143993		Approved	HRC1, HRAS1	uc001lqc.3	Q02833	OTTHUMG00000132004	ENST00000397583.3:c.252G>A	11.37:g.562206G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9N9|Q3KP41|Q3KP42	Missense_Mutation	SNP	NULL	p.E83K	ENST00000397583.3	37	c.247	CCDS7702.1	11																																																																																			RASSF7	-	NULL		0.652	RASSF7-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RASSF7	HGNC	protein_coding	OTTHUMT00000254972.2	G	NM_003475		562206	+1	no_errors	ENST00000414138	ensembl	human	known	70_37	missense	SNP	1.000	A
RASSF9	9182	genome.wustl.edu	37	12	86198527	86198527	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:86198527G>C	ENST00000361228.3	-	2	1629	c.1261C>G	c.(1261-1263)Cag>Gag	p.Q421E		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	421					endosomal transport (GO:0016197)|protein targeting (GO:0006605)|signal transduction (GO:0007165)	cytosol (GO:0005829)|endosome (GO:0005768)|trans-Golgi network transport vesicle membrane (GO:0012510)	transporter activity (GO:0005215)			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCGGAGTCCTGACTGTGGTTA	0.413																																																	0													130.0	122.0	125.0					12																	86198527		1973	4163	6136	SO:0001583	missense	9182				CCDS44950.1	12q21.31	2008-02-22	2008-02-22	2008-02-22		ENSG00000198774			15739	protein-coding gene	gene with protein product		610383	"""peptidylglycine alpha-amidating monooxygenase COOH-terminal interactor"""	PAMCI		9837933, 18272789	Standard	NM_005447		Approved	P-CIP1	uc001taf.1	O75901	OTTHUMG00000169831	ENST00000361228.3:c.1261C>G	12.37:g.86198527G>C	ENSP00000354884:p.Gln421Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMQ4|Q8N5U8	Missense_Mutation	SNP	smart_Ras-assoc,pfscan_Ras-assoc	p.Q421E	ENST00000361228.3	37	c.1261	CCDS44950.1	12	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674312	0.67928	.	.	ENSG00000198774	ENST00000361228	T	0.69561	-0.41	5.29	5.29	0.74685	.	0.000000	0.85682	U	0.000000	T	0.82001	0.4942	M	0.69823	2.125	0.58432	D	0.999999	D	0.71674	0.998	D	0.83275	0.996	D	0.83418	0.0031	10	0.72032	D	0.01	-10.8742	19.2781	0.94040	0.0:0.0:1.0:0.0	.	421	O75901	RASF9_HUMAN	E	421	ENSP00000354884:Q421E	ENSP00000354884:Q421E	Q	-	1	0	RASSF9	84722658	1.000000	0.71417	1.000000	0.80357	0.594000	0.36715	9.751000	0.98889	2.630000	0.89119	0.650000	0.86243	CAG	RASSF9	-	NULL		0.413	RASSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RASSF9	HGNC	protein_coding	OTTHUMT00000406109.1	G			86198527	-1	no_errors	ENST00000361228	ensembl	human	known	70_37	missense	SNP	1.000	C
RB1	5925	genome.wustl.edu	37	13	48923137	48923137	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:48923137G>T	ENST00000267163.4	+	6	723	c.585G>T	c.(583-585)tgG>tgT	p.W195C		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	195					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(6)|p.W195*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	AAGTTTCTTGGATCACATTTT	0.264		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	22	Whole gene deletion(15)|Unknown(6)|Substitution - Nonsense(1)	bone(11)|breast(7)|eye(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)											65.0	71.0	69.0					13																	48923137		2199	4280	6479	SO:0001583	missense	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.585G>T	13.37:g.48923137G>T	ENSP00000267163:p.Trp195Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5E3|P78499|Q5VW46|Q8IZL4	Missense_Mutation	SNP	pfam_Rb_C,pfam_RB_A,pfam_RB_B,pfam_DUF3452_retinoblatoma-assoc,superfamily_Cyclin-like,superfamily_FH2_actin-bd,smart_Cyclin-like	p.W195C	ENST00000267163.4	37	c.585	CCDS31973.1	13	.	.	.	.	.	.	.	.	.	.	G	17.84	3.488684	0.64074	.	.	ENSG00000139687	ENST00000542917;ENST00000267163	D	0.97710	-4.5	5.23	5.23	0.72850	Domain of unknown function DUF3452, retinoblastoma-associated (1);	0.000000	0.85682	D	0.000000	D	0.98242	0.9418	L	0.61218	1.895	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.98844	1.0756	10	0.87932	D	0	.	14.6514	0.68800	0.0:0.0:1.0:0.0	.	195	P06400	RB_HUMAN	C	174;195	ENSP00000267163:W195C	ENSP00000267163:W195C	W	+	3	0	RB1	47821138	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.585000	0.67497	2.613000	0.88420	0.650000	0.86243	TGG	RB1	-	pfam_DUF3452_retinoblatoma-assoc		0.264	RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	RB1	HGNC	protein_coding	OTTHUMT00000044884.1	G			48923137	+1	no_errors	ENST00000267163	ensembl	human	known	70_37	missense	SNP	1.000	T
RBBP8NL	140893	genome.wustl.edu	37	20	60994665	60994665	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:60994665C>G	ENST00000252998.1	-	2	195	c.39G>C	c.(37-39)gaG>gaC	p.E13D		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	13						extracellular space (GO:0005615)											TCTCGTGGATCTCCTTCAGCC	0.657																																																	0													125.0	109.0	115.0					20																	60994665		2203	4300	6503	SO:0001583	missense	140893			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.39G>C	20.37:g.60994665C>G	ENSP00000252998:p.Glu13Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	pfam_CtIP_N	p.E13D	ENST00000252998.1	37	c.39	CCDS13498.1	20	.	.	.	.	.	.	.	.	.	.	C	3.120	-0.180829	0.06380	.	.	ENSG00000130701	ENST00000252998	T	0.22134	1.97	3.89	-5.11	0.02901	Tumour-suppressor protein CtIP N-terminal (1);	0.316379	0.28146	N	0.016437	T	0.07279	0.0184	N	0.12746	0.255	0.09310	N	0.999999	B	0.06786	0.001	B	0.09377	0.004	T	0.13469	-1.0508	10	0.30078	T	0.28	-7.6983	4.1583	0.10272	0.0819:0.2341:0.4117:0.2723	.	13	Q8NC74	CT151_HUMAN	D	13	ENSP00000252998:E13D	ENSP00000252998:E13D	E	-	3	2	C20orf151	60428060	0.000000	0.05858	0.572000	0.28498	0.932000	0.56968	-1.798000	0.01747	-0.872000	0.04037	-0.360000	0.07572	GAG	RBBP8NL	-	pfam_CtIP_N		0.657	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	HGNC	protein_coding	OTTHUMT00000080029.1	C	NM_080833		60994665	-1	no_errors	ENST00000252998	ensembl	human	known	70_37	missense	SNP	0.137	G
RBM10	8241	genome.wustl.edu	37	X	47038524	47038524	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:47038524G>A	ENST00000377604.3	+	8	1428	c.686G>A	c.(685-687)cGc>cAc	p.R229H	RBM10_ENST00000329236.7_Missense_Mutation_p.R152H|RBM10_ENST00000345781.6_Missense_Mutation_p.R152H	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	229					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AACTTCAAACGCCGAGAGAAG	0.597																																					Melanoma(171;120 2705 19495 39241)												0													86.0	61.0	69.0					X																	47038524		2203	4300	6503	SO:0001583	missense	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.686G>A	X.37:g.47038524G>A	ENSP00000366829:p.Arg229His	Somatic		WXS	Illumina HiSeq	Phase_IV	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Missense_Mutation	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.R229H	ENST00000377604.3	37	c.686	CCDS14274.1	X	.	.	.	.	.	.	.	.	.	.	G	29.5	5.009161	0.93346	.	.	ENSG00000182872	ENST00000377604;ENST00000329236;ENST00000345781	T;T;T	0.54071	0.59;0.59;0.59	5.16	5.16	0.70880	Zinc finger, RanBP2-type (4);	0.251378	0.38548	N	0.001656	T	0.72036	0.3411	M	0.79614	2.46	0.47476	D	0.999439	P;D;D;P;D	0.76494	0.939;0.998;0.999;0.726;0.998	P;D;D;B;D	0.68192	0.636;0.956;0.927;0.276;0.93	T	0.76239	-0.3032	10	0.72032	D	0.01	-0.2631	15.2785	0.73760	0.0:0.0:1.0:0.0	.	152;294;229;152;229	P98175-3;Q7Z3D7;P98175-2;P98175-4;P98175	.;.;.;.;RBM10_HUMAN	H	229;152;152	ENSP00000366829:R229H;ENSP00000328848:R152H;ENSP00000329659:R152H	ENSP00000328848:R152H	R	+	2	0	RBM10	46923468	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	9.781000	0.99029	2.286000	0.76751	0.436000	0.28706	CGC	RBM10	-	pfam_Znf_RanBP2,smart_Znf_RanBP2,pfscan_Znf_RanBP2		0.597	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	G	NM_005676		47038524	+1	no_errors	ENST00000377604	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM11	54033	genome.wustl.edu	37	21	15596832	15596832	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:15596832C>T	ENST00000400577.3	+	4	415	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	136					cell differentiation (GO:0030154)|cellular response to oxidative stress (GO:0034599)|mRNA processing (GO:0006397)|multicellular organismal development (GO:0007275)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(U) RNA binding (GO:0008266)|protein homodimerization activity (GO:0042803)			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TTCTTTACCTCAAGAATATTT	0.294																																																	0													55.0	52.0	53.0					21																	15596832		1786	4058	5844	SO:0001587	stop_gained	54033			AF130358	CCDS46635.1	21q11	2013-02-12			ENSG00000185272	ENSG00000185272		"""RNA binding motif (RRM) containing"""	9897	protein-coding gene	gene with protein product						12036298	Standard	NM_144770		Approved		uc002yjo.4	P57052	OTTHUMG00000074263	ENST00000400577.3:c.406C>T	21.37:g.15596832C>T	ENSP00000383421:p.Gln136*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6YNC2|Q8NBA1|Q8NFF6	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.Q136*	ENST00000400577.3	37	c.406	CCDS46635.1	21	.	.	.	.	.	.	.	.	.	.	C	26.6	4.752996	0.89753	.	.	ENSG00000185272	ENST00000400577	.	.	.	4.92	4.92	0.64577	.	0.082646	0.51477	D	0.000090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	-13.2467	16.776	0.85550	0.0:1.0:0.0:0.0	.	.	.	.	X	136	.	ENSP00000383421:Q136X	Q	+	1	0	RBM11	14518703	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	1.956000	0.40382	2.667000	0.90743	0.650000	0.86243	CAA	RBM11	-	NULL		0.294	RBM11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM11	HGNC	protein_coding	OTTHUMT00000157818.1	C	NM_144770		15596832	+1	no_errors	ENST00000400577	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RBM17	84991	genome.wustl.edu	37	10	6139113	6139113	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:6139113C>T	ENST00000446108.1	+	2	729	c.85C>T	c.(85-87)Cag>Tag	p.Q29*	RBM17_ENST00000379888.4_Nonsense_Mutation_p.Q29*	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	29					alternative mRNA splicing, via spliceosome (GO:0000380)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						TCTGCAGTCTCAGCTTCAGGT	0.483																																																	0													99.0	101.0	100.0					10																	6139113		2203	4300	6503	SO:0001587	stop_gained	84991			AF083384	CCDS7077.1	10p15.1	2013-01-28			ENSG00000134453	ENSG00000134453		"""RNA binding motif (RRM) containing"", ""G patch domain containing"""	16944	protein-coding gene	gene with protein product	"""splicing factor 45kDa"""	606935				9731529	Standard	NM_032905		Approved	SPF45, MGC14439	uc001ijb.3	Q96I25	OTTHUMG00000017618	ENST00000446108.1:c.85C>T	10.37:g.6139113C>T	ENSP00000388638:p.Gln29*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96GY6	Nonsense_Mutation	SNP	pfam_G_patch_dom,smart_G_patch_dom,smart_RRM_dom_euk,pirsf_Splicing_factor_SPF45,pfscan_G_patch_dom	p.Q29*	ENST00000446108.1	37	c.85	CCDS7077.1	10	.	.	.	.	.	.	.	.	.	.	C	40	7.948482	0.98577	.	.	ENSG00000134453	ENST00000379888;ENST00000432931;ENST00000446108;ENST00000418631	.	.	.	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-15.9282	17.8748	0.88822	0.0:1.0:0.0:0.0	.	.	.	.	X	29	.	ENSP00000369218:Q29X	Q	+	1	0	RBM17	6179119	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.384000	0.79751	2.276000	0.75962	0.460000	0.39030	CAG	RBM17	-	pirsf_Splicing_factor_SPF45		0.483	RBM17-201	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM17	HGNC	protein_coding	OTTHUMT00000046635.1	C	NM_032905		6139113	+1	no_errors	ENST00000379888	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RBM33	155435	genome.wustl.edu	37	7	155534643	155534643	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:155534643C>G	ENST00000401878.3	+	13	2378	c.2180C>G	c.(2179-2181)tCt>tGt	p.S727C		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	727							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AGCCGCTGCTCTGCCACGCCC	0.582																																																	0													90.0	89.0	89.0					7																	155534643		2203	4300	6503	SO:0001583	missense	155435			AL832196	CCDS5941.2	7q36.3	2013-02-12			ENSG00000184863	ENSG00000184863		"""RNA binding motif (RRM) containing"""	27223	protein-coding gene	gene with protein product			"""proline rich 8"""	PRR8			Standard	NM_053043		Approved	DKFZp686F102, MGC20460, DKFZp434D1319	uc010lqk.1	Q96EV2	OTTHUMG00000150260	ENST00000401878.3:c.2180C>G	7.37:g.155534643C>G	ENSP00000384160:p.Ser727Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D244|B5MC24|Q52LF5|Q75LN9|Q75ML5|Q9NSV0	Missense_Mutation	SNP	smart_RRM_dom	p.S727C	ENST00000401878.3	37	c.2180	CCDS5941.2	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.29|15.29	2.788471|2.788471	0.49997|0.49997	.|.	.|.	ENSG00000184863|ENSG00000184863	ENST00000392761|ENST00000401878	.|T	.|0.47869	.|0.83	5.78|5.78	4.85|4.85	0.62838|0.62838	.|.	.|0.401206	.|0.24191	.|N	.|0.040716	T|T	0.59770|0.59770	0.2218|0.2218	L|L	0.55481|0.55481	1.735|1.735	0.54753|0.54753	D|D	0.999983|0.999983	.|D;D	.|0.76494	.|0.99;0.999	.|P;D	.|0.64595	.|0.639;0.927	T|T	0.60831|0.60831	-0.7185|-0.7185	5|10	.|0.72032	.|D	.|0.01	.|.	11.2284|11.2284	0.48897|0.48897	0.1407:0.7233:0.1359:0.0|0.1407:0.7233:0.1359:0.0	.|.	.|444;727	.|B4DVQ2;Q96EV2	.|.;RBM33_HUMAN	V|C	499|727	.|ENSP00000384160:S727C	.|ENSP00000384160:S727C	L|S	+|+	1|2	2|0	RBM33|RBM33	155227404|155227404	0.795000|0.795000	0.28851|0.28851	0.992000|0.992000	0.48379|0.48379	0.225000|0.225000	0.24961|0.24961	1.528000|1.528000	0.35985|0.35985	2.734000|2.734000	0.93682|0.93682	0.591000|0.591000	0.81541|0.81541	CTG|TCT	RBM33	-	NULL		0.582	RBM33-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RBM33	HGNC	protein_coding	OTTHUMT00000317225.3	C	NM_001008408		155534643	+1	no_errors	ENST00000401878	ensembl	human	known	70_37	missense	SNP	0.672	G
RBM45	129831	genome.wustl.edu	37	2	178985070	178985070	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:178985070G>C	ENST00000286070.5	+	4	699	c.607G>C	c.(607-609)Gat>Cat	p.D203H		NM_152945.2	NP_694453.2	Q8IUH3	RBM45_HUMAN	RNA binding motif protein 45	203					cell differentiation (GO:0030154)|nervous system development (GO:0007399)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CTCTGAACAAGATTATTATAG	0.323																																																	0													68.0	71.0	70.0					2																	178985070		2202	4300	6502	SO:0001583	missense	129831			AF526533	CCDS33335.1	2q31.2	2013-02-12			ENSG00000155636	ENSG00000155636		"""RNA binding motif (RRM) containing"""	24468	protein-coding gene	gene with protein product	"""developmentally regulated RNA binding protein 1"""	608888				12220514	Standard	XM_005246287		Approved	DRB1, FLJ44612	uc002ulv.3	Q8IUH3	OTTHUMG00000154202	ENST00000286070.5:c.607G>C	2.37:g.178985070G>C	ENSP00000286070:p.Asp203His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NYL0|Q8NFC9	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.D203H	ENST00000286070.5	37	c.607	CCDS33335.1	2	.	.	.	.	.	.	.	.	.	.	G	23.1	4.375291	0.82682	.	.	ENSG00000155636	ENST00000286070	T	0.05717	3.4	6.16	6.16	0.99307	.	0.089817	0.85682	D	0.000000	T	0.19127	0.0459	L	0.43152	1.355	0.80722	D	1	D	0.69078	0.997	D	0.63192	0.912	T	0.00004	-1.2548	10	0.62326	D	0.03	-17.9187	19.848	0.96722	0.0:0.0:1.0:0.0	.	203	Q8IUH3-3	.	H	203	ENSP00000286070:D203H	ENSP00000286070:D203H	D	+	1	0	RBM45	178693316	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	5.108000	0.64609	2.937000	0.99478	0.650000	0.86243	GAT	RBM45	-	NULL		0.323	RBM45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM45	HGNC	protein_coding	OTTHUMT00000334375.2	G	NM_152945		178985070	+1	no_errors	ENST00000286070	ensembl	human	known	70_37	missense	SNP	1.000	C
RBX1	9978	genome.wustl.edu	37	22	41349561	41349561	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:41349561G>C	ENST00000216225.8	+	2	121	c.81G>C	c.(79-81)tgG>tgC	p.W27C	XPNPEP3_ENST00000544094.1_3'UTR	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	27					cellular response to hypoxia (GO:0071456)|DNA repair (GO:0006281)|Notch signaling pathway (GO:0007219)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein monoubiquitination (GO:0006513)|protein neddylation (GO:0045116)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|Cul5-RING ubiquitin ligase complex (GO:0031466)|Cul7-RING ubiquitin ligase complex (GO:0031467)|cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|SCF ubiquitin ligase complex (GO:0019005)|VCB complex (GO:0030891)	NEDD8 ligase activity (GO:0019788)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(3)|skin(1)	5						CTTTGCAGTGGAATGCAGTAG	0.468																																																	0													200.0	181.0	187.0					22																	41349561		2203	4300	6503	SO:0001583	missense	9978			AF140598	CCDS14009.1	22q13.2	2010-09-17	2010-09-17		ENSG00000100387	ENSG00000100387		"""RING-type (C3HC4) zinc fingers"""	9928	protein-coding gene	gene with protein product	"""regulator of cullins 1"""	603814	"""ring-box 1"""			10213691, 10230407	Standard	NM_014248		Approved	ROC1, RNF75, BA554C12.1	uc003azk.3	P62877	OTTHUMG00000151298	ENST00000216225.8:c.81G>C	22.37:g.41349561G>C	ENSP00000216225:p.Trp27Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDY1|Q8N6Z8|Q9D1S2|Q9WUK9|Q9Y254	Missense_Mutation	SNP	pfscan_Znf_RING	p.W27C	ENST00000216225.8	37	c.81	CCDS14009.1	22	.	.	.	.	.	.	.	.	.	.	G	24.5	4.535367	0.85812	.	.	ENSG00000100387	ENST00000216225	.	.	.	5.79	5.79	0.91817	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-H2-type (1);	0.000000	0.85682	D	0.000000	D	0.90400	0.6995	H	0.97707	4.06	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93269	0.6650	9	0.87932	D	0	.	18.8188	0.92088	0.0:0.0:1.0:0.0	.	27	P62877	RBX1_HUMAN	C	27	.	ENSP00000216225:W27C	W	+	3	0	RBX1	39679507	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.202000	0.95026	2.722000	0.93159	0.655000	0.94253	TGG	RBX1	-	NULL		0.468	RBX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBX1	HGNC	protein_coding	OTTHUMT00000322149.1	G	NM_014248		41349561	+1	no_errors	ENST00000216225	ensembl	human	known	70_37	missense	SNP	1.000	C
RDH8	50700	genome.wustl.edu	37	19	10131965	10131965	+	Missense_Mutation	SNP	G	G	A	rs142734308		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:10131965G>A	ENST00000171214.1	+	5	820	c.571G>A	c.(571-573)Gag>Aag	p.E191K	RDH8_ENST00000591589.1_Missense_Mutation_p.E211K	NM_015725.2	NP_056540.2	Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	191					estrogen biosynthetic process (GO:0006703)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|steroid biosynthetic process (GO:0006694)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CGTGGTCACCGAGTTTGAGGG	0.587																																																	0								G	LYS/GLU	0,4406		0,0,2203	70.0	67.0	68.0		571	4.1	0.1	19	dbSNP_134	68	2,8598	2.2+/-6.3	0,2,4298	no	missense	RDH8	NM_015725.2	56	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging	191/312	10131965	2,13004	2203	4300	6503	SO:0001583	missense	50700			AF229845	CCDS12223.1, CCDS12223.2	19p13.2	2011-09-14				ENSG00000080511	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	14423	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 28C, member 2"""	608575				10753906, 19027726	Standard	NM_015725		Approved	PRRDH, SDR28C2	uc002mmr.4	Q9NYR8		ENST00000171214.1:c.571G>A	19.37:g.10131965G>A	ENSP00000171214:p.Glu191Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H838	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR,prints_DHB_DH	p.E211K	ENST00000171214.1	37	c.631		19	.	.	.	.	.	.	.	.	.	.	G	17.50	3.405789	0.62288	0.0	2.33E-4	ENSG00000080511	ENST00000171214	D	0.93604	-3.25	5.17	4.13	0.48395	NAD(P)-binding domain (1);	0.329918	0.35151	N	0.003408	D	0.92044	0.7479	M	0.78049	2.395	0.43531	D	0.995812	P	0.39624	0.681	B	0.38264	0.269	D	0.90380	0.4387	10	0.41790	T	0.15	.	11.0447	0.47852	0.0909:0.0:0.9091:0.0	.	191	Q9NYR8	RDH8_HUMAN	K	191	ENSP00000171214:E191K	ENSP00000171214:E191K	E	+	1	0	RDH8	9992965	1.000000	0.71417	0.107000	0.21349	0.961000	0.63080	4.919000	0.63383	1.186000	0.42985	0.462000	0.41574	GAG	RDH8	-	pirsf_17beta_DH,prints_Glc/ribitol_DH,prints_DHB_DH		0.587	RDH8-201	KNOWN	basic|appris_principal	protein_coding	RDH8	HGNC	protein_coding		G			10131965	+1	no_errors	ENST00000591589	ensembl	human	known	70_37	missense	SNP	0.979	A
RELA	5970	genome.wustl.edu	37	11	65429479	65429479	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:65429479C>T	ENST00000406246.3	-	3	376	c.115G>A	c.(115-117)Gag>Aag	p.E39K	RELA_ENST00000525693.1_Missense_Mutation_p.E39K|RELA_ENST00000308639.9_Missense_Mutation_p.E39K	NM_001243984.1|NM_001243985.1|NM_021975.3	NP_001230913.1|NP_001230914.1|NP_068810.3	Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	39	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				acetaldehyde metabolic process (GO:0006117)|aging (GO:0007568)|cellular defense response (GO:0006968)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|cellular response to tumor necrosis factor (GO:0071356)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|Fc-epsilon receptor signaling pathway (GO:0038095)|hair follicle development (GO:0001942)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|liver development (GO:0001889)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|organ morphogenesis (GO:0009887)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-12 biosynthetic process (GO:0045084)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of Schwann cell differentiation (GO:0014040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|regulation of inflammatory response (GO:0050727)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to cobalamin (GO:0033590)|response to drug (GO:0042493)|response to insulin (GO:0032868)|response to interleukin-1 (GO:0070555)|response to mechanical stimulus (GO:0009612)|response to morphine (GO:0043278)|response to muramyl dipeptide (GO:0032495)|response to organic substance (GO:0010033)|response to progesterone (GO:0032570)|response to UV-B (GO:0010224)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	activating transcription factor binding (GO:0033613)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phosphate ion binding (GO:0042301)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|repressing transcription factor binding (GO:0070491)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GAGCGCCCCTCGCACTTGTAG	0.667																																																	0													65.0	59.0	61.0					11																	65429479		2201	4297	6498	SO:0001583	missense	5970			Z22951	CCDS31609.1, CCDS44651.1, CCDS73322.1	11q13	2013-07-09	2013-07-09		ENSG00000173039	ENSG00000173039			9955	protein-coding gene	gene with protein product		164014	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells 3"""	NFKB3		2001591	Standard	NM_021975		Approved	p65	uc001ofg.3	Q04206	OTTHUMG00000166566	ENST00000406246.3:c.115G>A	11.37:g.65429479C>T	ENSP00000384273:p.Glu39Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTV1|Q6SLK1	Missense_Mutation	SNP	pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NF_Rel_dor	p.E39K	ENST00000406246.3	37	c.115	CCDS31609.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.042657	0.97231	.	.	ENSG00000173039	ENST00000406246;ENST00000525693;ENST00000308639;ENST00000426617;ENST00000545816;ENST00000532999;ENST00000534558;ENST00000527749;ENST00000532879;ENST00000533187;ENST00000527874;ENST00000534283	T;T;T;T;T;T;T;T;T;T	0.70749	-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51;-0.51	4.52	4.52	0.55395	Rel homology (3);p53-like transcription factor, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.87997	0.6319	H	0.94771	3.58	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.99;0.994;1.0;1.0	D	0.91174	0.4971	10	0.87932	D	0	-25.2153	15.1015	0.72279	0.0:1.0:0.0:0.0	.	39;39;39;39;39	Q04206-3;Q04206-4;Q04206;B4E082;Q2TAM5	.;.;TF65_HUMAN;.;.	K	39;39;39;39;39;39;30;8;39;8;8;8	ENSP00000384273:E39K;ENSP00000432537:E39K;ENSP00000311508:E39K;ENSP00000433526:E39K;ENSP00000434372:E30K;ENSP00000436545:E8K;ENSP00000431153:E39K;ENSP00000434098:E8K;ENSP00000435531:E8K;ENSP00000433616:E8K	ENSP00000311508:E39K	E	-	1	0	RELA	65186055	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.190000	0.77755	2.510000	0.84645	0.655000	0.94253	GAG	RELA	-	pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD,prints_NF_Rel_dor		0.667	RELA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELA	HGNC	protein_coding	OTTHUMT00000390457.2	C	NM_021975		65429479	-1	no_errors	ENST00000406246	ensembl	human	known	70_37	missense	SNP	1.000	T
RERE	473	genome.wustl.edu	37	1	8716253	8716253	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:8716253G>C	ENST00000337907.3	-	3	738	c.104C>G	c.(103-105)tCa>tGa	p.S35*	RERE_ENST00000400908.2_Nonsense_Mutation_p.S35*|RERE_ENST00000400907.2_Nonsense_Mutation_p.S35*	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	35					chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCGTGGCCTTGAATTCTCACT	0.502																																																	0													174.0	176.0	175.0					1																	8716253		2203	4298	6501	SO:0001587	stop_gained	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.104C>G	1.37:g.8716253G>C	ENSP00000338629:p.Ser35*	Somatic		WXS	Illumina HiSeq	Phase_IV	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Nonsense_Mutation	SNP	pfam_Atrophin-like,pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.S35*	ENST00000337907.3	37	c.104	CCDS95.1	1	.	.	.	.	.	.	.	.	.	.	G	41	8.636714	0.98895	.	.	ENSG00000142599	ENST00000337907;ENST00000400907;ENST00000400908	.	.	.	5.45	5.45	0.79879	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-6.5477	18.2804	0.90096	0.0:0.0:1.0:0.0	.	.	.	.	X	35	.	ENSP00000338629:S35X	S	-	2	0	RERE	8638840	1.000000	0.71417	0.857000	0.33713	0.966000	0.64601	7.536000	0.82023	2.553000	0.86117	0.557000	0.71058	TCA	RERE	-	NULL		0.502	RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RERE	HGNC	protein_coding	OTTHUMT00000004916.1	G			8716253	-1	no_errors	ENST00000337907	ensembl	human	known	70_37	nonsense	SNP	1.000	C
REV3L	5980	genome.wustl.edu	37	6	111634580	111634580	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:111634580C>G	ENST00000358835.3	-	29	9033	c.8579G>C	c.(8578-8580)aGa>aCa	p.R2860T	REV3L_ENST00000368805.1_Missense_Mutation_p.R2860T|REV3L_ENST00000368802.3_Missense_Mutation_p.R2860T|RP5-1112D6.8_ENST00000607434.1_RNA|REV3L_ENST00000462119.1_5'UTR|REV3L_ENST00000435970.1_Missense_Mutation_p.R2782T			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	2860					DNA-dependent DNA replication (GO:0006261)|translesion synthesis (GO:0019985)	chromosome (GO:0005694)|nucleus (GO:0005634)|zeta DNA polymerase complex (GO:0016035)	4 iron, 4 sulfur cluster binding (GO:0051539)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GCAGGAATCTCTTCTGACTGT	0.373								DNA polymerases (catalytic subunits)																																									0													122.0	115.0	117.0					6																	111634580		2203	4300	6503	SO:0001583	missense	5980			AF058701	CCDS5091.2, CCDS69177.1	6q22	2012-05-18	2012-05-18		ENSG00000009413	ENSG00000009413		"""DNA polymerases"""	9968	protein-coding gene	gene with protein product	"""polymerase, DNA, zeta"""	602776	"""REV3 (yeast homolog)-like, catalytic subunit of DNA polymerase zeta"", ""REV3-like, catalytic subunit of DNA polymerase zeta (yeast)"""			9618506, 9925914	Standard	NM_001286431		Approved	POLZ, REV3	uc003puy.4	O60673	OTTHUMG00000016318	ENST00000358835.3:c.8579G>C	6.37:g.111634580C>G	ENSP00000351697:p.Arg2860Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O43214|Q5TC33	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B	p.R2860T	ENST00000358835.3	37	c.8579	CCDS5091.2	6	.	.	.	.	.	.	.	.	.	.	C	33	5.197453	0.94960	.	.	ENSG00000009413	ENST00000368802;ENST00000368805;ENST00000358835;ENST00000435970	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.78	5.78	0.91487	DNA polymerase, palm domain (1);DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.000000	0.85682	D	0.000000	T	0.58750	0.2144	M	0.86740	2.835	0.58432	D	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.64947	-0.6287	10	0.87932	D	0	.	20.0026	0.97425	0.0:1.0:0.0:0.0	.	2860	O60673	DPOLZ_HUMAN	T	2860;2860;2860;2782	ENSP00000357792:R2860T;ENSP00000357795:R2860T;ENSP00000351697:R2860T;ENSP00000402003:R2782T	ENSP00000351697:R2860T	R	-	2	0	REV3L	111741273	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.786000	0.85741	2.722000	0.93159	0.650000	0.86243	AGA	REV3L	-	pfam_DNA-dir_DNA_pol_B_multi_dom		0.373	REV3L-201	KNOWN	basic|appris_principal|CCDS	protein_coding	REV3L	HGNC	protein_coding	OTTHUMT00000043695.1	C	NM_002912		111634580	-1	no_errors	ENST00000358835	ensembl	human	known	70_37	missense	SNP	1.000	G
REXO2	25996	genome.wustl.edu	37	11	114315254	114315254	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:114315254C>G	ENST00000265881.5	+	4	452				REXO2_ENST00000539275.1_Intron|REXO2_ENST00000538791.1_Missense_Mutation_p.L11V|REXO2_ENST00000539754.1_Intron	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2						nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleobase-containing compound metabolic process (GO:0006139)|nucleotide metabolic process (GO:0009117)	focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|nucleic acid binding (GO:0003676)			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		TGGGGATTCTCTCTTGCAGTC	0.428																																																	0													67.0	62.0	63.0					11																	114315254		2201	4296	6497	SO:0001627	intron_variant	25996			AF151872	CCDS8371.1	11q23.2	2013-06-10	2013-06-10		ENSG00000076043	ENSG00000076043			17851	protein-coding gene	gene with protein product		607149	"""REX2, RNA exonuclease 2 homolog (S. cerevisiae)"""			10851236, 10810093, 23741365	Standard	NM_015523		Approved	DKFZP566E144, SFN, CGI-114	uc001poy.3	Q9Y3B8	OTTHUMG00000168271	ENST00000265881.5:c.310-9C>G	11.37:g.114315254C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R532|Q32Q18|Q53FT1|Q6FIC6|Q9UFY7	Missense_Mutation	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L11V	ENST00000265881.5	37	c.31	CCDS8371.1	11	.	.	.	.	.	.	.	.	.	.	C	10.47	1.360036	0.24598	.	.	ENSG00000076043	ENST00000538791	.	.	.	5.67	4.74	0.60224	.	.	.	.	.	T	0.37517	0.1006	.	.	.	0.20873	N	0.999835	.	.	.	.	.	.	T	0.18241	-1.0343	4	.	.	.	.	8.7294	0.34489	0.0:0.7077:0.1982:0.0941	.	.	.	.	V	11	.	.	L	+	1	0	REXO2	113820464	0.989000	0.36119	1.000000	0.80357	0.997000	0.91878	0.055000	0.14229	2.697000	0.92050	0.655000	0.94253	CTC	REXO2	-	smart_Exonuclease		0.428	REXO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO2	HGNC	protein_coding	OTTHUMT00000399087.1	C	NM_015523		114315254	+1	no_errors	ENST00000538791	ensembl	human	putative	70_37	missense	SNP	1.000	G
RFC5	5985	genome.wustl.edu	37	12	118469182	118469182	+	3'UTR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:118469182C>G	ENST00000454402.2	+	0	1240				RFC5_ENST00000392542.2_3'UTR|RFC5_ENST00000543153.1_3'UTR|RFC5_ENST00000229043.3_3'UTR	NM_001206801.1|NM_007370.5	NP_001193730.1|NP_031396.1	P40937	RFC5_HUMAN	replication factor C (activator 1) 5, 36.5kDa						DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	DNA replication factor C complex (GO:0005663)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGATGAATCAGTCACCCCG	0.493																																																	0																																										SO:0001624	3_prime_UTR_variant	5985				CCDS9185.1, CCDS41843.2	12q24.3	2010-04-21	2002-08-29		ENSG00000111445	ENSG00000111445		"""ATPases / AAA-type"""	9973	protein-coding gene	gene with protein product		600407	"""replication factor C (activator 1) 5 (36.5kD)"""			7774928	Standard	NM_007370		Approved	RFC36	uc001twq.3	P40937	OTTHUMG00000156438	ENST00000454402.2:c.*99C>G	12.37:g.118469182C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZ62|B3KSX8	RNA	SNP	-	NULL	ENST00000454402.2	37	NULL	CCDS9185.1	12																																																																																			RFC5	-	-		0.493	RFC5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFC5	HGNC	protein_coding	OTTHUMT00000344196.2	C	NM_007370		118469182	+1	no_errors	ENST00000543153	ensembl	human	known	70_37	rna	SNP	0.000	G
RFPL4B	442247	genome.wustl.edu	37	6	112671250	112671250	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:112671250C>G	ENST00000441065.2	+	3	652	c.340C>G	c.(340-342)Cta>Gta	p.L114V	RP11-506B6.6_ENST00000590673.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000585611.1_RNA	NM_001013734.2	NP_001013756.2	Q6ZWI9	RFPLB_HUMAN	ret finger protein-like 4B	114	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.						zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CTCCAATGATCTAAGAAGCGC	0.552																																																	0													66.0	67.0	67.0					6																	112671250		2203	4300	6503	SO:0001583	missense	442247			AK122906	CCDS34515.1	6q21	2007-04-24			ENSG00000251258	ENSG00000251258		"""RING-type (C3HC4) zinc fingers"""	33264	protein-coding gene	gene with protein product							Standard	NM_001013734		Approved	RNF211	uc003pvx.1	Q6ZWI9	OTTHUMG00000015390	ENST00000441065.2:c.340C>G	6.37:g.112671250C>G	ENSP00000423391:p.Leu114Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU91	Missense_Mutation	SNP	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.L114V	ENST00000441065.2	37	c.340	CCDS34515.1	6	.	.	.	.	.	.	.	.	.	.	C	10.89	1.479616	0.26511	.	.	ENSG00000251258	ENST00000441065	T	0.62639	0.01	4.14	2.32	0.28847	Concanavalin A-like lectin/glucanase (1);SPRY-associated (1);Butyrophylin-like (1);B30.2/SPRY domain (1);	0.400477	0.14851	N	0.294669	T	0.48370	0.1496	M	0.80183	2.485	0.09310	N	1	P	0.47350	0.894	B	0.43950	0.437	T	0.38286	-0.9668	10	0.49607	T	0.09	.	8.0642	0.30651	0.0:0.7906:0.0:0.2094	.	114	Q6ZWI9	RFPLB_HUMAN	V	114	ENSP00000423391:L114V	ENSP00000423391:L114V	L	+	1	2	RFPL4B	112777943	0.000000	0.05858	0.013000	0.15412	0.004000	0.04260	-0.120000	0.10660	0.683000	0.31428	0.655000	0.94253	CTA	RFPL4B	-	superfamily_ConA-like_lec_gl_sf,smart_PRY,pfscan_B30.2/SPRY,prints_Butyrophylin		0.552	RFPL4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFPL4B	HGNC	protein_coding	OTTHUMT00000041885.2	C	NM_001013734		112671250	+1	no_errors	ENST00000441065	ensembl	human	known	70_37	missense	SNP	0.010	G
RFWD2	64326	genome.wustl.edu	37	1	176133017	176133017	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:176133017G>C	ENST00000367669.3	-	4	1090	c.576C>G	c.(574-576)ctC>ctG	p.L192L	RFWD2_ENST00000308769.8_Silent_p.L192L	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	192					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|response to ionizing radiation (GO:0010212)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin protein ligase activity (GO:0061630)|zinc ion binding (GO:0008270)	p.L192L(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTTTAAGAATGAGTTCATTCA	0.284																																					Ovarian(134;1413 1765 5706 35534 51541)												1	Substitution - coding silent(1)	lung(1)											43.0	42.0	42.0					1																	176133017		2203	4296	6499	SO:0001819	synonymous_variant	64326			AK001278	CCDS30944.1, CCDS44279.1	1q25.1-q25.2	2013-01-09	2012-02-23		ENSG00000143207	ENSG00000143207		"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	17440	protein-coding gene	gene with protein product		608067	"""ring finger and WD repeat domain 2"""			10395541	Standard	XM_005245447		Approved	FLJ10416, COP1, RNF200	uc001gku.1	Q8NHY2	OTTHUMG00000034986	ENST00000367669.3:c.576C>G	1.37:g.176133017G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PKI0|Q504W6|Q6H103|Q9H6L7|X5D9B4	Silent	SNP	pfam_WD40_repeat,pfam_Znf_C3HC4_RING-type,superfamily_WD40_repeat_dom,smart_Znf_RING,smart_WD40_repeat,pfscan_Znf_RING,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L192	ENST00000367669.3	37	c.576	CCDS30944.1	1																																																																																			RFWD2	-	NULL		0.284	RFWD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFWD2	HGNC	protein_coding	OTTHUMT00000084672.2	G	NM_022457		176133017	-1	no_errors	ENST00000367669	ensembl	human	known	70_37	silent	SNP	0.993	C
RGPD4	285190	genome.wustl.edu	37	2	108489090	108489090	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:108489090G>A	ENST00000408999.3	+	20	4707	c.4630G>A	c.(4630-4632)Gag>Aag	p.E1544K	RGPD4_ENST00000354986.4_Missense_Mutation_p.E1544K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1544					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						ATTTGGTTCAGAGTCTGTTAA	0.368																																																	0													32.0	27.0	29.0					2																	108489090		691	1578	2269	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.4630G>A	2.37:g.108489090G>A	ENSP00000386810:p.Glu1544Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1544K	ENST00000408999.3	37	c.4630	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	11.62	1.693197	0.30052	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.42900	0.96;0.97	2.33	2.33	0.28932	.	.	.	.	.	T	0.44993	0.1320	M	0.64997	1.995	0.28124	N	0.930487	D	0.53745	0.962	P	0.46885	0.53	T	0.37454	-0.9705	9	0.40728	T	0.16	-28.6723	11.5771	0.50869	0.0:0.0:1.0:0.0	.	1544	Q7Z3J3	RGPD4_HUMAN	K	1544	ENSP00000347081:E1544K;ENSP00000386810:E1544K	ENSP00000347081:E1544K	E	+	1	0	RGPD4	107855522	1.000000	0.71417	0.990000	0.47175	0.197000	0.23852	7.269000	0.78482	1.303000	0.44873	0.162000	0.16502	GAG	RGPD4	-	NULL		0.368	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108489090	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.994	A
RGPD8	727851	genome.wustl.edu	37	2	113146919	113146919	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:113146919C>G	ENST00000302558.3	-	20	3794	c.3603G>C	c.(3601-3603)ctG>ctC	p.L1201L	RGPD8_ENST00000409750.1_Silent_p.L1061L	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1201					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TGAAATCTTTCAGTCCACTCT	0.413																																																	0													1.0	1.0	1.0					2																	113146919		1	3	4	SO:0001819	synonymous_variant	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3603G>C	2.37:g.113146919C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5CZA8	Silent	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.L1201	ENST00000302558.3	37	c.3603	CCDS46394.1	2																																																																																			RGPD8	-	NULL		0.413	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	C	XM_001722279		113146919	-1	no_errors	ENST00000302558	ensembl	human	known	70_37	silent	SNP	0.997	G
RGPD8	727851	genome.wustl.edu	37	2	113147110	113147110	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:113147110C>T	ENST00000302558.3	-	20	3603	c.3412G>A	c.(3412-3414)Gat>Aat	p.D1138N	RGPD8_ENST00000409750.1_Missense_Mutation_p.D998N	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1138	RanBD1 1. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GCATCACCATCAGAGAAATCA	0.448																																																	0													18.0	15.0	16.0					2																	113147110		691	1578	2269	SO:0001583	missense	727851			AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.3412G>A	2.37:g.113147110C>T	ENSP00000306637:p.Asp1138Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5CZA8	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.D1138N	ENST00000302558.3	37	c.3412	CCDS46394.1	2	.	.	.	.	.	.	.	.	.	.	-	12.84	2.057142	0.36277	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.54279	0.58;0.58	2.3	2.3	0.28687	Pleckstrin homology-type (1);Ran binding protein 1 (3);	.	.	.	.	T	0.67664	0.2917	M	0.74389	2.26	0.80722	D	1	P	0.52170	0.951	D	0.67548	0.952	T	0.69793	-0.5049	9	0.59425	D	0.04	-27.2675	10.3508	0.43934	0.0:1.0:0.0:0.0	.	1138	O14715	RGPD8_HUMAN	N	1138;998	ENSP00000306637:D1138N;ENSP00000386511:D998N	ENSP00000306637:D1138N	D	-	1	0	RGPD8	112863581	1.000000	0.71417	0.999000	0.59377	0.408000	0.30992	7.554000	0.82212	1.299000	0.44798	0.152000	0.16155	GAT	RGPD8	-	pfam_Ran_bind_dom,smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.448	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	RGPD8	HGNC	protein_coding	OTTHUMT00000375951.1	C	XM_001722279		113147110	-1	no_errors	ENST00000302558	ensembl	human	known	70_37	missense	SNP	1.000	T
RGS20	8601	genome.wustl.edu	37	8	54870854	54870854	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:54870854G>C	ENST00000297313.3	+	6	1095	c.1003G>C	c.(1003-1005)Gaa>Caa	p.E335Q	RGS20_ENST00000522225.1_Missense_Mutation_p.E69Q|RGS20_ENST00000276500.4_Missense_Mutation_p.E188Q|RGS20_ENST00000344277.6_Missense_Mutation_p.E220Q|RGS20_ENST00000517405.1_3'UTR	NM_170587.2	NP_733466.1	O76081	RGS20_HUMAN	regulator of G-protein signaling 20	335	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(7;1.37e-06)|Epithelial(17;0.000126)|all cancers(17;0.0009)			CCGGGTGAGAGAAGTGATCAA	0.463																																																	0													143.0	120.0	128.0					8																	54870854		2203	4300	6503	SO:0001583	missense	8601			AF074979	CCDS6155.1, CCDS6156.1, CCDS69482.1	8q11.23	2008-07-25	2007-08-14		ENSG00000147509	ENSG00000147509		"""Regulators of G-protein signaling"""	14600	protein-coding gene	gene with protein product		607193	"""regulator of G-protein signalling 20"""			9748279, 9748280	Standard	NM_003702		Approved	RGSZ1, ZGAP1	uc003xrp.3	O76081	OTTHUMG00000164750	ENST00000297313.3:c.1003G>C	8.37:g.54870854G>C	ENSP00000297313:p.Glu335Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96BG9	Missense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.E335Q	ENST00000297313.3	37	c.1003	CCDS6155.1	8	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763538	0.89932	.	.	ENSG00000147509	ENST00000297313;ENST00000344277;ENST00000522225;ENST00000276500	T;T;T;T	0.02067	4.47;4.47;4.47;4.47	5.07	5.07	0.68467	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.046403	0.85682	D	0.000000	T	0.11452	0.0279	M	0.75884	2.315	0.80722	D	1	P;P;P;P;D	0.54772	0.846;0.846;0.918;0.918;0.968	P;P;P;P;P	0.60012	0.684;0.777;0.867;0.81;0.866	T	0.00538	-1.1682	10	0.62326	D	0.03	.	18.4535	0.90712	0.0:0.0:1.0:0.0	.	99;127;188;220;335	O76081-4;O76081-3;O76081-6;O76081-2;O76081	.;.;.;.;RGS20_HUMAN	Q	335;220;69;188	ENSP00000297313:E335Q;ENSP00000344630:E220Q;ENSP00000430627:E69Q;ENSP00000276500:E188Q	ENSP00000276500:E188Q	E	+	1	0	RGS20	55033407	1.000000	0.71417	0.970000	0.41538	0.618000	0.37518	9.747000	0.98863	2.325000	0.78763	0.557000	0.71058	GAA	RGS20	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.463	RGS20-001	KNOWN	basic|CCDS	protein_coding	RGS20	HGNC	protein_coding	OTTHUMT00000380058.1	G			54870854	+1	no_errors	ENST00000297313	ensembl	human	known	70_37	missense	SNP	1.000	C
RGS22	26166	genome.wustl.edu	37	8	101084453	101084453	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:101084453G>C	ENST00000360863.6	-	5	539	c.345C>G	c.(343-345)ctC>ctG	p.L115L	RGS22_ENST00000523437.1_Silent_p.L115L|RGS22_ENST00000523287.1_Intron	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	115					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CTTCACGACTGAGACACTATG	0.353																																																	0													89.0	80.0	82.0					8																	101084453		1810	4081	5891	SO:0001819	synonymous_variant	26166			AY009106	CCDS43758.1, CCDS69521.1, CCDS75775.1	8q22.2	2014-01-21	2007-08-14		ENSG00000132554	ENSG00000132554		"""Regulators of G-protein signaling"""	24499	protein-coding gene	gene with protein product		615650	"""regulator of G-protein signalling 22"""				Standard	XM_005250856		Approved	DKFZP434I092, PRTD-NY2, CT145	uc003yjb.1	Q8NE09	OTTHUMG00000164802	ENST00000360863.6:c.345C>G	8.37:g.101084453G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K944|Q569L2|Q86Y71|Q9BYZ4|Q9UFN6	Silent	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal	p.L115	ENST00000360863.6	37	c.345	CCDS43758.1	8																																																																																			RGS22	-	NULL		0.353	RGS22-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGS22	HGNC	protein_coding	OTTHUMT00000380365.1	G	NM_015668		101084453	-1	no_errors	ENST00000360863	ensembl	human	known	70_37	silent	SNP	0.985	C
RGS4	5999	genome.wustl.edu	37	1	163044339	163044339	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:163044339C>T	ENST00000367909.6	+	5	947	c.607C>T	c.(607-609)Cag>Tag	p.Q203*	RGS4_ENST00000527809.1_Nonsense_Mutation_p.Q185*|RGS4_ENST00000367906.3_Nonsense_Mutation_p.Q185*|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000421743.2_Nonsense_Mutation_p.Q300*	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	203					inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						CCTGGTCCCTCAGTGTGCCTA	0.488																																					Ovarian(76;1257 1738 3039 6086)												0													105.0	112.0	110.0					1																	163044339		2203	4300	6503	SO:0001587	stop_gained	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.607C>T	1.37:g.163044339C>T	ENSP00000356885:p.Gln203*	Somatic		WXS	Illumina HiSeq	Phase_IV	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	Nonsense_Mutation	SNP	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal,prints_Regulat_G_prot_signal	p.Q300*	ENST00000367909.6	37	c.898	CCDS1243.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.640552	0.97726	.	.	ENSG00000117152	ENST00000421743;ENST00000367909;ENST00000527809;ENST00000367906	.	.	.	5.11	4.19	0.49359	.	2.691420	0.00763	N	0.001144	.	.	.	.	.	.	0.33170	D	0.548129	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	13.3712	0.60713	0.0:0.8408:0.1592:0.0	.	.	.	.	X	300;203;185;185	.	ENSP00000356882:Q185X	Q	+	1	0	RGS4	161310963	0.973000	0.33851	0.997000	0.53966	0.929000	0.56500	3.212000	0.51145	1.350000	0.45770	0.655000	0.94253	CAG	RGS4	-	NULL		0.488	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	C	NM_005613		163044339	+1	no_errors	ENST00000421743	ensembl	human	known	70_37	nonsense	SNP	0.926	T
RHCE	6006	genome.wustl.edu	37	1	25715555	25715555	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:25715555G>T	ENST00000294413.7	-	6	909	c.851C>A	c.(850-852)tCg>tAg	p.S284*	RHCE_ENST00000349438.4_Nonsense_Mutation_p.S284*|RHCE_ENST00000455194.1_Nonsense_Mutation_p.S179*|RHCE_ENST00000413854.1_Nonsense_Mutation_p.S284*|RHCE_ENST00000340849.4_Nonsense_Mutation_p.S179*|RHCE_ENST00000425135.1_Intron|RHCE_ENST00000243186.6_Nonsense_Mutation_p.S284*|RHCE_ENST00000349320.3_Nonsense_Mutation_p.S268*|RHCE_ENST00000374352.2_Nonsense_Mutation_p.S268*|RHCE_ENST00000346452.4_Intron	NM_020485.4	NP_065231	P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	284						integral component of plasma membrane (GO:0005887)	ammonium transmembrane transporter activity (GO:0008519)			endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGTGACACGAGGTACCCAC	0.567																																																	0													83.0	64.0	70.0					1																	25715555		2203	4297	6500	SO:0001587	stop_gained	6006			BC075081	CCDS30634.1, CCDS30635.1, CCDS30636.1, CCDS30637.1	1p36.11	2014-09-17	2006-02-23		ENSG00000188672	ENSG00000188672		"""CD molecules"", ""Blood group antigens"""	10008	protein-coding gene	gene with protein product		111700	"""Rhesus blood group, CcEe antigens"""	RH		8220426	Standard	NM_138618		Approved	CD240CE	uc001bkf.3	P18577	OTTHUMG00000007650	ENST00000294413.7:c.851C>A	1.37:g.25715555G>T	ENSP00000294413:p.Ser284*	Somatic		WXS	Illumina HiSeq	Phase_IV	A7DW68|B7UDF3|B7UDF4|B7UDF5|B7UDF6|B7UDF7|B7UDF8|B7UDF9|B7UDG0|B7UDG1|B7UDG2|B7UDG3|Q02163|Q02164|Q02165|Q16160|Q2MJW0|Q2VC86|Q3LTM6|Q6AZX5|Q6J2U3|Q7RU06|Q8IZT2|Q8IZT3|Q8IZT4|Q8IZT5|Q9UD13|Q9UD14|Q9UD15|Q9UD16|Q9UD73|Q9UD74|Q9UEC2|Q9UEC3|Q9UPN0	Nonsense_Mutation	SNP	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD	p.S284*	ENST00000294413.7	37	c.851	CCDS30635.1	1	.	.	.	.	.	.	.	.	.	.	g	12.30	1.896694	0.33535	.	.	ENSG00000188672	ENST00000413854;ENST00000539650;ENST00000455194;ENST00000374352;ENST00000243186;ENST00000340849;ENST00000349320;ENST00000294413;ENST00000447203;ENST00000349438	.	.	.	4.91	3.94	0.45596	.	0.638871	0.16474	N	0.212821	.	.	.	.	.	.	0.20403	N	0.999902	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.3469	11.7485	0.51835	0.0:0.1785:0.8215:0.0	.	.	.	.	X	284;226;179;268;284;179;268;284;284;284	.	ENSP00000243186:S284X	S	-	2	0	RHCE	25588142	0.471000	0.25862	0.004000	0.12327	0.006000	0.05464	4.502000	0.60400	2.432000	0.82394	0.591000	0.81541	TCG	RHCE	-	pfam_NH4_transpt_AmtB-like,superfamily_NH4_transpt_AmtB-like,prints_RhesusRHD		0.567	RHCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHCE	HGNC	protein_coding	OTTHUMT00000020312.2	G	NM_020485		25715555	-1	no_errors	ENST00000294413	ensembl	human	known	70_37	nonsense	SNP	0.002	T
RGS4	5999	genome.wustl.edu	37	1	163045932	163045932	+	3'UTR	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:163045932G>T	ENST00000367909.6	+	0	2540				RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000421743.2_3'UTR	NM_001113380.1|NM_005613.5	NP_001106851.1|NP_005604.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4						inactivation of MAPK activity (GO:0000188)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TGAATGCCCAGGAAGTAATTT	0.318																																					Ovarian(76;1257 1738 3039 6086)												0																																										SO:0001624	3_prime_UTR_variant	5999			BC051869	CCDS1243.1, CCDS44270.1, CCDS44271.1, CCDS44272.1	1q23.3	2008-05-14	2007-08-14		ENSG00000117152	ENSG00000117152		"""Regulators of G-protein signaling"""	10000	protein-coding gene	gene with protein product		602516	"""regulator of G-protein signalling 4"", ""schizophrenia disorder 9"""	SCZD9		8602223, 8756726	Standard	NM_001102445		Approved		uc001gcl.4	P49798	OTTHUMG00000034417	ENST00000367909.6:c.*1582G>T	1.37:g.163045932G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7XA56|A7XA58|A7XA59|A7YVV7|B1APZ3	RNA	SNP	-	NULL	ENST00000367909.6	37	NULL	CCDS1243.1	1																																																																																			RGS4	-	-		0.318	RGS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGS4	HGNC	protein_coding	OTTHUMT00000083197.2	G	NM_005613		163045932	+1	no_errors	ENST00000491263	ensembl	human	known	70_37	rna	SNP	1.000	T
RIC8A	60626	genome.wustl.edu	37	11	213324	213324	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:213324G>T	ENST00000526104.1	+	9	2725	c.1381G>T	c.(1381-1383)Gag>Tag	p.E461*	RIC8A_ENST00000325207.5_Nonsense_Mutation_p.E467*|RIC8A_ENST00000527696.1_Nonsense_Mutation_p.E455*			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	461					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGGAGGGTGGAGGAGAAGCC	0.557																																																	0													106.0	78.0	88.0					11																	213324		2203	4300	6503	SO:0001587	stop_gained	60626			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.1381G>T	11.37:g.213324G>T	ENSP00000432008:p.Glu461*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	Nonsense_Mutation	SNP	pfam_Gua_nucleotide_exch_fac_Ric8,superfamily_ARM-type_fold,prints_Synembryn	p.E467*	ENST00000526104.1	37	c.1399		11	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	35|35|35	5.463545|5.463545|5.463545	0.96257|0.96257|0.96257	.|.|.	.|.|.	ENSG00000177963|ENSG00000177963|ENSG00000177963	ENST00000526104;ENST00000325207;ENST00000527696|ENST00000524854|ENST00000529275	.|.|.	.|.|.	.|.|.	5.03|5.03|5.03	5.03|5.03|5.03	0.67393|0.67393|0.67393	.|.|.	0.051899|.|.	0.85682|.|.	D|.|.	0.000000|.|.	.|T|T	.|0.74268|0.74268	.|0.3694|0.3694	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	A|A|A	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|T|T	.|0.72786|0.72786	.|-0.4188|-0.4188	.|3|3	0.52906|.|.	T|.|.	0.07|.|.	-23.4254|-23.4254|-23.4254	18.2202|18.2202|18.2202	0.89899|0.89899|0.89899	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.|.	.|.|.	.|.|.	.|.|.	X|V|C	461;467;455|68|46	.|.|.	ENSP00000325941:E467X|.|.	E|G|W	+|+|+	1|2|3	0|0|0	RIC8A|RIC8A|RIC8A	203324|203324|203324	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.996000|0.996000|0.996000	0.88848|0.88848|0.88848	7.817000|7.817000|7.817000	0.86213|0.86213|0.86213	2.727000|2.727000|2.727000	0.93392|0.93392|0.93392	0.561000|0.561000|0.561000	0.74099|0.74099|0.74099	GAG|GGA|TGG	RIC8A	-	pfam_Gua_nucleotide_exch_fac_Ric8		0.557	RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	RIC8A	HGNC	protein_coding	OTTHUMT00000384761.1	G	NM_021932		213324	+1	no_errors	ENST00000325207	ensembl	human	known	70_37	nonsense	SNP	1.000	T
RICTOR	253260	genome.wustl.edu	37	5	38975684	38975684	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:38975684G>C	ENST00000357387.3	-	10	874	c.844C>G	c.(844-846)Cta>Gta	p.L282V	RICTOR_ENST00000296782.5_Missense_Mutation_p.L282V	NM_152756.3	NP_689969.2			RPTOR independent companion of MTOR, complex 2											NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					TTACTGGCTAGAAATCGTGCT	0.403																																																	0													88.0	87.0	87.0					5																	38975684		2203	4300	6503	SO:0001583	missense	253260				CCDS34148.1, CCDS68861.1	5p13.1	2009-07-09			ENSG00000164327	ENSG00000164327			28611	protein-coding gene	gene with protein product	"""rapamycin-insensitive companion of mTOR"", ""pianissimo"""	609022				12477932	Standard	XM_005248278		Approved	MGC39830, AVO3, PIA, KIAA1999	uc003jlp.2	Q6R327	OTTHUMG00000162037	ENST00000357387.3:c.844C>G	5.37:g.38975684G>C	ENSP00000349959:p.Leu282Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_ARM-type_fold	p.L282V	ENST00000357387.3	37	c.844	CCDS34148.1	5	.	.	.	.	.	.	.	.	.	.	G	15.69	2.907366	0.52333	.	.	ENSG00000164327	ENST00000357387;ENST00000296782	T;T	0.47528	0.84;0.84	5.93	4.97	0.65823	Armadillo-type fold (1);	0.070696	0.64402	D	0.000018	T	0.41858	0.1177	L	0.40543	1.245	0.45946	D	0.998774	P;B;P	0.39847	0.493;0.03;0.691	B;B;B	0.38500	0.116;0.028;0.275	T	0.42682	-0.9437	10	0.87932	D	0	-9.7536	13.7824	0.63089	0.0786:0.0:0.9214:0.0	.	282;282;282	E7ETT0;Q6R327;Q6R327-3	.;RICTR_HUMAN;.	V	282	ENSP00000349959:L282V;ENSP00000296782:L282V	ENSP00000296782:L282V	L	-	1	2	RICTOR	39011441	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.616000	0.46376	1.353000	0.45828	0.555000	0.69702	CTA	RICTOR	-	superfamily_ARM-type_fold		0.403	RICTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RICTOR	HGNC	protein_coding	OTTHUMT00000366985.1	G	NM_152756		38975684	-1	no_errors	ENST00000296782	ensembl	human	known	70_37	missense	SNP	1.000	C
RIMS1	22999	genome.wustl.edu	37	6	72922844	72922844	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:72922844C>T	ENST00000521978.1	+	7	1678				RIMS1_ENST00000491071.2_Intron|RIMS1_ENST00000520567.1_Intron|RIMS1_ENST00000401910.3_Missense_Mutation_p.H7Y|RIMS1_ENST00000517960.1_Intron|RIMS1_ENST00000348717.5_Intron|RIMS1_ENST00000264839.7_Intron|RIMS1_ENST00000518273.1_Intron|RIMS1_ENST00000523963.1_Missense_Mutation_p.H7Y|RIMS1_ENST00000522291.1_Intron	NM_014989.5	NP_055804.2	Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1						calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|glutamate secretion (GO:0014047)|intracellular protein transport (GO:0006886)|membrane fusion (GO:0061025)|neurotransmitter secretion (GO:0007269)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|protein complex assembly (GO:0006461)|regulated secretory pathway (GO:0045055)|regulation of catalytic activity (GO:0050790)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of neurotransmitter secretion (GO:0046928)|response to stimulus (GO:0050896)|secretion (GO:0046903)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|visual perception (GO:0007601)	cell junction (GO:0030054)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)|small GTPase regulator activity (GO:0005083)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ACCTGGGATTCATGTCTCTTC	0.443																																																	0													239.0	200.0	212.0					6																	72922844		692	1591	2283	SO:0001627	intron_variant	22999			AB002338	CCDS47449.1, CCDS55029.1, CCDS55030.1, CCDS55031.1, CCDS55032.1, CCDS55033.1	6q12-q13	2008-10-16	2002-06-12	2002-06-14	ENSG00000079841	ENSG00000079841			17282	protein-coding gene	gene with protein product	"""Rab3-interacting molecule"""	606629	"""RAB3 interacting protein 2"""	RAB3IP2, CORD7		9205841, 11438518	Standard	NM_001168407		Approved	RIM, KIAA0340, RIM1	uc003pga.4	Q86UR5	OTTHUMG00000015009	ENST00000521978.1:c.1679-20632C>T	6.37:g.72922844C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN6|B7Z2M0|B7Z2Q9|B7Z3S3|B7Z6S2|E7EX08|E9PCB7|E9PCZ1|E9PF48|E9PHF5|E9PHR1|O15048|Q5JY21|Q5JY25|Q5SZK1|Q8TDY9|Q8TDZ5|Q9HBA1|Q9HBA2|Q9HBA3|Q9HBA4|Q9HBA5|Q9HBA6	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.H7Y	ENST00000521978.1	37	c.19	CCDS47449.1	6	.	.	.	.	.	.	.	.	.	.	C	11.94	1.787928	0.31593	.	.	ENSG00000079841	ENST00000401910;ENST00000523963	T;T	0.12361	2.7;2.69	6.04	5.07	0.68467	.	.	.	.	.	T	0.02610	0.0079	N	0.08118	0	0.31926	N	0.612836	B;B	0.25272	0.122;0.037	B;B	0.14578	0.011;0.004	T	0.32613	-0.9900	9	0.87932	D	0	.	7.1125	0.25399	0.0:0.8638:0.0:0.1362	.	7;7	E9PHF5;E9PF48	.;.	Y	7	ENSP00000385649:H7Y;ENSP00000428328:H7Y	ENSP00000385649:H7Y	H	+	1	0	RIMS1	72979565	0.017000	0.18338	0.049000	0.19019	0.906000	0.53458	1.394000	0.34509	2.873000	0.98535	0.561000	0.74099	CAT	RIMS1	-	NULL		0.443	RIMS1-011	KNOWN	basic|appris_principal|CCDS	protein_coding	RIMS1	HGNC	protein_coding	OTTHUMT00000374968.1	C			72922844	+1	no_errors	ENST00000401910	ensembl	human	putative	70_37	missense	SNP	0.049	T
RIT1	6016	genome.wustl.edu	37	1	155880451	155880451	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155880451C>G	ENST00000368323.3	-	2	306	c.102G>C	c.(100-102)aaG>aaC	p.K34N	RIT1_ENST00000368322.3_Missense_Mutation_p.K51N|RIT1_ENST00000539040.1_Intron	NM_006912.5	NP_008843.1	Q92963	RIT1_HUMAN	Ras-like without CAAX 1	34					GTP catabolic process (GO:0006184)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTP binding (GO:0005525)			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			ACCTACCACTCTTCCCTACAC	0.463																																																	0													147.0	150.0	149.0					1																	155880451		2203	4300	6503	SO:0001583	missense	6016			AF084462	CCDS1123.1, CCDS58037.1, CCDS58036.1	1q21.2	2014-05-09	2002-09-11	2002-09-13	ENSG00000143622	ENSG00000143622			10023	protein-coding gene	gene with protein product	"""Ric-like, expressed in many tissues"", ""GTP-binding protein Roc1"""	609591	"""Ric (Drosophila)-like, expressed in many tissues"""	RIT		8824319, 8918462	Standard	NM_006912		Approved	RIBB, ROC1, MGC125864, MGC125865	uc031pqc.1	Q92963	OTTHUMG00000014104	ENST00000368323.3:c.102G>C	1.37:g.155880451C>G	ENSP00000357306:p.Lys34Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQE8|O00646|O00720|Q5VY89|Q5VY90	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K34N	ENST00000368323.3	37	c.102	CCDS1123.1	1	.	.	.	.	.	.	.	.	.	.	C	27.1	4.802052	0.90538	.	.	ENSG00000143622	ENST00000368323;ENST00000368322	D;D	0.96913	-4.17;-4.17	4.7	-3.71	0.04424	Small GTP-binding protein domain (1);	0.000000	0.64402	D	0.000004	D	0.98346	0.9451	H	0.97852	4.09	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98808	1.0742	10	0.87932	D	0	.	14.037	0.64651	0.0:0.7541:0.0:0.2459	.	34	Q92963	RIT1_HUMAN	N	34;51	ENSP00000357306:K34N;ENSP00000357305:K51N	ENSP00000357305:K51N	K	-	3	2	RIT1	154147075	0.764000	0.28473	0.623000	0.29173	0.590000	0.36582	-0.599000	0.05700	-0.550000	0.06183	0.555000	0.69702	AAG	RIT1	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.463	RIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RIT1	HGNC	protein_coding	OTTHUMT00000039593.1	C	NM_006912		155880451	-1	no_errors	ENST00000368323	ensembl	human	known	70_37	missense	SNP	0.910	G
RNASE12	493901	genome.wustl.edu	37	14	21058829	21058829	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:21058829C>T	ENST00000556526.1	-	1	153	c.54G>A	c.(52-54)gtG>gtA	p.V18V	RNASE11_ENST00000398008.2_5'Flank|RP11-14J7.6_ENST00000556487.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RP11-14J7.6_ENST00000554006.1_RNA|RNASE11_ENST00000555841.1_5'Flank|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000554993.1_RNA|RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000555283.1_Silent_p.V18V|RNASE11_ENST00000553849.1_5'Flank|RP11-14J7.6_ENST00000554529.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	18						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		CTTCATCATTCACCTCATTTT	0.428																																																	0													156.0	141.0	146.0					14																	21058829		2203	4300	6503	SO:0001819	synonymous_variant	493901				CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.54G>A	14.37:g.21058829C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_RNaseA_domain,superfamily_RNaseA_domain,smart_RNaseA_domain,prints_RNaseA	p.V18	ENST00000556526.1	37	c.54	CCDS32037.1	14																																																																																			RNASE12	-	NULL		0.428	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNASE12	Uniprot_genename	protein_coding	OTTHUMT00000411107.1	C			21058829	-1	no_errors	ENST00000382999	ensembl	human	known	70_37	silent	SNP	0.000	T
RNF125	54941	genome.wustl.edu	37	18	29622159	29622159	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:29622159G>T	ENST00000217740.3	+	3	828	c.336G>T	c.(334-336)atG>atT	p.M112I	RNF125_ENST00000583384.1_3'UTR|RP11-53I6.2_ENST00000583184.1_RNA	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	112					innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)		ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCAGTGAAATGAGGGCACATA	0.363																																																	0													77.0	72.0	74.0					18																	29622159		2203	4300	6503	SO:0001583	missense	54941			AK000463	CCDS11902.1	18q12.1	2013-01-09	2012-02-23		ENSG00000101695	ENSG00000101695		"""RING-type (C3HC4) zinc fingers"""	21150	protein-coding gene	gene with protein product		610432	"""ring finger protein 125"""				Standard	NM_017831		Approved	FLJ20456	uc002kxf.1	Q96EQ8	OTTHUMG00000132266	ENST00000217740.3:c.336G>T	18.37:g.29622159G>T	ENSP00000217740:p.Met112Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NX39	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.M112I	ENST00000217740.3	37	c.336	CCDS11902.1	18	.	.	.	.	.	.	.	.	.	.	G	20.4	3.977872	0.74360	.	.	ENSG00000101695	ENST00000217740	D	0.82433	-1.61	5.45	5.45	0.79879	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.64402	D	0.000001	D	0.86924	0.6050	L	0.52206	1.635	0.41560	D	0.988627	P	0.45126	0.851	P	0.58391	0.838	D	0.83861	0.0268	10	0.26408	T	0.33	-3.6811	16.5557	0.84484	0.0:0.0:1.0:0.0	.	112	Q96EQ8	RN125_HUMAN	I	112	ENSP00000217740:M112I	ENSP00000217740:M112I	M	+	3	0	RNF125	27876157	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.059000	0.64306	2.720000	0.93068	0.563000	0.77884	ATG	RNF125	-	NULL		0.363	RNF125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF125	HGNC	protein_coding	OTTHUMT00000255354.1	G	NM_017831		29622159	+1	no_errors	ENST00000217740	ensembl	human	known	70_37	missense	SNP	1.000	T
RNF146	81847	genome.wustl.edu	37	6	127608657	127608657	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:127608657C>G	ENST00000368314.1	+	3	1323	c.899C>G	c.(898-900)tCt>tGt	p.S300C	RNF146_ENST00000608991.1_Missense_Mutation_p.S299C|RNF146_ENST00000610153.1_Missense_Mutation_p.S300C|ECHDC1_ENST00000488087.1_5'Flank|RNF146_ENST00000309649.3_Missense_Mutation_p.S299C|RNF146_ENST00000356799.2_3'UTR	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	300					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein autoubiquitination (GO:0051865)|protein K48-linked ubiquitination (GO:0070936)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|poly-ADP-D-ribose binding (GO:0072572)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		GAGGATGTATCTGCAGTTGTT	0.468																																																	0													165.0	155.0	158.0					6																	127608657		2203	4300	6503	SO:0001583	missense	81847			AK027558	CCDS5136.1, CCDS56449.1	6q22.1-q22.33	2008-02-05			ENSG00000118518	ENSG00000118518		"""RING-type (C3HC4) zinc fingers"""	21336	protein-coding gene	gene with protein product		612137					Standard	NM_001242844		Approved	DKFZp434O1427, dactylidin, dJ351K20.1	uc021zes.1	Q9NTX7	OTTHUMG00000015522	ENST00000368314.1:c.899C>G	6.37:g.127608657C>G	ENSP00000357297:p.Ser300Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P572|Q6FIB2|Q7L8H4|Q96K03|Q96T06|Q9NTX6	Missense_Mutation	SNP	pfam_WWE-dom,smart_Znf_RING,smart_WWE-dom_subgr,pfscan_WWE-dom,pfscan_Znf_RING	p.S300C	ENST00000368314.1	37	c.899	CCDS56449.1	6	.	.	.	.	.	.	.	.	.	.	C	5.139	0.211287	0.09757	.	.	ENSG00000118518	ENST00000368314;ENST00000356799;ENST00000309649	T;T;T	0.25085	1.82;1.82;1.82	5.41	5.41	0.78517	.	0.449748	0.23141	N	0.051463	T	0.11367	0.0277	N	0.22421	0.69	0.26750	N	0.970228	P	0.39131	0.661	B	0.36186	0.219	T	0.11792	-1.0573	10	0.66056	D	0.02	-2.5635	19.4119	0.94677	0.0:1.0:0.0:0.0	.	300	Q9NTX7	RN146_HUMAN	C	300;299;299	ENSP00000357297:S300C;ENSP00000349253:S299C;ENSP00000309365:S299C	ENSP00000309365:S299C	S	+	2	0	RNF146	127650350	1.000000	0.71417	0.780000	0.31762	0.183000	0.23260	3.653000	0.54446	2.824000	0.97209	0.650000	0.86243	TCT	RNF146	-	NULL		0.468	RNF146-001	KNOWN	basic|CCDS	protein_coding	RNF146	HGNC	protein_coding	OTTHUMT00000042112.1	C	NM_030963		127608657	+1	no_errors	ENST00000368314	ensembl	human	known	70_37	missense	SNP	0.970	G
RNF151	146310	genome.wustl.edu	37	16	2018792	2018792	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2018792G>A	ENST00000569714.1	+	4	612	c.604G>A	c.(604-606)Gag>Aag	p.E202K	RNF151_ENST00000321392.3_Missense_Mutation_p.E201K|RNF151_ENST00000569210.2_3'UTR	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	202					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2						AGAGCTGGCGGAGCTCAGCAA	0.682																																																	0													9.0	11.0	10.0					16																	2018792		2091	4199	6290	SO:0001583	missense	146310			BC029501	CCDS58405.1	16p13.3	2013-01-09			ENSG00000179580	ENSG00000179580		"""RING-type (C3HC4) zinc fingers"""	23235	protein-coding gene	gene with protein product						12477932	Standard	NM_174903		Approved		uc002cnt.1	Q2KHN1	OTTHUMG00000176852	ENST00000569714.1:c.604G>A	16.37:g.2018792G>A	ENSP00000456566:p.Glu202Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NHS5	Missense_Mutation	SNP	pfam_Ubox_domain,pfam_Znf_C3HC4_RING-type,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH,pfscan_Znf_TRAF	p.E202K	ENST00000569714.1	37	c.604	CCDS58405.1	16	.	.	.	.	.	.	.	.	.	.	g	10.04	1.240758	0.22711	.	.	ENSG00000179580	ENST00000321392	T	0.21361	2.01	5.13	4.17	0.49024	TRAF-like (1);	13.988100	0.00166	U	0.000011	T	0.14013	0.0339	N	0.14661	0.345	0.23023	N	0.99842	B	0.22480	0.07	B	0.12156	0.007	T	0.32214	-0.9915	10	0.02654	T	1	-19.3928	11.5105	0.50490	0.0:0.8078:0.1922:0.0	.	202	Q2KHN1	RN151_HUMAN	K	201	ENSP00000325794:E201K	ENSP00000325794:E201K	E	+	1	0	RNF151	1958793	0.520000	0.26250	0.980000	0.43619	0.019000	0.09904	0.781000	0.26774	1.161000	0.42604	-0.165000	0.13383	GAG	RNF151	-	superfamily_TRAF-like		0.682	RNF151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF151	HGNC	protein_coding	OTTHUMT00000434030.1	G	NM_174903		2018792	+1	no_errors	ENST00000569714	ensembl	human	known	70_37	missense	SNP	0.996	A
RNF213	57674	genome.wustl.edu	37	17	78261737	78261737	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:78261737C>T	ENST00000582970.1	+	4	528	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	RNF213_ENST00000456466.1_Nonsense_Mutation_p.Q129*|RNF213_ENST00000319921.4_Nonsense_Mutation_p.Q129*|RNF213_ENST00000508628.2_Nonsense_Mutation_p.Q178*	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	129					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCCGTGGCCTCAGGACACAGC	0.642																																																	0													30.0	27.0	28.0					17																	78261737		2185	4272	6457	SO:0001587	stop_gained	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.385C>T	17.37:g.78261737C>T	ENSP00000464087:p.Gln129*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Nonsense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.Q129*	ENST00000582970.1	37	c.385	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.448274	0.96205	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000456466;ENST00000319921	.	.	.	4.33	2.09	0.27110	.	45.895600	0.02977	U	0.145203	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.11794	T	0.64	-1.0227	9.7661	0.40561	0.3229:0.6771:0.0:0.0	.	.	.	.	X	129;178;129;129	.	ENSP00000324392:Q129X	Q	+	1	0	RNF213	75876332	0.001000	0.12720	0.003000	0.11579	0.014000	0.08584	-0.076000	0.11412	0.919000	0.36945	0.655000	0.94253	CAG	RNF213	-	NULL		0.642	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78261737	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	nonsense	SNP	0.006	T
RNF213	57674	genome.wustl.edu	37	17	78328309	78328309	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:78328309C>T	ENST00000582970.1	+	36	10938	c.10795C>T	c.(10795-10797)Cac>Tac	p.H3599Y	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000336301.6_Missense_Mutation_p.H1672Y|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.H3648Y	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3599					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GAGCCAGTTTCACCCTCTGGA	0.527																																																	0													75.0	70.0	72.0					17																	78328309		2203	4300	6503	SO:0001583	missense	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.10795C>T	17.37:g.78328309C>T	ENSP00000464087:p.His3599Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Missense_Mutation	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.H3599Y	ENST00000582970.1	37	c.10795	CCDS58606.1	17	.	.	.	.	.	.	.	.	.	.	C	8.562	0.877950	0.17395	.	.	ENSG00000173821	ENST00000508628;ENST00000411702;ENST00000336301	T	0.23754	1.89	4.93	-4.38	0.03622	.	1.400950	0.04119	N	0.315957	T	0.12860	0.0312	N	0.14661	0.345	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.18935	-1.0321	10	0.26408	T	0.33	.	4.8923	0.13733	0.1149:0.5033:0.1166:0.2653	.	3648;1672	C9JCP4;Q63HN8	.;RN213_HUMAN	Y	3599;3648;1672	ENSP00000338218:H1672Y	ENSP00000338218:H1672Y	H	+	1	0	RNF213	75942904	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.186000	0.03070	-1.383000	0.02106	-0.188000	0.12872	CAC	RNF213	-	NULL		0.527	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78328309	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	missense	SNP	0.000	T
RNF41	10193	genome.wustl.edu	37	12	56601988	56601988	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56601988C>T	ENST00000345093.4	-	5	826	c.457G>A	c.(457-459)Gag>Aag	p.E153K	RNF41_ENST00000394013.2_Missense_Mutation_p.E82K|RNF41_ENST00000552244.1_Missense_Mutation_p.E153K|RNF41_ENST00000552656.1_Missense_Mutation_p.E153K	NM_005785.3|NM_194359.2	NP_005776.1|NP_919340.1	Q9H4P4	RNF41_HUMAN	ring finger protein 41, E3 ubiquitin protein ligase	153					extrinsic apoptotic signaling pathway (GO:0097191)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|proteasomal protein catabolic process (GO:0010498)|protein autoubiquitination (GO:0051865)|protein polyubiquitination (GO:0000209)|regulation of establishment of cell polarity (GO:2000114)|regulation of lymphocyte differentiation (GO:0045619)|regulation of MAPK cascade (GO:0043408)|regulation of myeloid cell differentiation (GO:0045637)|regulation of protein kinase B signaling (GO:0051896)|regulation of reactive oxygen species metabolic process (GO:2000377)	cytosol (GO:0005829)	acid-amino acid ligase activity (GO:0016881)|protein tag (GO:0031386)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	11						GACGTCTTCTCCAGCTCTGCG	0.562																																																	0													126.0	102.0	111.0					12																	56601988		2203	4300	6503	SO:0001583	missense	10193			AF077599	CCDS8909.1, CCDS8910.1	12q13.13	2014-03-24	2014-03-24		ENSG00000181852	ENSG00000181852		"""RING-type (C3HC4) zinc fingers"""	18401	protein-coding gene	gene with protein product			"""ring finger protein 41"""				Standard	NM_005785		Approved	SBBI03, NRDP1	uc001skg.2	Q9H4P4	OTTHUMG00000170328	ENST00000345093.4:c.457G>A	12.37:g.56601988C>T	ENSP00000342755:p.Glu153Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFW0|B2RBT8|O75598	Missense_Mutation	SNP	pfam_USP8_interacting,pfam_Znf_C3HC4_RING-type,pfam_Ubox_domain,superfamily_TRAF-like,smart_Znf_RING,pfscan_Znf_RING,pfscan_Znf_SIAH	p.E153K	ENST00000345093.4	37	c.457	CCDS8909.1	12	.	.	.	.	.	.	.	.	.	.	C	12.48	1.950728	0.34471	.	.	ENSG00000181852	ENST00000345093;ENST00000394013;ENST00000448057;ENST00000552656;ENST00000551711;ENST00000552244;ENST00000549038	T;T;T;T	0.09073	3.06;3.06;3.02;3.03	5.08	5.08	0.68730	USP8 interacting (1);	0.213988	0.48286	D	0.000193	T	0.03053	0.0090	N	0.01352	-0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.08055	0.003;0.002	T	0.35895	-0.9770	10	0.02654	T	1	.	17.7887	0.88546	0.0:1.0:0.0:0.0	.	140;153	B4E353;Q9H4P4	.;RNF41_HUMAN	K	153;82;140;153;82;153;153	ENSP00000342755:E153K;ENSP00000447303:E153K;ENSP00000448187:E153K;ENSP00000446595:E153K	ENSP00000342755:E153K	E	-	1	0	RNF41	54888255	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.587000	0.82613	2.826000	0.97356	0.655000	0.94253	GAG	RNF41	-	pfam_USP8_interacting		0.562	RNF41-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF41	HGNC	protein_coding	OTTHUMT00000408525.1	C	NM_005785		56601988	-1	no_errors	ENST00000345093	ensembl	human	known	70_37	missense	SNP	1.000	T
RNPEPL1	57140	genome.wustl.edu	37	2	241516041	241516041	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:241516041G>C	ENST00000270357.4	+	9	1500	c.907G>C	c.(907-909)Gag>Cag	p.E303Q	RNPEPL1_ENST00000464550.1_3'UTR	NM_018226.4	NP_060696.4	Q9HAU8	RNPL1_HUMAN	arginyl aminopeptidase (aminopeptidase B)-like 1	303					leukotriene biosynthetic process (GO:0019370)		aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.E303Q(1)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	13		all_epithelial(40;1.13e-11)|Breast(86;0.000169)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.204)|Melanoma(123;0.238)		Epithelial(32;3.05e-31)|all cancers(36;8.2e-29)|OV - Ovarian serous cystadenocarcinoma(60;8.55e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.12e-06)|Lung(119;0.00168)|Colorectal(34;0.005)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.0322)		CCGGCCCGTGGAGGCCCTTTT	0.652																																																	1	Substitution - Missense(1)	lung(1)											35.0	39.0	37.0					2																	241516041		2203	4293	6496	SO:0001583	missense	57140					2q37.3	2012-03-06			ENSG00000142327	ENSG00000142327			10079	protein-coding gene	gene with protein product		605287				19508204	Standard	NM_018226		Approved		uc002vzi.4	Q9HAU8	OTTHUMG00000133357	ENST00000270357.4:c.907G>C	2.37:g.241516041G>C	ENSP00000270357:p.Glu303Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5XKC3|Q6NX56|Q96AC9|Q9H033|Q9NVD0	Missense_Mutation	SNP	pfam_Peptidase_M1_C,pfam_Peptidase_M1_N,superfamily_ARM-type_fold,prints_Peptidase_M1_N	p.E303Q	ENST00000270357.4	37	c.907		2	.	.	.	.	.	.	.	.	.	.	G	7.401	0.632769	0.14322	.	.	ENSG00000142327	ENST00000451363;ENST00000270357;ENST00000437406	T;T	0.44083	0.93;0.93	4.36	4.36	0.52297	Peptidase M1, leukotriene A4 hydrolase, aminopeptidase C-terminal (1);Armadillo-type fold (1);	0.123337	0.53938	D	0.000044	T	0.35799	0.0944	L	0.41236	1.265	0.37458	D	0.915113	P;B	0.36909	0.573;0.064	B;B	0.37833	0.23;0.259	T	0.35301	-0.9794	10	0.28530	T	0.3	-25.1541	14.3682	0.66820	0.0:0.0:1.0:0.0	.	209;303	A4FTX9;Q9HAU8	.;RNPL1_HUMAN	Q	81;303;56	ENSP00000270357:E303Q;ENSP00000403319:E56Q	ENSP00000270357:E303Q	E	+	1	0	RNPEPL1	241164714	1.000000	0.71417	1.000000	0.80357	0.032000	0.12392	4.367000	0.59498	1.979000	0.57680	0.491000	0.48974	GAG	RNPEPL1	-	pfam_Peptidase_M1_C,superfamily_ARM-type_fold		0.652	RNPEPL1-001	KNOWN	basic|appris_principal	protein_coding	RNPEPL1	HGNC	protein_coding	OTTHUMT00000257190.4	G	NM_018226		241516041	+1	no_errors	ENST00000270357	ensembl	human	known	70_37	missense	SNP	1.000	C
ROS1	6098	genome.wustl.edu	37	6	117658469	117658469	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:117658469G>A	ENST00000368508.3	-	31	5312	c.5114C>T	c.(5113-5115)tCa>tTa	p.S1705L	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.S1699L	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1705	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTGGCTGCATGAAGTTTTAAC	0.308			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																			Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	0													90.0	88.0	89.0					6																	117658469		2202	4299	6501	SO:0001583	missense	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.5114C>T	6.37:g.117658469G>A	ENSP00000357494:p.Ser1705Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15368|Q5TDB5	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Fibronectin_type3,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_LDLR_classB_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S1705L	ENST00000368508.3	37	c.5114	CCDS5116.1	6	.	.	.	.	.	.	.	.	.	.	G	18.66	3.670987	0.67814	.	.	ENSG00000047936	ENST00000368508;ENST00000368507;ENST00000403284	T;T;T	0.55760	0.5;0.5;0.58	5.03	4.14	0.48551	.	0.287012	0.24547	N	0.037585	T	0.25791	0.0628	N	0.17082	0.46	0.80722	D	1	P	0.38978	0.652	B	0.44224	0.444	T	0.05305	-1.0893	10	0.33940	T	0.23	.	8.6957	0.34293	0.1028:0.0:0.8972:0.0	.	1705	P08922	ROS1_HUMAN	L	1705;1699;12	ENSP00000357494:S1705L;ENSP00000357493:S1699L;ENSP00000384647:S12L	ENSP00000357493:S1699L	S	-	2	0	ROS1	117765162	0.324000	0.24652	0.993000	0.49108	0.962000	0.63368	2.113000	0.41902	2.498000	0.84270	0.655000	0.94253	TCA	ROS1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.308	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ROS1	HGNC	protein_coding	OTTHUMT00000043464.1	G			117658469	-1	no_errors	ENST00000368508	ensembl	human	known	70_37	missense	SNP	0.822	A
RP1L1	94137	genome.wustl.edu	37	8	10466144	10466144	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:10466144C>T	ENST00000382483.3	-	4	5687	c.5464G>A	c.(5464-5466)Ggt>Agt	p.G1822S		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	1902					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCTTGGTCACCTCCTGCCGCA	0.612																																																	0													159.0	180.0	173.0					8																	10466144		2094	4214	6308	SO:0001583	missense	94137			AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.5464G>A	8.37:g.10466144C>T	ENSP00000371923:p.Gly1822Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.G1822S	ENST00000382483.3	37	c.5464	CCDS43708.1	8	.	.	.	.	.	.	.	.	.	.	C	12.64	1.997211	0.35226	.	.	ENSG00000183638	ENST00000382483	T	0.11277	2.79	4.1	3.21	0.36854	.	1.239200	0.06258	N	0.693380	T	0.08802	0.0218	L	0.27053	0.805	0.09310	N	1	P	0.34724	0.465	B	0.32465	0.146	T	0.39165	-0.9627	10	0.30078	T	0.28	-0.7225	8.1981	0.31409	0.0:0.7965:0.0:0.2035	.	1822	A6NKC6	.	S	1822	ENSP00000371923:G1822S	ENSP00000371923:G1822S	G	-	1	0	RP1L1	10503554	0.000000	0.05858	0.006000	0.13384	0.293000	0.27360	0.562000	0.23531	0.709000	0.31976	0.455000	0.32223	GGT	RP1L1	-	NULL		0.612	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1L1	HGNC	protein_coding	OTTHUMT00000375673.1	C			10466144	-1	no_errors	ENST00000382483	ensembl	human	known	70_37	missense	SNP	0.000	T
RPGR	6103	genome.wustl.edu	37	X	38135962	38135962	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:38135962C>T	ENST00000339363.3	-	15	2751	c.2584G>A	c.(2584-2586)Gaa>Aaa	p.E862K	RPGR_ENST00000309513.3_Missense_Mutation_p.E595K|RPGR_ENST00000318842.7_Missense_Mutation_p.E657K|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000338898.3_3'UTR			Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	862	Glu-rich.				cilium assembly (GO:0042384)|eye photoreceptor cell development (GO:0042462)|intracellular protein transport (GO:0006886)|intraciliary transport (GO:0042073)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|Golgi apparatus (GO:0005794)|photoreceptor outer segment (GO:0001750)|sperm flagellum (GO:0036126)	guanyl-nucleotide exchange factor activity (GO:0005085)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TCCACATTTTCAGCATTAATT	0.358																																																	0													226.0	183.0	197.0					X																	38135962		2201	4300	6501	SO:0001583	missense	6103			U57629	CCDS14246.1, CCDS35229.1	Xp11.4	2013-06-06	2004-02-13		ENSG00000156313	ENSG00000156313			10295	protein-coding gene	gene with protein product		312610	"""retinitis pigmentosa 15"", ""cone dystrophy 1 (X-linked)"""	CRD, RP3, RP15, COD1		8673101, 8817343	Standard	XM_005272633		Approved	CORDX1	uc004ded.1	Q92834	OTTHUMG00000021361	ENST00000339363.3:c.2584G>A	X.37:g.38135962C>T	ENSP00000343671:p.Glu862Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ARN3|E9PE28|O00702|O00737|Q3KN84|Q8N5T6|Q93039|Q9HD29|Q9UMR1	Missense_Mutation	SNP	pfam_Reg_chr_condens,superfamily_Reg_csome_cond/b-lactamase_inh,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.E862K	ENST00000339363.3	37	c.2584		X	.	.	.	.	.	.	.	.	.	.	C	9.872	1.199157	0.22121	.	.	ENSG00000156313	ENST00000339363;ENST00000309513;ENST00000318842	T;T;T	0.16897	2.31;3.71;3.71	2.72	1.77	0.24775	.	.	.	.	.	T	0.14743	0.0356	L	0.34521	1.04	0.09310	N	1	P	0.40578	0.722	P	0.44673	0.457	T	0.20638	-1.0269	9	0.23891	T	0.37	.	7.1471	0.25589	0.0:0.7087:0.2913:0.0	.	657	Q92834-2	.	K	862;595;657	ENSP00000343671:E862K;ENSP00000308783:E595K;ENSP00000322219:E657K	ENSP00000308783:E595K	E	-	1	0	RPGR	38020906	0.002000	0.14202	0.000000	0.03702	0.010000	0.07245	0.378000	0.20569	0.297000	0.22615	0.596000	0.82720	GAA	RPGR	-	superfamily_Reg_csome_cond/b-lactamase_inh		0.358	RPGR-203	KNOWN	basic|appris_candidate	protein_coding	RPGR	HGNC	protein_coding		C	NM_000328		38135962	-1	no_errors	ENST00000339363	ensembl	human	known	70_37	missense	SNP	0.001	T
RPL23AP82	284942	genome.wustl.edu	37	22	51237643	51237643	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:51237643C>G	ENST00000480246.1	+	0	893					NR_026982.1																						TAAttagaatcaaatctataa	0.269																																																	0																																												284942																															22.37:g.51237643C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000480246.1	37	NULL		22																																																																																			AC002055.4	-	-		0.269	AC002055.4-006	KNOWN	basic	processed_transcript	RPL23AP82	Clone_based_vega_gene	pseudogene	OTTHUMT00000316621.1	C			51237643	+1	no_errors	ENST00000462238	ensembl	human	known	70_37	rna	SNP	0.999	G
RPL39	6170	genome.wustl.edu	37	X	118921285	118921285	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:118921285C>T	ENST00000361575.3	-	3	174				RPL39_ENST00000468844.1_Intron|SNORA69_ENST00000383895.1_RNA	NM_001000.2	NP_000991.1	P62891	RL39_HUMAN	ribosomal protein L39						antibacterial humoral response (GO:0019731)|cellular protein metabolic process (GO:0044267)|defense response to Gram-positive bacterium (GO:0050830)|gene expression (GO:0010467)|innate immune response in mucosa (GO:0002227)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular space (GO:0005615)	RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(2)	3						CTCCTCCATTCACGTCTAGTG	0.463																																																	0													372.0	318.0	335.0					X																	118921285		876	1991	2867	SO:0001627	intron_variant	6170				CCDS14586.1	Xq24	2013-03-11			ENSG00000198918	ENSG00000198918		"""L ribosomal proteins"""	10350	protein-coding gene	gene with protein product		300899	"""ribosomal protein L39 pseudogene 42"""	RPL39P42		8764829	Standard	NM_001000		Approved	L39	uc004erx.2	P62891	OTTHUMG00000022278	ENST00000361575.3:c.108-590G>A	X.37:g.118921285C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P02404|P39025|Q9BYF2	RNA	SNP	-	NULL	ENST00000361575.3	37	NULL	CCDS14586.1	X																																																																																			RPL39	-	-		0.463	RPL39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPL39	HGNC	protein_coding	OTTHUMT00000058047.1	C	NM_001000		118921285	-1	no_errors	ENST00000477403	ensembl	human	known	70_37	rna	SNP	0.007	T
RPL6	6128	genome.wustl.edu	37	12	112843702	112843702	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:112843702C>T	ENST00000424576.2	-	6	854	c.669G>A	c.(667-669)cgG>cgA	p.R223R	RPL6_ENST00000202773.9_Silent_p.R223R	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	223					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						GTCTGGGCTTCCGCAGCTTCT	0.433																																																	0													82.0	90.0	87.0					12																	112843702		2201	4297	6498	SO:0001819	synonymous_variant	6128			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.669G>A	12.37:g.112843702C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3Q3|Q8WW97	Silent	SNP	pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like	p.R223	ENST00000424576.2	37	c.669	CCDS9162.1	12																																																																																			RPL6	-	pfam_Ribosomal_L6E,superfamily_Translation_prot_SH3-like		0.433	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	HGNC	protein_coding	OTTHUMT00000405422.1	C			112843702	-1	no_errors	ENST00000202773	ensembl	human	known	70_37	silent	SNP	0.997	T
RPP14	11102	genome.wustl.edu	37	3	58303748	58303748	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:58303748C>T	ENST00000445193.3	+	0	1311				RPP14_ENST00000477305.1_3'UTR|RPP14_ENST00000528153.1_Silent_p.F136F|RPP14_ENST00000295959.5_3'UTR	NM_001098783.2	NP_001092253.1	O95059	RPP14_HUMAN	ribonuclease P/MRP 14kDa subunit						tRNA processing (GO:0008033)	nucleus (GO:0005634)	ribonuclease P activity (GO:0004526)|RNA binding (GO:0003723)			large_intestine(2)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.000187)|KIRC - Kidney renal clear cell carcinoma(10;0.0102)|Kidney(10;0.0118)|OV - Ovarian serous cystadenocarcinoma(275;0.191)		TGAAGCGGTTCATTGCTATTA	0.388																																																	0																																										SO:0001624	3_prime_UTR_variant	11102			AF001175	CCDS2888.1	3p21.2	2012-05-21	2007-06-26		ENSG00000163684	ENSG00000163684			30327	protein-coding gene	gene with protein product		606112	"""ribonuclease P 14kDa subunit"""			10024167, 11929972	Standard	NM_001098783		Approved	P14	uc031sah.1	O95059	OTTHUMG00000159152	ENST00000445193.3:c.*525C>T	3.37:g.58303748C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53X97	Silent	SNP	pfam_MaoC_deHydtase	p.F136	ENST00000445193.3	37	c.408	CCDS2888.1	3																																																																																			RPP14	-	pfam_MaoC_deHydtase		0.388	RPP14-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPP14	Uniprot_genename	protein_coding	OTTHUMT00000353527.2	C	NM_007042		58303748	+1	no_errors	ENST00000544156	ensembl	human	known	70_37	silent	SNP	0.000	T
RPS6KA5	9252	genome.wustl.edu	37	14	91413850	91413850	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:91413850C>G	ENST00000261991.3	-	4	612	c.439G>C	c.(439-441)Gag>Cag	p.E147Q	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.E68Q|RPS6KA5_ENST00000418736.2_Missense_Mutation_p.E147Q	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	147	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|epidermal growth factor receptor signaling pathway (GO:0007173)|histone H2A-S1 phosphorylation (GO:0043990)|histone H3-S10 phosphorylation (GO:0043987)|histone H3-S28 phosphorylation (GO:0043988)|histone phosphorylation (GO:0016572)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|intracellular signal transduction (GO:0035556)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cytokine production (GO:0001818)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		GTGAAACGCTCTCTTTGAGAA	0.343																																																	0													108.0	106.0	107.0					14																	91413850		2203	4300	6503	SO:0001583	missense	9252			AF074393	CCDS9893.1, CCDS45149.1	14q31-q32.1	2011-04-05	2002-08-29			ENSG00000100784			10434	protein-coding gene	gene with protein product		603607	"""ribosomal protein S6 kinase, 90kD, polypeptide 5"""			9687510, 10702687	Standard	NM_004755		Approved	MSK1, RLPK	uc001xys.2	O75582		ENST00000261991.3:c.439G>C	14.37:g.91413850C>G	ENSP00000261991:p.Glu147Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O95316|Q96AF7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,pfam_Aminoglycoside_PTrfase,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_AGC-kinase_C,smart_Tyr_kinase_cat_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom	p.E147Q	ENST00000261991.3	37	c.439	CCDS9893.1	14	.	.	.	.	.	.	.	.	.	.	C	22.4	4.288943	0.80914	.	.	ENSG00000100784	ENST00000261991;ENST00000536315;ENST00000418736	T;T;T	0.24723	1.84;1.84;1.84	5.33	5.33	0.75918	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.056954	0.64402	D	0.000001	T	0.35970	0.0950	N	0.21583	0.68	0.58432	D	0.99999	B;D	0.56968	0.023;0.978	B;D	0.62955	0.135;0.909	T	0.05750	-1.0866	10	0.30078	T	0.28	.	19.0272	0.92937	0.0:1.0:0.0:0.0	.	147;147	O75582-2;O75582	.;KS6A5_HUMAN	Q	147;68;147	ENSP00000261991:E147Q;ENSP00000442803:E68Q;ENSP00000402787:E147Q	ENSP00000261991:E147Q	E	-	1	0	RPS6KA5	90483603	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.440000	0.80464	2.502000	0.84385	0.591000	0.81541	GAG	RPS6KA5	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pirsf_Ribosomal_S6_kinase_II,pfscan_Prot_kinase_cat_dom		0.343	RPS6KA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KA5	HGNC	protein_coding	OTTHUMT00000411442.2	C	NM_004755		91413850	-1	no_errors	ENST00000261991	ensembl	human	known	70_37	missense	SNP	1.000	G
RPUSD2	27079	genome.wustl.edu	37	15	40865974	40865974	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:40865974C>G	ENST00000315616.7	+	3	1190	c.1152C>G	c.(1150-1152)ctC>ctG	p.L384L	RPUSD2_ENST00000559271.1_Silent_p.L323L	NM_152260.1	NP_689473.1	Q8IZ73	RUSD2_HUMAN	RNA pseudouridylate synthase domain containing 2	384					pseudouridine synthesis (GO:0001522)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(4)|lung(4)|skin(3)	11		all_cancers(109;2.74e-14)|all_epithelial(112;1.64e-11)|Lung NSC(122;6.69e-09)|all_lung(180;1.22e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;3.1e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0786)		ATCCCATTCTCAACGACCCCA	0.582																																																	0													73.0	58.0	63.0					15																	40865974		2203	4300	6503	SO:0001819	synonymous_variant	27079			AK055971	CCDS10061.1, CCDS66737.1	15q13.3	2013-02-11	2005-01-31	2005-02-07	ENSG00000166133	ENSG00000166133		"""RNA pseudouridylate synthase domain containing"""	24180	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 19"""	C15orf19		12477932	Standard	NM_001286407		Approved	C18B11, FLJ31409	uc001zmd.1	Q8IZ73	OTTHUMG00000130031	ENST00000315616.7:c.1152C>G	15.37:g.40865974C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDD1|Q7L989|Q92939|Q96IA7|Q96N50	Silent	SNP	pfam_PsdUridine_synth_RsuA/RluD,superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D	p.L384	ENST00000315616.7	37	c.1152	CCDS10061.1	15																																																																																			RPUSD2	-	superfamily_PsdUridine_synth_cat_dom,tigrfam_PsdUridine_synth_RluC/D		0.582	RPUSD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPUSD2	HGNC	protein_coding	OTTHUMT00000252308.2	C	NM_152260		40865974	+1	no_errors	ENST00000315616	ensembl	human	known	70_37	silent	SNP	1.000	G
RRP9	9136	genome.wustl.edu	37	3	51967558	51967558	+	Silent	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:51967558G>T	ENST00000232888.6	-	15	1465	c.1392C>A	c.(1390-1392)ctC>ctA	p.L464L		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	464					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small nuclear ribonucleoprotein complex (GO:0030532)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GGACCCTGCGGAGTGGGATGA	0.557																																																	0													74.0	79.0	78.0					3																	51967558		2203	4300	6503	SO:0001819	synonymous_variant	9136			AJ001340	CCDS2837.1	3p21.31	2013-01-10	2008-02-26	2006-10-24	ENSG00000114767	ENSG00000114767		"""WD repeat domain containing"""	16829	protein-coding gene	gene with protein product			"""RNA, U3 small nucleolar interacting protein 2"""	RNU3IP2		9418896, 12032086	Standard	NM_004704		Approved	U3-55K	uc003dbw.2	O43818	OTTHUMG00000156930	ENST00000232888.6:c.1392C>A	3.37:g.51967558G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R996|Q8IZ30	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.L464	ENST00000232888.6	37	c.1392	CCDS2837.1	3																																																																																			RRP9	-	NULL		0.557	RRP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRP9	HGNC	protein_coding	OTTHUMT00000346637.1	G	NM_004704		51967558	-1	no_errors	ENST00000232888	ensembl	human	known	70_37	silent	SNP	0.990	T
RSAD2	91543	genome.wustl.edu	37	2	7033825	7033825	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:7033825G>C	ENST00000382040.3	+	5	1048	c.912G>C	c.(910-912)ctG>ctC	p.L304L	RSAD2_ENST00000541728.1_Silent_p.L197L	NM_080657.4	NP_542388.2			radical S-adenosyl methionine domain containing 2											endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		ACCTTATTCTGGATGAATATG	0.333																																																	0													113.0	114.0	114.0					2																	7033825		2203	4300	6503	SO:0001819	synonymous_variant	91543			AF442151	CCDS1656.1	2p25.2	2008-02-05			ENSG00000134321	ENSG00000134321			30908	protein-coding gene	gene with protein product		607810				11752458	Standard	NM_080657		Approved	cig5, viperin, vig1	uc002qyp.1	Q8WXG1	OTTHUMG00000090352	ENST00000382040.3:c.912G>C	2.37:g.7033825G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_rSAM,smart_Elp3/MiaB/NifB	p.L304	ENST00000382040.3	37	c.912	CCDS1656.1	2																																																																																			RSAD2	-	NULL		0.333	RSAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSAD2	HGNC	protein_coding	OTTHUMT00000206724.2	G	NM_080657		7033825	+1	no_errors	ENST00000382040	ensembl	human	known	70_37	silent	SNP	1.000	C
RSL24D1	51187	genome.wustl.edu	37	15	55489063	55489063	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:55489063C>G	ENST00000260443.4	-	1	202	c.26G>C	c.(25-27)tGt>tCt	p.C9S	RSL24D1_ENST00000565854.1_5'Flank	NM_016304.2	NP_057388.1	Q9UHA3	RLP24_HUMAN	ribosomal L24 domain containing 1	9					ribosome biogenesis (GO:0042254)	nucleus (GO:0005634)				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	7						GGGCCCCGAACAGAAATAACA	0.542											OREG0023135	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													118.0	91.0	100.0					15																	55489063		2193	4292	6485	SO:0001583	missense	51187			AF201949	CCDS10152.1	15q21	2009-02-27	2009-02-27	2009-02-27	ENSG00000137876	ENSG00000137876			18479	protein-coding gene	gene with protein product		613262	"""chromosome 15 open reading frame 15"""	C15orf15		12808088, 11707418	Standard	NM_016304		Approved	HRP-L30-iso, L30, RPL24L, RPL24	uc002acn.3	Q9UHA3	OTTHUMG00000131957	ENST00000260443.4:c.26G>C	15.37:g.55489063C>G	ENSP00000260443:p.Cys9Ser	Somatic	1008	WXS	Illumina HiSeq	Phase_IV	B2RD72|Q561V8|Q8N6S8|Q96B04|Q96C76|Q96HJ1	Missense_Mutation	SNP	pfam_Ribosomal_L24e_rel,smart_TRASH	p.C9S	ENST00000260443.4	37	c.26	CCDS10152.1	15	.	.	.	.	.	.	.	.	.	.	C	16.01	3.001095	0.54254	.	.	ENSG00000137876	ENST00000260443	.	.	.	4.47	3.53	0.40419	Ribosomal protein L24e, conserved site (1);TRASH (1);Ribosomal protein L24e domain (1);	0.091941	0.85682	D	0.000000	T	0.61022	0.2314	L	0.58428	1.81	0.80722	D	1	B	0.27910	0.193	B	0.34536	0.185	T	0.64110	-0.6484	9	0.87932	D	0	-9.8255	12.4968	0.55933	0.1686:0.8314:0.0:0.0	.	9	Q9UHA3	RLP24_HUMAN	S	9	.	ENSP00000260443:C9S	C	-	2	0	RSL24D1	53276355	1.000000	0.71417	0.865000	0.33974	0.977000	0.68977	6.823000	0.75282	1.073000	0.40885	0.563000	0.77884	TGT	RSL24D1	-	pfam_Ribosomal_L24e_rel,smart_TRASH		0.542	RSL24D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSL24D1	HGNC	protein_coding	OTTHUMT00000254916.1	C	NM_016304		55489063	-1	no_errors	ENST00000260443	ensembl	human	known	70_37	missense	SNP	1.000	G
RTEL1	51750	genome.wustl.edu	37	20	62324337	62324337	+	Silent	SNP	G	G	A	rs147040733		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:62324337G>A	ENST00000360203.5	+	29	3157	c.2832G>A	c.(2830-2832)aaG>aaA	p.K944K	RTEL1_ENST00000370018.3_Silent_p.K944K|RTEL1-TNFRSF6B_ENST00000482936.1_Silent_p.K944K|RTEL1_ENST00000318100.4_Silent_p.K944K|RTEL1_ENST00000370003.1_Silent_p.K189K|RTEL1_ENST00000508582.2_Silent_p.K968K					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGGACCCCAAGAAGCACAACC	0.662																																																	0													94.0	108.0	103.0					20																	62324337		2198	4292	6490	SO:0001819	synonymous_variant	51750			AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.2832G>A	20.37:g.62324337G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_DEAD_2,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3	p.K944	ENST00000360203.5	37	c.2832		20																																																																																			RTEL1	-	NULL		0.662	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	RTEL1	HGNC	protein_coding	OTTHUMT00000289781.1	G	NM_032957		62324337	+1	no_errors	ENST00000318100	ensembl	human	known	70_37	silent	SNP	0.916	A
RTN2	6253	genome.wustl.edu	37	19	45998373	45998373	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:45998373G>C	ENST00000245923.4	-	2	294	c.59C>G	c.(58-60)tCa>tGa	p.S20*	PPM1N_ENST00000396737.2_5'Flank|RTN2_ENST00000589384.1_5'UTR|RTN2_ENST00000590526.1_5'UTR|PPM1N_ENST00000456399.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000430715.2_5'Flank|RTN2_ENST00000344680.4_Nonsense_Mutation_p.S20*	NM_005619.4	NP_005610.1	O75298	RTN2_HUMAN	reticulon 2	20					cell death (GO:0008219)|intracellular protein transmembrane transport (GO:0065002)|regulation of glucose import (GO:0046324)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		ATCAGGAGTTGAGGAGGCTGT	0.542																																																	0													85.0	84.0	84.0					19																	45998373		2203	4300	6503	SO:0001587	stop_gained	6253			AF038540	CCDS12665.1, CCDS12666.1, CCDS46114.1	19q13.2-q13.3	2012-03-30				ENSG00000125744			10468	protein-coding gene	gene with protein product	"""NSP-like protein 1"", ""Neuroendocrine-specific protein-like 1"""	603183	"""spastic paraplegia 12 (autosomal dominant)"""	SPG12		8812484, 9530622, 22232211	Standard	NM_005619		Approved	NSP2, NSPL1	uc002pcb.4	O75298		ENST00000245923.4:c.59C>G	19.37:g.45998373G>C	ENSP00000245923:p.Ser20*	Somatic		WXS	Illumina HiSeq	Phase_IV	O60509|Q7RTM6|Q7RTN1|Q7RTN2	Nonsense_Mutation	SNP	pfam_Reticulon,pfscan_Reticulon	p.S20*	ENST00000245923.4	37	c.59	CCDS12665.1	19	.	.	.	.	.	.	.	.	.	.	G	35	5.524230	0.96431	.	.	ENSG00000125744	ENST00000344680;ENST00000245923	.	.	.	5.18	5.18	0.71444	.	0.000000	0.50627	D	0.000102	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-12.3784	14.0568	0.64774	0.0:0.0:1.0:0.0	.	.	.	.	X	20	.	ENSP00000245923:S20X	S	-	2	0	RTN2	50690213	1.000000	0.71417	1.000000	0.80357	0.503000	0.33858	4.801000	0.62532	2.700000	0.92200	0.462000	0.41574	TCA	RTN2	-	NULL		0.542	RTN2-001	KNOWN	basic|CCDS	protein_coding	RTN2	HGNC	protein_coding	OTTHUMT00000459574.1	G	NM_005619		45998373	-1	no_errors	ENST00000245923	ensembl	human	known	70_37	nonsense	SNP	1.000	C
RTTN	25914	genome.wustl.edu	37	18	67684778	67684778	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:67684778G>A	ENST00000255674.6	-	46	6572	c.6286C>T	c.(6286-6288)Ctg>Ttg	p.L2096L	RTTN_ENST00000579986.1_5'Flank|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	2096					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TCAAGCCTCAGAATCATTTGT	0.373																																																	0													144.0	139.0	140.0					18																	67684778		1895	4130	6025	SO:0001819	synonymous_variant	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.6286C>T	18.37:g.67684778G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Silent	SNP	superfamily_ARM-type_fold	p.L2096	ENST00000255674.6	37	c.6286	CCDS42443.1	18																																																																																			RTTN	-	superfamily_ARM-type_fold		0.373	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	G	NM_173630		67684778	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	silent	SNP	1.000	A
RUFY3	22902	genome.wustl.edu	37	4	71659536	71659536	+	IGR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:71659536G>C	ENST00000226328.4	+	0	4233				RUFY3_ENST00000381006.3_Missense_Mutation_p.E458Q|RUFY3_ENST00000502653.1_Missense_Mutation_p.E405Q	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis (GO:0050771)	filopodium (GO:0030175)|growth cone (GO:0030426)				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CCAATCTGCTGAGTTGGACAA	0.527																																																	0													51.0	49.0	50.0					4																	71659536		2203	4300	6503	SO:0001628	intergenic_variant	22902			AF112221	CCDS3547.1, CCDS34001.1, CCDS47068.1, CCDS75138.1	4q13.3	2009-05-29			ENSG00000018189	ENSG00000018189		"""Zinc fingers, FYVE domain containing"""	30285	protein-coding gene	gene with protein product	"""single axon-related 1"""	611194				17439943	Standard	NM_001130709		Approved	RIPx, KIAA0871, Singar1	uc003hfr.3	Q7L099	OTTHUMG00000129910		4.37:g.71659536G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KM25|B4DYW7|D9N163|O94948|Q9UI00	Missense_Mutation	SNP	pfam_Run,superfamily_Znf_FYVE_PHD,superfamily_Prefoldin,smart_Run,smart_Znf_FYVE,pfscan_Run	p.E458Q	ENST00000226328.4	37	c.1372	CCDS3547.1	4	.	.	.	.	.	.	.	.	.	.	G	16.28	3.079565	0.55753	.	.	ENSG00000018189	ENST00000381006;ENST00000502653	T;T	0.10477	2.88;2.87	5.88	5.88	0.94601	.	0.504809	0.21611	N	0.071790	T	0.11281	0.0275	.	.	.	0.80722	D	1	B	0.18610	0.029	B	0.19946	0.027	T	0.11690	-1.0577	9	0.33940	T	0.23	-1.2845	16.6749	0.85276	0.0:0.1379:0.8621:0.0	.	458	Q7L099-3	.	Q	458;405	ENSP00000370394:E458Q;ENSP00000425400:E405Q	ENSP00000370394:E458Q	E	+	1	0	RUFY3	71878400	0.995000	0.38212	0.997000	0.53966	0.996000	0.88848	2.302000	0.43637	2.780000	0.95670	0.655000	0.94253	GAG	RUFY3	-	NULL		0.527	RUFY3-001	KNOWN	basic|CCDS	protein_coding	RUFY3	HGNC	protein_coding	OTTHUMT00000252161.2	G	NM_014961		71659536	+1	no_errors	ENST00000381006	ensembl	human	novel	70_37	missense	SNP	1.000	C
RUNDC1	146923	genome.wustl.edu	37	17	41143001	41143001	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41143001G>A	ENST00000361677.1	+	5	1122	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	370										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CCCTGTGGCAGAGGGTCCAGG	0.607																																																	0													48.0	43.0	45.0					17																	41143001		2203	4300	6503	SO:0001819	synonymous_variant	146923			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1110G>A	17.37:g.41143001G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.Q370	ENST00000361677.1	37	c.1110	CCDS11448.1	17																																																																																			RUNDC1	-	NULL		0.607	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1	G	NM_173079		41143001	+1	no_errors	ENST00000361677	ensembl	human	known	70_37	silent	SNP	0.648	A
RUNDC1	146923	genome.wustl.edu	37	17	41143037	41143037	+	Silent	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:41143037G>T	ENST00000361677.1	+	5	1158	c.1146G>T	c.(1144-1146)ctG>ctT	p.L382L		NM_173079.2	NP_775102	Q96C34	RUND1_HUMAN	RUN domain containing 1	382										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.161)		CTCCCTTGCTGAAGAGGCTGG	0.567																																																	0													47.0	40.0	43.0					17																	41143037		2203	4300	6503	SO:0001819	synonymous_variant	146923			AL831813	CCDS11448.1	17q21.31	2004-02-27				ENSG00000198863			25418	protein-coding gene	gene with protein product						12477932	Standard	NM_173079		Approved	DKFZp761H0421	uc002ici.1	Q96C34		ENST00000361677.1:c.1146G>T	17.37:g.41143037G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6Y2K8|Q8IXT9|Q8N3W1	Silent	SNP	pfam_Run,smart_Run,pfscan_Run	p.L382	ENST00000361677.1	37	c.1146	CCDS11448.1	17																																																																																			RUNDC1	-	NULL		0.567	RUNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RUNDC1	HGNC	protein_coding	OTTHUMT00000452464.1	G	NM_173079		41143037	+1	no_errors	ENST00000361677	ensembl	human	known	70_37	silent	SNP	0.490	T
RYR2	6262	genome.wustl.edu	37	1	237780711	237780711	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:237780711C>T	ENST00000366574.2	+	38	6158	c.5841C>T	c.(5839-5841)gtC>gtT	p.V1947V	RYR2_ENST00000360064.6_Silent_p.V1945V|RYR2_ENST00000542537.1_Silent_p.V1931V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1947	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAACGAAGTCATGCAAGCCT	0.443																																																	0													103.0	96.0	99.0					1																	237780711		2007	4202	6209	SO:0001819	synonymous_variant	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.5841C>T	1.37:g.237780711C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Silent	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.V1945	ENST00000366574.2	37	c.5835	CCDS55691.1	1																																																																																			RYR2	-	NULL		0.443	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237780711	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	silent	SNP	0.050	T
SAAL1	113174	genome.wustl.edu	37	11	18105253	18105253	+	Silent	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:18105253G>T	ENST00000524803.1	-	10	1117	c.1068C>A	c.(1066-1068)ctC>ctA	p.L356L	SAAL1_ENST00000300013.4_Silent_p.L355L|SAAL1_ENST00000529318.1_Silent_p.L358L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	356										breast(2)|large_intestine(5)|lung(8)	15						AGACCCGAATGAGGCTGTCAA	0.373																																																	0													98.0	94.0	95.0					11																	18105253		2200	4293	6493	SO:0001819	synonymous_variant	113174			AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1068C>A	11.37:g.18105253G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NH05	Silent	SNP	superfamily_ARM-type_fold	p.L356	ENST00000524803.1	37	c.1068	CCDS31439.1	11																																																																																			SAAL1	-	NULL		0.373	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SAAL1	HGNC	protein_coding	OTTHUMT00000389728.1	G	NM_138421		18105253	-1	no_errors	ENST00000524803	ensembl	human	known	70_37	silent	SNP	1.000	T
SACS	26278	genome.wustl.edu	37	13	23913856	23913856	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:23913856G>A	ENST00000382292.3	-	9	4432	c.4159C>T	c.(4159-4161)Cct>Tct	p.P1387S	SACS_ENST00000402364.1_Missense_Mutation_p.P637S|SACS_ENST00000382298.3_Missense_Mutation_p.P1387S			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	1387					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGTTTAGAAGGATTTTTGCTA	0.353																																																	0													175.0	171.0	172.0					13																	23913856		2203	4300	6503	SO:0001583	missense	26278			AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.4159C>T	13.37:g.23913856G>A	ENSP00000371729:p.Pro1387Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	pfam_HEPN,pfam_Ubiquitin,superfamily_ATPase-like_ATP-bd,superfamily_DnaJ_N,smart_HEPN,pfscan_HEPN,pfscan_DnaJ_N,pfscan_Ubiquitin_supergroup	p.P1387S	ENST00000382292.3	37	c.4159	CCDS9300.2	13	.	.	.	.	.	.	.	.	.	.	G	11.04	1.522434	0.27211	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86497	-1.99;-2.13;-1.99	6.06	4.33	0.51752	.	0.052646	0.85682	D	0.000000	T	0.75206	0.3818	L	0.28274	0.84	0.43852	D	0.996446	P	0.40000	0.698	B	0.32980	0.156	T	0.70063	-0.4975	10	0.15499	T	0.54	.	11.4837	0.50342	0.0644:0.0:0.8091:0.1265	.	1387	Q9NZJ4	SACS_HUMAN	S	1387;637;1387	ENSP00000371729:P1387S;ENSP00000385844:P637S;ENSP00000371735:P1387S	ENSP00000371729:P1387S	P	-	1	0	SACS	22811856	1.000000	0.71417	0.827000	0.32855	0.945000	0.59286	6.408000	0.73285	0.896000	0.36366	-0.142000	0.14014	CCT	SACS	-	NULL		0.353	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SACS	HGNC	protein_coding	OTTHUMT00000044148.3	G	NM_014363		23913856	-1	no_errors	ENST00000382292	ensembl	human	known	70_37	missense	SNP	0.997	A
SALL4	57167	genome.wustl.edu	37	20	50418912	50418912	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:50418912G>C	ENST00000217086.4	-	1	147	c.36C>G	c.(34-36)atC>atG	p.I12M	SALL4_ENST00000371539.3_Missense_Mutation_p.I12M|SALL4_ENST00000483130.1_5'Flank|SALL4_ENST00000395997.3_Missense_Mutation_p.I12M	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	12					embryonic limb morphogenesis (GO:0030326)|inner cell mass cell proliferation (GO:0001833)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|ventricular septum development (GO:0003281)	cytoplasm (GO:0005737)|heterochromatin (GO:0000792)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTCCGAGTTGATGTGCTGGG	0.682																																																	0													21.0	27.0	25.0					20																	50418912		2184	4273	6457	SO:0001583	missense	57167			AK001666	CCDS13438.1	20q13.2	2014-09-17	2013-10-17		ENSG00000101115	ENSG00000101115		"""Zinc fingers, C2H2-type"""	15924	protein-coding gene	gene with protein product		607343	"""sal (Drosophila)-like 4"", ""sal-like 4 (Drosophila)"""				Standard	NM_020436		Approved	dJ1112F19.1, ZNF797	uc002xwh.4	Q9UJQ4	OTTHUMG00000032752	ENST00000217086.4:c.36C>G	20.37:g.50418912G>C	ENSP00000217086:p.Ile12Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2D8|Q540H3|Q6Y8G6	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I12M	ENST00000217086.4	37	c.36	CCDS13438.1	20	.	.	.	.	.	.	.	.	.	.	G	21.1	4.095678	0.76870	.	.	ENSG00000101115	ENST00000217086;ENST00000395997;ENST00000371539	T;T;T	0.55930	0.49;0.49;3.26	4.69	4.69	0.59074	.	0.000000	0.38272	N	0.001760	T	0.70894	0.3276	M	0.76574	2.34	0.34930	D	0.749265	D;D;D	0.69078	0.997;0.982;0.997	D;P;D	0.64042	0.921;0.843;0.921	T	0.80603	-0.1309	10	0.56958	D	0.05	-30.6134	17.5547	0.87887	0.0:0.0:1.0:0.0	.	12;12;12	A2A2D8;Q6Y8G5;Q9UJQ4	.;.;SALL4_HUMAN	M	12	ENSP00000217086:I12M;ENSP00000379319:I12M;ENSP00000360594:I12M	ENSP00000217086:I12M	I	-	3	3	SALL4	49852319	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.730000	0.84881	2.307000	0.77673	0.591000	0.81541	ATC	SALL4	-	NULL		0.682	SALL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SALL4	HGNC	protein_coding	OTTHUMT00000079738.3	G			50418912	-1	no_errors	ENST00000217086	ensembl	human	known	70_37	missense	SNP	1.000	C
SARDH	1757	genome.wustl.edu	37	9	136577743	136577743	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:136577743G>A	ENST00000371872.4	-	10	1583	c.1326C>T	c.(1324-1326)atC>atT	p.I442I	SARDH_ENST00000439388.1_Silent_p.I442I|SARDH_ENST00000422262.2_Silent_p.I274I	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	442					glycine catabolic process (GO:0006546)	mitochondrion (GO:0005739)	aminomethyltransferase activity (GO:0004047)|sarcosine dehydrogenase activity (GO:0008480)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		GCACTTACCTGATGTCATAGC	0.602																																																	0													68.0	63.0	65.0					9																	136577743		2203	4300	6503	SO:0001819	synonymous_variant	1757				CCDS6978.1	9q33-q34	2008-02-05			ENSG00000123453	ENSG00000123453	1.5.99.2		10536	protein-coding gene	gene with protein product		604455		DMGDHL1		10444331	Standard	NM_007101		Approved	SDH	uc004cep.4	Q9UL12	OTTHUMG00000020879	ENST00000371872.4:c.1326C>T	9.37:g.136577743G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMR5|B4DPI2|B7ZLT6|Q5SYV0|Q9Y280|Q9Y2Y3	Silent	SNP	pfam_FAD-dep_OxRdtase,pfam_GCV_T_N,pfam_GCV_T_C	p.I442	ENST00000371872.4	37	c.1326	CCDS6978.1	9																																																																																			SARDH	-	NULL		0.602	SARDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARDH	HGNC	protein_coding	OTTHUMT00000054931.1	G			136577743	-1	no_errors	ENST00000371872	ensembl	human	known	70_37	silent	SNP	1.000	A
SARM1	23098	genome.wustl.edu	37	17	26712222	26712222	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:26712222G>C	ENST00000457710.3	+	5	1927	c.1456G>C	c.(1456-1458)Gag>Cag	p.E486Q	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	520	SAM 2. {ECO:0000255|PROSITE- ProRule:PRU00184}.				innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of apoptotic process (GO:0042981)|regulation of dendrite morphogenesis (GO:0048814)|regulation of neuron death (GO:1901214)|response to glucose (GO:0009749)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|extrinsic component of mitochondrial outer membrane (GO:0031315)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|synapse (GO:0045202)				cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CCGCGTGTCTGAGCAGCAGCT	0.731																																																	0													11.0	12.0	12.0					17																	26712222		2194	4279	6473	SO:0001583	missense	23098			AB011096		17q11	2013-01-10			ENSG00000004139	ENSG00000004139		"""Sterile alpha motif (SAM) domain containing"""	17074	protein-coding gene	gene with protein product		607732				9628581	Standard	NM_015077		Approved	SARM, SAMD2, KIAA0524	uc010crl.1	Q6SZW1	OTTHUMG00000132499	ENST00000457710.3:c.1456G>C	17.37:g.26712222G>C	ENSP00000406738:p.Glu486Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60277|Q7LGG3|Q9NXY5	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_ARM-type_fold,superfamily_TIR_dom,superfamily_SAM/pointed,smart_SAM,smart_TIR_dom,pfscan_SAM	p.E486Q	ENST00000457710.3	37	c.1456		17	.	.	.	.	.	.	.	.	.	.	G	16.52	3.146463	0.57044	.	.	ENSG00000004139	ENST00000457710;ENST00000003834	.	.	.	5.49	5.49	0.81192	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 2 (1);	0.180419	0.48286	D	0.000184	T	0.79851	0.4517	.	.	.	0.80722	D	1	D	0.69078	0.997	D	0.65874	0.939	T	0.81927	-0.0709	8	0.72032	D	0.01	-21.746	19.3712	0.94488	0.0:0.0:1.0:0.0	.	520	Q6SZW1	SARM1_HUMAN	Q	518;486	.	ENSP00000003834:E486Q	E	+	1	0	SARM1	23736349	1.000000	0.71417	0.947000	0.38551	0.668000	0.39293	9.819000	0.99357	2.558000	0.86282	0.655000	0.94253	GAG	SARM1	-	pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.731	SARM1-001	NOVEL	basic|appris_principal|exp_conf	protein_coding	SARM1	HGNC	protein_coding	OTTHUMT00000255679.3	G	NM_015077		26712222	+1	no_errors	ENST00000457710	ensembl	human	novel	70_37	missense	SNP	1.000	C
SARS	6301	genome.wustl.edu	37	1	109779449	109779449	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:109779449C>G	ENST00000234677.2	+	9	1332				SARS_ENST00000369923.4_Missense_Mutation_p.S427C|SARS_ENST00000468588.1_3'UTR	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase						gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CTCCATTTATCTACACAGAAC	0.403																																																	0													18.0	17.0	18.0					1																	109779449		876	1991	2867	SO:0001627	intron_variant	6301			BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.1257+279C>G	1.37:g.109779449C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	pfam_aa-tRNA-synt_IIb_cons-dom,pfam_Ser-tRNA-synth_1_N,superfamily_tRNA-bd_arm,pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II,prints_Ser-tRNA-ligase_type_1,tigrfam_Ser-tRNA-ligase_type_1	p.S427C	ENST00000234677.2	37	c.1280	CCDS795.1	1	.	.	.	.	.	.	.	.	.	.	c	13.76	2.332033	0.41297	.	.	ENSG00000031698	ENST00000369923	T	0.77750	-1.12	4.84	3.92	0.45320	.	0.297309	0.25280	N	0.031810	T	0.48095	0.1481	.	.	.	0.31941	N	0.610893	P	0.46327	0.876	B	0.33042	0.157	T	0.58070	-0.7701	9	0.56958	D	0.05	-5.855	8.3735	0.32430	0.0:0.8967:0.0:0.1033	.	427	Q5T5C7	.	C	427	ENSP00000358939:S427C	ENSP00000358939:S427C	S	+	2	0	SARS	109580972	0.022000	0.18835	1.000000	0.80357	0.999000	0.98932	0.933000	0.28897	2.699000	0.92147	0.655000	0.94253	TCT	SARS	-	pirsf_Ser-tRNA-ligase_type_1,pfscan_aa-tRNA-synth_II		0.403	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SARS	HGNC	protein_coding	OTTHUMT00000032394.2	C	NM_006513		109779449	+1	no_errors	ENST00000369923	ensembl	human	known	70_37	missense	SNP	1.000	G
SBF2	81846	genome.wustl.edu	37	11	10024173	10024173	+	Missense_Mutation	SNP	G	G	A	rs527564842		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:10024173G>A	ENST00000256190.8	-	7	820	c.683C>T	c.(682-684)tCt>tTt	p.S228F	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	228	DENN. {ECO:0000255|PROSITE- ProRule:PRU00304}.				cell death (GO:0008219)|myelination (GO:0042552)|positive regulation of Rab GTPase activity (GO:0032851)|protein tetramerization (GO:0051262)	membrane (GO:0016020)|vacuolar membrane (GO:0005774)	phosphatase activity (GO:0016791)|phosphatase regulator activity (GO:0019208)|phosphatidylinositol binding (GO:0035091)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GAAACTTGCAGAATGGAAGAG	0.348																																																	0													96.0	97.0	97.0					11																	10024173		2201	4294	6495	SO:0001583	missense	81846			AB051553	CCDS31427.1	11p15.3	2014-09-17	2004-11-12	2004-11-12	ENSG00000133812	ENSG00000133812		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	2135	protein-coding gene	gene with protein product	"""myotubularin related 13"""	607697	"""Charcot-Marie-Tooth neuropathy 4B2 (autosomal recessive, with myelin outfolding)"", ""DENN/MADD domain containing 7B"""	CMT4B2		10644431	Standard	NM_030962		Approved	KIAA1766, MTMR13, DENND7B	uc001mib.2	Q86WG5	OTTHUMG00000165890	ENST00000256190.8:c.683C>T	11.37:g.10024173G>A	ENSP00000256190:p.Ser228Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJF0|Q68DQ3|Q6P459|Q6PJD1|Q7Z325|Q7Z621|Q86VE2|Q96FE2|Q9C097	Missense_Mutation	SNP	pfam_SBF2,pfam_DENN_dom,pfam_uDENN_dom,pfam_Myotub-related,pfam_dDENN_dom,pfam_Pleckstrin_homology,pfam_GRAM,smart_uDENN_dom,smart_DENN_dom,smart_dDENN_dom,smart_GRAM,smart_Pleckstrin_homology,pfscan_DENN_dom,pfscan_uDENN_dom,pfscan_dDENN_dom,pfscan_Pleckstrin_homology	p.S228F	ENST00000256190.8	37	c.683	CCDS31427.1	11	.	.	.	.	.	.	.	.	.	.	G	21.8	4.204575	0.79127	.	.	ENSG00000133812	ENST00000256190	T	0.30182	1.54	5.52	3.65	0.41850	DENN (3);	0.000000	0.85682	D	0.000000	T	0.65428	0.2690	H	0.95917	3.74	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72564	-0.4255	9	.	.	.	.	10.5254	0.44945	0.0692:0.0:0.7969:0.1339	.	228	Q86WG5	MTMRD_HUMAN	F	228	ENSP00000256190:S228F	.	S	-	2	0	SBF2	9980749	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	9.869000	0.99810	0.688000	0.31529	0.591000	0.81541	TCT	SBF2	-	pfam_DENN_dom,smart_DENN_dom,pfscan_DENN_dom		0.348	SBF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SBF2	HGNC	protein_coding	OTTHUMT00000386911.2	G	NM_030962		10024173	-1	no_errors	ENST00000256190	ensembl	human	known	70_37	missense	SNP	1.000	A
ZBED9	114821	genome.wustl.edu	37	6	28543779	28543779	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:28543779C>G	ENST00000452236.2	-	3	1320	c.703G>C	c.(703-705)Gaa>Caa	p.E235Q	SCAND3_ENST00000530247.1_5'Flank	NM_052923.1	NP_443155.1														NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CTTTTGTTTTCCAGTAACCTT	0.348																																																	0													95.0	96.0	95.0					6																	28543779		2203	4300	6503	SO:0001583	missense	114821																														ENST00000452236.2:c.703G>C	6.37:g.28543779C>G	ENSP00000395259:p.Glu235Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN	p.E235Q	ENST00000452236.2	37	c.703	CCDS34355.1	6	.	.	.	.	.	.	.	.	.	.	C	14.89	2.671361	0.47781	.	.	ENSG00000232040	ENST00000452236	T	0.01495	4.83	2.54	2.54	0.30619	.	.	.	.	.	T	0.01835	0.0058	L	0.27053	0.805	0.23449	N	0.99766	D	0.57571	0.98	D	0.70227	0.968	T	0.53429	-0.8440	9	0.72032	D	0.01	.	8.7473	0.34594	0.0:1.0:0.0:0.0	.	235	Q6R2W3	SCND3_HUMAN	Q	235	ENSP00000395259:E235Q	ENSP00000395259:E235Q	E	-	1	0	SCAND3	28651758	0.860000	0.29831	0.867000	0.34043	0.936000	0.57629	1.142000	0.31540	1.735000	0.51646	0.585000	0.79938	GAA	SCAND3	-	NULL		0.348	SCAND3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	SCAND3	HGNC	protein_coding	OTTHUMT00000043551.3	C			28543779	-1	no_errors	ENST00000452236	ensembl	human	known	70_37	missense	SNP	0.874	G
SCCPDH	51097	genome.wustl.edu	37	1	246890254	246890254	+	Missense_Mutation	SNP	C	C	T	rs202160032		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:246890254C>T	ENST00000366510.3	+	2	627	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	84						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)	p.S84L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		AATCCAGCCTCGCTTGATGAA	0.383																																																	1	Substitution - Missense(1)	lung(1)											138.0	119.0	125.0					1																	246890254		2203	4300	6503	SO:0001583	missense	51097				CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.251C>T	1.37:g.246890254C>T	ENSP00000355467:p.Ser84Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAR0|Q9Y363	Missense_Mutation	SNP	pfam_Saccharopine_DH/HSpermid_syn	p.S84L	ENST00000366510.3	37	c.251	CCDS31084.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.150028	0.94645	.	.	ENSG00000143653	ENST00000366510	T	0.48201	0.82	6.17	5.25	0.73442	.	0.000000	0.85682	D	0.000000	T	0.76933	0.4057	H	0.94925	3.6	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.82723	-0.0316	10	0.87932	D	0	.	15.6661	0.77230	0.0:0.933:0.0:0.0669	.	84	Q8NBX0	SCPDL_HUMAN	L	84	ENSP00000355467:S84L	ENSP00000355467:S84L	S	+	2	0	SCCPDH	244956877	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.207000	0.65197	2.941000	0.99782	0.655000	0.94253	TCG	SCCPDH	-	pfam_Saccharopine_DH/HSpermid_syn		0.383	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCCPDH	HGNC	protein_coding	OTTHUMT00000096902.2	C	NM_016002		246890254	+1	no_errors	ENST00000366510	ensembl	human	known	70_37	missense	SNP	1.000	T
SCFD2	152579	genome.wustl.edu	37	4	54231379	54231379	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:54231379G>C	ENST00000401642.3	-	1	863	c.730C>G	c.(730-732)Cag>Gag	p.Q244E	SCFD2_ENST00000388940.4_Missense_Mutation_p.Q244E	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	244					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GCGATGACCTGACTTAAGGAA	0.517																																																	0													144.0	133.0	137.0					4																	54231379		2203	4300	6503	SO:0001583	missense	152579			AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.730C>G	4.37:g.54231379G>C	ENSP00000384182:p.Gln244Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5F3|Q8N8H0|Q96ED3	Missense_Mutation	SNP	pfam_Sec1-like,superfamily_Sec1-like	p.Q244E	ENST00000401642.3	37	c.730	CCDS33984.1	4	.	.	.	.	.	.	.	.	.	.	G	12.49	1.954184	0.34471	.	.	ENSG00000184178	ENST00000401642;ENST00000388940	T;T	0.78126	-1.15;-1.15	5.51	5.51	0.81932	.	0.111641	0.64402	D	0.000007	T	0.58352	0.2116	N	0.02916	-0.46	0.27707	N	0.945603	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.52953	-0.8506	10	0.42905	T	0.14	.	16.9624	0.86275	0.0:0.0:1.0:0.0	.	244;244	Q8WU76-2;Q8WU76	.;SCFD2_HUMAN	E	244	ENSP00000384182:Q244E;ENSP00000373592:Q244E	ENSP00000373592:Q244E	Q	-	1	0	SCFD2	53926136	1.000000	0.71417	0.968000	0.41197	0.002000	0.02628	5.475000	0.66787	2.873000	0.98535	0.561000	0.74099	CAG	SCFD2	-	NULL		0.517	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCFD2	HGNC	protein_coding	OTTHUMT00000361311.3	G	NM_152540		54231379	-1	no_errors	ENST00000401642	ensembl	human	known	70_37	missense	SNP	1.000	C
SCN4A	6329	genome.wustl.edu	37	17	62025267	62025267	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:62025267C>G	ENST00000435607.1	-	17	3377	c.3301G>C	c.(3301-3303)Gac>Cac	p.D1101H	SCN4A_ENST00000578147.1_Missense_Mutation_p.D1101H	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1101					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Diclofenac(DB00586)|Flecainide(DB01195)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	ATGAGGAAGTCGAGCCAGCAC	0.587																																																	0													75.0	78.0	77.0					17																	62025267		2185	4299	6484	SO:0001583	missense	6329			U24693		17q23.3	2012-02-26	2007-01-23					"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10591	protein-coding gene	gene with protein product		603967		HYKPP		1654742, 1659948, 16382098	Standard	XM_005257566		Approved	Nav1.4, HYPP, SkM1	uc002jds.1	P35499		ENST00000435607.1:c.3301G>C	17.37:g.62025267C>G	ENSP00000396320:p.Asp1101His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15478|Q16447|Q7Z6B1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfscan_IQ_motif_EF-hand-BS,prints_Na_channel_a4su,prints_Na_channel_asu,prints_PKD_2	p.D1101H	ENST00000435607.1	37	c.3301	CCDS45761.1	17	.	.	.	.	.	.	.	.	.	.	C	26.5	4.741069	0.89573	.	.	ENSG00000007314	ENST00000435607	D	0.99394	-5.82	4.47	4.47	0.54385	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99697	0.9885	H	0.98849	4.35	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.97042	0.9758	10	0.87932	D	0	.	16.6601	0.85238	0.0:1.0:0.0:0.0	.	1101	P35499	SCN4A_HUMAN	H	1101	ENSP00000396320:D1101H	ENSP00000396320:D1101H	D	-	1	0	SCN4A	59378999	1.000000	0.71417	0.995000	0.50966	0.971000	0.66376	7.598000	0.82745	2.502000	0.84385	0.462000	0.41574	GAC	SCN4A	-	pfam_Ion_trans_dom		0.587	SCN4A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN4A	HGNC	protein_coding		C	NM_000334		62025267	-1	no_errors	ENST00000435607	ensembl	human	known	70_37	missense	SNP	1.000	G
SCNN1G	6340	genome.wustl.edu	37	16	23197694	23197694	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:23197694C>G	ENST00000300061.2	+	2	245	c.102C>G	c.(100-102)ctC>ctG	p.L34L		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	34					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGTACTGCCTCAACACCAACA	0.617																																																	0													65.0	63.0	64.0					16																	23197694		2197	4300	6497	SO:0001819	synonymous_variant	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.102C>G	16.37:g.23197694C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.L34	ENST00000300061.2	37	c.102	CCDS10608.1	16																																																																																			SCNN1G	-	pfam_Na+channel_ASC,tigrfam_EnaC		0.617	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	C	NM_001039		23197694	+1	no_errors	ENST00000300061	ensembl	human	known	70_37	silent	SNP	0.329	G
SCNN1G	6340	genome.wustl.edu	37	16	23226541	23226541	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:23226541G>A	ENST00000300061.2	+	13	1844	c.1701G>A	c.(1699-1701)caG>caA	p.Q567Q	CTC-391G2.1_ENST00000563471.1_RNA	NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	567					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)|WW domain binding (GO:0050699)	p.Q567H(1)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GCCAGTGGCAGAAAGCCAAGG	0.572																																																	1	Substitution - Missense(1)	large_intestine(1)											90.0	86.0	88.0					16																	23226541		2197	4300	6497	SO:0001819	synonymous_variant	6340			U48937	CCDS10608.1	16p12	2012-02-28	2012-02-28		ENSG00000166828	ENSG00000166828		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10602	protein-coding gene	gene with protein product		600761	"""sodium channel, nonvoltage-gated 1, gamma"", ""sodium channel, non-voltage-gated 1, gamma"""			7490094	Standard	NM_001039		Approved	ENaCgamma, SCNEG	uc002dlm.1	P51170	OTTHUMG00000131609	ENST00000300061.2:c.1701G>A	16.37:g.23226541G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P78437|Q6PCC2|Q93023|Q93024|Q93025|Q93026|Q93027|Q96TD2	Silent	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.Q567	ENST00000300061.2	37	c.1701	CCDS10608.1	16																																																																																			SCNN1G	-	tigrfam_EnaC		0.572	SCNN1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCNN1G	HGNC	protein_coding	OTTHUMT00000254496.1	G	NM_001039		23226541	+1	no_errors	ENST00000300061	ensembl	human	known	70_37	silent	SNP	1.000	A
SCRIB	23513	genome.wustl.edu	37	8	144889724	144889724	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:144889724C>G	ENST00000320476.3	-	16	2182	c.2176G>C	c.(2176-2178)Gag>Cag	p.E726Q	SCRIB_ENST00000377533.3_Missense_Mutation_p.E645Q|SCRIB_ENST00000356994.2_Missense_Mutation_p.E726Q	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	726	Interaction with ARHGEF7.|Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GTACAGACCTCTTCCTCCTCA	0.622																																					Pancreas(51;966 1133 10533 14576 29674)												0													178.0	143.0	155.0					8																	144889724		2203	4300	6503	SO:0001583	missense	23513			AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.2176G>C	8.37:g.144889724C>G	ENSP00000322938:p.Glu726Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	pfam_PDZ,pfam_Leu-rich_rpt,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E726Q	ENST00000320476.3	37	c.2176	CCDS6411.1	8	.	.	.	.	.	.	.	.	.	.	c	22.1	4.238312	0.79800	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533;ENST00000377539	T;T;T	0.17691	2.26;2.26;2.26	4.18	4.18	0.49190	PDZ/DHR/GLGF (1);	.	.	.	.	T	0.27629	0.0679	L	0.34521	1.04	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.991;0.996	T	0.03259	-1.1055	9	0.10636	T	0.68	.	15.5191	0.75851	0.0:1.0:0.0:0.0	.	726;726	Q14160;Q14160-3	SCRIB_HUMAN;.	Q	726;726;645;95	ENSP00000349486:E726Q;ENSP00000322938:E726Q;ENSP00000366756:E645Q	ENSP00000322938:E726Q	E	-	1	0	SCRIB	144961712	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.425000	0.80255	1.892000	0.54788	0.550000	0.68814	GAG	SCRIB	-	superfamily_PDZ		0.622	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SCRIB	HGNC	protein_coding	OTTHUMT00000382215.1	C	NM_015356		144889724	-1	no_errors	ENST00000320476	ensembl	human	known	70_37	missense	SNP	1.000	G
SDAD1	55153	genome.wustl.edu	37	4	76911940	76911940	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:76911940G>C	ENST00000356260.5	-	1	173	c.55C>G	c.(55-57)Cta>Gta	p.L19V	RP11-630D6.5_ENST00000501239.2_RNA|SDAD1_ENST00000395711.4_Missense_Mutation_p.L19V	NM_018115.2	NP_060585.2	Q9NVU7	SDA1_HUMAN	SDA1 domain containing 1	19					actin cytoskeleton organization (GO:0030036)|protein transport (GO:0015031)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal large subunit export from nucleus (GO:0000055)	nucleolus (GO:0005730)				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	19			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGCTTGATTAGATTCTGTAAC	0.557																																																	0													114.0	115.0	115.0					4																	76911940		1977	4161	6138	SO:0001583	missense	55153			AF132198	CCDS3573.2, CCDS75147.1	4q21.21	2010-11-24			ENSG00000198301	ENSG00000198301			25537	protein-coding gene	gene with protein product						11483580	Standard	NM_001288984		Approved	FLJ10498	uc003hje.4	Q9NVU7	OTTHUMG00000130111	ENST00000356260.5:c.55C>G	4.37:g.76911940G>C	ENSP00000348596:p.Leu19Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32Q11|Q68D52|Q7Z5U4|Q9H831|Q9H9P6	Missense_Mutation	SNP	pfam_SDA1,pfam_Uncharacterised_NUC130/133_N,superfamily_ARM-type_fold	p.L19V	ENST00000356260.5	37	c.55	CCDS3573.2	4	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974287	0.74246	.	.	ENSG00000198301	ENST00000356260;ENST00000395711	T;T	0.74106	-0.81;-0.81	4.94	4.94	0.65067	Armadillo-type fold (1);	0.000000	0.64402	U	0.000007	T	0.71134	0.3304	M	0.81239	2.535	0.53688	D	0.999976	B;P	0.39748	0.398;0.686	B;B	0.38156	0.197;0.266	T	0.67632	-0.5621	10	0.16896	T	0.51	-3.4228	9.1353	0.36870	0.0965:0.0:0.9035:0.0	.	19;19	E7EW05;Q9NVU7	.;SDA1_HUMAN	V	19	ENSP00000348596:L19V;ENSP00000379061:L19V	ENSP00000348596:L19V	L	-	1	2	SDAD1	77130964	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	3.441000	0.52893	2.559000	0.86315	0.561000	0.74099	CTA	SDAD1	-	superfamily_ARM-type_fold		0.557	SDAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDAD1	HGNC	protein_coding	OTTHUMT00000252418.3	G	NM_018115		76911940	-1	no_errors	ENST00000356260	ensembl	human	known	70_37	missense	SNP	1.000	C
SDHA	6389	genome.wustl.edu	37	5	224575	224575	+	Missense_Mutation	SNP	G	G	A	rs199615452		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:224575G>A	ENST00000264932.6	+	3	366	c.251G>A	c.(250-252)gGg>gAg	p.G84E	SDHA_ENST00000504309.1_Missense_Mutation_p.G84E|SDHA_ENST00000510361.1_Missense_Mutation_p.G84E	NM_004168.2	NP_004159.2	P31040	SDHA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	84					cellular metabolic process (GO:0044237)|nervous system development (GO:0007399)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|tricarboxylic acid cycle (GO:0006099)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)	flavin adenine dinucleotide binding (GO:0050660)|succinate dehydrogenase (ubiquinone) activity (GO:0008177)			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TCTGAGGCAGGGTTTAATACA	0.522									Familial Paragangliomas																																								0													121.0	119.0	120.0					5																	224575		2203	4300	6503	SO:0001583	missense	6389	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss	BC001380	CCDS3853.1	5p15	2014-09-17			ENSG00000073578	ENSG00000073578		"""Mitochondrial respiratory chain complex / Complex II"""	10680	protein-coding gene	gene with protein product		600857		SDH2		7798181	Standard	XM_005248329		Approved	FP, SDHF	uc003jao.4	P31040	OTTHUMG00000090275	ENST00000264932.6:c.251G>A	5.37:g.224575G>A	ENSP00000264932:p.Gly84Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5J6|B4DJ60|E9PBJ5|Q16395|Q59GW8|Q8IW48|Q9UMY5	Missense_Mutation	SNP	pfam_FAD_bind_dom,pfam_Fum_Rdtase/Succ_DH_flav-like_C,superfamily_Fum_Rdtase/Succ_DH_flav-like_C,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg	p.G84E	ENST00000264932.6	37	c.251	CCDS3853.1	5	.	.	.	.	.	.	.	.	.	.	g	24.9	4.577752	0.86645	.	.	ENSG00000073578	ENST00000264932;ENST00000327872;ENST00000504309;ENST00000510361	D;D;D	0.83250	-1.7;-1.7;-1.7	5.56	5.56	0.83823	Fumarate reductase/succinate dehydrogenase flavoprotein, N-terminal (1);	0.000000	0.85682	U	0.000000	D	0.93278	0.7858	M	0.92077	3.27	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.997;0.975;0.996;0.998;0.998	D	0.94344	0.7573	10	0.87932	D	0	.	17.4364	0.87553	0.0:0.0:1.0:0.0	.	84;84;84;84;90	E9PBJ5;B4DYN5;D6RFM5;P31040;Q59GW8	.;.;.;DHSA_HUMAN;.	E	84	ENSP00000264932:G84E;ENSP00000426514:G84E;ENSP00000427703:G84E	ENSP00000264932:G84E	G	+	2	0	SDHA	277575	1.000000	0.71417	0.976000	0.42696	0.562000	0.35680	9.385000	0.97223	2.794000	0.96219	0.539000	0.68188	GGG	SDHA	-	pfam_FAD_bind_dom,tigrfam_Succ_DH_flav_su_fwd,tigrfam_Succ_Dhase_FrdA_Gneg		0.522	SDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHA	HGNC	protein_coding	OTTHUMT00000206599.1	G	NM_004168		224575	+1	no_errors	ENST00000264932	ensembl	human	known	70_37	missense	SNP	1.000	A
SDHC	6391	genome.wustl.edu	37	1	161326588	161326588	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:161326588C>T	ENST00000367975.2	+	5	512	c.363C>T	c.(361-363)gtC>gtT	p.V121V	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Silent_p.V87V|SDHC_ENST00000392169.2_Silent_p.V68V|SDHC_ENST00000470743.3_3'UTR|SDHC_ENST00000342751.4_Intron	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	121					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidation-reduction process (GO:0055114)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex II (GO:0005749)|mitochondrion (GO:0005739)|respiratory chain complex II (GO:0045273)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|succinate dehydrogenase activity (GO:0000104)			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	TTGCACTTGTCTTCCCTCTCA	0.498			"""Mis, N, F"""			"""paraganglioma, pheochromocytoma"""			Familial Paragangliomas;Carney-Stratakis syndrome																														yes	Rec		Familial paraganglioma	1	1q21	6391	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa"""		O	0													172.0	161.0	165.0					1																	161326588		2203	4300	6503	SO:0001819	synonymous_variant	6391	Familial Cancer Database	Hereditary Glomus Tumors, Familial Paragangliomas, Hereditary Paragangliomas, type 1-3: PGL1, PGL2, PGL3, incl. Familial Carotid Body Paraganglioma and Sensorineural Hearing Loss;Carney-Stratakis dyad, Paraganglioma-Gastric Stromal Sarcoma dyad	D49737	CCDS1230.1, CCDS41431.1, CCDS41432.1, CCDS44263.1, CCDS60330.1	1q23.3	2014-09-17	2002-08-29		ENSG00000143252	ENSG00000143252		"""Mitochondrial respiratory chain complex / Complex II"""	10682	protein-coding gene	gene with protein product		602413	"""succinate dehydrogenase complex, subunit C, integral membrane protein, 15kD"""	PGL3		9533030, 12658451	Standard	NM_001278172		Approved		uc001gag.3	Q99643	OTTHUMG00000034468	ENST00000367975.2:c.363C>T	1.37:g.161326588C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O75609|Q3C259|Q3C2D8|Q3C2H4|Q5VTH3	Silent	SNP	pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556	p.V121	ENST00000367975.2	37	c.363	CCDS1230.1	1																																																																																			SDHC	-	pfam_Succ_DH_Fumarate_Rdtase_TM-su,pirsf_Succ_DH_cytb560,tigrfam_Succ_DH_cytb556		0.498	SDHC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SDHC	HGNC	protein_coding	OTTHUMT00000083316.2	C	NM_003001		161326588	+1	no_errors	ENST00000367975	ensembl	human	known	70_37	silent	SNP	0.921	T
SDK2	54549	genome.wustl.edu	37	17	71429875	71429875	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:71429875C>T	ENST00000392650.3	-	10	1308	c.1308G>A	c.(1306-1308)caG>caA	p.Q436Q	SDK2_ENST00000388726.3_Silent_p.Q436Q	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	436	Ig-like C2-type 5.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATCTACCTTTCTGCCAAGTGA	0.582																																																	0													40.0	29.0	33.0					17																	71429875		2203	4300	6503	SO:0001819	synonymous_variant	54549			AB040947	CCDS45769.1	17q21.31	2013-02-11	2011-12-09		ENSG00000069188	ENSG00000069188		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19308	protein-coding gene	gene with protein product		607217	"""sidekick homolog 2 (chicken)"""			12230981, 15213259	Standard	NM_001144952		Approved	FLJ10832, KIAA1514	uc010dfm.3	Q58EX2	OTTHUMG00000152726	ENST00000392650.3:c.1308G>A	17.37:g.71429875C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMR8|C9JA57|Q86VY3|Q9NTD2|Q9NVB3|Q9P214	Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q436	ENST00000392650.3	37	c.1308	CCDS45769.1	17	.	.	.	.	.	.	.	.	.	.	C	9.675	1.147689	0.21288	.	.	ENSG00000069188	ENST00000416616	.	.	.	4.8	2.71	0.32032	.	.	.	.	.	T	0.62319	0.2418	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.60786	-0.7194	4	.	.	.	.	12.1361	0.53972	0.0:0.8493:0.0:0.1507	.	.	.	.	K	341	.	.	E	-	1	0	SDK2	68941470	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	2.586000	0.46119	1.117000	0.41842	0.462000	0.41574	GAA	SDK2	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.582	SDK2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SDK2	HGNC	protein_coding	OTTHUMT00000327598.2	C	NM_019064		71429875	-1	no_errors	ENST00000392650	ensembl	human	known	70_37	silent	SNP	1.000	T
SEC14L2	23541	genome.wustl.edu	37	22	30805241	30805241	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:30805241C>G	ENST00000312932.9	+	6	749	c.489C>G	c.(487-489)ctC>ctG	p.L163L	SEC14L2_ENST00000403484.1_Silent_p.L89L|SEC14L2_ENST00000459728.1_3'UTR|SEC14L2_ENST00000402592.3_Silent_p.L80L|SEC14L2_ENST00000405717.3_Silent_p.L163L|RP4-539M6.19_ENST00000439838.1_5'Flank	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	163	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.				positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cholesterol biosynthetic process (GO:0045540)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	phospholipid binding (GO:0005543)|transporter activity (GO:0005215)|vitamin E binding (GO:0008431)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TCAAGCATCTCTGGAAGCCTG	0.597																																																	0													61.0	65.0	64.0					22																	30805241		2203	4300	6503	SO:0001819	synonymous_variant	23541			AL096881	CCDS13876.1, CCDS46685.1, CCDS56228.1	22q12.2	2010-08-19	2001-11-28		ENSG00000100003	ENSG00000100003			10699	protein-coding gene	gene with protein product	"""supernatant protein factor"""	607558	"""SEC14 (S. cerevisiae)-like 2"""	C22orf6		10591208	Standard	NM_033382		Approved	TAP, SPF, KIAA1186, KIAA1658	uc003ahr.3	O76054	OTTHUMG00000151024	ENST00000312932.9:c.489C>G	22.37:g.30805241C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8Q1|F5H3U4|Q53EQ2|Q6PD61|Q9ULN4	Silent	SNP	pfam_CRAL-TRIO_dom,pfam_CRAL/TRIO_N_dom,superfamily_CRAL-TRIO_dom,superfamily_GOLD,superfamily_CRAL/TRIO_N_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_GOLD,prints_CRAL-bd_toc_tran	p.L163	ENST00000312932.9	37	c.489	CCDS13876.1	22																																																																																			SEC14L2	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.597	SEC14L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC14L2	HGNC	protein_coding	OTTHUMT00000321018.4	C	NM_012429		30805241	+1	no_errors	ENST00000312932	ensembl	human	known	70_37	silent	SNP	1.000	G
SEC22B	9554	genome.wustl.edu	37	1	145116215	145116215	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:145116215G>C	ENST00000453618.1	+	0	1301							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport (GO:0006888)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)											TTCTCTGATGGAGCCATCAAT	0.378																																																	0																																												9554			AF047442		1q21.1	2012-04-20	2010-03-12	2006-04-25	ENSG00000223380				10700	protein-coding gene	gene with protein product		604029	"""SEC22, vesicle trafficking protein (S. cerevisiae)-like 1"", ""SEC22 vesicle trafficking protein-like 1 (S. cerevisiae)"", ""SEC22 vesicle trafficking protein homolog B (S. cerevisiae)"""	SEC22L1		9094723, 16354670	Standard	NM_004892		Approved	sec22b, ERS-24	uc031poa.1	O75396	OTTHUMG00000013745		1.37:g.145116215G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1G0	RNA	SNP	-	NULL	ENST00000453618.1	37	NULL		1																																																																																			SEC22B	-	-		0.378	SEC22B-001	KNOWN	basic	processed_transcript	SEC22B	HGNC	processed_transcript	OTTHUMT00000038523.5	G	NM_004892		145116215	+1	no_errors	ENST00000453618	ensembl	human	known	70_37	rna	SNP	0.945	C
SEC23B	10483	genome.wustl.edu	37	20	18505236	18505236	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:18505236C>T	ENST00000336714.3	+	5	958	c.526C>T	c.(526-528)Cat>Tat	p.H176Y	SEC23B_ENST00000262544.2_Missense_Mutation_p.H176Y|SEC23B_ENST00000377465.1_Missense_Mutation_p.H176Y|SEC23B_ENST00000377475.3_Missense_Mutation_p.H176Y	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	176					ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|endomembrane system (GO:0012505)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						GGTGCAGGTTCATGAGCTAAG	0.463																																																	0													150.0	132.0	138.0					20																	18505236		2203	4300	6503	SO:0001583	missense	10483			X97065	CCDS13137.1	20p11.23	2010-02-09	2001-11-28		ENSG00000101310	ENSG00000101310			10702	protein-coding gene	gene with protein product		610512	"""Sec23 (S. cerevisiae) homolog B"", ""congenital dyserythropoietic anemia, type II"""	CDAN2		8898360, 10329445, 19621418	Standard	NM_032985		Approved	CDA-II, CDAII, HEMPAS	uc002wrb.2	Q15437	OTTHUMG00000031976	ENST00000336714.3:c.526C>T	20.37:g.18505236C>T	ENSP00000338844:p.His176Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW33|Q503A9|Q5W183|Q9BS15|Q9BSI2|Q9H1D7	Missense_Mutation	SNP	pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Gelsolin_dom,pfam_Znf_Sec23_Sec24,superfamily_Sec23/24_helical_dom,superfamily_Znf_Sec23_Sec24	p.H176Y	ENST00000336714.3	37	c.526	CCDS13137.1	20	.	.	.	.	.	.	.	.	.	.	C	24.0	4.480877	0.84747	.	.	ENSG00000101310	ENST00000450074;ENST00000336714;ENST00000262544;ENST00000377475;ENST00000377465	T;T;T;T;T	0.71579	-0.58;-0.58;-0.58;-0.58;-0.58	4.91	4.91	0.64330	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	T	0.78855	0.4349	M	0.77313	2.365	0.80722	D	1	B;B	0.31125	0.309;0.276	B;B	0.43018	0.267;0.405	T	0.78703	-0.2101	10	0.45353	T	0.12	-25.5328	17.2703	0.87099	0.0:1.0:0.0:0.0	.	158;176	B4DJW8;Q15437	.;SC23B_HUMAN	Y	176	ENSP00000403971:H176Y;ENSP00000338844:H176Y;ENSP00000262544:H176Y;ENSP00000366695:H176Y;ENSP00000366685:H176Y	ENSP00000262544:H176Y	H	+	1	0	SEC23B	18453236	1.000000	0.71417	0.961000	0.40146	0.981000	0.71138	5.708000	0.68377	2.560000	0.86352	0.591000	0.81541	CAT	SEC23B	-	pfam_Sec23/24_trunk_dom		0.463	SEC23B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEC23B	HGNC	protein_coding	OTTHUMT00000078184.5	C			18505236	+1	no_errors	ENST00000262544	ensembl	human	known	70_37	missense	SNP	1.000	T
SEMA6C	10500	genome.wustl.edu	37	1	151106454	151106454	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:151106454G>C	ENST00000341697.3	-	18	3451				SEMA6C_ENST00000479820.1_5'Flank|RP11-68I18.10_ENST00000563624.1_RNA			Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C						axon guidance (GO:0007411)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGAACTCCAAGAGTGGAAGAC	0.617																																																	0																																										SO:0001627	intron_variant	10500			AF339154	CCDS984.1, CCDS53363.1, CCDS53364.1	1q21.2	2008-02-05			ENSG00000143434	ENSG00000143434		"""Semaphorins"""	10740	protein-coding gene	gene with protein product	"""m-Sema Y2"""	609294				12110693	Standard	NM_030913		Approved	KIAA1869	uc001ewv.3	Q9H3T2	OTTHUMG00000012261	ENST00000341697.3:c.1759+422C>G	1.37:g.151106454G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DV15|Q5JR71|Q5JR72|Q5JR73|Q8WXT8|Q8WXT9|Q8WXU0|Q96JF8	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.L613V	ENST00000341697.3	37	c.1837	CCDS984.1	1	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295421	0.40594	.	.	ENSG00000143434	ENST00000368912;ENST00000368913	T;T	0.43294	0.95;0.95	4.64	3.72	0.42706	.	0.896444	0.09379	N	0.810298	T	0.42630	0.1211	.	.	.	0.80722	D	1	D;P	0.56035	0.974;0.838	D;B	0.70487	0.969;0.331	T	0.37197	-0.9716	9	0.17369	T	0.5	.	10.289	0.43584	0.0:0.0:0.8032:0.1968	.	573;613	Q9H3T2-2;Q9H3T2-3	.;.	V	573;613	ENSP00000357908:L573V;ENSP00000357909:L613V	ENSP00000357908:L573V	L	-	1	0	SEMA6C	149373078	0.990000	0.36364	1.000000	0.80357	0.986000	0.74619	0.683000	0.25349	1.293000	0.44690	0.561000	0.74099	CTT	SEMA6C	-	NULL		0.617	SEMA6C-004	KNOWN	alternative_5_UTR|mRNA_start_NF|basic|CCDS	protein_coding	SEMA6C	HGNC	protein_coding	OTTHUMT00000034074.1	G	NM_030913		151106454	-1	no_errors	ENST00000368913	ensembl	human	known	70_37	missense	SNP	1.000	C
SEMA6D	80031	genome.wustl.edu	37	15	48052058	48052058	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:48052058C>T	ENST00000316364.5	+	2	502	c.63C>T	c.(61-63)gtC>gtT	p.V21V	SEMA6D_ENST00000389433.2_Silent_p.V21V|SEMA6D_ENST00000389425.3_Silent_p.V21V|SEMA6D_ENST00000536845.2_Silent_p.V21V|SEMA6D_ENST00000389432.2_Silent_p.V21V|SEMA6D_ENST00000358066.4_Silent_p.V21V|SEMA6D_ENST00000354744.4_Silent_p.V21V|SEMA6D_ENST00000558816.1_Silent_p.V21V|SEMA6D_ENST00000558014.1_Silent_p.V21V|SEMA6D_ENST00000537942.1_Silent_p.V21V|SEMA6D_ENST00000355997.3_Silent_p.V21V|SEMA6D_ENST00000389428.3_Silent_p.V21V	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	21					axon guidance (GO:0007411)|negative regulation of smooth muscle cell migration (GO:0014912)|positive regulation of smooth muscle cell migration (GO:0014911)|ventricular system development (GO:0021591)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGAGGGCAGTCAGCTTTCCTG	0.483																																																	0													188.0	145.0	160.0					15																	48052058		2198	4297	6495	SO:0001819	synonymous_variant	80031			AF389430	CCDS32224.1, CCDS32225.1, CCDS32226.1, CCDS32227.1, CCDS32228.1, CCDS32229.1	15q21.1	2006-09-18				ENSG00000137872		"""Semaphorins"""	16770	protein-coding gene	gene with protein product		609295				12110693, 14977921	Standard	NM_020858		Approved	KIAA1479, FLJ11598	uc001zvy.3	Q8NFY4		ENST00000316364.5:c.63C>T	15.37:g.48052058C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF10|A6NM95|A6NNK1|A7E2A0|Q8NFY3|Q8NFY5|Q8NFY6|Q8NFY7|Q9P249	Silent	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,pfscan_Semaphorin/CD100_Ag	p.V21	ENST00000316364.5	37	c.63	CCDS32225.1	15																																																																																			SEMA6D	-	NULL		0.483	SEMA6D-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SEMA6D	HGNC	protein_coding	OTTHUMT00000416868.1	C	NM_024966		48052058	+1	no_errors	ENST00000316364	ensembl	human	known	70_37	silent	SNP	1.000	T
SEPT12	124404	genome.wustl.edu	37	16	4833397	4833397	+	Intron	SNP	C	C	A	rs190751029	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:4833397C>A	ENST00000268231.8	-	7	990				SEPT12_ENST00000396693.5_Intron|SEPT12_ENST00000591861.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12						cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						AAAGATGAGTCTTTGGATGGA	0.473																																																	0																																										SO:0001627	intron_variant	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.726+65G>T	16.37:g.4833397C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6B0|Q1PBH0|Q96LL0	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pfam_Cell_div_FtsK/SpoIIIE,pirsf_Septin	p.K264N	ENST00000268231.8	37	c.792	CCDS10522.1	16																																																																																			SEPT12	-	pirsf_Septin		0.473	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	C	NM_144605		4833397	-1	no_errors	ENST00000587603	ensembl	human	known	70_37	missense	SNP	0.000	A
SEPT12	124404	genome.wustl.edu	37	16	4833501	4833501	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:4833501C>A	ENST00000268231.8	-	7	951	c.688G>T	c.(688-690)Gag>Tag	p.E230*	SEPT12_ENST00000396693.5_Nonsense_Mutation_p.E184*|SEPT12_ENST00000591861.1_5'Flank	NM_144605.4	NP_653206.2	Q8IYM1	SEP12_HUMAN	septin 12	230	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cleavage furrow (GO:0032154)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|septin complex (GO:0031105)|sperm annulus (GO:0097227)|spindle (GO:0005819)|stress fiber (GO:0001725)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						TTGATGTCCTCGTCAAAGCAC	0.577																																																	0													199.0	174.0	182.0					16																	4833501		2197	4300	6497	SO:0001587	stop_gained	124404			AK058139	CCDS10522.1, CCDS53987.1	16p13.3	2013-01-21			ENSG00000140623	ENSG00000140623		"""Septins"""	26348	protein-coding gene	gene with protein product		611562				14611653, 15915442	Standard	NM_001154458		Approved	FLJ25410	uc002cxq.3	Q8IYM1	OTTHUMG00000129481	ENST00000268231.8:c.688G>T	16.37:g.4833501C>A	ENSP00000268231:p.Glu230*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P6B0|Q1PBH0|Q96LL0	Nonsense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_AIG1,pirsf_Septin	p.E230*	ENST00000268231.8	37	c.688	CCDS10522.1	16	.	.	.	.	.	.	.	.	.	.	C	24.1	4.488592	0.84854	.	.	ENSG00000140623	ENST00000396693;ENST00000268231	.	.	.	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.0845	0.59132	0.0:0.8373:0.1627:0.0	.	.	.	.	X	184;230	.	ENSP00000268231:E230X	E	-	1	0	SEPT12	4773502	1.000000	0.71417	0.937000	0.37676	0.263000	0.26337	5.873000	0.69644	2.481000	0.83766	0.462000	0.41574	GAG	SEPT12	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.577	SEPT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT12	HGNC	protein_coding	OTTHUMT00000251645.2	C	NM_144605		4833501	-1	no_errors	ENST00000268231	ensembl	human	known	70_37	nonsense	SNP	0.998	A
SEPT3	55964	genome.wustl.edu	37	22	42385647	42385647	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:42385647G>A	ENST00000396426.3	+	6	883	c.628G>A	c.(628-630)Gac>Aac	p.D210N	SEPT3_ENST00000396425.3_Missense_Mutation_p.D210N|SEPT3_ENST00000291236.11_Missense_Mutation_p.D146N|SEPT3_ENST00000328414.8_3'UTR|SEPT3_ENST00000406029.1_Missense_Mutation_p.D146N	NM_145733.2	NP_663786.2	Q9UH03	SEPT3_HUMAN	septin 3	210	Septin-type G.				cell cycle (GO:0007049)|cell division (GO:0051301)	cell junction (GO:0030054)|septin complex (GO:0031105)|synapse (GO:0045202)	GTP binding (GO:0005525)			breast(1)|kidney(3)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17						TGCTAAGGCTGACACCATGAC	0.517																																																	0													164.0	131.0	143.0					22																	42385647		2203	4300	6503	SO:0001583	missense	55964			AF285107	CCDS14026.2, CCDS14027.2	22q13.2	2013-01-21			ENSG00000100167	ENSG00000100167		"""Septins"""	10750	protein-coding gene	gene with protein product		608314		SEP3			Standard	NM_019106		Approved		uc003bbr.4	Q9UH03	OTTHUMG00000030494	ENST00000396426.3:c.628G>A	22.37:g.42385647G>A	ENSP00000379704:p.Asp210Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AHR0|Q2NKJ7|Q59GF7|Q6IBZ6|Q8N3P3|Q9HD35	Missense_Mutation	SNP	pfam_Cell_div_GTP-bd,pfam_Ribosome_biogen_GTPase_RsgA,pfam_AIG1,pirsf_Septin,prints_Septin3	p.D210N	ENST00000396426.3	37	c.628	CCDS14026.2	22	.	.	.	.	.	.	.	.	.	.	G	36	5.661517	0.96734	.	.	ENSG00000100167	ENST00000396426;ENST00000406029;ENST00000396425;ENST00000291236	T;T;T;T	0.81078	-1.45;-1.45;-1.45;-1.45	5.21	5.21	0.72293	.	0.000000	0.85682	D	0.000000	D	0.93135	0.7814	H	0.95780	3.72	0.80722	D	1	D;D;D;D	0.89917	0.997;1.0;0.996;0.997	D;D;D;D	0.97110	0.994;1.0;0.99;0.996	D	0.94894	0.8050	9	.	.	.	.	19.1319	0.93412	0.0:0.0:1.0:0.0	.	146;146;210;210	B7Z686;B1AHR1;Q9UH03-2;Q9UH03	.;.;.;SEPT3_HUMAN	N	210;146;210;146	ENSP00000379704:D210N;ENSP00000383956:D146N;ENSP00000379703:D210N;ENSP00000291236:D146N	.	D	+	1	0	SEPT3	40715593	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.830000	0.99415	2.605000	0.88082	0.655000	0.94253	GAC	SEPT3	-	pfam_Cell_div_GTP-bd,pirsf_Septin		0.517	SEPT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	SEPT3	HGNC	protein_coding	OTTHUMT00000322051.1	G	NM_145734		42385647	+1	no_errors	ENST00000396426	ensembl	human	known	70_37	missense	SNP	1.000	A
SERPINA13P	388007	genome.wustl.edu	37	14	95107197	95107197	+	RNA	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:95107197G>A	ENST00000469935.1	+	0	136					NR_015340.1		Q6UXR4	SPA13_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13, pseudogene						negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)										ccaaggtcctgagaggcaagg	0.567																																																	0													48.0	50.0	49.0					14																	95107197		2043	4196	6239			388007			AY358238		14q32.13	2014-02-18	2012-10-03	2012-10-03	ENSG00000187483	ENSG00000187483		"""Serine (or cysteine) peptidase inhibitors"""	30909	pseudogene	pseudogene			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"", ""serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 13"""	SERPINA13		15014966, 16395595, 24172014	Standard	NR_015340		Approved	UNQ6121	uc001ydt.3	Q6UXR4	OTTHUMG00000150191		14.37:g.95107197G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000469935.1	37	NULL		14																																																																																			SERPINA13P	-	-		0.567	SERPINA13P-002	KNOWN	basic	processed_transcript	SERPINA13P	HGNC	pseudogene	OTTHUMT00000316754.1	G	NR_015340		95107197	+1	no_errors	ENST00000469935	ensembl	human	known	70_37	rna	SNP	0.000	A
SERPINC1	462	genome.wustl.edu	37	1	173878880	173878880	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:173878880C>T	ENST00000367698.3	-	5	1081	c.963G>A	c.(961-963)gaG>gaA	p.E321E	SERPINC1_ENST00000494024.1_5'Flank	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	321					blood coagulation (GO:0007596)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of inflammatory response (GO:0050728)|regulation of blood coagulation, intrinsic pathway (GO:2000266)|regulation of proteolysis (GO:0030162)|response to nutrient (GO:0007584)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protease binding (GO:0002020)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Ardeparin(DB00407)|Dalteparin(DB06779)|Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)|Nadroparin(DB08813)|Sulodexide(DB06271)|Tinzaparin(DB06822)	CCAGGCTCTTCTCAGGCTTGG	0.567																																																	0													141.0	132.0	135.0					1																	173878880		2203	4300	6503	SO:0001819	synonymous_variant	462			X68793	CCDS1313.1	1q25.1	2014-02-18	2005-08-18		ENSG00000117601	ENSG00000117601		"""Serine (or cysteine) peptidase inhibitors"""	775	protein-coding gene	gene with protein product	"""antithrombin III"", ""signal peptide antithrombin part 1"", ""coding sequence signal peptide antithrombin part 1"", ""antithrombin (aa 375-432)"""	107300	"""serine (or cysteine) proteinase inhibitor, clade C (antithrombin), member 1"""	AT3		3979120, 24172014	Standard	NM_000488		Approved	ATIII, MGC22579	uc001gjt.3	P01008	OTTHUMG00000037276	ENST00000367698.3:c.963G>A	1.37:g.173878880C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6P0|P78439|P78447|Q13815|Q5TC78|Q7KZ43|Q7KZ97|Q9UC78	Silent	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom	p.E321	ENST00000367698.3	37	c.963	CCDS1313.1	1																																																																																			SERPINC1	-	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom		0.567	SERPINC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERPINC1	HGNC	protein_coding	OTTHUMT00000090734.1	C	NM_000488		173878880	-1	no_errors	ENST00000367698	ensembl	human	known	70_37	silent	SNP	0.018	T
SERTAD3	29946	genome.wustl.edu	37	19	40946982	40946982	+	3'UTR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:40946982C>G	ENST00000322354.3	-	0	1502				SERTAD3_ENST00000601217.1_5'UTR|CTC-492K19.4_ENST00000599050.1_RNA|SERTAD3_ENST00000392028.4_3'UTR	NM_203344.2	NP_976219.1	Q9UJW9	SRTD3_HUMAN	SERTA domain containing 3						negative regulation of cell growth (GO:0030308)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(1)|large_intestine(4)|lung(2)	7			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCCACCCCCTCAAGGTGCAAG	0.602																																																	0																																										SO:0001624	3_prime_UTR_variant	29946			AF192529	CCDS12558.1	19q13.2	2008-02-05				ENSG00000167565			17931	protein-coding gene	gene with protein product	"""RPA-binding trans-activator"""	612125				10982866, 11331592	Standard	NM_013368		Approved	RBT1	uc002onv.4	Q9UJW9		ENST00000322354.3:c.*415G>C	19.37:g.40946982C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQB3|Q96CQ2	RNA	SNP	-	NULL	ENST00000322354.3	37	NULL	CCDS12558.1	19																																																																																			SERTAD3	-	-		0.602	SERTAD3-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	SERTAD3	HGNC	protein_coding	OTTHUMT00000462573.1	C	NM_013368		40946982	-1	no_errors	ENST00000601217	ensembl	human	known	70_37	rna	SNP	0.000	G
SESN2	83667	genome.wustl.edu	37	1	28600017	28600017	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:28600017C>G	ENST00000253063.3	+	6	1220	c.899C>G	c.(898-900)tCa>tGa	p.S300*		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	300					autophagy (GO:0006914)|fatty acid beta-oxidation (GO:0006635)|glucose import (GO:0046323)|mitochondrial DNA metabolic process (GO:0032042)|protein kinase B signaling (GO:0043491)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of response to reactive oxygen species (GO:1901031)|response to glucose (GO:0009749)|response to insulin (GO:0032868)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GTGACCCCCTCAGGTACAGGG	0.622																																																	0													22.0	25.0	24.0					1																	28600017		2200	4300	6500	SO:0001587	stop_gained	83667			AY123223	CCDS321.1	1p35.2	2008-02-05			ENSG00000130766	ENSG00000130766			20746	protein-coding gene	gene with protein product		607767				12607115, 12203114	Standard	NM_031459		Approved	SES2, DKFZp761M0212, HI95, SEST2	uc001bps.3	P58004	OTTHUMG00000003532	ENST00000253063.3:c.899C>G	1.37:g.28600017C>G	ENSP00000253063:p.Ser300*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7D0|Q96SI5	Nonsense_Mutation	SNP	pfam_PA26	p.S300*	ENST00000253063.3	37	c.899	CCDS321.1	1	.	.	.	.	.	.	.	.	.	.	C	40	8.029606	0.98619	.	.	ENSG00000130766	ENST00000253063	.	.	.	5.09	5.09	0.68999	.	0.808278	0.11113	N	0.598371	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-2.436	16.2648	0.82571	0.0:1.0:0.0:0.0	.	.	.	.	X	300	.	ENSP00000253063:S300X	S	+	2	0	SESN2	28472604	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	6.816000	0.75247	2.362000	0.80069	0.491000	0.48974	TCA	SESN2	-	pfam_PA26		0.622	SESN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SESN2	HGNC	protein_coding	OTTHUMT00000009840.1	C			28600017	+1	no_errors	ENST00000253063	ensembl	human	known	70_37	nonsense	SNP	1.000	G
SERTAD4	56256	genome.wustl.edu	37	1	210415303	210415303	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:210415303C>T	ENST00000367012.3	+	4	922	c.692C>T	c.(691-693)tCc>tTc	p.S231F	SERTAD4_ENST00000490620.1_3'UTR	NM_019605.3	NP_062551.1	Q9NUC0	SRTD4_HUMAN	SERTA domain containing 4	231	Ser-rich.					nucleus (GO:0005634)				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0237)|all cancers(67;0.127)		tcttcctcttcctctccccct	0.493																																																	0													76.0	71.0	73.0					1																	210415303		2203	4300	6503	SO:0001583	missense	56256			BC012083	CCDS1494.1	1q32.1-q41	2008-02-05			ENSG00000082497	ENSG00000082497			25236	protein-coding gene	gene with protein product						12477932	Standard	NM_019605		Approved	DJ667H12.2	uc001hhy.3	Q9NUC0	OTTHUMG00000036391	ENST00000367012.3:c.692C>T	1.37:g.210415303C>T	ENSP00000355979:p.Ser231Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD32	Missense_Mutation	SNP	pfam_SERTA,pfscan_SERTA	p.S231F	ENST00000367012.3	37	c.692	CCDS1494.1	1	.	.	.	.	.	.	.	.	.	.	C	10.32	1.317637	0.23994	.	.	ENSG00000082497	ENST00000367012	.	.	.	5.33	4.41	0.53225	.	0.321368	0.27336	N	0.019829	T	0.24160	0.0585	N	0.24115	0.695	0.28910	N	0.892777	P	0.48162	0.906	B	0.41571	0.36	T	0.11891	-1.0569	9	0.62326	D	0.03	-7.2096	8.2415	0.31662	0.0:0.7588:0.1565:0.0847	.	231	Q9NUC0	SRTD4_HUMAN	F	231	.	ENSP00000355979:S231F	S	+	2	0	SERTAD4	208481926	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	2.372000	0.44257	1.353000	0.45828	0.655000	0.94253	TCC	SERTAD4	-	NULL		0.493	SERTAD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERTAD4	HGNC	protein_coding	OTTHUMT00000088577.1	C	NM_019605		210415303	+1	no_errors	ENST00000367012	ensembl	human	known	70_37	missense	SNP	1.000	T
SETD5	55209	genome.wustl.edu	37	3	9476152	9476152	+	Silent	SNP	C	C	T	rs376494447		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:9476152C>T	ENST00000406341.1	+	4	502	c.312C>T	c.(310-312)ctC>ctT	p.L104L	SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Silent_p.L123L|SETD5_ENST00000402198.1_Silent_p.L104L			Q9C0A6	SETD5_HUMAN	SET domain containing 5	104										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GCTTCCTTCTCAACTGTGACA	0.473																																																	0								C		0,3904		0,0,1952	95.0	98.0	97.0		312	4.9	1.0	3		97	2,8302		0,2,4150	no	coding-synonymous	SETD5	NM_001080517.1		0,2,6102	TT,TC,CC		0.0241,0.0,0.0164		104/1443	9476152	2,12206	1952	4152	6104	SO:0001819	synonymous_variant	55209			BC020956	CCDS46741.1, CCDS74892.1	3p25.3	2011-12-13			ENSG00000168137	ENSG00000168137			25566	protein-coding gene	gene with protein product		615743				11214970	Standard	XM_005265299		Approved	FLJ10707	uc003brt.3	Q9C0A6	OTTHUMG00000150491	ENST00000406341.1:c.312C>T	3.37:g.9476152C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AI17|Q8WUB6|Q9H3X4|Q9H6V7|Q9H7S3|Q9NVI9	Silent	SNP	pfam_SET_dom,smart_SET_dom,pfscan_SET_dom	p.L104	ENST00000406341.1	37	c.312	CCDS46741.1	3																																																																																			SETD5	-	NULL		0.473	SETD5-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	SETD5	HGNC	protein_coding	OTTHUMT00000318425.1	C	XM_371614		9476152	+1	no_errors	ENST00000402198	ensembl	human	known	70_37	silent	SNP	1.000	T
SETD2	29072	genome.wustl.edu	37	3	47162374	47162374	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:47162374G>A	ENST00000409792.3	-	3	3794	c.3752C>T	c.(3751-3753)tCa>tTa	p.S1251L		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1251					angiogenesis (GO:0001525)|cell migration involved in vasculogenesis (GO:0035441)|coronary vasculature morphogenesis (GO:0060977)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic placenta morphogenesis (GO:0060669)|forebrain development (GO:0030900)|histone H3-K36 trimethylation (GO:0097198)|mesoderm morphogenesis (GO:0048332)|mismatch repair (GO:0006298)|morphogenesis of a branching structure (GO:0001763)|neural tube closure (GO:0001843)|nucleosome organization (GO:0034728)|pericardium development (GO:0060039)|regulation of mRNA export from nucleus (GO:0010793)|regulation of transcription, DNA-templated (GO:0006355)|stem cell development (GO:0048864)|transcription elongation from RNA polymerase II promoter (GO:0006368)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTCTTCTGATGAGTGCAAGCC	0.453			"""N, F, S, Mis"""		clear cell renal carcinoma																																			Rec	yes		3	3p21.31	29072	SET domain containing 2		E	0													107.0	107.0	107.0					3																	47162374		2203	4300	6503	SO:0001583	missense	29072			AJ238403	CCDS2749.2	3p21.31	2014-09-17			ENSG00000181555	ENSG00000181555		"""Chromatin-modifying enzymes / K-methyltransferases"""	18420	protein-coding gene	gene with protein product		612778				16118227, 11461154	Standard	NM_014159		Approved	HYPB, HIF-1, KIAA1732, FLJ23184, KMT3A	uc003cqs.3	Q9BYW2	OTTHUMG00000133514	ENST00000409792.3:c.3752C>T	3.37:g.47162374G>A	ENSP00000386759:p.Ser1251Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75397|O75405|Q17RW8|Q5BKS9|Q5QGN2|Q69YI5|Q6IN64|Q6ZN53|Q6ZS25|Q8N3R0|Q8TCN0|Q9C0D1|Q9H696|Q9NZW9	Missense_Mutation	SNP	pfam_SRI,pfam_SET_dom,pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,superfamily_Ferritin/RNR-like,smart_AWS,smart_SET_dom,smart_Post-SET_dom,smart_WW_Rsp5_WWP,pfscan_AWS,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_WW_Rsp5_WWP	p.S1251L	ENST00000409792.3	37	c.3752	CCDS2749.2	3	.	.	.	.	.	.	.	.	.	.	G	17.94	3.511656	0.64522	.	.	ENSG00000181555	ENST00000451092;ENST00000543224;ENST00000409792;ENST00000412450	D;T	0.89681	-2.55;1.28	5.28	5.28	0.74379	.	0.138671	0.33438	N	0.004912	D	0.90487	0.7020	L	0.27053	0.805	0.48452	D	0.999656	D;D	0.71674	0.998;0.998	D;D	0.63381	0.914;0.914	D	0.91687	0.5363	10	0.87932	D	0	.	19.111	0.93317	0.0:0.0:1.0:0.0	.	1251;1251	F2Z317;Q9BYW2	.;SETD2_HUMAN	L	1251;1251;1251;1207	ENSP00000386759:S1251L;ENSP00000416401:S1207L	ENSP00000386759:S1251L	S	-	2	0	SETD2	47137378	0.950000	0.32346	0.999000	0.59377	0.936000	0.57629	3.374000	0.52402	2.756000	0.94617	0.655000	0.94253	TCA	SETD2	-	NULL		0.453	SETD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETD2	HGNC	protein_coding	OTTHUMT00000257479.2	G	NM_014159		47162374	-1	no_errors	ENST00000409792	ensembl	human	known	70_37	missense	SNP	0.995	A
SETX	23064	genome.wustl.edu	37	9	135205299	135205299	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:135205299G>C	ENST00000224140.5	-	10	1868	c.1686C>G	c.(1684-1686)ctC>ctG	p.L562L	SETX_ENST00000393220.1_Silent_p.L562L|SETX_ENST00000372169.2_Silent_p.L562L	NM_015046.5	NP_055861.3	Q7Z333	SETX_HUMAN	senataxin	562					cell death (GO:0008219)|circadian rhythm (GO:0007623)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|RNA processing (GO:0006396)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GGAATAAGTTGAGCTTATCCC	0.393																																																	0													70.0	75.0	73.0					9																	135205299		2203	4298	6501	SO:0001819	synonymous_variant	23064			AB014525	CCDS6947.1	9q34	2014-09-17	2005-11-29	2005-11-29	ENSG00000107290	ENSG00000107290			445	protein-coding gene	gene with protein product		608465	"""amyotrophic lateral sclerosis 4"", ""spinocerebellar ataxia, recessive, non-Friedreich type 1"""	ALS4, SCAR1		9497266, 11022012	Standard	NM_015046		Approved	KIAA0625, AOA2	uc004cbk.3	Q7Z333	OTTHUMG00000020834	ENST00000224140.5:c.1686C>G	9.37:g.135205299G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A396|B2RPB2|B5ME16|C9JQ10|O75120|Q3KQX4|Q5JUJ1|Q68DW5|Q6AZD7|Q7Z3J6|Q8WX33|Q9H9D1|Q9NVP9	Silent	SNP	NULL	p.L562	ENST00000224140.5	37	c.1686	CCDS6947.1	9																																																																																			SETX	-	NULL		0.393	SETX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SETX	HGNC	protein_coding	OTTHUMT00000054774.3	G	NM_015046		135205299	-1	no_errors	ENST00000372169	ensembl	human	known	70_37	silent	SNP	1.000	C
SH2B1	25970	genome.wustl.edu	37	16	28878683	28878683	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:28878683C>G	ENST00000322610.8	+	5	1410	c.971C>G	c.(970-972)tCt>tGt	p.S324C	SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.S324C|SH2B1_ENST00000545570.1_Missense_Mutation_p.S14C|SH2B1_ENST00000359285.5_Missense_Mutation_p.S324C|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000337120.5_Missense_Mutation_p.S324C			Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	324	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation). {ECO:0000250}.|PH.				blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|positive regulation of mitosis (GO:0045840)|regulation of DNA biosynthetic process (GO:2000278)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	signal transducer activity (GO:0004871)			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						ATCCCCTGCTCTTCTATCACA	0.562																																																	0													204.0	207.0	206.0					16																	28878683		2197	4300	6497	SO:0001583	missense	25970			AK055104	CCDS32424.1, CCDS53996.1, CCDS53997.1	16p11.2	2013-02-14						"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	30417	protein-coding gene	gene with protein product	"""SH2-B homolog"""	608937				11827956, 10594240	Standard	NM_001145812		Approved	FLJ30542, SH2B	uc002drl.3	Q9NRF2		ENST00000322610.8:c.971C>G	16.37:g.28878683C>G	ENSP00000321221:p.Ser324Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R7|Q96FK3|Q96SX3|Q9NRF1|Q9NRF3|Q9P2P7|Q9Y3Y3	Missense_Mutation	SNP	pfam_Phe_ZIP,pfam_Pleckstrin_homology,pfam_SH2,superfamily_Phe_ZIP,smart_Pleckstrin_homology,smart_SH2,pfscan_SH2,prints_SH2	p.S324C	ENST00000322610.8	37	c.971	CCDS53996.1	16	.	.	.	.	.	.	.	.	.	.	C	14.43	2.531675	0.45073	.	.	ENSG00000178188	ENST00000322610;ENST00000545570;ENST00000359285;ENST00000395532;ENST00000337120	T;T;T;T;T	0.77750	-1.12;-1.12;-1.12;-1.12;-1.12	4.45	4.45	0.53987	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.308053	0.28268	N	0.015961	D	0.83266	0.5217	L	0.41356	1.27	0.40872	D	0.983922	D;B;P;P	0.89917	1.0;0.266;0.804;0.649	D;B;P;B	0.87578	0.998;0.153;0.471;0.391	D	0.84652	0.0701	10	0.49607	T	0.09	-24.2463	16.2416	0.82411	0.0:1.0:0.0:0.0	.	14;324;324;324	F5GXU7;Q9NRF2-2;Q9NRF2-3;Q9NRF2	.;.;.;SH2B1_HUMAN	C	324;14;324;324;324	ENSP00000321221:S324C;ENSP00000440354:S14C;ENSP00000352232:S324C;ENSP00000378903:S324C;ENSP00000337163:S324C	ENSP00000321221:S324C	S	+	2	0	SH2B1	28786184	0.989000	0.36119	0.922000	0.36590	0.872000	0.50106	2.788000	0.47806	2.185000	0.69588	0.563000	0.77884	TCT	SH2B1	-	pfam_Pleckstrin_homology,smart_Pleckstrin_homology		0.562	SH2B1-001	KNOWN	basic|CCDS	protein_coding	SH2B1	HGNC	protein_coding	OTTHUMT00000432666.1	C	NM_015503		28878683	+1	no_errors	ENST00000322610	ensembl	human	known	70_37	missense	SNP	0.993	G
SH2D7	646892	genome.wustl.edu	37	15	78386532	78386532	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:78386532C>T	ENST00000328828.5	+	2	255	c.255C>T	c.(253-255)atC>atT	p.I85I	SNORA63_ENST00000362763.1_RNA|SH2D7_ENST00000409568.2_5'UTR	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	85	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.									endometrium(2)|kidney(2)|lung(3)	7						CTGGCTACATCTTGTCCTACA	0.547																																																	0													39.0	44.0	42.0					15																	78386532		2005	4173	6178	SO:0001819	synonymous_variant	646892				CCDS45315.1	15q25.1	2013-02-14			ENSG00000183476	ENSG00000183476		"""SH2 domain containing"""	34549	protein-coding gene	gene with protein product							Standard	NM_001101404		Approved	LOC646892	uc010blb.1	A6NKC9	OTTHUMG00000154271	ENST00000328828.5:c.255C>T	15.37:g.78386532C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2	p.I85	ENST00000328828.5	37	c.255	CCDS45315.1	15																																																																																			SH2D7	-	pfam_SH2,smart_SH2,pfscan_SH2		0.547	SH2D7-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SH2D7	HGNC	protein_coding	OTTHUMT00000334660.2	C	NM_001101404		78386532	+1	no_errors	ENST00000328828	ensembl	human	novel	70_37	silent	SNP	0.989	T
SH3GLB1	51100	genome.wustl.edu	37	1	87185229	87185229	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:87185229G>C	ENST00000370558.4	+	3	578	c.254G>C	c.(253-255)aGa>aCa	p.R85T	SH3GLB1_ENST00000535010.1_5'UTR|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.R85T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	85	BAR. {ECO:0000255|PROSITE- ProRule:PRU00361}.				'de novo' posttranslational protein folding (GO:0051084)|apoptotic process (GO:0006915)|phosphatidic acid biosynthetic process (GO:0006654)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial outer membrane (GO:0005741)|protein complex (GO:0043234)	fatty acid binding (GO:0005504)|identical protein binding (GO:0042802)|lysophosphatidic acid acyltransferase activity (GO:0042171)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		AAACTGGATAGAAAAGCTCCA	0.353																																																	0													67.0	70.0	69.0					1																	87185229		2203	4300	6503	SO:0001583	missense	51100			AF263293	CCDS710.1, CCDS55612.1, CCDS55613.1, CCDS72819.1	1p22.3	2012-04-17	2001-12-04		ENSG00000097033	ENSG00000097033		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	10833	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 70"""	609287	"""SH3-domain, GRB2-like, endophilin B1"""			11161816, 11259440	Standard	NM_016009		Approved	CGI-61, KIAA0491, Bif-1, PPP1R70	uc001dly.3	Q9Y371	OTTHUMG00000010257	ENST00000370558.4:c.254G>C	1.37:g.87185229G>C	ENSP00000473267:p.Arg85Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E182|Q5H8U5|Q9H3Z0|Q9NR47|Q9NYA9	Missense_Mutation	SNP	pfam_BAR_dom,pfam_BAR_dom-cont,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_BAR_dom,smart_SH3_domain,pfscan_BAR_dom,pfscan_SH3_domain	p.R85T	ENST00000370558.4	37	c.254	CCDS710.1	1	.	.	.	.	.	.	.	.	.	.	G	23.1	4.374965	0.82573	.	.	ENSG00000097033	ENST00000212369;ENST00000482504	T	0.30448	1.53	5.95	5.95	0.96441	BAR (3);	0.042039	0.85682	D	0.000000	T	0.52273	0.1724	M	0.81682	2.555	0.80722	D	1	P;P	0.48764	0.897;0.915	P;P	0.60473	0.543;0.875	T	0.53380	-0.8447	10	0.72032	D	0.01	0.0	20.3747	0.98911	0.0:0.0:1.0:0.0	.	85;85	Q9Y371-2;Q9Y371	.;SHLB1_HUMAN	T	85	ENSP00000418744:R85T	ENSP00000212369:R85T	R	+	2	0	SH3GLB1	86957817	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.612000	0.82975	2.817000	0.96982	0.563000	0.77884	AGA	SH3GLB1	-	pfam_BAR_dom,smart_BAR_dom,pfscan_BAR_dom		0.353	SH3GLB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3GLB1	HGNC	protein_coding	OTTHUMT00000028287.2	G	NM_016009		87185229	+1	no_errors	ENST00000482504	ensembl	human	known	70_37	missense	SNP	1.000	C
SHANK1	50944	genome.wustl.edu	37	19	51165386	51165386	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:51165386C>G	ENST00000293441.1	-	23	6340	c.6322G>C	c.(6322-6324)Gag>Cag	p.E2108Q	SHANK1_ENST00000391813.1_Missense_Mutation_p.E1495Q|SHANK1_ENST00000359082.3_Missense_Mutation_p.E2099Q|SHANK1_ENST00000483981.2_5'Flank|SHANK1_ENST00000391814.1_Missense_Mutation_p.E2116Q|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2108	SAM. {ECO:0000255|PROSITE- ProRule:PRU00184}.				adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCCAGCCACTCCAGCCAATCA	0.637																																																	0													67.0	62.0	64.0					19																	51165386		2203	4300	6503	SO:0001583	missense	50944			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6322G>C	19.37:g.51165386C>G	ENSP00000293441:p.Glu2108Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.E2116Q	ENST00000293441.1	37	c.6346	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	C	12.04	1.819316	0.32145	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	3.56	3.56	0.40772	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.253497	0.30732	U	0.008987	T	0.48642	0.1511	L	0.49640	1.575	0.38086	D	0.936816	P;D	0.56968	0.901;0.978	P;P	0.47645	0.534;0.553	T	0.61633	-0.7023	10	0.72032	D	0.01	.	14.4649	0.67477	0.0:1.0:0.0:0.0	.	2108;1495	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	Q	2108;1495;2099;2116	ENSP00000293441:E2108Q;ENSP00000375689:E1495Q;ENSP00000351984:E2099Q;ENSP00000375690:E2116Q	ENSP00000293441:E2108Q	E	-	1	0	SHANK1	55857198	0.998000	0.40836	0.890000	0.34922	0.890000	0.51754	5.686000	0.68211	2.011000	0.59026	0.450000	0.29827	GAG	SHANK1	-	pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM		0.637	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	C	NM_016148		51165386	-1	no_errors	ENST00000391814	ensembl	human	known	70_37	missense	SNP	0.998	G
SHANK3	85358	genome.wustl.edu	37	22	51121780	51121780	+	Missense_Mutation	SNP	C	C	T	rs376862893		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:51121780C>T	ENST00000414786.2	+	8	1125	c.898C>T	c.(898-900)Cgt>Tgt	p.R300C	SHANK3_ENST00000262795.3_Missense_Mutation_p.R300C|SHANK3_ENST00000445220.2_Missense_Mutation_p.R300C			Q9BYB0	SHAN3_HUMAN	SH3 and multiple ankyrin repeat domains 3	300			R -> C (found in patients with neuropsychiatric disorders; unknown pathological significance; disrupts synaptic localization; may disrupt transsynaptic signaling and spine maturation). {ECO:0000269|PubMed:17173049}.		adult behavior (GO:0030534)|alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor clustering (GO:0097113)|brain morphogenesis (GO:0048854)|dendritic spine morphogenesis (GO:0060997)|guanylate kinase-associated protein clustering (GO:0097117)|learning (GO:0007612)|MAPK cascade (GO:0000165)|memory (GO:0007613)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell volume (GO:0045794)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of glutamate receptor signaling pathway (GO:1900451)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of synapse structural plasticity (GO:0051835)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density assembly (GO:0097107)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of long term synaptic depression (GO:1900452)|regulation of long-term synaptic potentiation (GO:1900271)|social behavior (GO:0035176)|striatal medium spiny neuron differentiation (GO:0021773)|synapse assembly (GO:0007416)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)|neuron spine (GO:0044309)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GAGCTGTGCTCGTGTCCTGCT	0.582																																																	0								C	CYS/ARG	0,4248		0,0,2124	58.0	68.0	65.0		898	4.8	0.9	22		65	1,8437		0,1,4218	no	missense	SHANK3	NM_001080420.1	180	0,1,6342	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	300/1748	51121780	1,12685	2124	4219	6343	SO:0001583	missense	85358			AB051437		22q13.3	2013-11-14			ENSG00000251322	ENSG00000251322		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14294	protein-coding gene	gene with protein product	"""proline rich synapse associated protein 2"", ""shank postsynaptic density protein"""	606230				11258795, 11431708, 10806096, 17173049	Standard	NM_033517		Approved	SPANK-2, prosap2, KIAA1650, PSAP2	uc031ryd.1	Q9BYB0	OTTHUMG00000150169	ENST00000414786.2:c.898C>T	22.37:g.51121780C>T	ENSP00000464552:p.Arg300Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D7UT47|Q8TET3	Missense_Mutation	SNP	pfam_SAM_type1,pfam_Ankyrin_rpt,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R300C	ENST00000414786.2	37	c.898		22	.	.	.	.	.	.	.	.	.	.	C	19.57	3.852945	0.71719	0.0	1.19E-4	ENSG00000251322	ENST00000262795;ENST00000445220	T;T	0.66815	-0.23;-0.23	4.8	4.8	0.61643	.	.	.	.	.	T	0.78848	0.4348	L	0.60067	1.865	0.37726	D	0.925081	D	0.89917	1.0	D	0.91635	0.999	T	0.82857	-0.0250	9	0.87932	D	0	.	15.4269	0.75059	0.0:1.0:0.0:0.0	.	300	F2Z3L0	.	C	300	ENSP00000442518:R300C;ENSP00000446078:R300C	ENSP00000442518:R300C	R	+	1	0	SHANK3	49468646	0.973000	0.33851	0.886000	0.34754	0.996000	0.88848	2.362000	0.44169	2.495000	0.84180	0.645000	0.84053	CGT	SHANK3	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.582	SHANK3-001	KNOWN	non_canonical_polymorphism|basic|appris_candidate	protein_coding	SHANK3	HGNC	protein_coding	OTTHUMT00000316674.2	C	NM_001080420		51121780	+1	no_errors	ENST00000262795	ensembl	human	known	70_37	missense	SNP	0.945	T
SHCBP1L	81626	genome.wustl.edu	37	1	182873370	182873370	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:182873370C>T	ENST00000367547.3	-	8	1768	c.1532G>A	c.(1531-1533)tGt>tAt	p.C511Y	SHCBP1L_ENST00000423786.1_Missense_Mutation_p.C392Y|SHCBP1L_ENST00000488956.1_5'UTR	NM_030933.2	NP_112195.2	Q9BZQ2	SHP1L_HUMAN	SHC SH2-domain binding protein 1-like	583										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|pancreas(1)|prostate(1)|skin(2)	15						TGTAAGAACACACACTCCTGT	0.408																																																	0													141.0	137.0	138.0					1																	182873370		2203	4300	6503	SO:0001583	missense	81626			AF288397	CCDS30955.1	1q25	2011-01-24	2011-01-24	2011-01-24	ENSG00000157060	ENSG00000157060			16788	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 14"""	C1orf14		11318611	Standard	NM_030933		Approved		uc001gpu.3	Q9BZQ2	OTTHUMG00000035419	ENST00000367547.3:c.1532G>A	1.37:g.182873370C>T	ENSP00000356518:p.Cys511Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G195|Q9BZQ3|Q9H2B6	Missense_Mutation	SNP	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1	p.C511Y	ENST00000367547.3	37	c.1532	CCDS30955.1	1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.759207	0.69763	.	.	ENSG00000157060	ENST00000367547;ENST00000287709;ENST00000423786	T;T	0.39406	1.08;1.08	5.55	5.55	0.83447	Pectin lyase fold/virulence factor (1);Carbohydrate-binding/sugar hydrolysis domain (1);Pectin lyase fold (1);	0.000000	0.64402	D	0.000006	T	0.46249	0.1383	N	0.22421	0.69	0.46499	D	0.999072	D;D;D	0.89917	0.999;0.994;1.0	D;P;D	0.87578	0.998;0.903;0.998	T	0.21348	-1.0248	10	0.02654	T	1	-13.1182	16.4312	0.83844	0.0:1.0:0.0:0.0	.	583;392;511	Q9BZQ2;Q9BZQ2-2;Q9BZQ2-3	SHP1L_HUMAN;.;.	Y	511;580;392	ENSP00000356518:C511Y;ENSP00000397308:C392Y	ENSP00000287709:C580Y	C	-	2	0	SHCBP1L	181139993	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.085000	0.64468	2.618000	0.88619	0.655000	0.94253	TGT	SHCBP1L	-	superfamily_Pectin_lyase_fold/virulence,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1		0.408	SHCBP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHCBP1L	HGNC	protein_coding	OTTHUMT00000085956.1	C	NM_030933		182873370	-1	no_errors	ENST00000367547	ensembl	human	known	70_37	missense	SNP	1.000	T
SHROOM3	57619	genome.wustl.edu	37	4	77476856	77476856	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:77476856G>C	ENST00000296043.6	+	2	1216	c.263G>C	c.(262-264)aGa>aCa	p.R88T		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	88	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AGCAGCTCCAGAAAGGAGGCA	0.577																																																	0													126.0	112.0	117.0					4																	77476856		2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.263G>C	4.37:g.77476856G>C	ENSP00000296043:p.Arg88Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.R88T	ENST00000296043.6	37	c.263	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	G	13.47	2.246340	0.39697	.	.	ENSG00000138771	ENST00000296043	T	0.26810	1.71	4.69	3.84	0.44239	PDZ/DHR/GLGF (4);	0.500539	0.16886	N	0.195505	T	0.52500	0.1738	M	0.86178	2.8	0.30839	N	0.735881	D	0.89917	1.0	D	0.79784	0.993	T	0.56751	-0.7927	10	0.66056	D	0.02	-10.9104	11.2919	0.49256	0.0871:0.0:0.9129:0.0	.	88	Q8TF72	SHRM3_HUMAN	T	88	ENSP00000296043:R88T	ENSP00000296043:R88T	R	+	2	0	SHROOM3	77695880	1.000000	0.71417	0.701000	0.30321	0.428000	0.31595	7.610000	0.82949	2.532000	0.85374	0.467000	0.42956	AGA	SHROOM3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.577	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	G	NM_020859		77476856	+1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	0.882	C
LOC101928517	101928517	genome.wustl.edu	37	19	51671575	51671575	+	RNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:51671575C>T	ENST00000600074.1	-	0	493				SIGLEC17P_ENST00000598286.1_RNA																							AGGTGACGTTCCCCGGAGCTG	0.637																																																	0																																												284367																															19.37:g.51671575C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000600074.1	37	NULL		19																																																																																			SIGLEC17P	-	-		0.637	CTD-3187F8.14-001	KNOWN	basic	antisense	SIGLEC17P	HGNC	antisense	OTTHUMT00000465635.1	C			51671575	+1	no_errors	ENST00000341811	ensembl	human	known	70_37	rna	SNP	0.079	T
SIGLECL1	284369	genome.wustl.edu	37	19	51769113	51769113	+	Silent	SNP	C	C	T	rs149317024		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:51769113C>T	ENST00000316401.7	+	4	768	c.387C>T	c.(385-387)ctC>ctT	p.L129L	SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Silent_p.L35L|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	491	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TTGCGCTGCTCTTCCTCTGCC	0.562																																																	0													225.0	207.0	213.0					19																	51769113		2203	4300	6503	SO:0001819	synonymous_variant	284369			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.387C>T	19.37:g.51769113C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYH7	Silent	SNP	NULL	p.L129	ENST00000316401.7	37	c.387	CCDS12827.1	19																																																																																			SIGLECL1	-	NULL		0.562	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLECL1	HGNC	protein_coding	OTTHUMT00000464161.2	C	NM_173635		51769113	+1	no_errors	ENST00000316401	ensembl	human	known	70_37	silent	SNP	0.498	T
SIGLECL1	284369	genome.wustl.edu	37	19	51769119	51769119	+	Silent	SNP	C	C	T	rs551628391		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:51769119C>T	ENST00000316401.7	+	4	774	c.393C>T	c.(391-393)ctC>ctT	p.L131L	SIGLECL1_ENST00000593968.1_3'UTR|SIGLECL1_ENST00000597824.1_Silent_p.L37L|CTD-3187F8.2_ENST00000597569.1_RNA	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	493	Ig-like V-type 1.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										TGCTCTTCCTCTGCCTCCTCC	0.557																																																	0													204.0	189.0	194.0					19																	51769119		2203	4300	6503	SO:0001819	synonymous_variant	284369			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.393C>T	19.37:g.51769119C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYH7	Silent	SNP	NULL	p.L131	ENST00000316401.7	37	c.393	CCDS12827.1	19																																																																																			SIGLECL1	-	NULL		0.557	SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLECL1	HGNC	protein_coding	OTTHUMT00000464161.2	C	NM_173635		51769119	+1	no_errors	ENST00000316401	ensembl	human	known	70_37	silent	SNP	0.990	T
SIN3A	25942	genome.wustl.edu	37	15	75693150	75693150	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:75693150C>T	ENST00000394947.3	-	11	1972	c.1658G>A	c.(1657-1659)cGa>cAa	p.R553Q	SIN3A_ENST00000360439.4_Missense_Mutation_p.R553Q|SIN3A_ENST00000394949.4_Missense_Mutation_p.R553Q	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GGAGCCCAATCGTTTACAAGA	0.478																																																	0													117.0	102.0	107.0					15																	75693150		2197	4294	6491	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1658G>A	15.37:g.75693150C>T	ENSP00000378402:p.Arg553Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PAH,pfam_HDAC_interact,superfamily_PAH,smart_HDAC_interact	p.R553Q	ENST00000394947.3	37	c.1658	CCDS10279.1	15	.	.	.	.	.	.	.	.	.	.	C	37	6.025835	0.97216	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	T;T;T	0.51817	0.69;0.69;0.69	5.91	5.91	0.95273	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	T	0.68613	0.3020	M	0.76838	2.35	0.80722	D	1	D	0.63880	0.993	D	0.63033	0.91	T	0.65022	-0.6269	10	0.34782	T	0.22	-25.1661	19.2838	0.94063	0.0:1.0:0.0:0.0	.	553	Q96ST3	SIN3A_HUMAN	Q	553	ENSP00000378402:R553Q;ENSP00000378403:R553Q;ENSP00000353622:R553Q	ENSP00000353622:R553Q	R	-	2	0	SIN3A	73480203	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.817000	0.86213	2.805000	0.96524	0.460000	0.39030	CGA	SIN3A	-	pfam_HDAC_interact,smart_HDAC_interact		0.478	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIN3A	HGNC	protein_coding	OTTHUMT00000286469.1	C	NM_015477		75693150	-1	no_errors	ENST00000360439	ensembl	human	known	70_37	missense	SNP	1.000	T
SIPA1L2	57568	genome.wustl.edu	37	1	232600674	232600674	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:232600674T>C	ENST00000366630.1	-	8	3090	c.2732A>G	c.(2731-2733)aAa>aGa	p.K911R	SIPA1L2_ENST00000308942.4_5'Flank|SIPA1L2_ENST00000262861.4_Missense_Mutation_p.K911R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	911					regulation of small GTPase mediated signal transduction (GO:0051056)		GTPase activator activity (GO:0005096)			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GTAAAACACTTTGATACTCAC	0.408																																																	0													88.0	87.0	87.0					1																	232600674		1972	4157	6129	SO:0001583	missense	57568			AB037810	CCDS41474.1	1q42.2	2008-02-05			ENSG00000116991	ENSG00000116991			23800	protein-coding gene	gene with protein product		611609					Standard	NM_020808		Approved	KIAA1389	uc001hvg.3	Q9P2F8	OTTHUMG00000037820	ENST00000366630.1:c.2732A>G	1.37:g.232600674T>C	ENSP00000355589:p.Lys911Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TV88|Q5VXR7|Q5VXR8|Q641Q4|Q8NA38|Q96DZ3|Q9H9F6	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.K911R	ENST00000366630.1	37	c.2732	CCDS41474.1	1	.	.	.	.	.	.	.	.	.	.	T	19.53	3.844710	0.71603	.	.	ENSG00000116991	ENST00000366630;ENST00000262861	T;T	0.81163	-1.46;-1.46	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.81740	0.4886	L	0.48642	1.525	0.58432	D	0.999999	P	0.46952	0.887	P	0.50352	0.638	T	0.79780	-0.1659	10	0.30854	T	0.27	-29.8159	16.3829	0.83481	0.0:0.0:0.0:1.0	.	911	Q9P2F8	SI1L2_HUMAN	R	911	ENSP00000355589:K911R;ENSP00000262861:K911R	ENSP00000262861:K911R	K	-	2	0	SIPA1L2	230667297	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.300000	0.72776	2.271000	0.75665	0.459000	0.35465	AAA	SIPA1L2	-	NULL		0.408	SIPA1L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L2	HGNC	protein_coding	OTTHUMT00000092318.1	T	XM_045839		232600674	-1	no_errors	ENST00000262861	ensembl	human	known	70_37	missense	SNP	1.000	C
SIPA1L3	23094	genome.wustl.edu	37	19	38579389	38579389	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:38579389G>C	ENST00000222345.6	+	4	2072	c.1563G>C	c.(1561-1563)gaG>gaC	p.E521D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	521					hematopoietic progenitor cell differentiation (GO:0002244)|regulation of small GTPase mediated signal transduction (GO:0051056)	extracellular space (GO:0005615)	GTPase activator activity (GO:0005096)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGTGGATGAGAAGCTGGGGC	0.587																																																	0													93.0	76.0	82.0					19																	38579389		2203	4300	6503	SO:0001583	missense	23094			AB011117	CCDS33007.1	19q13.13	2008-02-05			ENSG00000105738	ENSG00000105738			23801	protein-coding gene	gene with protein product							Standard	XM_005258671		Approved	KIAA0545	uc002ohk.3	O60292	OTTHUMG00000073727	ENST00000222345.6:c.1563G>C	19.37:g.38579389G>C	ENSP00000222345:p.Glu521Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TV87	Missense_Mutation	SNP	pfam_DUF3401,pfam_Rap_GAP,superfamily_PDZ,smart_PDZ,pfscan_PDZ,pfscan_Rap_GAP	p.E521D	ENST00000222345.6	37	c.1563	CCDS33007.1	19	.	.	.	.	.	.	.	.	.	.	G	14.34	2.506796	0.44558	.	.	ENSG00000105738	ENST00000222345	D	0.94092	-3.35	5.99	2.18	0.27775	.	0.175036	0.49916	N	0.000131	D	0.85957	0.5818	L	0.37850	1.14	0.40122	D	0.976617	B	0.06786	0.001	B	0.08055	0.003	T	0.75207	-0.3399	10	0.40728	T	0.16	-32.8477	2.3466	0.04273	0.1931:0.1397:0.5233:0.1439	.	521	O60292	SI1L3_HUMAN	D	521	ENSP00000222345:E521D	ENSP00000222345:E521D	E	+	3	2	SIPA1L3	43271229	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.673000	0.37534	0.225000	0.20959	0.655000	0.94253	GAG	SIPA1L3	-	NULL		0.587	SIPA1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIPA1L3	HGNC	protein_coding	OTTHUMT00000156294.2	G	XM_032278		38579389	+1	no_errors	ENST00000222345	ensembl	human	known	70_37	missense	SNP	1.000	C
SKAP1	8631	genome.wustl.edu	37	17	46214610	46214610	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:46214610C>T	ENST00000336915.6	-	12	1137	c.1068G>A	c.(1066-1068)gtG>gtA	p.V356V	SKAP1_ENST00000584924.1_Silent_p.V356V	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	356					positive regulation of signal transduction (GO:0009967)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|SH2 domain binding (GO:0042169)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						ATCTTTCTTCCACTTCAAAGG	0.453																																																	0													147.0	132.0	137.0					17																	46214610		2203	4300	6503	SO:0001819	synonymous_variant	8631			Y11215	CCDS32674.1	17q21.32	2013-01-10	2006-09-28	2006-09-28		ENSG00000141293		"""Pleckstrin homology (PH) domain containing"""	15605	protein-coding gene	gene with protein product		604969	"""src family associated phosphoprotein 1"""	SCAP1		9195899	Standard	NM_003726		Approved	SKAP55	uc002ini.1	Q86WV1		ENST00000336915.6:c.1068G>A	17.37:g.46214610C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTV1|O15268	Silent	SNP	pfam_Pleckstrin_homology,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,prints_SH3_domain	p.V356	ENST00000336915.6	37	c.1068	CCDS32674.1	17																																																																																			SKAP1	-	NULL		0.453	SKAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKAP1	HGNC	protein_coding	OTTHUMT00000443432.1	C	NM_003726		46214610	-1	no_errors	ENST00000336915	ensembl	human	known	70_37	silent	SNP	0.988	T
SLC13A1	6561	genome.wustl.edu	37	7	122821030	122821030	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:122821030C>G	ENST00000194130.2	-	2	264	c.225G>C	c.(223-225)aaG>aaC	p.K75N	SLC13A1_ENST00000539873.1_Missense_Mutation_p.K11N	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	75					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:sulfate symporter activity (GO:0015382)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GACTTACCTTCTTAGAAGGCA	0.403																																																	0													108.0	96.0	100.0					7																	122821030		2203	4300	6503	SO:0001583	missense	6561				CCDS5786.1	7q31.32	2013-07-18	2013-07-18		ENSG00000081800	ENSG00000081800		"""Solute carriers"""	10916	protein-coding gene	gene with protein product		606193	"""solute carrier family 13 (sodium/sulphate symporters), member 1"""			11161786	Standard	NM_022444		Approved	NaSi-1, NAS1	uc003vkm.3	Q9BZW2	OTTHUMG00000157087	ENST00000194130.2:c.225G>C	7.37:g.122821030C>G	ENSP00000194130:p.Lys75Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H5Z0	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.K75N	ENST00000194130.2	37	c.225	CCDS5786.1	7	.	.	.	.	.	.	.	.	.	.	C	13.77	2.335974	0.41398	.	.	ENSG00000081800	ENST00000194130;ENST00000539873	T;T	0.02944	4.1;4.1	6.16	-1.18	0.09617	.	0.272209	0.41938	D	0.000794	T	0.01905	0.0060	L	0.35854	1.095	0.09310	N	1	B	0.06786	0.001	B	0.13407	0.009	T	0.44711	-0.9310	10	0.25751	T	0.34	.	1.2491	0.01978	0.1301:0.2301:0.256:0.3838	.	75	Q9BZW2	S13A1_HUMAN	N	75;11	ENSP00000194130:K75N;ENSP00000441309:K11N	ENSP00000194130:K75N	K	-	3	2	SLC13A1	122608266	0.000000	0.05858	0.000000	0.03702	0.918000	0.54935	-0.913000	0.04042	-0.565000	0.06061	-0.156000	0.13503	AAG	SLC13A1	-	pfam_Na/sul_symport		0.403	SLC13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A1	HGNC	protein_coding	OTTHUMT00000347404.1	C	NM_022444		122821030	-1	no_errors	ENST00000194130	ensembl	human	known	70_37	missense	SNP	0.000	G
SLC13A5	284111	genome.wustl.edu	37	17	6589534	6589534	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:6589534C>G	ENST00000433363.2	-	12	1932	c.1699G>C	c.(1699-1701)Gag>Cag	p.E567Q	SLC13A5_ENST00000293800.6_Missense_Mutation_p.E550Q|SLC13A5_ENST00000573648.1_Missense_Mutation_p.E521Q|SLC13A5_ENST00000381074.4_Missense_Mutation_p.E524Q	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	567					transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	citrate transmembrane transporter activity (GO:0015137)|sodium:dicarboxylate symporter activity (GO:0017153)|succinate transmembrane transporter activity (GO:0015141)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCCTAAGTCTCAATATGTGTC	0.493																																																	0													218.0	195.0	203.0					17																	6589534		2203	4300	6503	SO:0001583	missense	284111			AJ489980	CCDS11079.1, CCDS45593.1, CCDS67136.1, CCDS67137.1	17p13.1	2013-05-22			ENSG00000141485	ENSG00000141485		"""Solute carriers"""	23089	protein-coding gene	gene with protein product		608305				12445824	Standard	NM_001284510		Approved	NACT	uc002gdj.3	Q86YT5	OTTHUMG00000102052	ENST00000433363.2:c.1699G>C	17.37:g.6589534C>G	ENSP00000406220:p.Glu567Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXR0|B7Z4P2|B7ZLB4|F8W7N2|Q6ZMG1	Missense_Mutation	SNP	pfam_Na/sul_symport,pfam_Cit_transptr-like_dom	p.E567Q	ENST00000433363.2	37	c.1699	CCDS11079.1	17	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107610	0.56291	.	.	ENSG00000141485	ENST00000293800;ENST00000433363;ENST00000381074	T	0.04970	3.52	5.05	-1.67	0.08238	.	1.168100	0.06087	N	0.662923	T	0.02494	0.0076	N	0.03608	-0.345	0.09310	N	1	B;P;B;B	0.37276	0.309;0.589;0.201;0.242	B;B;B;B	0.33960	0.039;0.173;0.039;0.054	T	0.42515	-0.9447	10	0.23302	T	0.38	.	5.5522	0.17097	0.0:0.4205:0.1417:0.4378	.	521;524;550;567	B7ZLB4;F8W7N2;B3KXR0;Q86YT5	.;.;.;S13A5_HUMAN	Q	567;521;524	ENSP00000370464:E524Q	ENSP00000293800:E567Q	E	-	1	0	SLC13A5	6530258	0.000000	0.05858	0.083000	0.20561	0.787000	0.44495	-0.349000	0.07731	0.079000	0.16929	0.655000	0.94253	GAG	SLC13A5	-	NULL		0.493	SLC13A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC13A5	HGNC	protein_coding	OTTHUMT00000219853.2	C	NM_177550		6589534	-1	no_errors	ENST00000433363	ensembl	human	known	70_37	missense	SNP	0.001	G
SLC15A3	51296	genome.wustl.edu	37	11	60714117	60714117	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:60714117G>C	ENST00000227880.3	-	2	968	c.735C>G	c.(733-735)ctC>ctG	p.L245L		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	245					ion transport (GO:0006811)|peptide transport (GO:0015833)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	symporter activity (GO:0015293)	p.L245L(1)		central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GGGTGGCAAAGAGGAAGATGA	0.572																																																	1	Substitution - coding silent(1)	lung(1)											81.0	80.0	80.0					11																	60714117		2203	4299	6502	SO:0001819	synonymous_variant	51296			AB020598	CCDS7998.1	11q12.2	2013-07-18	2013-07-18		ENSG00000110446	ENSG00000110446		"""Solute carriers"""	18068	protein-coding gene	gene with protein product		610408	"""solute carrier family 15, member 3"""			11336635, 11741232	Standard	NM_016582		Approved	PHT2, hPTR3	uc001nqn.2	Q8IY34	OTTHUMG00000167804	ENST00000227880.3:c.735C>G	11.37:g.60714117G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2X9	Silent	SNP	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt	p.L245	ENST00000227880.3	37	c.735	CCDS7998.1	11	.	.	.	.	.	.	.	.	.	.	G	9.059	0.993958	0.19043	.	.	ENSG00000110446	ENST00000442626	.	.	.	4.65	4.65	0.58169	.	.	.	.	.	T	0.65565	0.2703	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.65236	-0.6217	5	0.46703	T	0.11	-40.8113	11.9829	0.53129	0.0:0.0:0.8264:0.1736	.	.	.	.	C	245	.	ENSP00000403318:S245C	S	-	2	0	SLC15A3	60470693	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	0.872000	0.28037	2.596000	0.87737	0.591000	0.81541	TCT	SLC15A3	-	pfam_POT_fam,pfam_MFS,superfamily_MFS_dom_general_subst_transpt		0.572	SLC15A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A3	HGNC	protein_coding	OTTHUMT00000396366.1	G	NM_016582		60714117	-1	no_errors	ENST00000227880	ensembl	human	known	70_37	silent	SNP	1.000	C
SLC15A5	729025	genome.wustl.edu	37	12	16430513	16430513	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:16430513G>A	ENST00000344941.3	-	1	106	c.107C>T	c.(106-108)tCt>tTt	p.S36F		NM_001170798.1	NP_001164269.1	A6NIM6	S15A5_HUMAN	solute carrier family 15, member 5	36					peptide transport (GO:0015833)|protein transport (GO:0015031)	integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			breast(2)|lung(1)	3						TTTTTTCACAGAGTGTGAGGA	0.418																																																	0													145.0	123.0	130.0					12																	16430513		692	1591	2283	SO:0001583	missense	729025					12p12.3	2013-07-18			ENSG00000188991	ENSG00000188991		"""Solute carriers"""	33455	protein-coding gene	gene with protein product						21044875	Standard	NM_001170798		Approved		uc021qvs.1	A6NIM6	OTTHUMG00000168793	ENST00000344941.3:c.107C>T	12.37:g.16430513G>A	ENSP00000340402:p.Ser36Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt	p.S36F	ENST00000344941.3	37	c.107		12	.	.	.	.	.	.	.	.	.	.	G	1.842	-0.467220	0.04476	.	.	ENSG00000188991	ENST00000344941	T	0.03920	3.76	4.54	2.65	0.31530	.	.	.	.	.	T	0.06645	0.0170	L	0.34521	1.04	0.09310	N	1	.	.	.	.	.	.	T	0.32877	-0.9890	7	0.62326	D	0.03	.	9.5858	0.39514	0.234:0.0:0.766:0.0	.	.	.	.	F	36	ENSP00000340402:S36F	ENSP00000340402:S36F	S	-	2	0	SLC15A5	16321780	0.002000	0.14202	0.554000	0.28268	0.026000	0.11368	0.825000	0.27393	1.120000	0.41904	0.655000	0.94253	TCT	SLC15A5	-	NULL		0.418	SLC15A5-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf	protein_coding	SLC15A5	HGNC	protein_coding	OTTHUMT00000401119.2	G	XM_001129090		16430513	-1	no_errors	ENST00000344941	ensembl	human	novel	70_37	missense	SNP	0.006	A
SLC16A13	201232	genome.wustl.edu	37	17	6940071	6940071	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:6940071G>A	ENST00000308027.6	+	2	533	c.225G>A	c.(223-225)acG>acA	p.T75T		NM_201566.2	NP_963860.1	Q7RTY0	MOT13_HUMAN	solute carrier family 16, member 13	75						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCCTGAGCACGAAGTTCGGGC	0.642																																																	0													104.0	104.0	104.0					17																	6940071		2203	4300	6503	SO:0001819	synonymous_variant	201232			BN000145	CCDS11085.1	17p13.1	2013-07-18	2013-07-18		ENSG00000174327	ENSG00000174327		"""Solute carriers"""	31037	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 13"""		"""solute carrier family 16 (monocarboxylic acid transporters), member 13"""				Standard	NM_201566		Approved	MCT13	uc002geh.3	Q7RTY0	OTTHUMG00000102089	ENST00000308027.6:c.225G>A	17.37:g.6940071G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KMG3|A5PKU5|Q2VP92	Silent	SNP	pfam_MFS,pfam_Atg22-like,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.T75	ENST00000308027.6	37	c.225	CCDS11085.1	17																																																																																			SLC16A13	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.642	SLC16A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC16A13	HGNC	protein_coding	OTTHUMT00000219923.2	G			6940071	+1	no_errors	ENST00000308027	ensembl	human	known	70_37	silent	SNP	0.903	A
SLC16A11	162515	genome.wustl.edu	37	17	6945690	6945690	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:6945690C>G	ENST00000308009.1	-	3	1148	c.811G>C	c.(811-813)Gac>Cac	p.D271H	SLC16A11_ENST00000447225.1_Missense_Mutation_p.D247H	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	271					lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						AGGCCCCGGTCTAAAGCGTGG	0.667																																																	0													18.0	14.0	16.0					17																	6945690		2168	4280	6448	SO:0001583	missense	162515			AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.811G>C	17.37:g.6945690C>G	ENSP00000310490:p.Asp271His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D271H	ENST00000308009.1	37	c.811	CCDS11086.1	17	.	.	.	.	.	.	.	.	.	.	C	18.78	3.697407	0.68386	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	T;T	0.60299	0.2;0.2	5.09	5.09	0.68999	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.422888	0.26532	N	0.023854	T	0.48750	0.1517	L	0.28054	0.825	0.43613	D	0.995985	P	0.44195	0.828	B	0.43194	0.411	T	0.45469	-0.9259	10	0.33940	T	0.23	.	16.0445	0.80711	0.0:1.0:0.0:0.0	.	271	Q8NCK7	MOT11_HUMAN	H	271;247	ENSP00000310490:D271H;ENSP00000394449:D247H	ENSP00000310490:D271H	D	-	1	0	SLC16A11	6886414	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.749000	0.55150	2.633000	0.89246	0.655000	0.94253	GAC	SLC16A11	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.667	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC16A11	HGNC	protein_coding	OTTHUMT00000219921.1	C	NM_153357		6945690	-1	no_errors	ENST00000308009	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC17A2	10246	genome.wustl.edu	37	6	25916060	25916060	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:25916060C>G	ENST00000265425.3	-	8	987	c.967G>C	c.(967-969)Gca>Cca	p.A323P	SLC17A2_ENST00000377850.3_Missense_Mutation_p.A323P|SLC17A2_ENST00000360488.3_Missense_Mutation_p.A323P			O00624	NPT3_HUMAN	solute carrier family 17, member 2	323					phosphate ion transmembrane transport (GO:0035435)|phosphate-containing compound metabolic process (GO:0006796)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	sodium:phosphate symporter activity (GO:0005436)			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTACAGCTTGCAGCAGCAATA	0.413																																																	0													55.0	53.0	53.0					6																	25916060		2203	4300	6503	SO:0001583	missense	10246			U90544	CCDS4567.1, CCDS69060.1	6p22.2	2013-07-18	2013-07-18		ENSG00000112337	ENSG00000112337		"""Solute carriers"""	10930	protein-coding gene	gene with protein product		611049	"""solute carrier family 17 (sodium phosphate), member 2"""			9149941	Standard	NM_001286123		Approved	NPT3	uc003nfl.3	O00624	OTTHUMG00000014413	ENST00000265425.3:c.967G>C	6.37:g.25916060C>G	ENSP00000265425:p.Ala323Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NK81|A6NLD6|Q5TB84|Q76P85	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A323P	ENST00000265425.3	37	c.967		6	.	.	.	.	.	.	.	.	.	.	C	14.05	2.418433	0.42918	.	.	ENSG00000112337	ENST00000360488;ENST00000377850;ENST00000265425	T;T;T	0.61040	0.14;0.14;0.14	5.03	1.17	0.20885	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.856190	0.09968	N	0.732588	T	0.41719	0.1171	L	0.53671	1.685	0.09310	N	1	B;P;B	0.37176	0.085;0.586;0.451	B;B;B	0.43916	0.251;0.436;0.213	T	0.42632	-0.9440	10	0.56958	D	0.05	.	10.7972	0.46468	0.483:0.517:0.0:0.0	.	323;323;323	O00624;A6NK81;O00624-2	NPT3_HUMAN;.;.	P	323	ENSP00000353677:A323P;ENSP00000367081:A323P;ENSP00000265425:A323P	ENSP00000265425:A323P	A	-	1	0	SLC17A2	26024039	0.917000	0.31117	0.429000	0.26710	0.953000	0.61014	1.436000	0.34980	0.118000	0.18165	-0.271000	0.10264	GCA	SLC17A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.413	SLC17A2-002	KNOWN	basic|appris_principal	protein_coding	SLC17A2	HGNC	protein_coding	OTTHUMT00000040075.1	C			25916060	-1	no_errors	ENST00000377850	ensembl	human	known	70_37	missense	SNP	0.160	G
SLC17A8	246213	genome.wustl.edu	37	12	100784871	100784871	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:100784871C>T	ENST00000323346.5	+	3	760	c.447C>T	c.(445-447)ttC>ttT	p.F149F	SLC17A8_ENST00000392989.3_Silent_p.F149F	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	149					ion transport (GO:0006811)|neurotransmitter transport (GO:0006836)|sensory perception of sound (GO:0007605)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|synaptic vesicle membrane (GO:0030672)	L-glutamate transmembrane transporter activity (GO:0005313)|symporter activity (GO:0015293)	p.F149L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CAGGTGGTTTCATTTCAAACA	0.378																																																	1	Substitution - Missense(1)	lung(1)											110.0	111.0	111.0					12																	100784871		2203	4300	6503	SO:0001819	synonymous_variant	246213			AJ459241	CCDS9077.1, CCDS44957.1	12q23.1	2013-07-18	2013-07-18		ENSG00000179520	ENSG00000179520		"""Solute carriers"""	20151	protein-coding gene	gene with protein product	"""vesicular glutamate transporter 3"""	607557	"""deafness, autosomal dominant 25"", ""solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8"""	DFNA25		12151341	Standard	NM_139319		Approved	VGLUT3	uc010svi.2	Q8NDX2	OTTHUMG00000170358	ENST00000323346.5:c.447C>T	12.37:g.100784871C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXZ6|B7ZKV4|Q17RQ8	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F149	ENST00000323346.5	37	c.447	CCDS9077.1	12																																																																																			SLC17A8	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.378	SLC17A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A8	HGNC	protein_coding	OTTHUMT00000408673.2	C	NM_139319		100784871	+1	no_errors	ENST00000323346	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC18A2	6571	genome.wustl.edu	37	10	119036742	119036742	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:119036742C>G	ENST00000298472.5	+	16	1653	c.1510C>G	c.(1510-1512)Ccg>Gcg	p.P504A	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	504					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCAGTCATATCCGATAGGTGA	0.343																																																	0													92.0	91.0	92.0					10																	119036742		2203	4300	6503	SO:0001583	missense	6571			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.1510C>G	10.37:g.119036742C>G	ENSP00000298472:p.Pro504Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.P504A	ENST00000298472.5	37	c.1510	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	C	13.39	2.222930	0.39300	.	.	ENSG00000165646	ENST00000298472	T	0.03982	3.74	5.96	5.96	0.96718	.	0.268738	0.38663	N	0.001604	T	0.11965	0.0291	L	0.52905	1.665	0.35132	D	0.768079	P	0.51351	0.944	P	0.52424	0.698	T	0.01512	-1.1336	10	0.62326	D	0.03	-20.9187	13.5885	0.61946	0.0:0.9293:0.0:0.0707	.	504	Q05940	VMAT2_HUMAN	A	504	ENSP00000298472:P504A	ENSP00000298472:P504A	P	+	1	0	SLC18A2	119026732	0.907000	0.30839	0.890000	0.34922	0.762000	0.43233	2.760000	0.47581	2.814000	0.96858	0.655000	0.94253	CCG	SLC18A2	-	NULL		0.343	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	C	NM_003054		119036742	+1	no_errors	ENST00000298472	ensembl	human	known	70_37	missense	SNP	0.990	G
SLC1A5	6510	genome.wustl.edu	37	19	47278773	47278773	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:47278773G>C	ENST00000542575.2	-	8	2248	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V	SLC1A5_ENST00000412532.2_Silent_p.V312V|FKRP_ENST00000600646.1_Intron|SLC1A5_ENST00000434726.2_Silent_p.V338V|SLC1A5_ENST00000594991.1_Silent_p.V364V	NM_005628.2	NP_005619.1	Q15758	AAAT_HUMAN	solute carrier family 1 (neutral amino acid transporter), member 5	540					amino acid transport (GO:0006865)|extracellular amino acid transport (GO:0006860)|glutamine transport (GO:0006868)|ion transport (GO:0006811)|neutral amino acid transport (GO:0015804)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-glutamine transmembrane transporter activity (GO:0015186)|L-serine transmembrane transporter activity (GO:0015194)|neutral amino acid transmembrane transporter activity (GO:0015175)|receptor activity (GO:0004872)|sodium:dicarboxylate symporter activity (GO:0017153)|virus receptor activity (GO:0001618)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(2)|stomach(1)	13		all_epithelial(76;0.00314)|Ovarian(192;0.0798)|all_neural(266;0.107)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000882)|Epithelial(262;0.0211)|GBM - Glioblastoma multiforme(486;0.0341)	L-Asparagine(DB00174)|L-Glutamine(DB00130)	GGGTTTACATGACTGATTCCT	0.592																																																	0													76.0	88.0	84.0					19																	47278773		2203	4299	6502	SO:0001819	synonymous_variant	6510			U53347	CCDS12692.1, CCDS46125.1, CCDS46126.1	19q13.32	2013-07-15			ENSG00000105281	ENSG00000105281		"""Solute carriers"""	10943	protein-coding gene	gene with protein product		109190		RDRC, M7V1		8702519, 10051606	Standard	NM_005628		Approved	AAAT, ASCT2	uc002pfs.3	Q15758	OTTHUMG00000183434	ENST00000542575.2:c.1620C>G	19.37:g.47278773G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H5|B4DR77|B4DWS4|B7ZB81|D0EYG6|E9PC01|O95720|Q96RL9|Q9BWQ3|Q9UNP2	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.V540	ENST00000542575.2	37	c.1620	CCDS12692.1	19																																																																																			SLC1A5	-	NULL		0.592	SLC1A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC1A5	HGNC	protein_coding	OTTHUMT00000466630.1	G			47278773	-1	no_errors	ENST00000542575	ensembl	human	known	70_37	silent	SNP	1.000	C
SLC22A10	387775	genome.wustl.edu	37	11	63072163	63072163	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:63072163G>C	ENST00000332793.6	+	9	1402	c.1400G>C	c.(1399-1401)aGa>aCa	p.R467T	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Missense_Mutation_p.E266Q|SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	467						integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28					Conjugated Estrogens(DB00286)|Probenecid(DB01032)|Salicylic acid(DB00936)	TGTAGGGCAAGAGCTTCAGGA	0.358																																																	0													126.0	118.0	121.0					11																	63072163		1843	4084	5927	SO:0001583	missense	387775			AP003420	CCDS41661.1	11q12.3	2013-05-22	2008-01-11		ENSG00000184999	ENSG00000184999		"""Solute carriers"""	18057	protein-coding gene	gene with protein product		607580	"""solute carrier family 22 (organic anion/cation transporter), member 10"""			11327718	Standard	NM_001039752		Approved	OAT5, hOAT5	uc009yor.3	Q63ZE4	OTTHUMG00000165197	ENST00000332793.6:c.1400G>C	11.37:g.63072163G>C	ENSP00000327569:p.Arg467Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CJ0	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.R467T	ENST00000332793.6	37	c.1400	CCDS41661.1	11	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	5.770|5.770	0.326469|0.326469	0.10900|0.10900	.|.	.|.	ENSG00000184999|ENSG00000184999	ENST00000544661|ENST00000332793	T|T	0.69306|0.55413	-0.39|0.52	2.0|2.0	-4.0|-4.0	0.04057|0.04057	.|Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	.|0.632124	.|0.14108	.|U	.|0.340905	T|T	0.13543|0.13543	0.0328|0.0328	N|N	0.00960|0.00960	-1.095|-1.095	0.09310|0.09310	N|N	1|1	B|B	0.09022|0.12013	0.002|0.005	B|B	0.04013|0.16289	0.001|0.015	T|T	0.23048|0.23048	-1.0199|-1.0199	9|10	0.59425|0.02654	D|T	0.04|1	.|.	4.3231|4.3231	0.11027|0.11027	0.1222:0.5622:0.1756:0.14|0.1222:0.5622:0.1756:0.14	.|.	261|467	E9PJB1|Q63ZE4	.|S22AA_HUMAN	Q|T	266|467	ENSP00000445667:E266Q|ENSP00000327569:R467T	ENSP00000433817:E261Q|ENSP00000327569:R467T	E|R	+|+	1|2	0|0	SLC22A10|SLC22A10	62828739|62828739	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.006000|0.006000	0.05464|0.05464	-2.102000|-2.102000	0.01343|0.01343	-1.311000|-1.311000	0.02309|0.02309	0.448000|0.448000	0.29417|0.29417	GAG|AGA	SLC22A10	-	pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.358	SLC22A10-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A10	HGNC	protein_coding	OTTHUMT00000382622.3	G	NM_001039752		63072163	+1	no_errors	ENST00000332793	ensembl	human	known	70_37	missense	SNP	0.000	C
SLC22A15	55356	genome.wustl.edu	37	1	116574197	116574197	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:116574197C>A	ENST00000369503.4	+	6	1069	c.939C>A	c.(937-939)ttC>ttA	p.F313L	SLC22A15_ENST00000369502.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	313					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	transmembrane transporter activity (GO:0022857)			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		TCCTGATGTTCATCTGGTAAT	0.463																																																	0													106.0	106.0	106.0					1																	116574197		1920	4130	6050	SO:0001583	missense	55356			AY145501	CCDS44198.1	1p12	2013-05-22	2008-01-11		ENSG00000163393	ENSG00000163393		"""Solute carriers"""	20301	protein-coding gene	gene with protein product		608275	"""solute carrier family 22 (organic cation transporter), member 15"""			12372408	Standard	NM_018420		Approved	FLIPT1	uc001egb.4	Q8IZD6	OTTHUMG00000012008	ENST00000369503.4:c.939C>A	1.37:g.116574197C>A	ENSP00000358515:p.Phe313Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUR3|Q6UXP5|Q8TAL9|Q9NSH5	Missense_Mutation	SNP	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F313L	ENST00000369503.4	37	c.939	CCDS44198.1	1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.936520	0.73442	.	.	ENSG00000163393	ENST00000369503	T	0.72725	-0.68	4.91	4.0	0.46444	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.172531	0.53938	D	0.000058	T	0.32255	0.0823	N	0.12831	0.26	0.80722	D	1	B	0.26318	0.146	B	0.33254	0.16	T	0.17077	-1.0381	10	0.13470	T	0.59	.	8.9731	0.35919	0.0:0.7728:0.1487:0.0785	.	313	Q8IZD6	S22AF_HUMAN	L	313	ENSP00000358515:F313L	ENSP00000358515:F313L	F	+	3	2	SLC22A15	116375720	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	0.960000	0.29253	1.288000	0.44600	0.655000	0.94253	TTC	SLC22A15	-	pfam_Sub_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.463	SLC22A15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC22A15	HGNC	protein_coding	OTTHUMT00000033220.2	C	NM_018420		116574197	+1	no_errors	ENST00000369503	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC23A2	9962	genome.wustl.edu	37	20	4864395	4864395	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:4864395C>T	ENST00000379333.1	-	9	1109	c.717G>A	c.(715-717)ctG>ctA	p.L239L	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000338244.1_Silent_p.L239L|snoU13_ENST00000516249.1_RNA|SLC23A2_ENST00000424750.2_Intron	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	239					L-ascorbic acid metabolic process (GO:0019852)|L-ascorbic acid transport (GO:0015882)|molecular hydrogen transport (GO:0015993)|nucleobase transport (GO:0015851)|nucleobase-containing compound metabolic process (GO:0006139)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|transepithelial L-ascorbic acid transport (GO:0070904)|vitamin metabolic process (GO:0006766)|vitamin transmembrane transport (GO:0035461)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-ascorbate:sodium symporter activity (GO:0008520)|L-ascorbic acid transporter activity (GO:0015229)|nucleobase transmembrane transporter activity (GO:0015205)|sodium-dependent L-ascorbate transmembrane transporter activity (GO:0070890)|sodium-dependent multivitamin transmembrane transporter activity (GO:0008523)			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CGATGTACTTCAGTAGAGCCC	0.582																																																	0													94.0	85.0	88.0					20																	4864395		2203	4300	6503	SO:0001819	synonymous_variant	9962			AF058319	CCDS13085.1	20p13	2013-07-18	2013-07-18	2003-03-21	ENSG00000089057	ENSG00000089057		"""Solute carriers"""	10973	protein-coding gene	gene with protein product		603791	"""solute carrier family 23 (nucleobase transporters), member 1"""	SLC23A1		9804989, 10331392	Standard	NM_005116		Approved	SVCT2, KIAA0238, YSPL2	uc002wlh.1	Q9UGH3	OTTHUMG00000031793	ENST00000379333.1:c.717G>A	20.37:g.4864395C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJZ1|Q8WWR4|Q92512|Q96D54|Q9UNU1|Q9UP85	Silent	SNP	pfam_Xant/urac/vitC	p.L239	ENST00000379333.1	37	c.717	CCDS13085.1	20																																																																																			SLC23A2	-	pfam_Xant/urac/vitC		0.582	SLC23A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC23A2	HGNC	protein_coding	OTTHUMT00000077832.1	C			4864395	-1	no_errors	ENST00000338244	ensembl	human	known	70_37	silent	SNP	0.999	T
SLC25A18	83733	genome.wustl.edu	37	22	18069913	18069913	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:18069913C>G	ENST00000327451.6	+	8	959	c.421C>G	c.(421-423)Cag>Gag	p.Q141E	SLC25A18_ENST00000399813.1_Missense_Mutation_p.Q141E|AC004019.13_ENST00000443935.1_RNA	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18	141						integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	symporter activity (GO:0015293)			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)		CGTCCATCATCAGGGCTCGGC	0.612																																					Colon(118;1560 1625 18964 29606 50093)												0													167.0	147.0	154.0					22																	18069913		2203	4300	6503	SO:0001583	missense	83733			AY008285	CCDS13744.1	22q11.2	2013-05-22	2012-03-29		ENSG00000182902	ENSG00000182902		"""Solute carriers"""	10988	protein-coding gene	gene with protein product		609303	"""solute carrier family 25 (mitochondrial carrier), member 18"""			11381032, 11897791	Standard	NM_031481		Approved		uc002zmp.1	Q9H1K4	OTTHUMG00000150089	ENST00000327451.6:c.421C>G	22.37:g.18069913C>G	ENSP00000329033:p.Gln141Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier	p.Q141E	ENST00000327451.6	37	c.421	CCDS13744.1	22	.	.	.	.	.	.	.	.	.	.	C	12.41	1.930112	0.34096	.	.	ENSG00000182902	ENST00000327451;ENST00000399813	T;T	0.79940	-1.32;-1.32	4.75	3.7	0.42460	Mitochondrial carrier domain (2);	0.558655	0.19447	N	0.114034	T	0.73313	0.3571	L	0.42581	1.335	0.32218	N	0.575669	B	0.16603	0.018	B	0.25987	0.065	T	0.69533	-0.5120	10	0.18276	T	0.48	-15.6811	12.3895	0.55350	0.0:0.8297:0.1703:0.0	.	141	Q9H1K4	GHC2_HUMAN	E	141	ENSP00000329033:Q141E;ENSP00000382710:Q141E	ENSP00000329033:Q141E	Q	+	1	0	SLC25A18	16449913	0.985000	0.35326	0.023000	0.16930	0.011000	0.07611	1.810000	0.38932	1.097000	0.41459	0.485000	0.47835	CAG	SLC25A18	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.612	SLC25A18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A18	HGNC	protein_coding	OTTHUMT00000316214.3	C	NM_031481		18069913	+1	no_errors	ENST00000327451	ensembl	human	known	70_37	missense	SNP	0.757	G
SLC25A37	51312	genome.wustl.edu	37	8	23429092	23429092	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:23429092C>T	ENST00000519973.1	+	4	939	c.741C>T	c.(739-741)ctC>ctT	p.L247L	FP15737_ENST00000399967.3_5'Flank	NM_016612.2	NP_057696.2	Q9NYZ2	MFRN1_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 37	247					iron ion homeostasis (GO:0055072)|mitochondrial iron ion transport (GO:0048250)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	iron ion transmembrane transporter activity (GO:0005381)			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|urinary_tract(1)	15		Prostate(55;0.114)		Colorectal(74;0.0198)|COAD - Colon adenocarcinoma(73;0.0751)		CCGGGGCCCTCGCCGCGGCCG	0.657																																																	0													22.0	27.0	25.0					8																	23429092		1906	4104	6010	SO:0001819	synonymous_variant	51312			AF495725	CCDS47828.1	8p21.2	2013-05-22	2012-03-29		ENSG00000147454	ENSG00000147454		"""Solute carriers"""	29786	protein-coding gene	gene with protein product	"""mitoferrin"""	610387	"""solute carrier family 25, member 37"""			16511496	Standard	XM_006716352		Approved	MSCP, MFRN, MFRN1	uc003xdo.3	Q9NYZ2	OTTHUMG00000163865	ENST00000519973.1:c.741C>T	8.37:g.23429092C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU93|Q53FT7|Q69YJ8|Q969S1|Q9P0J2	Silent	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.L247	ENST00000519973.1	37	c.741	CCDS47828.1	8																																																																																			SLC25A37	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.657	SLC25A37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A37	HGNC	protein_coding	OTTHUMT00000376039.1	C	NM_016612		23429092	+1	no_errors	ENST00000519973	ensembl	human	known	70_37	silent	SNP	0.047	T
SLC27A5	10998	genome.wustl.edu	37	19	59021320	59021320	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:59021320C>G	ENST00000263093.2	-	3	1060	c.951G>C	c.(949-951)aaG>aaC	p.K317N	SLC27A5_ENST00000601355.1_Missense_Mutation_p.K233N	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	317					bile acid and bile salt transport (GO:0015721)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|ketone body biosynthetic process (GO:0046951)|plasma membrane long-chain fatty acid transport (GO:0015911)|small molecule metabolic process (GO:0044281)|triglyceride mobilization (GO:0006642)|very long-chain fatty acid metabolic process (GO:0000038)	basal plasma membrane (GO:0009925)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|protein complex (GO:0043234)	ATP binding (GO:0005524)|cholate-CoA ligase activity (GO:0047747)|fatty acid transporter activity (GO:0015245)|very long-chain fatty acid-CoA ligase activity (GO:0031957)	p.K317N(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGGACAGCATCTTGCTCATCT	0.577																																																	1	Substitution - Missense(1)	large_intestine(1)											188.0	122.0	144.0					19																	59021320		2203	4300	6503	SO:0001583	missense	10998			AF064255	CCDS12983.1	19q13.43	2013-07-15			ENSG00000083807	ENSG00000083807		"""Acyl-CoA synthetase family"", ""Solute carriers"""	10999	protein-coding gene	gene with protein product	"""fatty-acid-Coenzyme A ligase, very long-chain 3"""	603314				10479480, 10749848	Standard	NM_012254		Approved	FATP5, VLACSR, VLCS-H2, VLCSH2, FACVL3, FLJ22987, ACSVL6, ACSB	uc002qtc.2	Q9Y2P5	OTTHUMG00000183543	ENST00000263093.2:c.951G>C	19.37:g.59021320C>G	ENSP00000263093:p.Lys317Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVP6|B4DPQ1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.K317N	ENST00000263093.2	37	c.951	CCDS12983.1	19	.	.	.	.	.	.	.	.	.	.	c	5.103	0.204655	0.09704	.	.	ENSG00000083807	ENST00000263093	T	0.47528	0.84	4.71	-6.47	0.01902	AMP-dependent synthetase/ligase (1);	2.329850	0.01144	N	0.006268	T	0.15825	0.0381	N	0.01257	-0.925	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.13072	-1.0523	10	0.19147	T	0.46	0.0123	4.0702	0.09879	0.1235:0.1703:0.5149:0.1913	.	317	Q9Y2P5	S27A5_HUMAN	N	317	ENSP00000263093:K317N	ENSP00000263093:K317N	K	-	3	2	SLC27A5	63713132	0.000000	0.05858	0.003000	0.11579	0.469000	0.32828	-1.886000	0.01619	-0.687000	0.05162	0.485000	0.47835	AAG	SLC27A5	-	pfam_AMP-dep_Synth/Lig		0.577	SLC27A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC27A5	HGNC	protein_coding	OTTHUMT00000467060.1	C	NM_012254		59021320	-1	no_errors	ENST00000263093	ensembl	human	known	70_37	missense	SNP	0.000	G
SLC2A8	29988	genome.wustl.edu	37	9	130166349	130166349	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:130166349G>A	ENST00000373371.3	+	7	1065				SLC2A8_ENST00000373360.3_Intron|SLC2A8_ENST00000373352.1_Intron|SLC2A8_ENST00000485806.1_3'UTR	NM_001271712.1|NM_014580.3	NP_001258641.1|NP_055395.2	Q9NY64	GTR8_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 8						carbohydrate metabolic process (GO:0005975)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|male meiosis I (GO:0007141)|response to hypoxia (GO:0001666)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	glucose binding (GO:0005536)|glucose transmembrane transporter activity (GO:0005355)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						CTTGTCAGGTGAGGGTTCACC	0.637																																																	0													30.0	28.0	29.0					9																	130166349		2201	4297	6498	SO:0001627	intron_variant	29988			AJ245937	CCDS6870.1, CCDS65138.1, CCDS75903.1	9q33.3	2013-05-22	2008-09-02		ENSG00000136856	ENSG00000136856		"""Solute carriers"""	13812	protein-coding gene	gene with protein product		605245	"""solute carrier family 2 (facilitated glucose transporter) member 8"""			10671487, 10821868	Standard	NM_014580		Approved	GLUTX1, GLUT8	uc004bqu.4	Q9NY64	OTTHUMG00000020702	ENST00000373371.3:c.976+3G>A	9.37:g.130166349G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUZ9|Q9NSC4	RNA	SNP	-	NULL	ENST00000373371.3	37	NULL	CCDS6870.1	9																																																																																			SLC2A8	-	-		0.637	SLC2A8-005	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC2A8	HGNC	protein_coding	OTTHUMT00000054177.1	G	NM_014580		130166349	+1	no_errors	ENST00000485806	ensembl	human	known	70_37	rna	SNP	0.993	A
SLC30A5	64924	genome.wustl.edu	37	5	68417706	68417706	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:68417706G>A	ENST00000396591.3	+	13	2365	c.1755G>A	c.(1753-1755)atG>atA	p.M585I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	585					cellular protein metabolic process (GO:0044267)|cellular zinc ion homeostasis (GO:0006882)|cobalt ion transport (GO:0006824)|regulation of proton transport (GO:0010155)|response to zinc ion (GO:0010043)|transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	apical plasma membrane (GO:0016324)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)|secretory granule (GO:0030141)|secretory granule membrane (GO:0030667)	zinc ion binding (GO:0008270)|zinc ion transmembrane transporter activity (GO:0005385)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GTGGAGGCATGAATGCTAACA	0.448																																																	0													90.0	87.0	88.0					5																	68417706		2203	4300	6503	SO:0001583	missense	64924			AF212235	CCDS3996.1, CCDS34173.1, CCDS58955.1	5q13.1	2013-05-22			ENSG00000145740	ENSG00000145740		"""Solute carriers"""	19089	protein-coding gene	gene with protein product		607819				11937503, 11904301	Standard	NM_022902		Approved	ZTL1, ZnT-5, FLJ12496, FLJ12756, ZNT5, MGC5499, ZNTL1	uc003jvh.3	Q8TAD4	OTTHUMG00000131253	ENST00000396591.3:c.1755G>A	5.37:g.68417706G>A	ENSP00000379836:p.Met585Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM89|Q6UX54|Q7L4M4|Q8TDG3|Q9BVY8|Q9H9H1	Missense_Mutation	SNP	pfam_Cation_efflux,tigrfam_Cation_efflux	p.M585I	ENST00000396591.3	37	c.1755	CCDS3996.1	5	.	.	.	.	.	.	.	.	.	.	G	14.94	2.684141	0.47991	.	.	ENSG00000145740	ENST00000396591;ENST00000438236	T	0.61742	0.08	4.92	4.92	0.64577	.	0.075172	0.85682	D	0.000000	T	0.51329	0.1668	L	0.35542	1.07	0.80722	D	1	B;B;B	0.20671	0.024;0.033;0.047	B;B;B	0.28385	0.089;0.007;0.015	T	0.47484	-0.9114	10	0.40728	T	0.16	.	17.8933	0.88879	0.0:0.0:1.0:0.0	.	414;414;585	Q9H9X0;Q8TAD4-2;Q8TAD4	.;.;ZNT5_HUMAN	I	585;180	ENSP00000379836:M585I	ENSP00000379836:M585I	M	+	3	0	SLC30A5	68453462	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.168000	0.77570	2.543000	0.85770	0.563000	0.77884	ATG	SLC30A5	-	pfam_Cation_efflux,tigrfam_Cation_efflux		0.448	SLC30A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC30A5	HGNC	protein_coding	OTTHUMT00000254017.2	G			68417706	+1	no_errors	ENST00000396591	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC35B1	10237	genome.wustl.edu	37	17	47785258	47785258	+	5'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:47785258G>A	ENST00000240333.6	-	0	59				SLC35B1_ENST00000415270.2_Missense_Mutation_p.P17S|RP11-613C6.2_ENST00000512720.1_RNA			P78383	S35B1_HUMAN	solute carrier family 35, member B1						transport (GO:0006810)|UDP-galactose transmembrane transport (GO:0072334)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)	UDP-galactose transmembrane transporter activity (GO:0005459)			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGCGGCGGCGGAGGCGACAGC	0.706											OREG0024545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001623	5_prime_UTR_variant	10237			D16978	CCDS11552.1, CCDS11552.2	17q21.32	2013-05-22			ENSG00000121073	ENSG00000121073		"""Solute carriers"""	20798	protein-coding gene	gene with protein product		610790				9010752	Standard	NM_005827		Approved	UGTREL1	uc002iph.1	P78383	OTTHUMG00000161638	ENST00000240333.6:c.-63C>T	17.37:g.47785258G>A		Somatic	949	WXS	Illumina HiSeq	Phase_IV	B4DEC4|J3KQV4|Q96EW7	Missense_Mutation	SNP	pfam_UAA,pfam_DMT,pfam_DUF250	p.P17S	ENST00000240333.6	37	c.49	CCDS11552.1	17	.	.	.	.	.	.	.	.	.	.	G	13.70	2.316071	0.40996	.	.	ENSG00000121073	ENST00000415270	T	0.27557	1.66	5.34	2.25	0.28309	.	.	.	.	.	T	0.12305	0.0299	.	.	.	0.20764	N	0.999858	.	.	.	.	.	.	T	0.29640	-1.0005	6	0.11182	T	0.66	.	2.8236	0.05479	0.1612:0.1435:0.5473:0.148	.	.	.	.	S	17	ENSP00000409548:P17S	ENSP00000409548:P17S	P	-	1	0	SLC35B1	45140257	0.144000	0.22641	0.968000	0.41197	0.687000	0.40016	-0.364000	0.07583	0.374000	0.24650	-0.176000	0.13171	CCG	SLC35B1	-	NULL		0.706	SLC35B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35B1	HGNC	protein_coding	OTTHUMT00000365564.2	G	NM_005827		47785258	-1	no_errors	ENST00000415270	ensembl	human	known	70_37	missense	SNP	0.978	A
SLC35E1	79939	genome.wustl.edu	37	19	16664393	16664393	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:16664393C>T	ENST00000595753.1	-	0	1347				SLC35E1_ENST00000593812.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron|CTD-3222D19.11_ENST00000597357.1_RNA	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1						transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						ACCGTCCCCTCGGCTGGGTTG	0.597																																																	0																																										SO:0001624	3_prime_UTR_variant	79939			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.*97G>A	19.37:g.16664393C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NBQ2|Q96JV7	RNA	SNP	-	NULL	ENST00000595753.1	37	NULL	CCDS12346.2	19																																																																																			SLC35E1	-	-		0.597	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E1	HGNC	protein_coding	OTTHUMT00000326809.2	C	NM_024881		16664393	-1	no_errors	ENST00000600356	ensembl	human	putative	70_37	rna	SNP	0.000	T
SLC37A1	54020	genome.wustl.edu	37	21	43955658	43955658	+	Silent	SNP	C	C	T	rs199619177		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:43955658C>T	ENST00000352133.2	+	5	1330	c.348C>T	c.(346-348)ctC>ctT	p.L116L	SLC37A1_ENST00000398341.3_Silent_p.L116L			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	116					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|membrane (GO:0016020)	transporter activity (GO:0005215)			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						GGATGTACCTCAGGTAGGTCT	0.542																																																	0													156.0	150.0	152.0					21																	43955658		2203	4300	6503	SO:0001819	synonymous_variant	54020			AJ269529	CCDS13689.1	21q22.3	2013-07-17	2013-07-17		ENSG00000160190	ENSG00000160190		"""Solute carriers"""	11024	protein-coding gene	gene with protein product		608094	"""solute carrier family 37 (glycerol-3-phosphate transporter), member 1"""			11112347	Standard	NM_018964		Approved		uc002zbi.3	P57057	OTTHUMG00000086803	ENST00000352133.2:c.348C>T	21.37:g.43955658C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSJ7|Q9HAQ1	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.L116	ENST00000352133.2	37	c.348	CCDS13689.1	21																																																																																			SLC37A1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.542	SLC37A1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC37A1	HGNC	protein_coding	OTTHUMT00000195377.1	C			43955658	+1	no_errors	ENST00000352133	ensembl	human	known	70_37	silent	SNP	0.997	T
SLC37A3	84255	genome.wustl.edu	37	7	140051183	140051183	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:140051183C>T	ENST00000326232.9	-	9	975	c.772G>A	c.(772-774)Gaa>Aaa	p.E258K	SLC37A3_ENST00000447932.2_Missense_Mutation_p.E258K|SLC37A3_ENST00000429996.2_3'UTR|SLC37A3_ENST00000340308.3_Missense_Mutation_p.E258K	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	258					carbohydrate transport (GO:0008643)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					TCTTCATTTTCACCACCATTA	0.428																																					Esophageal Squamous(133;211 1716 4665 11387 37873)												0													164.0	153.0	157.0					7																	140051183		2203	4300	6503	SO:0001583	missense	84255			AK074823	CCDS5858.1, CCDS5859.1, CCDS75669.1	7q34	2013-07-17	2013-07-17		ENSG00000157800	ENSG00000157800		"""Solute carriers"""	20651	protein-coding gene	gene with protein product							Standard	NM_001287498		Approved	DKFZp761N0624	uc003vvo.3	Q8NCC5	OTTHUMG00000157343	ENST00000326232.9:c.772G>A	7.37:g.140051183C>T	ENSP00000321498:p.Glu258Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIU7|Q86SS4|Q9BQG7	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.E258K	ENST00000326232.9	37	c.772	CCDS5859.1	7	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063584	0.55432	.	.	ENSG00000157800	ENST00000340308;ENST00000447932;ENST00000326232	T;T;T	0.19394	2.15;2.44;2.44	4.71	3.83	0.44106	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.302986	0.32459	N	0.006067	T	0.20047	0.0482	L	0.52364	1.645	0.80722	D	1	B;B;B	0.29862	0.079;0.259;0.095	B;B;B	0.29176	0.03;0.099;0.047	T	0.03555	-1.1025	10	0.28530	T	0.3	-23.6976	13.0244	0.58806	0.0:0.9192:0.0:0.0808	.	258;258;258	Q8NCC5-2;Q8NCC5-3;Q8NCC5	.;.;SPX3_HUMAN	K	258	ENSP00000343358:E258K;ENSP00000397481:E258K;ENSP00000321498:E258K	ENSP00000321498:E258K	E	-	1	0	SLC37A3	139697652	0.995000	0.38212	0.681000	0.30009	0.776000	0.43924	2.536000	0.45693	1.288000	0.44600	0.514000	0.50259	GAA	SLC37A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.428	SLC37A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC37A3	HGNC	protein_coding	OTTHUMT00000348492.1	C	NM_032295		140051183	-1	no_errors	ENST00000326232	ensembl	human	known	70_37	missense	SNP	0.822	T
SLC38A5	92745	genome.wustl.edu	37	X	48325234	48325234	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:48325234G>A	ENST00000376876.3	-	5	1114	c.271C>T	c.(271-273)Ctg>Ttg	p.L91L	SLC38A5_ENST00000317669.5_Silent_p.L91L|SLC38A5_ENST00000376875.1_Silent_p.L40L			Q8WUX1	S38A5_HUMAN	solute carrier family 38, member 5	91					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine transmembrane transporter activity (GO:0015187)			breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						TAGGACGACAGAAGCGCAATG	0.667											OREG0019763	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000264901	0.0	0.0	3775	,	,		10576	0.001		0.0	False		,,,				2504	0.0																0													74.0	62.0	66.0					X																	48325234		2196	4297	6493	SO:0001819	synonymous_variant	92745			AF276889	CCDS14293.1	Xp11.23	2013-05-22			ENSG00000017483	ENSG00000017483		"""Solute carriers"""	18070	protein-coding gene	gene with protein product		300649				11243884	Standard	NM_033518		Approved	SN2, JM24	uc010nid.3	Q8WUX1	OTTHUMG00000024117	ENST00000376876.3:c.271C>T	X.37:g.48325234G>A		Somatic	953	WXS	Illumina HiSeq	Phase_IV	B3KT20|B5MDE6|B7WPJ9|Q6PIW9|Q8WYU2|Q96PQ4	Silent	SNP	pfam_AA_transpt_TM	p.L91	ENST00000376876.3	37	c.271	CCDS14293.1	X																																																																																			SLC38A5	-	pfam_AA_transpt_TM		0.667	SLC38A5-011	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC38A5	HGNC	protein_coding	OTTHUMT00000060724.1	G	NM_033518		48325234	-1	no_errors	ENST00000317669	ensembl	human	known	70_37	silent	SNP	0.976	A
SLC39A11	201266	genome.wustl.edu	37	17	70645373	70645373	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:70645373G>A	ENST00000542342.2	-	8	815	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S	SLC39A11_ENST00000579988.1_5'UTR|SLC39A11_ENST00000255559.3_Missense_Mutation_p.P236S	NM_001159770.1	NP_001153242.1	Q8N1S5	S39AB_HUMAN	solute carrier family 39, member 11	243					zinc ion transport (GO:0006829)	integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)	p.P236S(1)		endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AGGCCCTCGGGGAAATTCTGG	0.557																																					NSCLC(95;736 1527 12296 39625 41839)												1	Substitution - Missense(1)	liver(1)											46.0	50.0	49.0					17																	70645373		2203	4300	6503	SO:0001583	missense	201266			AF331643	CCDS11690.1, CCDS54160.1	17q24.3-q25.1	2014-08-12	2013-07-17	2003-10-24	ENSG00000133195	ENSG00000133195		"""Solute carriers"""	14463	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 26"""	C17orf26		11707075	Standard	NM_139177		Approved		uc002jjb.3	Q8N1S5	OTTHUMG00000178306	ENST00000542342.2:c.727C>T	17.37:g.70645373G>A	ENSP00000445829:p.Pro243Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8H7|Q8WZ81	Missense_Mutation	SNP	pfam_ZIP	p.P243S	ENST00000542342.2	37	c.727	CCDS54160.1	17	.	.	.	.	.	.	.	.	.	.	G	15.64	2.892807	0.52121	.	.	ENSG00000133195	ENST00000542342;ENST00000255559	T;T	0.58358	0.34;0.34	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	D	0.82472	0.5044	H	0.97023	3.925	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.88757	0.3254	10	0.87932	D	0	.	18.3766	0.90437	0.0:0.0:1.0:0.0	.	243;236	Q8N1S5;Q8N1S5-2	S39AB_HUMAN;.	S	243;236	ENSP00000445829:P243S;ENSP00000255559:P236S	ENSP00000255559:P236S	P	-	1	0	SLC39A11	68156968	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.079000	0.76829	2.504000	0.84457	0.655000	0.94253	CCC	SLC39A11	-	pfam_ZIP		0.557	SLC39A11-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC39A11	HGNC	protein_coding	OTTHUMT00000441442.1	G			70645373	-1	no_errors	ENST00000542342	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC39A5	283375	genome.wustl.edu	37	12	56630940	56630940	+	Missense_Mutation	SNP	T	T	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56630940T>C	ENST00000266980.4	+	10	1588	c.1295T>C	c.(1294-1296)tTt>tCt	p.F432S	SLC39A5_ENST00000419232.1_3'UTR|ANKRD52_ENST00000548241.1_5'Flank|SLC39A5_ENST00000454355.2_Missense_Mutation_p.F432S	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	432					cellular response to zinc ion starvation (GO:0034224)|G1 to G0 transition involved in cell differentiation (GO:0070315)|neural precursor cell proliferation (GO:0061351)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATAGGTGACTTTGCCATGCTG	0.632																																																	0													52.0	51.0	51.0					12																	56630940		2203	4300	6503	SO:0001583	missense	283375				CCDS8912.2	12q13.3	2013-07-17	2013-07-17		ENSG00000139540	ENSG00000139540		"""Solute carriers"""	20502	protein-coding gene	gene with protein product		608730	"""solute carrier family 39 (metal ion transporter), member 5"""				Standard	NM_173596		Approved		uc010sqj.2	Q6ZMH5	OTTHUMG00000156962	ENST00000266980.4:c.1295T>C	12.37:g.56630940T>C	ENSP00000266980:p.Phe432Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R808|Q8N6Y3	Missense_Mutation	SNP	pfam_ZIP	p.F432S	ENST00000266980.4	37	c.1295	CCDS8912.2	12	.	.	.	.	.	.	.	.	.	.	T	19.14	3.769088	0.69992	.	.	ENSG00000139540	ENST00000454355;ENST00000266980	T;T	0.52983	0.64;0.64	4.61	3.44	0.39384	.	0.000000	0.56097	D	0.000021	T	0.65923	0.2738	H	0.94183	3.505	0.52099	D	0.99994	P	0.47841	0.901	P	0.52386	0.697	T	0.68804	-0.5312	10	0.59425	D	0.04	-15.3874	6.684	0.23134	0.152:0.0:0.1579:0.6901	.	432	Q6ZMH5	S39A5_HUMAN	S	432	ENSP00000405360:F432S;ENSP00000266980:F432S	ENSP00000266980:F432S	F	+	2	0	SLC39A5	54917207	1.000000	0.71417	0.983000	0.44433	0.980000	0.70556	3.348000	0.52209	0.882000	0.36016	0.459000	0.35465	TTT	SLC39A5	-	pfam_ZIP		0.632	SLC39A5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC39A5	HGNC	protein_coding	OTTHUMT00000346834.1	T	NM_173596		56630940	+1	no_errors	ENST00000266980	ensembl	human	known	70_37	missense	SNP	0.999	C
SLC44A4	80736	genome.wustl.edu	37	6	31832357	31832357	+	Intron	DEL	A	A	-			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:31832357delA	ENST00000229729.6	-	20	2032				SLC44A4_ENST00000544672.1_Intron|SLC44A4_ENST00000375562.4_Intron|NEU1_ENST00000375631.4_5'Flank	NM_025257.2	NP_079533.2	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4						acetylcholine biosynthetic process (GO:0008292)|acetylcholine secretion (GO:0061526)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|positive regulation of cell growth (GO:0030307)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CCAAATCTCCAAAAAAAAAAA	0.488																																																	0																																										SO:0001627	intron_variant	80736			AF134726	CCDS4724.2, CCDS54989.1, CCDS54990.1	6p21.3	2014-02-17	2005-09-06	2005-09-06	ENSG00000204385	ENSG00000204385		"""Solute carriers"""	13941	protein-coding gene	gene with protein product		606107	"""chromosome 6 open reading frame 29"""	C6orf29		10677542, 15715662, 24379411	Standard	NM_025257		Approved	NG22, CTL4, FLJ14491, TPPT	uc010jti.3	Q53GD3	OTTHUMG00000031133	ENST00000229729.6:c.2011+71T>-	6.37:g.31832357delA		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BED3|B0UXX8|B0UZY8|B4DU94|B4DWM2|E9PEK7|Q5JP84|Q5JQ93|Q658S8|Q6UX89|Q8TEW4|Q96C58|Q96K59|Q9Y332	RNA	DEL	-	NULL	ENST00000229729.6	37	NULL	CCDS4724.2	6																																																																																			SLC44A4	-	-		0.488	SLC44A4-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC44A4	HGNC	protein_coding	OTTHUMT00000076234.3	A			31832357	-1	no_errors	ENST00000487680	ensembl	human	putative	70_37	rna	DEL	0.055	-
SLC39A7	7922	genome.wustl.edu	37	6	33171585	33171585	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:33171585G>C	ENST00000374677.3	+	7	1778	c.1405G>C	c.(1405-1407)Gag>Cag	p.E469Q	SLC39A7_ENST00000374675.3_Missense_Mutation_p.E469Q|HSD17B8_ENST00000374662.3_5'Flank|SLC39A7_ENST00000463972.1_3'UTR|RXRB_ENST00000544186.1_5'Flank	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	469				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305). {ECO:0000305}.	transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion transmembrane transporter activity (GO:0046873)			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGCCCACCTTGAGTGAGGGGT	0.597																																																	0													52.0	54.0	54.0					6																	33171585		1970	4149	6119	SO:0001583	missense	7922			AF117221	CCDS43453.1	6p21.3	2014-01-28		2003-10-27	ENSG00000112473	ENSG00000112473		"""Solute carriers"""	4927	protein-coding gene	gene with protein product		601416	"""HLA class II region expressed gene KE4"""	HKE4		8812499, 1855816, 19246244, 15705588	Standard	NM_006979		Approved	H2-KE4, D6S2244E, KE4, RING5, ZIP7	uc003odf.3	Q92504	OTTHUMG00000031238	ENST00000374677.3:c.1405G>C	6.37:g.33171585G>C	ENSP00000363809:p.Glu469Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UXF6|Q5STP8|Q9UIQ0	Missense_Mutation	SNP	pfam_ZIP,prints_Kininogen	p.E469Q	ENST00000374677.3	37	c.1405	CCDS43453.1	6	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041280	0.55003	.	.	ENSG00000112473	ENST00000374675;ENST00000446283;ENST00000445037;ENST00000374677	T;T	0.65916	-0.18;-0.18	4.79	4.79	0.61399	.	0.000000	0.85682	D	0.000000	T	0.75824	0.3902	M	0.81112	2.525	0.80722	D	1	D;D	0.71674	0.993;0.998	D;D	0.78314	0.979;0.991	T	0.79612	-0.1731	10	0.87932	D	0	-4.943	15.3789	0.74637	0.0:0.0:1.0:0.0	.	450;469	B4DVK8;Q92504	.;S39A7_HUMAN	Q	469;450;374;469	ENSP00000363807:E469Q;ENSP00000363809:E469Q	ENSP00000363807:E469Q	E	+	1	0	SLC39A7	33279563	1.000000	0.71417	0.966000	0.40874	0.209000	0.24338	7.164000	0.77533	2.494000	0.84150	0.549000	0.68633	GAG	SLC39A7	-	NULL		0.597	SLC39A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC39A7	HGNC	protein_coding	OTTHUMT00000076499.2	G	NM_006979		33171585	+1	no_errors	ENST00000374675	ensembl	human	known	70_37	missense	SNP	0.999	C
SLC52A3	113278	genome.wustl.edu	37	20	744585	744585	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:744585C>T	ENST00000217254.7	-	3	871	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SLC52A3_ENST00000381944.3_Silent_p.E210E|SLC52A3_ENST00000473664.1_Intron	NM_033409.3	NP_212134.3	Q9NQ40	S52A3_HUMAN	solute carrier family 52 (riboflavin transporter), member 3	210					cellular response to heat (GO:0034605)|riboflavin metabolic process (GO:0006771)|riboflavin transport (GO:0032218)|sensory perception of sound (GO:0007605)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	riboflavin transporter activity (GO:0032217)										GGTAGCGGCTCTCCAGGTGGG	0.612																																																	0													47.0	40.0	43.0					20																	744585		2203	4300	6503	SO:0001819	synonymous_variant	113278			AL118502	CCDS13007.1	20p13	2013-07-17	2013-07-17	2012-02-29	ENSG00000101276	ENSG00000101276		"""Solute carriers"""	16187	protein-coding gene	gene with protein product	"""hypothetical protein LOC113278"""	613350	"""chromosome 20 open reading frame 54"""	C20orf54		11780052, 19122205	Standard	NM_033409		Approved	bA371L19.1, hRFT2, RFVT3	uc002wed.4	Q9NQ40	OTTHUMG00000031647	ENST00000217254.7:c.630G>A	20.37:g.744585C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6P1|Q5W1A0|Q5W1A1|Q8NCL7|Q96GD5	Silent	SNP	pfam_Endogenous_retrovirus_rcpt	p.E210	ENST00000217254.7	37	c.630	CCDS13007.1	20																																																																																			SLC52A3	-	NULL		0.612	SLC52A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC52A3	HGNC	protein_coding	OTTHUMT00000077482.2	C	NM_033409		744585	-1	no_errors	ENST00000217254	ensembl	human	known	70_37	silent	SNP	0.995	T
SLC5A3	6526	genome.wustl.edu	37	21	35469468	35469468	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:35469468C>G	ENST00000381151.3	+	2	2483	c.1971C>G	c.(1969-1971)ttC>ttG	p.F657L	SLC5A3_ENST00000608209.1_Missense_Mutation_p.F657L|MRPS6_ENST00000399312.2_Intron|AP000320.7_ENST00000362077.4_RNA			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	657					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						ACTGGAAGTTCATAGACTGGT	0.463																																																	0													96.0	98.0	97.0					21																	35469468		2203	4300	6503	SO:0001583	missense	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1971C>G	21.37:g.35469468C>G	ENSP00000370543:p.Phe657Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O43489	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.F657L	ENST00000381151.3	37	c.1971	CCDS33549.1	21	.	.	.	.	.	.	.	.	.	.	c	11.09	1.537322	0.27475	.	.	ENSG00000198743	ENST00000381151	D	0.84442	-1.85	6.05	4.24	0.50183	.	0.332317	0.31809	N	0.007021	T	0.73148	0.3550	L	0.29908	0.895	0.30822	N	0.737665	B	0.02656	0.0	B	0.01281	0.0	T	0.62685	-0.6802	10	0.15499	T	0.54	.	7.7113	0.28679	0.1333:0.7319:0.0:0.1348	.	657	P53794	SC5A3_HUMAN	L	657	ENSP00000370543:F657L	ENSP00000370543:F657L	F	+	3	2	SLC5A3	34391338	0.941000	0.31946	1.000000	0.80357	0.975000	0.68041	0.425000	0.21346	0.881000	0.35993	-0.150000	0.13652	TTC	SLC5A3	-	NULL		0.463	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	SLC5A3	HGNC	protein_coding	OTTHUMT00000141037.1	C			35469468	+1	no_errors	ENST00000381151	ensembl	human	known	70_37	missense	SNP	0.998	G
SLC6A8	6535	genome.wustl.edu	37	X	152954237	152954237	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:152954237G>T	ENST00000253122.5	+	1	684	c.208G>T	c.(208-210)Gtg>Ttg	p.V70L	SLC6A8_ENST00000430077.2_5'Flank	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8	70					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GGGCTTCGCCGTGGGCTTGGG	0.736																																																	0													31.0	25.0	27.0					X																	152954237		2199	4298	6497	SO:0001583	missense	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.208G>T	X.37:g.152954237G>T	ENSP00000253122:p.Val70Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_creatine	p.V70L	ENST00000253122.5	37	c.208	CCDS14726.1	X	.	.	.	.	.	.	.	.	.	.	N	20.2	3.955576	0.73902	.	.	ENSG00000130821	ENST00000253122	D	0.81996	-1.56	2.47	1.57	0.23409	.	.	.	.	.	D	0.91297	0.7256	M	0.93678	3.445	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.77004	0.976;0.989	D	0.88684	0.3204	9	0.87932	D	0	.	6.6711	0.23068	0.1637:0.0:0.8363:0.0	.	89;70	Q59EV7;P48029	.;SC6A8_HUMAN	L	70	ENSP00000253122:V70L	ENSP00000253122:V70L	V	+	1	0	SLC6A8	152607431	0.462000	0.25791	0.998000	0.56505	0.988000	0.76386	0.705000	0.25675	0.151000	0.19162	0.447000	0.29281	GTG	SLC6A8	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport		0.736	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	G			152954237	+1	no_errors	ENST00000253122	ensembl	human	known	70_37	missense	SNP	0.994	T
SLC6A8	6535	genome.wustl.edu	37	X	152959915	152959915	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:152959915G>C	ENST00000253122.5	+	10	1971				SLC6A8_ENST00000485324.1_3'UTR|SLC6A8_ENST00000430077.2_Intron	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8						cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|creatine transmembrane transport (GO:1902598)|creatine transport (GO:0015881)|muscle contraction (GO:0006936)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	creatine transmembrane transporter activity (GO:0005308)|creatine:sodium symporter activity (GO:0005309)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	GGTCATGGCTGAGGGCTGGGC	0.657																																																	0													37.0	33.0	34.0					X																	152959915		2203	4297	6500	SO:0001627	intron_variant	6535				CCDS14726.1, CCDS48190.1	Xq28	2013-07-19	2013-07-19		ENSG00000130821	ENSG00000130821		"""Solute carriers"""	11055	protein-coding gene	gene with protein product	"""creatine transporter"""	300036	"""solute carrier family 6 (neurotransmitter transporter, creatine), member 8"""			7774949	Standard	NM_001142805		Approved	CRTR, CT1	uc004fib.3	P48029	OTTHUMG00000024208	ENST00000253122.5:c.1495+14G>C	X.37:g.152959915G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2KY47|B4DIA3|E9PFC0|Q13032|Q66I36	RNA	SNP	-	NULL	ENST00000253122.5	37	NULL	CCDS14726.1	X																																																																																			SLC6A8	-	-		0.657	SLC6A8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A8	HGNC	protein_coding	OTTHUMT00000061003.1	G			152959915	+1	no_errors	ENST00000485324	ensembl	human	known	70_37	rna	SNP	0.000	C
SLC7A14	57709	genome.wustl.edu	37	3	170204088	170204088	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:170204088C>G	ENST00000231706.5	-	5	1144	c.829G>C	c.(829-831)Gaa>Caa	p.E277Q	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	277					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TTCTTGGCTTCCTCTCCAGTG	0.512																																																	0													355.0	260.0	292.0					3																	170204088		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.829G>C	3.37:g.170204088C>G	ENSP00000231706:p.Glu277Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.E277Q	ENST00000231706.5	37	c.829	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594191	0.86953	.	.	ENSG00000013293	ENST00000231706	D	0.94330	-3.4	5.95	4.18	0.49190	Amino acid permease domain (1);	0.042576	0.85682	D	0.000000	D	0.98043	0.9355	H	0.98754	4.32	0.58432	D	0.999997	D	0.89917	1.0	D	0.91635	0.999	D	0.98130	1.0430	10	0.87932	D	0	.	12.8377	0.57782	0.0:0.869:0.0:0.131	.	277	Q8TBB6	S7A14_HUMAN	Q	277	ENSP00000231706:E277Q	ENSP00000231706:E277Q	E	-	1	0	SLC7A14	171686782	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.429000	0.80309	0.863000	0.35553	0.563000	0.77884	GAA	SLC7A14	-	pfam_AA-permease_dom		0.512	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	C	NM_020949		170204088	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC8A2	6543	genome.wustl.edu	37	19	47960516	47960516	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:47960516G>A	ENST00000236877.6	-	3	1406	c.1011C>T	c.(1009-1011)atC>atT	p.I337I	SLC8A2_ENST00000539381.1_Intron|SLC8A2_ENST00000542837.1_Silent_p.I93I	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	337					blood coagulation (GO:0007596)|cell communication (GO:0007154)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium:sodium antiporter activity (GO:0005432)			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		AGTAGTTGGCGATGCCCACCA	0.667																																																	0													9.0	7.0	8.0					19																	47960516		2031	3971	6002	SO:0001819	synonymous_variant	6543			AB029010	CCDS33065.1	19q13.32	2013-07-15	2008-09-02		ENSG00000118160	ENSG00000118160		"""Solute carriers"""	11069	protein-coding gene	gene with protein product		601901				8021246	Standard	NM_015063		Approved	NCX2, KIAA1087	uc002pgx.3	Q9UPR5	OTTHUMG00000183529	ENST00000236877.6:c.1011C>T	19.37:g.47960516G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYQ9	Silent	SNP	pfam_Calx_beta,pfam_NaCa_Exmemb,smart_Calx_beta,prints_Na_Ca_Ex,tigrfam_Na_Ca_Ex	p.I337	ENST00000236877.6	37	c.1011	CCDS33065.1	19																																																																																			SLC8A2	-	tigrfam_Na_Ca_Ex		0.667	SLC8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC8A2	HGNC	protein_coding	OTTHUMT00000466997.1	G			47960516	-1	no_errors	ENST00000236877	ensembl	human	known	70_37	silent	SNP	1.000	A
SLC9A9	285195	genome.wustl.edu	37	3	143271214	143271214	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:143271214C>G	ENST00000316549.6	-	9	1287	c.1079G>C	c.(1078-1080)aGa>aCa	p.R360T		NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	360					ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|late endosome membrane (GO:0031902)|recycling endosome (GO:0055037)	sodium:proton antiporter activity (GO:0015385)			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						CTGTTTAGTTCTTATTTTGGA	0.348																																																	0													114.0	106.0	108.0					3																	143271214		2203	4300	6503	SO:0001583	missense	285195			AY254100	CCDS33872.1	3q23-q24	2014-01-28	2012-03-22		ENSG00000181804	ENSG00000181804		"""Solute carriers"""	20653	protein-coding gene	gene with protein product		608396	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 9"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 9"""			14569117	Standard	NM_173653		Approved	FLJ35613, NHE9	uc003evn.3	Q8IVB4	OTTHUMG00000159373	ENST00000316549.6:c.1079G>C	3.37:g.143271214C>G	ENSP00000320246:p.Arg360Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMQ9|Q3LIC2|Q5JPI6|Q5WA58|Q8NAB9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.R360T	ENST00000316549.6	37	c.1079	CCDS33872.1	3	.	.	.	.	.	.	.	.	.	.	C	25.3	4.624856	0.87560	.	.	ENSG00000181804	ENST00000316549;ENST00000450105	T	0.54071	0.59	5.6	5.6	0.85130	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.54919	0.1888	N	0.16037	0.36	0.54753	D	0.999989	D	0.62365	0.991	D	0.78314	0.991	T	0.42882	-0.9425	10	0.07030	T	0.85	.	19.9801	0.97322	0.0:1.0:0.0:0.0	.	360	Q8IVB4	SL9A9_HUMAN	T	360;243	ENSP00000320246:R360T	ENSP00000320246:R360T	R	-	2	0	SLC9A9	144753904	1.000000	0.71417	0.988000	0.46212	0.972000	0.66771	6.861000	0.75478	2.808000	0.96608	0.650000	0.86243	AGA	SLC9A9	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.348	SLC9A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A9	HGNC	protein_coding	OTTHUMT00000354994.1	C	NM_173653		143271214	-1	no_errors	ENST00000316549	ensembl	human	known	70_37	missense	SNP	1.000	G
SLCO4A1	28231	genome.wustl.edu	37	20	61290116	61290116	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:61290116G>A	ENST00000370507.1	+	2	980	c.884G>A	c.(883-885)cGa>cAa	p.R295Q	SLCO4A1_ENST00000217159.1_Missense_Mutation_p.R295Q			Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	295					sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)		Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Estradiol(DB00783)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)	GAAATGGGCCGACGGTGAGTG	0.652																																					Pancreas(168;741 2006 10379 40139 45334)												0													25.0	23.0	24.0					20																	61290116		2199	4299	6498	SO:0001583	missense	28231			AB031051	CCDS13501.1	20q13.1	2013-05-22	2003-11-25	2003-11-26	ENSG00000101187	ENSG00000101187		"""Solute carriers"""	10953	protein-coding gene	gene with protein product		612436	"""solute carrier family 21 (organic anion transporter), member 12"""	SLC21A12		10873595	Standard	NM_016354		Approved	OATP-E, OATP4A1	uc002ydb.1	Q96BD0	OTTHUMG00000032923	ENST00000370507.1:c.884G>A	20.37:g.61290116G>A	ENSP00000359538:p.Arg295Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H4T7|Q9H4T8|Q9H8P2|Q9NWX8|Q9UI35|Q9UIG7	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.R295Q	ENST00000370507.1	37	c.884	CCDS13501.1	20	.	.	.	.	.	.	.	.	.	.	G	8.944	0.966648	0.18659	.	.	ENSG00000101187	ENST00000217159;ENST00000370512;ENST00000370507	T;T	0.39056	1.1;1.1	4.31	-8.62	0.00881	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	1.196330	0.06233	N	0.689090	T	0.17365	0.0417	N	0.12887	0.27	0.09310	N	1	B	0.19331	0.035	B	0.16289	0.015	T	0.15925	-1.0420	10	0.14656	T	0.56	.	6.1012	0.20049	0.4669:0.2311:0.302:0.0	.	295	Q96BD0	SO4A1_HUMAN	Q	295	ENSP00000217159:R295Q;ENSP00000359538:R295Q	ENSP00000217159:R295Q	R	+	2	0	SLCO4A1	60760561	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	-0.857000	0.04286	-1.900000	0.01097	-0.275000	0.10095	CGA	SLCO4A1	-	pfam_OA_transporter,pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.652	SLCO4A1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO4A1	HGNC	protein_coding	OTTHUMT00000080048.2	G	NM_016354		61290116	+1	no_errors	ENST00000217159	ensembl	human	known	70_37	missense	SNP	0.000	A
SLIT3	6586	genome.wustl.edu	37	5	168114084	168114084	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:168114084C>T	ENST00000519560.1	-	30	3633	c.3214G>A	c.(3214-3216)Gag>Aag	p.E1072K	SLIT3_ENST00000404867.3_Missense_Mutation_p.E1072K|SLIT3_ENST00000332966.8_Missense_Mutation_p.E1079K	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1072	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|cellular response to hormone stimulus (GO:0032870)|negative chemotaxis (GO:0050919)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of gene expression (GO:0010629)|organ morphogenesis (GO:0009887)|response to cortisol (GO:0051414)|Roundabout signaling pathway (GO:0035385)	extracellular space (GO:0005615)|mitochondrion (GO:0005739)	calcium ion binding (GO:0005509)|Roundabout binding (GO:0048495)			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTCTGTCTCACAGAGCTTC	0.597																																					Ovarian(29;311 847 10864 17279 24903)												0													67.0	61.0	63.0					5																	168114084		2203	4300	6503	SO:0001583	missense	6586			AB011538	CCDS4369.1, CCDS64311.1	5q35	2008-07-18	2001-11-28		ENSG00000184347	ENSG00000184347			11087	protein-coding gene	gene with protein product		603745	"""slit (Drosophila) homolog 3"""	SLIL2		9693030, 9813312	Standard	NM_001271946		Approved	slit2, MEGF5, SLIT1, Slit-3	uc010jjg.4	O75094	OTTHUMG00000130409	ENST00000519560.1:c.3214G>A	5.37:g.168114084C>T	ENSP00000430333:p.Glu1072Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U9|J3KNP3|O95804|Q9UFH5	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Leu-rich_rpt,pfam_Laminin_G,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Leu-rich_rpt_RNase_inh_sub-typ,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.E1072K	ENST00000519560.1	37	c.3214	CCDS4369.1	5	.	.	.	.	.	.	.	.	.	.	C	19.23	3.787143	0.70337	.	.	ENSG00000184347	ENST00000519560;ENST00000332966;ENST00000404867	D;D;D	0.91631	-2.88;-2.88;-2.88	4.45	4.45	0.53987	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.93019	0.7778	M	0.84585	2.705	0.80722	D	1	B	0.29301	0.241	B	0.32465	0.146	D	0.93257	0.6640	10	0.62326	D	0.03	.	16.4627	0.84069	0.0:1.0:0.0:0.0	.	1072	O75094	SLIT3_HUMAN	K	1072;1079;1072	ENSP00000430333:E1072K;ENSP00000332164:E1079K;ENSP00000384890:E1072K	ENSP00000332164:E1079K	E	-	1	0	SLIT3	168046662	1.000000	0.71417	0.809000	0.32408	0.829000	0.46940	4.874000	0.63064	2.181000	0.69327	0.462000	0.41574	GAG	SLIT3	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.597	SLIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT3	HGNC	protein_coding	OTTHUMT00000252792.4	C	NM_003062		168114084	-1	no_errors	ENST00000519560	ensembl	human	known	70_37	missense	SNP	1.000	T
SLITRK1	114798	genome.wustl.edu	37	13	84454368	84454368	+	Silent	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454368G>T	ENST00000377084.2	-	1	2160	c.1275C>A	c.(1273-1275)ctC>ctA	p.L425L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	425					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		ATAGCCACCTGAGGTCCAAAA	0.468																																																	0													188.0	182.0	184.0					13																	84454368		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1275C>A	13.37:g.84454368G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L425	ENST00000377084.2	37	c.1275	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.468	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454368	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	0.999	T
SLITRK1	114798	genome.wustl.edu	37	13	84454386	84454386	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454386G>C	ENST00000377084.2	-	1	2142	c.1257C>G	c.(1255-1257)ttC>ttG	p.F419L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	419					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		AAAGGTTCTTGAAAGTGTTGT	0.468																																																	0													216.0	210.0	212.0					13																	84454386		2203	4300	6503	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1257C>G	13.37:g.84454386G>C	ENSP00000366288:p.Phe419Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5I6|Q96SF9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F419L	ENST00000377084.2	37	c.1257	CCDS9464.1	13	.	.	.	.	.	.	.	.	.	.	G	15.08	2.728233	0.48833	.	.	ENSG00000178235	ENST00000377084	T	0.51325	0.71	5.23	4.33	0.51752	.	0.000000	0.85682	D	0.000000	T	0.55909	0.1950	L	0.45581	1.43	0.49915	D	0.999831	D	0.76494	0.999	D	0.81914	0.995	T	0.53872	-0.8377	10	0.40728	T	0.16	-14.7678	6.6198	0.22796	0.2433:0.0:0.7567:0.0	.	419	Q96PX8	SLIK1_HUMAN	L	419	ENSP00000366288:F419L	ENSP00000366288:F419L	F	-	3	2	SLITRK1	83352387	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.648000	0.24828	1.075000	0.40932	0.561000	0.74099	TTC	SLITRK1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.468	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454386	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	missense	SNP	1.000	C
SLITRK1	114798	genome.wustl.edu	37	13	84454440	84454440	+	Silent	SNP	G	G	A	rs550166518		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454440G>A	ENST00000377084.2	-	1	2088	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	401					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCAACAGAATGAGGTTCTTGT	0.438																																																	0													221.0	215.0	217.0					13																	84454440		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1203C>T	13.37:g.84454440G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L401	ENST00000377084.2	37	c.1203	CCDS9464.1	13																																																																																			SLITRK1	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.438	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454440	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	0.995	A
SLITRK1	114798	genome.wustl.edu	37	13	84454449	84454449	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454449G>A	ENST00000377084.2	-	1	2079	c.1194C>T	c.(1192-1194)taC>taT	p.Y398Y		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	398					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGAGGTTCTTGTAATCCACAA	0.448																																																	0													209.0	203.0	205.0					13																	84454449		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1194C>T	13.37:g.84454449G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.Y398	ENST00000377084.2	37	c.1194	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.448	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454449	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	A
SLITRK1	114798	genome.wustl.edu	37	13	84454521	84454521	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454521G>C	ENST00000377084.2	-	1	2007	c.1122C>G	c.(1120-1122)ctC>ctG	p.L374L		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	374					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GCACGTTAGAGAGCTTGGGCT	0.512																																																	0													98.0	93.0	94.0					13																	84454521		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.1122C>G	13.37:g.84454521G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.L374	ENST00000377084.2	37	c.1122	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.512	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454521	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	0.894	C
SLITRK1	114798	genome.wustl.edu	37	13	84454935	84454935	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84454935G>A	ENST00000377084.2	-	1	1593	c.708C>T	c.(706-708)atC>atT	p.I236I		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	236	LRRCT 1.				adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)		p.I236I(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		CCACTCGGCCGATCAGGGCAT	0.517																																																	1	Substitution - coding silent(1)	ovary(1)											57.0	58.0	58.0					13																	84454935		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.708C>T	13.37:g.84454935G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.I236	ENST00000377084.2	37	c.708	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Cys-rich_flank_reg_C		0.517	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84454935	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	0.998	A
SLITRK1	114798	genome.wustl.edu	37	13	84455052	84455052	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:84455052G>A	ENST00000377084.2	-	1	1476	c.591C>T	c.(589-591)gtC>gtT	p.V197V		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	197					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTTGCTCCAAGACCTCCTCAT	0.537																																																	0													80.0	78.0	79.0					13																	84455052		2203	4300	6503	SO:0001819	synonymous_variant	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.591C>T	13.37:g.84455052G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5I6|Q96SF9	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.V197	ENST00000377084.2	37	c.591	CCDS9464.1	13																																																																																			SLITRK1	-	smart_Leu-rich_rpt_typical-subtyp		0.537	SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK1	HGNC	protein_coding	OTTHUMT00000045396.1	G	NM_052910		84455052	-1	no_errors	ENST00000377084	ensembl	human	known	70_37	silent	SNP	1.000	A
SLITRK3	22865	genome.wustl.edu	37	3	164906555	164906555	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:164906555G>A	ENST00000475390.1	-	2	2507	c.2064C>T	c.(2062-2064)ttC>ttT	p.F688F	SLITRK3_ENST00000241274.3_Silent_p.F688F			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	688					axonogenesis (GO:0007409)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCTTGCTTCTGAAGGGCAGCT	0.547										HNSCC(40;0.11)																																							0													86.0	69.0	75.0					3																	164906555		2203	4300	6503	SO:0001819	synonymous_variant	22865			AB020655	CCDS3197.1	3q26.1	2004-07-28			ENSG00000121871	ENSG00000121871			23501	protein-coding gene	gene with protein product		609679				10048485, 14557068	Standard	NM_014926		Approved	KIAA0848	uc003fek.3	O94933	OTTHUMG00000158072	ENST00000475390.1:c.2064C>T	3.37:g.164906555G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q1RMY6	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.F688	ENST00000475390.1	37	c.2064	CCDS3197.1	3																																																																																			SLITRK3	-	NULL		0.547	SLITRK3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLITRK3	HGNC	protein_coding	OTTHUMT00000350126.1	G	NM_014926		164906555	-1	no_errors	ENST00000241274	ensembl	human	known	70_37	silent	SNP	0.927	A
SLITRK6	84189	genome.wustl.edu	37	13	86368731	86368731	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:86368731C>T	ENST00000400286.2	-	2	2511	c.1913G>A	c.(1912-1914)aGa>aAa	p.R638K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	638					adult locomotory behavior (GO:0008344)|auditory behavior (GO:0031223)|auditory receptor cell morphogenesis (GO:0002093)|axonogenesis (GO:0007409)|cochlea development (GO:0090102)|innervation (GO:0060384)|lens development in camera-type eye (GO:0002088)|linear vestibuloocular reflex (GO:0060007)|multicellular organism growth (GO:0035264)|sensory perception of sound (GO:0007605)|startle response (GO:0001964)|synapse assembly (GO:0007416)|vestibulocochlear nerve development (GO:0021562)|visual perception (GO:0007601)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTTTTGTATCTTCTCCTGCG	0.413																																																	0													142.0	136.0	138.0					13																	86368731		1962	4160	6122	SO:0001583	missense	84189			AK026427	CCDS41903.1	13q31.1	2006-04-12			ENSG00000184564	ENSG00000184564			23503	protein-coding gene	gene with protein product		609681				14557068	Standard	NM_032229		Approved	FLJ22774	uc001vll.1	Q9H5Y7	OTTHUMG00000017157	ENST00000400286.2:c.1913G>A	13.37:g.86368731C>T	ENSP00000383143:p.Arg638Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9S8|Q495Q0|Q6AW93|Q9HAA8|Q9NT60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.R638K	ENST00000400286.2	37	c.1913	CCDS41903.1	13	.	.	.	.	.	.	.	.	.	.	C	2.355	-0.347867	0.05208	.	.	ENSG00000184564	ENST00000400286	T	0.52526	0.66	5.38	4.54	0.55810	.	0.000000	0.64402	U	0.000002	T	0.27278	0.0669	N	0.17082	0.46	0.41069	D	0.985434	B	0.13145	0.007	B	0.09377	0.004	T	0.12041	-1.0563	10	0.02654	T	1	-11.9761	12.5679	0.56320	0.0:0.9193:0.0:0.0807	.	638	Q9H5Y7	SLIK6_HUMAN	K	638	ENSP00000383143:R638K	ENSP00000383143:R638K	R	-	2	0	SLITRK6	85266732	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	2.318000	0.43779	1.261000	0.44149	0.655000	0.94253	AGA	SLITRK6	-	NULL		0.413	SLITRK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLITRK6	HGNC	protein_coding	OTTHUMT00000045404.2	C	NM_032229		86368731	-1	no_errors	ENST00000400286	ensembl	human	known	70_37	missense	SNP	0.997	T
SLX4	84464	genome.wustl.edu	37	16	3656621	3656621	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3656621G>A	ENST00000294008.3	-	3	1254	c.614C>T	c.(613-615)aCa>aTa	p.T205I		NM_032444.2	NP_115820.2	Q8IY92	SLX4_HUMAN	SLX4 structure-specific endonuclease subunit	205	Interaction with SLX4IP, ERCC4 and MSH2.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing involved in repair via single-strand annealing (GO:0010792)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|double-strand break repair via homologous recombination (GO:0000724)|nucleotide-excision repair (GO:0006289)|positive regulation of catalytic activity (GO:0043085)|response to intra-S DNA damage checkpoint signaling (GO:0072429)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|Slx1-Slx4 complex (GO:0033557)	5'-flap endonuclease activity (GO:0017108)|enzyme activator activity (GO:0008047)			breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						CAATTGTGCTGTGCGGGGTTT	0.557								Direct reversal of damage																																									0													186.0	186.0	186.0					16																	3656621		2197	4300	6497	SO:0001583	missense	84464			AB058687	CCDS10506.2	16p13.3	2014-09-17	2013-06-05	2010-09-13	ENSG00000188827	ENSG00000188827		"""Fanconi anemia, complementation groups"", ""BTB/POZ domain containing"""	23845	protein-coding gene	gene with protein product	"""Fanconi anemia, complementation group P"""	613278	"""BTB (POZ) domain containing 12"", ""SLX4 structure-specific endonuclease subunit homolog (S. cerevisiae)"""	BTBD12		11347906, 19595721	Standard	NM_032444		Approved	KIAA1784, KIAA1987, FANCP	uc002cvp.2	Q8IY92	OTTHUMG00000074089	ENST00000294008.3:c.614C>T	16.37:g.3656621G>A	ENSP00000294008:p.Thr205Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YT8|Q8TF15|Q96JP1	Missense_Mutation	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like	p.T205I	ENST00000294008.3	37	c.614	CCDS10506.2	16	.	.	.	.	.	.	.	.	.	.	G	11.03	1.520077	0.27211	.	.	ENSG00000188827	ENST00000294008	T	0.01197	5.19	5.16	4.18	0.49190	.	0.547918	0.17158	N	0.184795	T	0.01222	0.0040	L	0.38175	1.15	0.09310	N	1	P	0.45126	0.851	B	0.36134	0.218	T	0.54105	-0.8343	10	0.49607	T	0.09	.	10.5256	0.44945	0.1628:0.0:0.8372:0.0	.	205	Q8IY92	SLX4_HUMAN	I	205	ENSP00000294008:T205I	ENSP00000294008:T205I	T	-	2	0	SLX4	3596622	0.131000	0.22433	0.036000	0.18154	0.435000	0.31806	2.345000	0.44018	1.280000	0.44463	0.655000	0.94253	ACA	SLX4	-	NULL		0.557	SLX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4	HGNC	protein_coding	OTTHUMT00000157301.3	G	NM_032444		3656621	-1	no_errors	ENST00000294008	ensembl	human	known	70_37	missense	SNP	0.017	A
SMAP2	64744	genome.wustl.edu	37	1	40887752	40887752	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:40887752C>T	ENST00000539317.1	+	10	1222	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	423	Interaction with PICALM. {ECO:0000250}.|Met-rich.				regulation of ARF GTPase activity (GO:0032312)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			ATCAGACTCTCAGTCCTCAGA	0.517																																																	0													100.0	85.0	90.0					1																	40887752		2203	4300	6503	SO:0001819	synonymous_variant	64744			AL137764	CCDS451.1, CCDS55592.1, CCDS55593.1, CCDS72763.1	1p35.3-p34.1	2008-09-22	2008-09-05	2008-01-09	ENSG00000084070	ENSG00000084070		"""ADP-ribosylation factor GTPase activating proteins"""	25082	protein-coding gene	gene with protein product			"""stromal membrane-associated protein 1-like"", ""stromal membrane-associated GTPase-activating protein 2"""	SMAP1L		16571680	Standard	NM_001198978		Approved		uc001cfj.3	Q8WU79	OTTHUMG00000007301	ENST00000539317.1:c.1029C>T	1.37:g.40887752C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7T1|B7Z5B5|B7Z8V2|D3DPV2|Q5QPL2|Q96C93|Q9NST2|Q9UJL8	Silent	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.L423	ENST00000539317.1	37	c.1269	CCDS55593.1	1																																																																																			SMAP2	-	NULL		0.517	SMAP2-201	KNOWN	basic|CCDS	protein_coding	SMAP2	HGNC	protein_coding		C	NM_022733		40887752	+1	no_errors	ENST00000372718	ensembl	human	known	70_37	silent	SNP	1.000	T
SMARCA2	6595	genome.wustl.edu	37	9	2104063	2104063	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:2104063G>C	ENST00000382203.1	+	23	3395	c.3186G>C	c.(3184-3186)ttG>ttC	p.L1062F	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L1062F|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L1062F|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L1062F			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	1062	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|chromatin remodeling (GO:0006338)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intermediate filament cytoskeleton (GO:0045111)|intracellular membrane-bounded organelle (GO:0043231)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	ATP binding (GO:0005524)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		TGCCAAAATTGAGAGCGACTA	0.443																																																	0													229.0	210.0	217.0					9																	2104063		2203	4300	6503	SO:0001583	missense	6595			D26155	CCDS34977.1, CCDS34978.1, CCDS75807.1, CCDS75808.1	9p24.3	2008-11-11	2006-11-09		ENSG00000080503	ENSG00000080503			11098	protein-coding gene	gene with protein product		600014		SNF2L2		8012116	Standard	NM_003070		Approved	BAF190, hSNF2a, hBRM, Sth1p, SNF2LA, BRM, SNF2, SWI2	uc003zhc.3	P51531	OTTHUMG00000019445	ENST00000382203.1:c.3186G>C	9.37:g.2104063G>C	ENSP00000371638:p.Leu1062Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALG3|B1ALG4|D3DRH4|D3DRH5	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,superfamily_RNaseH-like_dom,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.L1062F	ENST00000382203.1	37	c.3186	CCDS34977.1	9	.	.	.	.	.	.	.	.	.	.	G	18.49	3.635349	0.67130	.	.	ENSG00000080503	ENST00000349721;ENST00000357248;ENST00000382203;ENST00000382194	T;T;T;T	0.78481	-1.18;-1.18;-1.18;-1.18	5.69	3.85	0.44370	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000013	D	0.86602	0.5972	M	0.85373	2.75	0.80722	D	1	B;D;D	0.76494	0.416;0.999;0.998	B;D;D	0.83275	0.325;0.996;0.991	D	0.84896	0.0839	10	0.25106	T	0.35	-16.3893	9.9548	0.41660	0.2214:0.0:0.7786:0.0	.	663;1062;1062	B4DK35;P51531-2;P51531	.;.;SMCA2_HUMAN	F	1062	ENSP00000265773:L1062F;ENSP00000349788:L1062F;ENSP00000371638:L1062F;ENSP00000371629:L1062F	ENSP00000265773:L1062F	L	+	3	2	SMARCA2	2094063	0.980000	0.34600	0.805000	0.32314	0.991000	0.79684	1.140000	0.31516	1.412000	0.46977	0.563000	0.77884	TTG	SMARCA2	-	pfscan_Helicase_C		0.443	SMARCA2-003	KNOWN	basic|CCDS	protein_coding	SMARCA2	HGNC	protein_coding	OTTHUMT00000051505.1	G	NM_003070		2104063	+1	no_errors	ENST00000349721	ensembl	human	known	70_37	missense	SNP	0.999	C
SMC4	10051	genome.wustl.edu	37	3	160135675	160135675	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:160135675C>G	ENST00000357388.3	+	11	2053	c.1602C>G	c.(1600-1602)ctC>ctG	p.L534L	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.L534L|SMC4_ENST00000469762.1_Silent_p.L509L|SMC4_ENST00000344722.5_Silent_p.L534L|SMC4_ENST00000360111.2_Silent_p.L534L	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	534					kinetochore organization (GO:0051383)|meiotic chromosome condensation (GO:0010032)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)|mitotic sister chromatid segregation (GO:0000070)	condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein heterodimerization activity (GO:0046982)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTGAGACTCTCAAAGAAAGGA	0.393																																																	0													58.0	57.0	57.0					3																	160135675		2203	4300	6503	SO:0001819	synonymous_variant	10051			AF092564	CCDS3189.1, CCDS75046.1	3q26.1	2006-07-06	2006-07-06	2006-07-06	ENSG00000113810	ENSG00000113810		"""Structural maintenance of chromosomes proteins"""	14013	protein-coding gene	gene with protein product		605575	"""SMC4 (structural maintenance of chromosomes 4, yeast)-like 1"", ""SMC4 structural maintenance of chromosomes 4-like 1 (yeast)"""	SMC4L1		9789013, 10319587	Standard	NM_005496		Approved	hCAP-C, CAP-C	uc003fdh.3	Q9NTJ3	OTTHUMG00000159006	ENST00000357388.3:c.1602C>G	3.37:g.160135675C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLT9|D3DNL8|O95752|Q8NDL4|Q9UNT9	Silent	SNP	pfam_RecF/RecN/SMC,pfam_SMC_hinge,superfamily_SMC_hinge,superfamily_Chemotax_Me-accpt_rcpt_lig-bd,superfamily_Prefoldin,smart_SMC_hinge	p.L534	ENST00000357388.3	37	c.1602	CCDS3189.1	3																																																																																			SMC4	-	pfam_RecF/RecN/SMC		0.393	SMC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMC4	HGNC	protein_coding	OTTHUMT00000352862.1	C			160135675	+1	no_errors	ENST00000344722	ensembl	human	known	70_37	silent	SNP	0.977	G
SMEK1	55671	genome.wustl.edu	37	14	91928486	91928486	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:91928486C>G	ENST00000554943.1	-	13	2186	c.2071G>C	c.(2071-2073)Gaa>Caa	p.E691Q	SMEK1_ENST00000554684.1_Missense_Mutation_p.E678Q|SMEK1_ENST00000428424.2_Missense_Mutation_p.E452Q|SMEK1_ENST00000337238.4_Missense_Mutation_p.E678Q|SMEK1_ENST00000555462.1_Missense_Mutation_p.E452Q|SMEK1_ENST00000555718.1_5'UTR			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	691					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		TCTCCATCTTCCATGTCATCT	0.358																																																	0													178.0	139.0	152.0					14																	91928486		2203	4300	6503	SO:0001583	missense	55671			AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.2071G>C	14.37:g.91928486C>G	ENSP00000450883:p.Glu691Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	pfam_DUF625,superfamily_ARM-type_fold	p.E691Q	ENST00000554943.1	37	c.2071		14	.	.	.	.	.	.	.	.	.	.	C	29.0	4.972984	0.92919	.	.	ENSG00000100796	ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390	T;T;T;T	0.55234	0.53;0.53;0.56;0.53	5.72	5.72	0.89469	.	0.041695	0.85682	D	0.000000	T	0.57961	0.2089	L	0.60455	1.87	0.80722	D	1	P;P;P	0.50819	0.939;0.87;0.498	P;B;B	0.45474	0.482;0.299;0.23	T	0.61222	-0.7106	10	0.56958	D	0.05	-11.2564	19.876	0.96870	0.0:1.0:0.0:0.0	.	452;691;678	Q6IN85-4;Q6IN85;Q6IN85-2	.;P4R3A_HUMAN;.	Q	678;678;452;691;452;678	ENSP00000450864:E678Q;ENSP00000337125:E678Q;ENSP00000450883:E691Q;ENSP00000452596:E678Q	ENSP00000337125:E678Q	E	-	1	0	SMEK1	90998239	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.731000	0.84895	2.709000	0.92574	0.591000	0.81541	GAA	SMEK1	-	NULL		0.358	SMEK1-007	KNOWN	basic	protein_coding	SMEK1	HGNC	protein_coding	OTTHUMT00000411665.1	C	NM_032560		91928486	-1	no_errors	ENST00000554943	ensembl	human	known	70_37	missense	SNP	1.000	G
SMURF2	64750	genome.wustl.edu	37	17	62594576	62594576	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:62594576C>G	ENST00000262435.9	-	3	311	c.124G>C	c.(124-126)Gat>Cat	p.D42H	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	42	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				BMP signaling pathway (GO:0030509)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|SMAD binding (GO:0046332)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			CCAGATCCATCAACCACCACC	0.338																																																	0													104.0	99.0	101.0					17																	62594576		2203	4300	6503	SO:0001583	missense	64750			AF301463	CCDS32707.1	17q22-q23	2012-10-05			ENSG00000108854	ENSG00000108854			16809	protein-coding gene	gene with protein product		605532				11016919	Standard	XM_005257585		Approved		uc002jep.1	Q9HAU4	OTTHUMG00000179189	ENST00000262435.9:c.124G>C	17.37:g.62594576C>G	ENSP00000262435:p.Asp42His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL1|Q9H260	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP	p.D42H	ENST00000262435.9	37	c.124	CCDS32707.1	17	.	.	.	.	.	.	.	.	.	.	C	14.22	2.471323	0.43942	.	.	ENSG00000108854	ENST00000262435	T	0.68765	-0.35	4.65	4.65	0.58169	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	D	0.83376	0.5241	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.86609	0.1871	10	0.87932	D	0	.	17.9028	0.88910	0.0:1.0:0.0:0.0	.	42	Q9HAU4	SMUF2_HUMAN	H	42	ENSP00000262435:D42H	ENSP00000262435:D42H	D	-	1	0	SMURF2	60025038	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.729000	0.84864	2.289000	0.77006	0.555000	0.69702	GAT	SMURF2	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.338	SMURF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMURF2	HGNC	protein_coding	OTTHUMT00000445227.1	C	NM_022739		62594576	-1	no_errors	ENST00000262435	ensembl	human	known	70_37	missense	SNP	1.000	G
SNHG14	104472715	genome.wustl.edu	37	15	25463777	25463777	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:25463777G>C	ENST00000424208.1	+	0	2994				SNORD115-27_ENST00000364430.1_RNA|SNHG14_ENST00000453082.2_RNA|SNHG14_ENST00000365067.1_RNA	NR_003305.1				small nucleolar RNA host gene 14 (non-protein coding)																		TCAGTGATGAGAACCTTATAT	0.522																																																	0													357.0	366.0	363.0					15																	25463777		876	1991	2867			100033802					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25463777G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000424208.1	37	NULL		15																																																																																			SNORD115-26	-	-		0.522	SNHG14-002	KNOWN	basic	antisense	SNORD115-26	HGNC	processed_transcript	OTTHUMT00000126729.2	G			25463777	+1	no_errors	ENST00000365067	ensembl	human	known	70_37	rna	SNP	0.034	C
SNX29	92017	genome.wustl.edu	37	16	12571627	12571627	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:12571627G>A	ENST00000566228.1	+	19	2158	c.2089G>A	c.(2089-2091)Gag>Aag	p.E697K	SNX29_ENST00000306030.3_Missense_Mutation_p.E312K|SNX29_ENST00000323433.4_Missense_Mutation_p.E312K	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	697	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.					extracellular vesicular exosome (GO:0070062)	phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CCGGTATACAGAGTTCAGGAG	0.418																																																	0													69.0	66.0	67.0					16																	12571627		1885	4105	5990	SO:0001583	missense	92017			AK074072	CCDS10553.2	16p13.13-p13.12	2011-08-16			ENSG00000048471	ENSG00000048471		"""Sorting nexins"""	30542	protein-coding gene	gene with protein product			"""RUN domain containing 2A"""	RUNDC2A		16782399	Standard	XM_005255682		Approved	FLJ12363	uc002dby.5	Q8TEQ0		ENST00000566228.1:c.2089G>A	16.37:g.12571627G>A	ENSP00000456480:p.Glu697Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDW2|Q8N2X2|Q9HA26	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.E312K	ENST00000566228.1	37	c.934	CCDS10553.2	16	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222014	0.79464	.	.	ENSG00000048471	ENST00000306030;ENST00000323433	T;T	0.49139	0.79;0.79	5.84	5.84	0.93424	.	0.125415	0.52532	D	0.000072	T	0.67933	0.2946	M	0.79475	2.455	0.43152	D	0.994921	.	.	.	.	.	.	T	0.70699	-0.4800	8	0.66056	D	0.02	-26.7043	17.6471	0.88151	0.0:0.0:1.0:0.0	.	.	.	.	K	312	ENSP00000306940:E312K;ENSP00000322226:E312K	ENSP00000306940:E312K	E	+	1	0	SNX29	12479128	1.000000	0.71417	0.967000	0.41034	0.966000	0.64601	9.236000	0.95360	2.758000	0.94735	0.655000	0.94253	GAG	SNX29	-	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox		0.418	SNX29-005	PUTATIVE	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SNX29	HGNC	protein_coding	OTTHUMT00000422622.1	G			12571627	+1	no_errors	ENST00000306030	ensembl	human	known	70_37	missense	SNP	1.000	A
SOAT2	8435	genome.wustl.edu	37	12	53509913	53509913	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:53509913G>A	ENST00000301466.3	+	7	801	c.741G>A	c.(739-741)ctG>ctA	p.L247L		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	247					cholesterol efflux (GO:0033344)|cholesterol esterification (GO:0034435)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|intestinal cholesterol absorption (GO:0030299)|macrophage derived foam cell differentiation (GO:0010742)|very-low-density lipoprotein particle assembly (GO:0034379)	brush border (GO:0005903)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	cholesterol binding (GO:0015485)|cholesterol O-acyltransferase activity (GO:0034736)|fatty-acyl-CoA binding (GO:0000062)|transferase activity, transferring acyl groups (GO:0016746)			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18					Hesperetin(DB01094)	ACTCCTTCCTGAGAGAGGCTG	0.527																																																	0													157.0	140.0	146.0					12																	53509913		2203	4300	6503	SO:0001819	synonymous_variant	8435			AF059203	CCDS8847.1	12q13.13	2012-09-20			ENSG00000167780	ENSG00000167780	2.3.1.26		11178	protein-coding gene	gene with protein product		601311				9756920	Standard	NM_003578		Approved	ACAT2	uc001sbv.3	O75908	OTTHUMG00000169774	ENST00000301466.3:c.741G>A	12.37:g.53509913G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H7W4|I6L9H9|Q4VB99|Q4VBA1|Q96TD4|Q9UNR2	Silent	SNP	pfam_MBOAT_fam	p.L247	ENST00000301466.3	37	c.741	CCDS8847.1	12																																																																																			SOAT2	-	pfam_MBOAT_fam		0.527	SOAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOAT2	HGNC	protein_coding	OTTHUMT00000405817.1	G			53509913	+1	no_errors	ENST00000301466	ensembl	human	known	70_37	silent	SNP	1.000	A
SON	6651	genome.wustl.edu	37	21	34942133	34942133	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:34942133C>G	ENST00000356577.4	+	8	7360				SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein						cytokinesis (GO:0000910)|microtubule cytoskeleton organization (GO:0000226)|mRNA processing (GO:0006397)|negative regulation of apoptotic process (GO:0043066)|regulation of cell cycle (GO:0051726)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)	nuclear speck (GO:0016607)|nucleus (GO:0005634)	DNA binding (GO:0003677)|nucleic acid binding (GO:0003676)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						CTAGTGGCCTCTGGTGATCCA	0.502																																																	0																																										SO:0001627	intron_variant	6651			AF380181	CCDS13629.1, CCDS13631.1, CCDS74784.1	21q22.1-q22.2	2013-01-28			ENSG00000159140	ENSG00000159140		"""G patch domain containing"""	11183	protein-coding gene	gene with protein product	"""NRE-binding protein"", ""negative regulatory element-binding protein"", ""Bax antagonist selected in Saccharomyces 1"""	182465		C21orf50		8318737, 21551269	Standard	NM_032195		Approved	DBP-5, NREBP, KIAA1019, BASS1, FLJ21099, FLJ33914	uc002yse.1	P18583	OTTHUMG00000065806	ENST00000356577.4:c.6885+740C>G	21.37:g.34942133C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSF5|D3DSF6|E7ETE8|E7EU67|E7EVW3|E9PFQ2|O14487|O95981|Q14120|Q6PKE0|Q9H7B1|Q9P070|Q9P072|Q9UKP9|Q9UPY0	RNA	SNP	-	NULL	ENST00000356577.4	37	NULL	CCDS13629.1	21																																																																																			SON	-	-		0.502	SON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SON	HGNC	protein_coding	OTTHUMT00000140978.2	C	NM_138927		34942133	+1	no_errors	ENST00000467616	ensembl	human	known	70_37	rna	SNP	1.000	G
SORL1	6653	genome.wustl.edu	37	11	121384885	121384885	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:121384885G>A	ENST00000260197.7	+	8	1195	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	356					cell death (GO:0008219)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)|negative regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902960)|negative regulation of beta-amyloid formation (GO:1902430)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of neurofibrillary tangle assembly (GO:1902997)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron death (GO:1901215)|negative regulation of protein binding (GO:0032091)|negative regulation of protein oligomerization (GO:0032460)|negative regulation of tau-protein kinase activity (GO:1902948)|positive regulation of choline O-acetyltransferase activity (GO:1902771)|positive regulation of early endosome to recycling endosome transport (GO:1902955)|positive regulation of endocytic recycling (GO:2001137)|positive regulation of ER to Golgi vesicle-mediated transport (GO:1902953)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|positive regulation of protein localization to early endosome (GO:1902966)|post-Golgi vesicle-mediated transport (GO:0006892)|protein maturation (GO:0051604)|protein retention in Golgi apparatus (GO:0045053)|protein targeting (GO:0006605)|protein targeting to Golgi (GO:0000042)|protein targeting to lysosome (GO:0006622)|receptor-mediated endocytosis (GO:0006898)|regulation of smooth muscle cell migration (GO:0014910)|signal transduction (GO:0007165)	early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna (GO:0031985)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|membrane (GO:0016020)|multivesicular body (GO:0005771)|neuronal cell body (GO:0043025)|nuclear envelope lumen (GO:0005641)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)	ADP-ribosylation factor binding (GO:0030306)|beta-amyloid binding (GO:0001540)|low-density lipoprotein particle binding (GO:0030169)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGATGCCTCCGAGGACCAGGT	0.458																																																	0													112.0	107.0	109.0					11																	121384885		2203	4299	6502	SO:0001583	missense	6653			Y08110	CCDS8436.1	11q23.2-q24.4	2014-06-05	2011-01-25		ENSG00000137642	ENSG00000137642		"""Fibronectin type III domain containing"""	11185	protein-coding gene	gene with protein product	"""LDLR relative with 11 ligand-binding repeats"""	602005	"""chromosome 11 open reading frame 32"", ""sortilin-related receptor, L(DLR class) A repeats-containing"""	C11orf32		9157966, 8940146	Standard	NM_003105		Approved	gp250, LR11, LRP9, SorLA, SorLA-1	uc001pxx.3	Q92673	OTTHUMG00000166057	ENST00000260197.7:c.1066G>A	11.37:g.121384885G>A	ENSP00000260197:p.Glu356Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX7|Q92856	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_Fibronectin_type3,pfam_LDLR_classB_rpt,superfamily_Fibronectin_type3,superfamily_LDrepeatLR_classA_rpt,smart_VPS10,smart_LDLR_classB_rpt,smart_LDrepeatLR_classA_rpt,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.E356K	ENST00000260197.7	37	c.1066	CCDS8436.1	11	.	.	.	.	.	.	.	.	.	.	G	35	5.555786	0.96514	.	.	ENSG00000137642	ENST00000260197	T	0.22134	1.97	5.66	5.66	0.87406	VPS10 (1);	0.000000	0.85682	D	0.000000	T	0.54727	0.1876	M	0.86502	2.82	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.58945	-0.7546	10	0.54805	T	0.06	.	19.76	0.96311	0.0:0.0:1.0:0.0	.	356	Q92673	SORL_HUMAN	K	356	ENSP00000260197:E356K	ENSP00000260197:E356K	E	+	1	0	SORL1	120890095	1.000000	0.71417	0.968000	0.41197	0.988000	0.76386	9.827000	0.99397	2.666000	0.90696	0.655000	0.94253	GAG	SORL1	-	smart_VPS10		0.458	SORL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORL1	HGNC	protein_coding	OTTHUMT00000387626.2	G	NM_003105		121384885	+1	no_errors	ENST00000260197	ensembl	human	known	70_37	missense	SNP	1.000	A
SOS2	6655	genome.wustl.edu	37	14	50612206	50612206	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:50612206G>C	ENST00000216373.5	-	15	2767	c.2493C>G	c.(2491-2493)ctC>ctG	p.L831L	SOS2_ENST00000543680.1_Silent_p.L798L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	831	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	DNA binding (GO:0003677)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTTCAAACCAGAGGGTGAGAT	0.318																																																	0													97.0	98.0	97.0					14																	50612206		2203	4300	6503	SO:0001819	synonymous_variant	6655			L13858	CCDS9697.1	14q21	2013-01-10	2001-12-04		ENSG00000100485	ENSG00000100485		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	11188	protein-coding gene	gene with protein product		601247	"""son of sevenless (Drosophilia) homolog 2"""			8276400	Standard	NM_006939		Approved		uc001wxs.4	Q07890	OTTHUMG00000140292	ENST00000216373.5:c.2493C>G	14.37:g.50612206G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKT6|D3DSB4|Q15503|Q17RN1	Silent	SNP	pfam_RasGRF_CDC25,pfam_Ras-like_Gua-exchang_fac_N,pfam_DH-domain,pfam_Pleckstrin_homology,pfam_Histone_core_D,superfamily_Ras_GEF_dom,superfamily_Histone-fold,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,smart_Ras-like_Gua-exchang_fac_N,smart_RasGRF_CDC25,pfscan_Pleckstrin_homology,pfscan_DH-domain,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N	p.L831	ENST00000216373.5	37	c.2493	CCDS9697.1	14																																																																																			SOS2	-	pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25		0.318	SOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOS2	HGNC	protein_coding	OTTHUMT00000276878.2	G			50612206	-1	no_errors	ENST00000216373	ensembl	human	known	70_37	silent	SNP	0.874	C
SP100	6672	genome.wustl.edu	37	2	231313845	231313845	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:231313845C>T	ENST00000264052.5	+	6	921	c.566C>T	c.(565-567)tCg>tTg	p.S189L	SP100_ENST00000409824.1_Missense_Mutation_p.S164L|SP100_ENST00000409112.1_Missense_Mutation_p.S189L|SP100_ENST00000340126.4_Missense_Mutation_p.S189L|SP100_ENST00000409897.1_Missense_Mutation_p.S154L|SP100_ENST00000427101.2_Missense_Mutation_p.S164L|SP100_ENST00000409341.1_Missense_Mutation_p.S189L|SP100_ENST00000341950.4_Missense_Mutation_p.S189L	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	189					cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of cellular component movement (GO:0051271)|negative regulation of DNA binding (GO:0043392)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of protein export from nucleus (GO:0046826)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral transcription (GO:0032897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902041)|regulation of Fas signaling pathway (GO:1902044)|response to cytokine (GO:0034097)|response to interferon-gamma (GO:0034341)|response to retinoic acid (GO:0032526)|response to type I interferon (GO:0034340)|retinoic acid receptor signaling pathway (GO:0048384)|telomere maintenance (GO:0000723)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear periphery (GO:0034399)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|protein domain specific binding (GO:0019904)|protein homodimerization activity (GO:0042803)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TGGCCACCTTCGGGTTCCCCA	0.458																																																	0													143.0	131.0	135.0					2																	231313845		2203	4300	6503	SO:0001583	missense	6672			AF056322	CCDS2477.1, CCDS42832.1, CCDS56170.1, CCDS56171.1, CCDS56172.1, CCDS56173.1	2q37.1	2013-01-28	2005-11-30		ENSG00000067066	ENSG00000067066		"""Zinc fingers, PHD-type"""	11206	protein-coding gene	gene with protein product		604585	"""nuclear antigen Sp100"""			2258622, 8695863	Standard	NM_001080391		Approved		uc002vqu.1	P23497	OTTHUMG00000133203	ENST00000264052.5:c.566C>T	2.37:g.231313845C>T	ENSP00000264052:p.Ser189Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDX5|B8ZZD8|E7EUA7|E9PH61|F8WFE2|O75450|Q13343|Q8TE34|Q96F70|Q96T24|Q96T95|Q9NP33|Q9UE32	Missense_Mutation	SNP	pfam_Sp100,pfam_SAND_dom,pfam_Bromodomain,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom	p.S189L	ENST00000264052.5	37	c.566	CCDS2477.1	2	.	.	.	.	.	.	.	.	.	.	C	2.438	-0.329224	0.05314	.	.	ENSG00000067066	ENST00000264052;ENST00000427101;ENST00000432979;ENST00000409824;ENST00000409341;ENST00000409112;ENST00000340126;ENST00000341950;ENST00000409897	T;T;T;T;T;T;T;T;T	0.80393	2.28;2.18;0.88;2.18;2.17;-1.37;0.2;2.16;2.17	3.56	-4.41	0.03590	.	.	.	.	.	T	0.54303	0.1850	N	0.14661	0.345	0.09310	N	1	B;B;B;B;B;B;B;B	0.25048	0.066;0.0;0.043;0.0;0.043;0.0;0.001;0.117	B;B;B;B;B;B;B;B	0.15870	0.006;0.0;0.004;0.0;0.004;0.0;0.0;0.014	T	0.39251	-0.9623	9	0.18710	T	0.47	.	1.7755	0.03021	0.1109:0.3104:0.2375:0.3412	.	164;189;154;189;189;189;164;189	F8WFE2;B4E2B9;B8ZZD8;P23497-4;P23497;E7EUA7;E9PHV6;P23497-2	.;.;.;.;SP100_HUMAN;.;.;.	L	189;164;164;164;189;189;189;189;154	ENSP00000264052:S189L;ENSP00000399389:S164L;ENSP00000391616:S164L;ENSP00000387311:S164L;ENSP00000386404:S189L;ENSP00000386427:S189L;ENSP00000343023:S189L;ENSP00000342729:S189L;ENSP00000386998:S154L	ENSP00000264052:S189L	S	+	2	0	SP100	231022089	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.349000	0.07731	-1.662000	0.01482	-2.057000	0.00402	TCG	SP100	-	NULL		0.458	SP100-001	KNOWN	basic|CCDS	protein_coding	SP100	HGNC	protein_coding	OTTHUMT00000256914.2	C	NM_003113		231313845	+1	no_errors	ENST00000340126	ensembl	human	known	70_37	missense	SNP	0.000	T
SPAG17	200162	genome.wustl.edu	37	1	118548123	118548123	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:118548123C>G	ENST00000336338.5	-	32	4755	c.4690G>C	c.(4690-4692)Gag>Cag	p.E1564Q		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1564						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CGCAGCTGCTCACGCTTTTGA	0.443																																																	0													129.0	125.0	126.0					1																	118548123		2203	4300	6503	SO:0001583	missense	200162				CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.4690G>C	1.37:g.118548123C>G	ENSP00000337804:p.Glu1564Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NAZ1|Q9NT21	Missense_Mutation	SNP	NULL	p.E1564Q	ENST00000336338.5	37	c.4690	CCDS899.1	1	.	.	.	.	.	.	.	.	.	.	C	11.53	1.666215	0.29604	.	.	ENSG00000155761	ENST00000336338;ENST00000437255	T	0.22336	1.96	5.72	3.85	0.44370	.	0.665983	0.15973	N	0.235679	T	0.11793	0.0287	M	0.61703	1.905	0.09310	N	1	P	0.46512	0.879	P	0.44394	0.448	T	0.09596	-1.0667	10	0.56958	D	0.05	.	7.385	0.26878	0.0:0.6767:0.0:0.3233	.	1564	Q6Q759	SPG17_HUMAN	Q	1564;44	ENSP00000337804:E1564Q	ENSP00000337804:E1564Q	E	-	1	0	SPAG17	118349646	0.293000	0.24371	0.235000	0.24058	0.102000	0.19082	0.912000	0.28597	0.768000	0.33290	0.655000	0.94253	GAG	SPAG17	-	NULL		0.443	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG17	HGNC	protein_coding	OTTHUMT00000033723.1	C	NM_206996		118548123	-1	no_errors	ENST00000336338	ensembl	human	known	70_37	missense	SNP	0.029	G
SPAG6	9576	genome.wustl.edu	37	10	22634677	22634677	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:22634677G>A	ENST00000376624.3	+	2	193	c.51G>A	c.(49-51)agG>agA	p.R17R	SPAG6_ENST00000376601.1_Silent_p.R17R|SPAG6_ENST00000538630.1_5'UTR|SPAG6_ENST00000376603.2_Silent_p.R17R|SPAG6_ENST00000313311.6_Silent_p.R17R	NM_001253855.1|NM_012443.3	NP_001240784.1|NP_036575.1	O75602	SPAG6_HUMAN	sperm associated antigen 6	17					cell projection organization (GO:0030030)|spermatid development (GO:0007286)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|motile cilium (GO:0031514)|nucleus (GO:0005634)				breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|prostate(1)|skin(2)	27						AGAAGGCCAGGACCCAGTTCG	0.672																																																	0													44.0	38.0	40.0					10																	22634677		2203	4300	6503	SO:0001819	synonymous_variant	9576			AF079363	CCDS7139.1, CCDS7140.1, CCDS58071.1, CCDS73072.1	10p12.31	2014-01-21			ENSG00000077327	ENSG00000077327		"""Armadillo repeat containing"""	11215	protein-coding gene	gene with protein product	"""axoneme central apparatus protein"""	605730				10493827	Standard	NM_012443		Approved	Repro-SA-1, pf16, CT141	uc001iri.3	O75602	OTTHUMG00000017808	ENST00000376624.3:c.51G>A	10.37:g.22634677G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1I8|B4DXZ4|Q5VUX5|Q5VUX6|Q5VUX7|Q6FI74|Q8NHQ6	Silent	SNP	pfam_Armadillo,pfam_HEAT,pfam_26S_Psome_nonATP_su5,superfamily_ARM-type_fold,smart_Armadillo	p.R17	ENST00000376624.3	37	c.51	CCDS7139.1	10																																																																																			SPAG6	-	NULL		0.672	SPAG6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	SPAG6	HGNC	protein_coding	OTTHUMT00000047187.1	G			22634677	+1	no_errors	ENST00000376603	ensembl	human	known	70_37	silent	SNP	0.993	A
SPATA31E1	286234	genome.wustl.edu	37	9	90500620	90500620	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:90500620C>T	ENST00000325643.5	+	4	1284	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	406					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											TAAATCCCTTCTGGAACGTGT	0.557																																																	0													87.0	66.0	73.0					9																	90500620		2202	4299	6501	SO:0001819	synonymous_variant	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.1218C>T	9.37:g.90500620C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	NULL	p.F406	ENST00000325643.5	37	c.1218	CCDS6676.1	9																																																																																			SPATA31E1	-	NULL		0.557	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2	C	NM_178828		90500620	+1	no_errors	ENST00000325643	ensembl	human	known	70_37	silent	SNP	0.009	T
SPEN	23013	genome.wustl.edu	37	1	16257569	16257569	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:16257569G>T	ENST00000375759.3	+	11	5038	c.4834G>T	c.(4834-4836)Gat>Tat	p.D1612Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1612					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAACAGGAAGATACAGAGAA	0.443																																																	0													85.0	94.0	91.0					1																	16257569		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.4834G>T	1.37:g.16257569G>T	ENSP00000364912:p.Asp1612Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.D1612Y	ENST00000375759.3	37	c.4834	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.445309	0.25987	.	.	ENSG00000065526	ENST00000375759	T	0.10192	2.9	4.76	3.84	0.44239	.	.	.	.	.	T	0.09686	0.0238	L	0.27053	0.805	0.09310	N	0.999999	P	0.43169	0.8	B	0.41723	0.365	T	0.15925	-1.0420	9	0.66056	D	0.02	-3.2469	10.2158	0.43168	0.1606:0.0:0.8394:0.0	.	1612	Q96T58	MINT_HUMAN	Y	1612	ENSP00000364912:D1612Y	ENSP00000364912:D1612Y	D	+	1	0	SPEN	16130156	0.935000	0.31712	0.135000	0.22099	0.562000	0.35680	3.009000	0.49552	1.204000	0.43247	0.467000	0.42956	GAT	SPEN	-	NULL		0.443	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257569	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.190	T
SPEN	23013	genome.wustl.edu	37	1	16257893	16257893	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:16257893G>C	ENST00000375759.3	+	11	5362	c.5158G>C	c.(5158-5160)Gag>Cag	p.E1720Q		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	1720					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGCGGGTGTTGAGGAAGGTTC	0.587																																																	0													136.0	146.0	142.0					1																	16257893		2203	4300	6503	SO:0001583	missense	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.5158G>C	1.37:g.16257893G>C	ENSP00000364912:p.Glu1720Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.E1720Q	ENST00000375759.3	37	c.5158	CCDS164.1	1	.	.	.	.	.	.	.	.	.	.	G	8.191	0.795924	0.16327	.	.	ENSG00000065526	ENST00000375759	T	0.09630	2.96	5.16	3.0	0.34707	.	.	.	.	.	T	0.07503	0.0189	N	0.12746	0.255	0.09310	N	0.999997	B	0.12630	0.006	B	0.06405	0.002	T	0.30966	-0.9960	9	0.21540	T	0.41	-5.0853	16.8115	0.85722	0.0:0.3227:0.6773:0.0	.	1720	Q96T58	MINT_HUMAN	Q	1720	ENSP00000364912:E1720Q	ENSP00000364912:E1720Q	E	+	1	0	SPEN	16130480	0.998000	0.40836	0.027000	0.17364	0.030000	0.12068	2.323000	0.43823	1.010000	0.39314	0.467000	0.42956	GAG	SPEN	-	NULL		0.587	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	G	NM_015001		16257893	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	missense	SNP	0.070	C
SPERT	220082	genome.wustl.edu	37	13	46288084	46288084	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:46288084C>T	ENST00000310521.1	+	3	1004	c.924C>T	c.(922-924)ttC>ttT	p.F308F	SPERT_ENST00000378966.3_Silent_p.F272F	NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	308						cytoplasmic membrane-bounded vesicle (GO:0016023)				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CCTCCCGCTTCGAGGAGCCCA	0.731																																																	0													3.0	4.0	4.0					13																	46288084		1820	3524	5344	SO:0001819	synonymous_variant	220082			AK093129	CCDS9399.1, CCDS66540.1	13q14.13	2010-03-23			ENSG00000174015	ENSG00000174015			30720	protein-coding gene	gene with protein product	"""spermatid flower-like structure protein"", ""testis specific leucine zipper protein nurit"", ""chibby homolog 2 (Drosophila)"""					12204287, 20096028	Standard	NM_001286341		Approved	NURIT, CBY2	uc001van.1	Q8NA61	OTTHUMG00000016861	ENST00000310521.1:c.924C>T	13.37:g.46288084C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8I5|Q8NHV2	Silent	SNP	NULL	p.F308	ENST00000310521.1	37	c.924	CCDS9399.1	13																																																																																			SPERT	-	NULL		0.731	SPERT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPERT	HGNC	protein_coding	OTTHUMT00000044786.2	C	NM_152719		46288084	+1	no_errors	ENST00000310521	ensembl	human	known	70_37	silent	SNP	0.044	T
SPG11	80208	genome.wustl.edu	37	15	44855359	44855359	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:44855359G>A	ENST00000261866.7	-	40	7308	c.7292C>T	c.(7291-7293)cCt>cTt	p.P2431L	SPG11_ENST00000535302.2_Missense_Mutation_p.P2318L|SPG11_ENST00000427534.2_3'UTR	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2431					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACCTGTCTGAGGGTCCTTCAG	0.378																																																	0													113.0	104.0	107.0					15																	44855359		2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.7292C>T	15.37:g.44855359G>A	ENSP00000261866:p.Pro2431Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.P2431L	ENST00000261866.7	37	c.7292	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	G	26.7	4.763235	0.89932	.	.	ENSG00000104133	ENST00000261866;ENST00000535302	T;T	0.79454	-1.27;-0.99	5.95	5.95	0.96441	.	0.269276	0.39083	N	0.001469	D	0.86851	0.6032	M	0.65975	2.015	0.80722	D	1	D;D;D	0.67145	0.996;0.962;0.962	P;P;P	0.62089	0.898;0.528;0.528	D	0.86851	0.2023	10	0.72032	D	0.01	.	20.3812	0.98933	0.0:0.0:1.0:0.0	.	2318;2431;2431	F5H3N6;C4B7M4;Q96JI7	.;.;SPTCS_HUMAN	L	2431;2318	ENSP00000261866:P2431L;ENSP00000445278:P2318L	ENSP00000261866:P2431L	P	-	2	0	SPG11	42642651	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.206000	0.89745	2.821000	0.97095	0.650000	0.86243	CCT	SPG11	-	NULL		0.378	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44855359	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	1.000	A
SPG11	80208	genome.wustl.edu	37	15	44881468	44881468	+	Missense_Mutation	SNP	C	C	T	rs368276916		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:44881468C>T	ENST00000261866.7	-	28	4904	c.4888G>A	c.(4888-4890)Gag>Aag	p.E1630K	SPG11_ENST00000535302.2_Missense_Mutation_p.E1630K|SPG11_ENST00000558319.1_Missense_Mutation_p.E1630K|SPG11_ENST00000558253.1_5'UTR|SPG11_ENST00000427534.2_Missense_Mutation_p.E1630K	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	1630					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAGAGATGCTCTCTTTCAACA	0.403																																																	0													78.0	76.0	77.0					15																	44881468		2198	4298	6496	SO:0001583	missense	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.4888G>A	15.37:g.44881468C>T	ENSP00000261866:p.Glu1630Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Missense_Mutation	SNP	NULL	p.E1630K	ENST00000261866.7	37	c.4888	CCDS10112.1	15	.	.	.	.	.	.	.	.	.	.	C	15.50	2.853488	0.51270	.	.	ENSG00000104133	ENST00000261866;ENST00000535302;ENST00000427534	T;T;T	0.78364	-1.17;-0.91;-0.91	5.53	3.59	0.41128	.	0.253954	0.38605	N	0.001632	T	0.76300	0.3968	L	0.56769	1.78	0.80722	D	1	P;P;B	0.43826	0.575;0.818;0.015	B;B;B	0.43082	0.318;0.407;0.013	T	0.76828	-0.2815	10	0.59425	D	0.04	.	14.0887	0.64975	0.0:0.7154:0.2846:0.0	.	1630;1630;1630	C4B7M2;F5H3N6;Q96JI7	.;.;SPTCS_HUMAN	K	1630	ENSP00000261866:E1630K;ENSP00000445278:E1630K;ENSP00000396110:E1630K	ENSP00000261866:E1630K	E	-	1	0	SPG11	42668760	0.744000	0.28250	0.648000	0.29521	0.960000	0.62799	1.411000	0.34702	0.647000	0.30713	0.655000	0.94253	GAG	SPG11	-	NULL		0.403	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	C			44881468	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	missense	SNP	0.934	T
SPG11	80208	genome.wustl.edu	37	15	44941199	44941199	+	Silent	SNP	G	G	C	rs138430209		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:44941199G>C	ENST00000261866.7	-	7	1483	c.1467C>G	c.(1465-1467)ctC>ctG	p.L489L	SPG11_ENST00000535302.2_Silent_p.L489L|SPG11_ENST00000558319.1_Silent_p.L489L|SPG11_ENST00000559193.1_Silent_p.L489L|SPG11_ENST00000427534.2_Silent_p.L489L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	489					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		AAATCAGAGAGAGTCCATTCT	0.323																																																	0													66.0	65.0	65.0					15																	44941199		2198	4298	6496	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.1467C>G	15.37:g.44941199G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	NULL	p.L489	ENST00000261866.7	37	c.1467	CCDS10112.1	15																																																																																			SPG11	-	NULL		0.323	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44941199	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	silent	SNP	0.508	C
SPESP1	246777	genome.wustl.edu	37	15	69238687	69238687	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:69238687G>A	ENST00000310673.3	+	2	968	c.814G>A	c.(814-816)Gaa>Aaa	p.E272K	NOX5_ENST00000455873.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	272					acrosome reaction (GO:0007340)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organismal development (GO:0007275)	acrosomal vesicle (GO:0001669)				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						AGCAGCAGCAGAACATAAATT	0.383																																																	0													58.0	59.0	58.0					15																	69238687		2200	4298	6498	SO:0001583	missense	246777			AF275321	CCDS10230.1	15q22.31	2011-04-15				ENSG00000258484			15570	protein-coding gene	gene with protein product		609399				12773409	Standard	NM_145658		Approved	SP-ESP	uc002arn.2	Q6UW49		ENST00000310673.3:c.814G>A	15.37:g.69238687G>A	ENSP00000312284:p.Glu272Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NG22|Q8WVH8	Missense_Mutation	SNP	NULL	p.E272K	ENST00000310673.3	37	c.814	CCDS10230.1	15	.	.	.	.	.	.	.	.	.	.	G	24.3	4.520179	0.85495	.	.	ENSG00000258484	ENST00000310673	T	0.26067	1.76	5.28	5.28	0.74379	.	0.000000	0.46758	D	0.000277	T	0.41305	0.1153	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	T	0.21518	-1.0243	10	0.87932	D	0	-10.4724	14.7703	0.69671	0.0:0.0:1.0:0.0	.	272	Q6UW49	SPESP_HUMAN	K	272	ENSP00000312284:E272K	ENSP00000312284:E272K	E	+	1	0	SPESP1	67025741	0.979000	0.34478	0.677000	0.29947	0.098000	0.18820	2.352000	0.44080	2.627000	0.88993	0.655000	0.94253	GAA	SPESP1	-	NULL		0.383	SPESP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPESP1	HGNC	protein_coding	OTTHUMT00000257125.1	G	NM_145658		69238687	+1	no_errors	ENST00000310673	ensembl	human	known	70_37	missense	SNP	0.873	A
SPTA1	6708	genome.wustl.edu	37	1	158581038	158581038	+	3'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:158581038C>T	ENST00000368147.4	-	0	7456				SPTA1_ENST00000485680.1_5'UTR	NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1						actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCTACGATCCACGAGGAGCT	0.483																																																	0													62.0	63.0	63.0					1																	158581038		1913	4120	6033	SO:0001624	3_prime_UTR_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.*16G>A	1.37:g.158581038C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	RNA	SNP	-	NULL	ENST00000368147.4	37	NULL	CCDS41423.1	1																																																																																			SPTA1	-	-		0.483	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	C	NM_003126		158581038	-1	no_errors	ENST00000485680	ensembl	human	putative	70_37	rna	SNP	0.000	T
SPTA1	6708	genome.wustl.edu	37	1	158596788	158596788	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:158596788C>T	ENST00000368147.4	-	41	5854	c.5674G>A	c.(5674-5676)Gag>Aag	p.E1892K		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1892					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGACTTTCCTCCTGCAACACC	0.428																																																	0													107.0	106.0	107.0					1																	158596788		1842	4089	5931	SO:0001583	missense	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5674G>A	1.37:g.158596788C>T	ENSP00000357129:p.Glu1892Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E1892K	ENST00000368147.4	37	c.5674	CCDS41423.1	1	.	.	.	.	.	.	.	.	.	.	C	11.97	1.796164	0.31777	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.48836	1.41;0.8	4.87	4.87	0.63330	.	.	.	.	.	T	0.10337	0.0253	N	0.04636	-0.2	0.36518	D	0.870015	B	0.12013	0.005	B	0.15484	0.013	T	0.16837	-1.0389	9	0.15066	T	0.55	.	9.0136	0.36157	0.0:0.9029:0.0:0.0971	.	1892	P02549	SPTA1_HUMAN	K	1892;1889	ENSP00000357130:E1892K;ENSP00000357129:E1889K	ENSP00000357129:E1889K	E	-	1	0	SPTA1	156863412	1.000000	0.71417	0.998000	0.56505	0.596000	0.36781	1.991000	0.40727	2.526000	0.85167	0.563000	0.77884	GAG	SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.428	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	C	NM_003126		158596788	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	missense	SNP	1.000	T
SPTBN1	6711	genome.wustl.edu	37	2	54874325	54874325	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:54874325G>A	ENST00000356805.4	+	24	5205	c.4924G>A	c.(4924-4926)Gag>Aag	p.E1642K	SPTBN1_ENST00000333896.5_Missense_Mutation_p.E1629K	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1642	Interaction with ANK2.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACAAGCTGTGGAGGACTATGC	0.552																																																	0													113.0	103.0	107.0					2																	54874325		2203	4300	6503	SO:0001583	missense	6711				CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.4924G>A	2.37:g.54874325G>A	ENSP00000349259:p.Glu1642Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.E1642K	ENST00000356805.4	37	c.4924	CCDS33198.1	2	.	.	.	.	.	.	.	.	.	.	G	28.2	4.900171	0.92035	.	.	ENSG00000115306	ENST00000356805;ENST00000333896	T;T	0.50813	0.73;0.73	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.59878	0.2226	M	0.68593	2.085	0.58432	D	0.999999	B;P	0.49635	0.25;0.926	B;P	0.49252	0.181;0.604	T	0.62220	-0.6900	10	0.72032	D	0.01	.	20.3334	0.98727	0.0:0.0:1.0:0.0	.	1629;1642	Q01082-3;Q01082	.;SPTB2_HUMAN	K	1642;1629	ENSP00000349259:E1642K;ENSP00000334156:E1629K	ENSP00000334156:E1629K	E	+	1	0	SPTBN1	54727829	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.807000	0.99171	2.818000	0.97014	0.591000	0.81541	GAG	SPTBN1	-	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.552	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN1	HGNC	protein_coding	OTTHUMT00000258115.3	G			54874325	+1	no_errors	ENST00000356805	ensembl	human	known	70_37	missense	SNP	1.000	A
SPTBN5	51332	genome.wustl.edu	37	15	42171994	42171994	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:42171994C>T	ENST00000320955.6	-	15	3107	c.2880G>A	c.(2878-2880)ctG>ctA	p.L960L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	960					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi organization (GO:0007030)|lysosomal transport (GO:0007041)|protein homooligomerization (GO:0051260)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|spectrin (GO:0008091)	actin binding (GO:0003779)|dynactin binding (GO:0034452)|dynein intermediate chain binding (GO:0045505)|kinesin binding (GO:0019894)|myosin tail binding (GO:0032029)|protein self-association (GO:0043621)|spectrin binding (GO:0030507)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATCTCTGCCTCAGTTGCTCAG	0.587																																																	0													89.0	88.0	88.0					15																	42171994		2062	4202	6264	SO:0001819	synonymous_variant	51332			AF233523	CCDS61599.1	15q21	2010-08-17			ENSG00000137877	ENSG00000137877			15680	protein-coding gene	gene with protein product	"""beta V spectrin"""	605916				10764729	Standard	NM_016642		Approved	HUSPECV, BSPECV, HUBSPECV	uc001zos.4	Q9NRC6		ENST00000320955.6:c.2880G>A	15.37:g.42171994C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.L960	ENST00000320955.6	37	c.2880		15																																																																																			SPTBN5	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.587	SPTBN5-001	KNOWN	basic|appris_principal	protein_coding	SPTBN5	HGNC	protein_coding	OTTHUMT00000420237.1	C	NM_016642		42171994	-1	no_errors	ENST00000320955	ensembl	human	known	70_37	silent	SNP	0.998	T
SRP72	6731	genome.wustl.edu	37	4	57344554	57344554	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:57344554G>A	ENST00000342756.5	+	7	1373	c.652G>A	c.(652-654)Gag>Aag	p.E218K	SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	218					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GGATGGGACTGAGGAAGACCC	0.403																																																	0													53.0	52.0	52.0					4																	57344554		2203	4300	6503	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.652G>A	4.37:g.57344554G>A	ENSP00000342181:p.Glu218Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E218K	ENST00000342756.5	37	c.652	CCDS3506.1	4	.	.	.	.	.	.	.	.	.	.	G	33	5.203659	0.95033	.	.	ENSG00000174780	ENST00000342756;ENST00000505314	T	0.76578	-1.03	5.09	5.09	0.68999	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	D	0.89174	0.6640	M	0.87547	2.89	0.80722	D	1	D;D	0.89917	0.977;1.0	D;D	0.87578	0.98;0.998	D	0.89892	0.4038	10	0.46703	T	0.11	.	16.0235	0.80516	0.0:0.0:1.0:0.0	.	218;218	Q86X80;O76094	.;SRP72_HUMAN	K	218;23	ENSP00000342181:E218K	ENSP00000342181:E218K	E	+	1	0	SRP72	57039311	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.830000	0.99415	2.360000	0.80028	0.650000	0.86243	GAG	SRP72	-	NULL		0.403	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7	G			57344554	+1	no_errors	ENST00000342756	ensembl	human	known	70_37	missense	SNP	1.000	A
SRP72	6731	genome.wustl.edu	37	4	57354143	57354143	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:57354143G>C	ENST00000342756.5	+	12	1909	c.1188G>C	c.(1186-1188)ttG>ttC	p.L396F	SRP72_ENST00000510663.1_Missense_Mutation_p.L335F	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	396					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|response to drug (GO:0042493)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|signal recognition particle, endoplasmic reticulum targeting (GO:0005786)	7S RNA binding (GO:0008312)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					GTCTAATATTGAGAAGCATAG	0.259																																																	0													55.0	57.0	57.0					4																	57354143		2196	4290	6486	SO:0001583	missense	6731			AF069765	CCDS3506.1, CCDS58898.1	4q11	2013-01-10	2002-08-29		ENSG00000174780	ENSG00000174780		"""Tetratricopeptide (TTC) repeat domain containing"""	11303	protein-coding gene	gene with protein product		602122	"""signal recognition particle 72kD"""			9224693, 9857079	Standard	NM_006947		Approved		uc003hbv.3	O76094	OTTHUMG00000128843	ENST00000342756.5:c.1188G>C	4.37:g.57354143G>C	ENSP00000342181:p.Leu396Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	G5E9Z8|Q7Z3C0	Missense_Mutation	SNP	pfam_Signal_recog_part_SRP72_RNA-bd,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L396F	ENST00000342756.5	37	c.1188	CCDS3506.1	4	.	.	.	.	.	.	.	.	.	.	G	15.93	2.976798	0.53720	.	.	ENSG00000174780	ENST00000342756;ENST00000537129;ENST00000510663;ENST00000505314	T;T	0.37411	1.2;1.2	4.91	3.17	0.36434	Tetratricopeptide-like helical (1);	0.000000	0.85682	D	0.000000	T	0.59390	0.2190	M	0.86740	2.835	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.77004	0.989;0.986;0.976	T	0.57539	-0.7794	10	0.49607	T	0.09	.	7.6065	0.28105	0.1652:0.1382:0.6966:0.0	.	335;396;396	G5E9Z8;Q86X80;O76094	.;.;SRP72_HUMAN	F	396;341;335;157	ENSP00000342181:L396F;ENSP00000424576:L335F	ENSP00000342181:L396F	L	+	3	2	SRP72	57048900	1.000000	0.71417	0.998000	0.56505	0.961000	0.63080	3.554000	0.53720	0.366000	0.24427	-0.813000	0.03139	TTG	SRP72	-	NULL		0.259	SRP72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRP72	HGNC	protein_coding	OTTHUMT00000250782.7	G			57354143	+1	no_errors	ENST00000342756	ensembl	human	known	70_37	missense	SNP	1.000	C
SRPK3	26576	genome.wustl.edu	37	X	153049643	153049643	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:153049643G>C	ENST00000370101.3	+	10	1168	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	SRPK3_ENST00000370104.1_Missense_Mutation_p.E373D|SRPK3_ENST00000489426.1_Missense_Mutation_p.E441D|SRPK3_ENST00000370108.3_Missense_Mutation_p.E341D|IDH3G_ENST00000497043.1_5'Flank|SRPK3_ENST00000370100.1_Missense_Mutation_p.E299D|SRPK3_ENST00000393786.3_Missense_Mutation_p.E340D	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	374	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|muscle tissue development (GO:0060537)|skeletal muscle tissue development (GO:0007519)		ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCAGCGAGAGACCGGGGGCC	0.647																																					Esophageal Squamous(167;766 3400 32156)												0													40.0	39.0	39.0					X																	153049643		2202	4300	6502	SO:0001583	missense	26576			AF027406	CCDS35441.1, CCDS55537.1, CCDS55538.1	Xq28	2010-06-23	2010-06-23	2006-08-17	ENSG00000184343	ENSG00000184343			11402	protein-coding gene	gene with protein product			"""serine/threonine kinase 23"", ""SFRS protein kinase 3"""	STK23		16140986	Standard	NM_014370		Approved	MSSK1	uc004fil.3	Q9UPE1	OTTHUMG00000024207	ENST00000370101.3:c.1122G>C	X.37:g.153049643G>C	ENSP00000359119:p.Glu374Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13583|Q4F970|Q562F5|Q9UM62	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E374D	ENST00000370101.3	37	c.1122	CCDS35441.1	X	.	.	.	.	.	.	.	.	.	.	G	6.593	0.477860	0.12521	.	.	ENSG00000184343	ENST00000489426;ENST00000393786;ENST00000370104;ENST00000370108;ENST00000370101;ENST00000370100	T;T;T;T;T;T	0.56103	0.53;0.51;0.54;0.52;0.54;0.48	4.72	2.96	0.34315	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.117949	0.36932	N	0.002328	T	0.30479	0.0766	N	0.16066	0.365	0.09310	N	1	B;B;B;B;B	0.12630	0.001;0.001;0.001;0.0;0.006	B;B;B;B;B	0.08055	0.002;0.002;0.002;0.001;0.003	T	0.15954	-1.0419	10	0.16896	T	0.51	-33.9217	9.4176	0.38530	0.1824:0.0:0.8176:0.0	.	298;373;340;374;441	Q9UPE1-2;Q9UPE1-4;Q9UPE1-3;Q9UPE1;E7ETV6	.;.;.;SRPK3_HUMAN;.	D	441;340;373;341;374;299	ENSP00000420058:E441D;ENSP00000377376:E340D;ENSP00000359122:E373D;ENSP00000359126:E341D;ENSP00000359119:E374D;ENSP00000359118:E299D	ENSP00000359118:E299D	E	+	3	2	SRPK3	152702837	0.943000	0.32029	0.033000	0.17914	0.338000	0.28826	1.351000	0.34022	0.445000	0.26639	0.529000	0.55759	GAG	SRPK3	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.647	SRPK3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	SRPK3	HGNC	protein_coding	OTTHUMT00000354501.1	G	NM_014370		153049643	+1	no_errors	ENST00000370101	ensembl	human	known	70_37	missense	SNP	0.229	C
SRRM2	23524	genome.wustl.edu	37	16	2812793	2812793	+	Missense_Mutation	SNP	C	C	A	rs200852292		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2812793C>A	ENST00000301740.8	+	11	2813	c.2264C>A	c.(2263-2265)tCt>tAt	p.S755Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	755	Arg-rich.|Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTCGCATTTCTTCAAGGCGG	0.483																																																	0													107.0	111.0	110.0					16																	2812793		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2264C>A	16.37:g.2812793C>A	ENSP00000301740:p.Ser755Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S755Y	ENST00000301740.8	37	c.2264	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	11.80	1.747678	0.30955	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.28454	1.61	5.27	5.27	0.74061	.	0.100430	0.45126	D	0.000394	T	0.43787	0.1263	L	0.27053	0.805	0.39946	D	0.974477	D	0.71674	0.998	D	0.80764	0.994	T	0.46735	-0.9170	10	0.72032	D	0.01	-10.4184	16.3748	0.83382	0.0:1.0:0.0:0.0	.	755	Q9UQ35	SRRM2_HUMAN	Y	755;755;7;720	ENSP00000301740:S755Y	ENSP00000301740:S755Y	S	+	2	0	SRRM2	2752794	0.114000	0.22134	0.997000	0.53966	0.874000	0.50279	3.238000	0.51352	2.455000	0.83008	0.563000	0.77884	TCT	SRRM2	-	NULL		0.483	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2812793	+1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.998	A
SRRM2	23524	genome.wustl.edu	37	16	2813042	2813042	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2813042C>T	ENST00000301740.8	+	11	3062	c.2513C>T	c.(2512-2514)tCa>tTa	p.S838L		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	838	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CATTCCAGTTCATCTCCTCAT	0.493																																																	0													191.0	189.0	190.0					16																	2813042		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2513C>T	16.37:g.2813042C>T	ENSP00000301740:p.Ser838Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.S838L	ENST00000301740.8	37	c.2513	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	3.815	-0.038977	0.07497	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.26067	1.76	5.12	-3.07	0.05363	.	0.766695	0.11512	N	0.556613	T	0.13841	0.0335	N	0.24115	0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.17715	-1.0360	10	0.45353	T	0.12	9.1792	6.4224	0.21750	0.0:0.4265:0.1216:0.4519	.	838	Q9UQ35	SRRM2_HUMAN	L	838;838;90;803	ENSP00000301740:S838L	ENSP00000301740:S838L	S	+	2	0	SRRM2	2753043	0.053000	0.20554	0.024000	0.17045	0.712000	0.41017	0.049000	0.14099	-0.975000	0.03546	-0.140000	0.14226	TCA	SRRM2	-	NULL		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2813042	+1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.042	T
SRRM2	23524	genome.wustl.edu	37	16	2813050	2813050	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:2813050C>T	ENST00000301740.8	+	11	3070	c.2521C>T	c.(2521-2523)Cat>Tat	p.H841Y		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	841	Ser-rich.				mRNA splicing, via spliceosome (GO:0000398)	Cajal body (GO:0015030)|catalytic step 2 spliceosome (GO:0071013)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	C2H2 zinc finger domain binding (GO:0070742)|poly(A) RNA binding (GO:0044822)|protein N-terminus binding (GO:0047485)	p.H841Y(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TTCATCTCCTCATCCTAAAGT	0.493																																																	1	Substitution - Missense(1)	lung(1)											181.0	178.0	179.0					16																	2813050		2198	4300	6498	SO:0001583	missense	23524			AF201422	CCDS32373.1	16p13.3	2012-07-02			ENSG00000167978	ENSG00000167978			16639	protein-coding gene	gene with protein product		606032				10668804, 11004489	Standard	NM_016333		Approved	SRm300, SRL300, KIAA0324, Cwc21	uc002crk.3	Q9UQ35	OTTHUMG00000177358	ENST00000301740.8:c.2521C>T	16.37:g.2813050C>T	ENSP00000301740:p.His841Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB9|D3DU97|O15038|O94803|Q6NSL3|Q6PIM3|Q6PK40|Q8IW17|Q96GY7|Q9P0G1|Q9UHA8|Q9UQ36|Q9UQ37|Q9UQ38|Q9UQ40	Missense_Mutation	SNP	pfam_mRNA_splic_Cwf21	p.H841Y	ENST00000301740.8	37	c.2521	CCDS32373.1	16	.	.	.	.	.	.	.	.	.	.	C	2.717	-0.267506	0.05754	.	.	ENSG00000167978	ENST00000301740;ENST00000382301;ENST00000544933;ENST00000426305	T	0.23147	1.92	5.49	2.25	0.28309	.	0.815187	0.10997	N	0.610902	T	0.09905	0.0243	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.34601	-0.9822	10	0.14252	T	0.57	0.1144	2.1923	0.03902	0.1563:0.5184:0.1516:0.1737	.	841	Q9UQ35	SRRM2_HUMAN	Y	841;841;93;806	ENSP00000301740:H841Y	ENSP00000301740:H841Y	H	+	1	0	SRRM2	2753051	0.381000	0.25140	0.981000	0.43875	0.629000	0.37895	0.450000	0.21762	1.333000	0.45449	0.655000	0.94253	CAT	SRRM2	-	NULL		0.493	SRRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRRM2	HGNC	protein_coding	OTTHUMT00000436411.1	C			2813050	+1	no_errors	ENST00000301740	ensembl	human	known	70_37	missense	SNP	0.282	T
SRRT	51593	genome.wustl.edu	37	7	100485023	100485023	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:100485023G>A	ENST00000347433.4	+	16	2216	c.2058G>A	c.(2056-2058)caG>caA	p.Q686Q	SRRT_ENST00000457580.2_Silent_p.Q686Q|SRRT_ENST00000388793.4_Silent_p.Q685Q|SRRT_ENST00000432932.1_Silent_p.Q685Q			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	686					cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGAGGCCCAGAAGATGGGGC	0.562																																																	0													106.0	104.0	105.0					7																	100485023		2203	4300	6503	SO:0001819	synonymous_variant	51593				CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.2058G>A	7.37:g.100485023G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	Silent	SNP	pfam_Arsenite-R_2,pfam_DUF3546	p.Q685	ENST00000347433.4	37	c.2055	CCDS34709.1	7																																																																																			SRRT	-	pfam_Arsenite-R_2		0.562	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	SRRT	HGNC	protein_coding	OTTHUMT00000347168.1	G	NM_015908		100485023	+1	no_errors	ENST00000388793	ensembl	human	known	70_37	silent	SNP	1.000	A
SRSF2	6427	genome.wustl.edu	37	17	74733038	74733038	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:74733038C>T	ENST00000392485.2	-	1	377	c.205G>A	c.(205-207)Gag>Aag	p.E69K	MFSD11_ENST00000590393.1_5'Flank|MFSD11_ENST00000588460.1_5'UTR|MFSD11_ENST00000586622.1_5'UTR|MFSD11_ENST00000591864.1_5'UTR|MFSD11_ENST00000355954.3_5'Flank|MFSD11_ENST00000590514.1_5'Flank|MIR636_ENST00000384825.1_RNA|MFSD11_ENST00000336509.4_5'Flank|SRSF2_ENST00000508921.3_Missense_Mutation_p.E69K|SRSF2_ENST00000359995.5_Missense_Mutation_p.E69K|MFSD11_ENST00000593181.1_5'Flank|RP11-318A15.7_ENST00000587459.1_Intron	NM_003016.4	NP_003007.2	Q01130	SRSF2_HUMAN	serine/arginine-rich splicing factor 2	69	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|regulation of RNA biosynthetic process (GO:2001141)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|transcription corepressor activity (GO:0003714)			haematopoietic_and_lymphoid_tissue(320)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)	329						ATAGCGTCCTCAGCGTCGCGC	0.692			Mis		"""MDS, CLL"""																																			Dom	yes		17	17q25	6427	serine/arginine-rich splicing factor 2		L	0													31.0	36.0	34.0					17																	74733038		2201	4297	6498	SO:0001583	missense	6427			M90104	CCDS11749.1	17q25.2	2014-09-17	2010-06-22	2010-06-22	ENSG00000161547	ENSG00000161547		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10783	protein-coding gene	gene with protein product	"""SR splicing factor 2"""	600813	"""splicing factor, arginine/serine-rich 2"""	SFRS2		8530103, 20516191	Standard	NM_003016		Approved	SC-35, SC35, PR264, SFRS2A	uc002jsv.3	Q01130		ENST00000392485.2:c.205G>A	17.37:g.74733038C>T	ENSP00000376276:p.Glu69Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWD5|B4DN89|H0YG49	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom	p.E69K	ENST00000392485.2	37	c.205	CCDS11749.1	17	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461297	0.63513	.	.	ENSG00000161547	ENST00000452355;ENST00000392485;ENST00000508921;ENST00000358156;ENST00000359995	T;T;T	0.17528	2.27;2.27;2.27	4.72	3.74	0.42951	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.060490	0.64402	N	0.000006	T	0.28101	0.0693	L	0.49126	1.545	0.80722	D	1	P;P	0.40578	0.722;0.722	P;P	0.52424	0.698;0.698	T	0.01323	-1.1385	10	0.46703	T	0.11	.	12.2381	0.54526	0.0:0.9148:0.0:0.0852	.	69;69	B4DN89;Q01130	.;SRSF2_HUMAN	K	69;69;96;57;69	ENSP00000391278:E69K;ENSP00000376276:E69K;ENSP00000353089:E69K	ENSP00000350877:E57K	E	-	1	0	SRSF2	72244633	1.000000	0.71417	0.972000	0.41901	0.668000	0.39293	7.319000	0.79040	0.974000	0.38366	0.462000	0.41574	GAG	SRSF2	-	pfam_RRM_dom,smart_RRM_dom_euk,smart_RRM_dom,pfscan_RRM_dom		0.692	SRSF2-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	SRSF2	HGNC	protein_coding	OTTHUMT00000437489.1	C	NM_003016		74733038	-1	no_errors	ENST00000359995	ensembl	human	known	70_37	missense	SNP	1.000	T
SRSF6	6431	genome.wustl.edu	37	20	42086761	42086761	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:42086761G>A	ENST00000244020.3	+	1	194	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K		NM_006275.5	NP_006266.2	Q13247	SRSF6_HUMAN	serine/arginine-rich splicing factor 6	30	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.				alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|negative regulation of cell death (GO:0060548)|negative regulation of keratinocyte differentiation (GO:0045617)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of keratinocyte proliferation (GO:0010837)|regulation of wound healing (GO:0061041)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA binding (GO:0036002)|RNA binding (GO:0003723)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|upper_aerodigestive_tract(2)	5						CCGCCTCCTCGAAGTAGACCT	0.647																																																	0													36.0	39.0	38.0					20																	42086761		2203	4299	6502	SO:0001583	missense	6431			U30883	CCDS13318.1	20q12-q13.1	2013-02-12	2010-06-22	2010-06-22	ENSG00000124193	ENSG00000124193		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10788	protein-coding gene	gene with protein product	"""pre-mRNA splicing factor SRP55"", ""SR splicing factor 6"""	601944	"""splicing factor, arginine/serine-rich 6"""	SFRS6		7556075, 20516191	Standard	NM_006275		Approved	SRP55, B52	uc010zwg.2	Q13247	OTTHUMG00000032502	ENST00000244020.3:c.88G>A	20.37:g.42086761G>A	ENSP00000244020:p.Glu30Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6J3|E1P5W6|Q13244|Q13245|Q96J06|Q9UJB8|Q9Y3N7	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.E30K	ENST00000244020.3	37	c.88	CCDS13318.1	20	.	.	.	.	.	.	.	.	.	.	g	27.5	4.840677	0.91197	.	.	ENSG00000124193	ENST00000244020	T	0.74421	-0.84	3.81	2.84	0.33178	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.74160	0.3680	L	0.37697	1.125	0.58432	D	0.999991	D;P	0.60575	0.988;0.949	P;P	0.55713	0.782;0.49	T	0.75725	-0.3217	10	0.72032	D	0.01	.	12.1034	0.53798	0.0:0.1757:0.8243:0.0	.	30;30	Q13247;A8K588	SRSF6_HUMAN;.	K	30	ENSP00000244020:E30K	ENSP00000244020:E30K	E	+	1	0	SRSF6	41520175	1.000000	0.71417	0.996000	0.52242	0.964000	0.63967	5.838000	0.69388	0.764000	0.33197	-0.180000	0.13094	GAA	SRSF6	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom		0.647	SRSF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SRSF6	HGNC	protein_coding	OTTHUMT00000079292.1	G	NM_006275		42086761	+1	no_errors	ENST00000244020	ensembl	human	known	70_37	missense	SNP	1.000	A
SSFA2	6744	genome.wustl.edu	37	2	182780221	182780221	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:182780221C>G	ENST00000431877.2	+	11	2033	c.1854C>G	c.(1852-1854)atC>atG	p.I618M	SSFA2_ENST00000409136.1_Missense_Mutation_p.I127M|SSFA2_ENST00000409001.1_Missense_Mutation_p.I618M|SSFA2_ENST00000320370.7_Missense_Mutation_p.I618M|SSFA2_ENST00000428267.2_Missense_Mutation_p.I465M	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	618						cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GGGATCATATCATTGAAATTA	0.433																																																	0													80.0	71.0	74.0					2																	182780221		2203	4300	6503	SO:0001583	missense	6744			M61199	CCDS2284.1, CCDS46467.1, CCDS74611.1	2q32.1	2012-02-01			ENSG00000138434	ENSG00000138434			11319	protein-coding gene	gene with protein product	"""cleavage signal-1 protein"", ""KRAS-induced actin-interacting protein"", ""sperm associated antigen 13"""	118990				1555770	Standard	XM_005246812		Approved	CS-1, SPAG13, KRAP, KIAA1927	uc002uoh.3	P28290	OTTHUMG00000132584	ENST00000431877.2:c.1854C>G	2.37:g.182780221C>G	ENSP00000388731:p.Ile618Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6T0|Q68DA6|Q7Z7L2|Q8N1L3|Q8N263|Q8N7H2|Q8NEN5|Q96E36|Q96PW1	Missense_Mutation	SNP	NULL	p.I618M	ENST00000431877.2	37	c.1854	CCDS46467.1	2	.	.	.	.	.	.	.	.	.	.	C	0.890	-0.725924	0.03158	.	.	ENSG00000138434	ENST00000431877;ENST00000320370;ENST00000409001;ENST00000428267;ENST00000409136	T;T;T;T;T	0.14640	2.72;2.49;2.72;2.72;2.49	5.71	-1.18	0.09617	.	2.006720	0.02014	N	0.047261	T	0.13543	0.0328	L	0.40543	1.245	0.09310	N	1	B;B;B;B;B	0.11235	0.004;0.001;0.001;0.001;0.001	B;B;B;B;B	0.08055	0.003;0.002;0.002;0.002;0.002	T	0.34229	-0.9837	10	0.42905	T	0.14	2.2928	8.4784	0.33027	0.0:0.21:0.5037:0.2863	.	465;127;618;618;618	E7END2;E7EUL7;E9PHV5;P28290;P28290-3	.;.;.;SSFA2_HUMAN;.	M	618;618;618;465;127	ENSP00000388731:I618M;ENSP00000314669:I618M;ENSP00000387319:I618M;ENSP00000409867:I465M;ENSP00000386916:I127M	ENSP00000314669:I618M	I	+	3	3	SSFA2	182488466	0.000000	0.05858	0.000000	0.03702	0.036000	0.12997	-0.442000	0.06871	-0.450000	0.07107	-0.417000	0.06048	ATC	SSFA2	-	NULL		0.433	SSFA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SSFA2	HGNC	protein_coding	OTTHUMT00000255793.2	C	NM_006751		182780221	+1	no_errors	ENST00000431877	ensembl	human	known	70_37	missense	SNP	0.000	G
SSR2	6746	genome.wustl.edu	37	1	155988069	155988069	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155988069C>T	ENST00000295702.4	-	3	317	c.246G>A	c.(244-246)cgG>cgA	p.R82R	SSR2_ENST00000496742.1_Intron|SSR2_ENST00000480567.1_Silent_p.R82R|SSR2_ENST00000529008.1_Silent_p.R82R	NM_003145.3	NP_003136.1	P43308	SSRB_HUMAN	signal sequence receptor, beta (translocon-associated protein beta)	82					cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					ACGGGGCAATCCGGTCCCATT	0.507																																																	0													95.0	85.0	88.0					1																	155988069		2203	4300	6503	SO:0001819	synonymous_variant	6746			BC000341	CCDS1126.1	1q21-q23	2008-02-05			ENSG00000163479	ENSG00000163479			11324	protein-coding gene	gene with protein product		600867				7789174	Standard	NM_003145		Approved	TLAP, TRAPB	uc001fmx.3	P43308	OTTHUMG00000017456	ENST00000295702.4:c.246G>A	1.37:g.155988069C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9K9|D3DVA7|Q53HI0|Q5VY95|Q5VY96|Q6IB31|Q9BWE4	Silent	SNP	pfam_TRAP_beta,pirsf_TRAP_beta	p.R82	ENST00000295702.4	37	c.246	CCDS1126.1	1																																																																																			SSR2	-	pfam_TRAP_beta,pirsf_TRAP_beta		0.507	SSR2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SSR2	HGNC	protein_coding	OTTHUMT00000046172.2	C	NM_003145		155988069	-1	no_errors	ENST00000295702	ensembl	human	known	70_37	silent	SNP	0.960	T
ST6GALNAC4	27090	genome.wustl.edu	37	9	130678616	130678616	+	Intron	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:130678616G>T	ENST00000335791.5	-	2	288				ST6GALNAC4_ENST00000343609.2_Intron|ST6GALNAC4_ENST00000495983.1_5'Flank	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4						cellular protein metabolic process (GO:0044267)|glycolipid metabolic process (GO:0006664)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity (GO:0047290)|sialyltransferase activity (GO:0008373)			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						TCCTGGGGTGGAGAGGCTGCT	0.617																																																	0													25.0	29.0	28.0					9																	130678616		692	1591	2283	SO:0001627	intron_variant	27090			AB035172	CCDS6883.1	9q34	2013-03-01	2005-02-07	2005-02-07	ENSG00000136840	ENSG00000136840	2.4.99.7	"""Sialyltransferases"""	17846	protein-coding gene	gene with protein product		606378	"""sialyltransferase 7D ((alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl galactosaminide alpha-2,6-sialyltransferase)"""	SIAT7D		10207017, 11062056	Standard	XM_005251922		Approved	ST6GALNACIV, SIAT3C	uc004bss.3	Q9H4F1	OTTHUMG00000020724	ENST00000335791.5:c.12+70C>A	9.37:g.130678616G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T9D0|Q9NWU6|Q9UKU1|Q9ULB9|Q9Y3G3|Q9Y3G4	RNA	SNP	-	NULL	ENST00000335791.5	37	NULL	CCDS6883.1	9																																																																																			ST6GALNAC4	-	-		0.617	ST6GALNAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST6GALNAC4	HGNC	protein_coding	OTTHUMT00000054317.2	G	NM_175040		130678616	-1	no_errors	ENST00000479747	ensembl	human	known	70_37	rna	SNP	0.003	T
STAG3L4	64940	genome.wustl.edu	37	7	66774620	66774620	+	RNA	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:66774620G>A	ENST00000416602.2	+	0	637					NR_040586.1		Q8TBR4	ST3L4_HUMAN	stromal antigen 3-like 4 (pseudogene)											endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				ATCAATCAGCGTCAGTATGAG	0.498																																																	0													122.0	133.0	129.0					7																	66774620		2203	4300	6503			64940					7q11.21	2013-06-26	2013-06-26		ENSG00000106610	ENSG00000106610			33887	pseudogene	pseudogene			"""stromal antigen 3-like 4"""				Standard	NR_040585		Approved	FLJ13195, STAG3L4P	uc010laj.3	Q8TBR4	OTTHUMG00000156920		7.37:g.66774620G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H8W0	RNA	SNP	-	NULL	ENST00000416602.2	37	NULL		7	.	.	.	.	.	.	.	.	.	.	g	3.754	-0.050945	0.07407	.	.	ENSG00000106610	ENST00000416602;ENST00000437742	.	.	.	0.524	-1.05	0.10036	STAG (1);	0.222747	0.32287	N	0.006314	T	0.27027	0.0662	.	.	.	.	.	.	B	0.33238	0.403	B	0.31245	0.126	T	0.10314	-1.0635	7	0.59425	D	0.04	.	5.3142	0.15847	0.2662:0.0:0.7338:0.0	.	121	Q8TBR4	STG34_HUMAN	H	121	.	ENSP00000408597:R121H	R	+	2	0	STAG3L4	66412055	1.000000	0.71417	0.582000	0.28627	0.035000	0.12851	4.574000	0.60900	-0.981000	0.03520	-1.368000	0.01194	CGT	STAG3L4	-	-		0.498	STAG3L4-001	KNOWN	basic	processed_transcript	STAG3L4	HGNC	pseudogene	OTTHUMT00000346611.1	G	NM_022906		66774620	+1	no_errors	ENST00000416602	ensembl	human	known	70_37	rna	SNP	1.000	A
STAG3	10734	genome.wustl.edu	37	7	99780363	99780363	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:99780363G>C	ENST00000426455.1	+	4	644	c.237G>C	c.(235-237)aaG>aaC	p.K79N	STAG3_ENST00000394018.2_Missense_Mutation_p.K79N|STAG3_ENST00000317296.5_Missense_Mutation_p.K79N	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	79					chromosome segregation (GO:0007059)|synaptonemal complex assembly (GO:0007130)	chromosome, centromeric region (GO:0000775)|extracellular space (GO:0005615)|lateral element (GO:0000800)|male germ cell nucleus (GO:0001673)|meiotic cohesin complex (GO:0030893)|nuclear meiotic cohesin complex (GO:0034991)|nucleolus (GO:0005730)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)|transverse filament (GO:0000802)				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACATCCAAAGAAAGGGTCCC	0.398																																																	0													151.0	158.0	156.0					7																	99780363		2203	4300	6503	SO:0001583	missense	10734			AJ007798	CCDS34703.1, CCDS64730.1, CCDS75642.1	7q22	2008-02-01			ENSG00000066923	ENSG00000066923			11356	protein-coding gene	gene with protein product		608489				10698974	Standard	XM_005250116		Approved		uc003utx.1	Q9UJ98	OTTHUMG00000155183	ENST00000426455.1:c.237G>C	7.37:g.99780363G>C	ENSP00000400359:p.Lys79Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8Z1|B4DZ10|D6W5U8|H7BYK9|Q8NDP3	Missense_Mutation	SNP	pfam_STAG,superfamily_ARM-type_fold	p.K79N	ENST00000426455.1	37	c.237	CCDS34703.1	7	.	.	.	.	.	.	.	.	.	.	G	12.70	2.016771	0.35606	.	.	ENSG00000066923	ENST00000426455;ENST00000394018;ENST00000416412;ENST00000339784;ENST00000317296;ENST00000422690;ENST00000439782	T;T;T	0.31510	1.8;1.49;1.8	5.32	4.45	0.53987	.	0.294479	0.24379	N	0.039025	T	0.30262	0.0759	M	0.66939	2.045	0.33916	D	0.640223	P;B	0.44877	0.845;0.025	B;B	0.39660	0.306;0.011	T	0.48758	-0.9007	10	0.33141	T	0.24	-22.079	9.7632	0.40545	0.0923:0.0:0.9077:0.0	.	79;79	B4DZ10;Q9UJ98	.;STAG3_HUMAN	N	79	ENSP00000400359:K79N;ENSP00000377586:K79N;ENSP00000319318:K79N	ENSP00000319318:K79N	K	+	3	2	STAG3	99618299	1.000000	0.71417	1.000000	0.80357	0.712000	0.41017	2.686000	0.46968	1.491000	0.48482	-0.237000	0.12165	AAG	STAG3	-	NULL		0.398	STAG3-004	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	STAG3	HGNC	protein_coding	OTTHUMT00000338734.2	G	NM_012447		99780363	+1	no_errors	ENST00000317296	ensembl	human	known	70_37	missense	SNP	1.000	C
STAT2	6773	genome.wustl.edu	37	12	56737674	56737674	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56737674G>A	ENST00000314128.4	-	23	2371	c.2348C>T	c.(2347-2349)tCa>tTa	p.S783L	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.S779L			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	783					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CACTGGCTGTGATACAGGTCC	0.507																																																	0													209.0	181.0	190.0					12																	56737674		2203	4300	6503	SO:0001583	missense	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.2348C>T	12.37:g.56737674G>A	ENSP00000315768:p.Ser783Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Missense_Mutation	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.S783L	ENST00000314128.4	37	c.2348	CCDS8917.1	12	.	.	.	.	.	.	.	.	.	.	G	12.93	2.084180	0.36758	.	.	ENSG00000170581	ENST00000314128;ENST00000557235	T;T	0.46819	0.86;0.86	4.1	-1.21	0.09524	Signal transducer and activation of transcription 2, C-terminal (1);	2.704500	0.01178	N	0.007033	T	0.26629	0.0651	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.002;0.003	B;B	0.08055	0.002;0.003	T	0.12016	-1.0564	10	0.34782	T	0.22	4.7987	4.1218	0.10109	0.456:0.3792:0.1648:0.0	.	779;783	G3V2M6;P52630	.;STAT2_HUMAN	L	783;779	ENSP00000315768:S783L;ENSP00000450751:S779L	ENSP00000315768:S783L	S	-	2	0	STAT2	55023941	0.000000	0.05858	0.000000	0.03702	0.559000	0.35586	0.407000	0.21049	-0.177000	0.10690	0.561000	0.74099	TCA	STAT2	-	pfam_STAT2_C		0.507	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	G	NM_005419		56737674	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	missense	SNP	0.000	A
STK38L	23012	genome.wustl.edu	37	12	27467972	27467972	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:27467972G>C	ENST00000389032.3	+	8	866	c.697G>C	c.(697-699)Ggt>Cgt	p.G233R	STK38L_ENST00000539577.1_Missense_Mutation_p.G140R	NM_015000.3	NP_055815.1			serine/threonine kinase 38 like											breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ATCTGATTTTGGTTTATGTAC	0.303																																																	0													76.0	79.0	78.0					12																	27467972		2203	4300	6503	SO:0001583	missense	23012			AB023182	CCDS31761.1	12p11.23	2014-04-23			ENSG00000211455	ENSG00000211455			17848	protein-coding gene	gene with protein product	"""nuclear Dbf2-related 2"""	615836				16488889	Standard	NM_015000		Approved	KIAA0965, NDR2	uc001rhr.3	Q9Y2H1	OTTHUMG00000169284	ENST00000389032.3:c.697G>C	12.37:g.27467972G>C	ENSP00000373684:p.Gly233Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.G233R	ENST00000389032.3	37	c.697	CCDS31761.1	12	.	.	.	.	.	.	.	.	.	.	G	28.8	4.954761	0.92726	.	.	ENSG00000211455	ENST00000389032;ENST00000545470;ENST00000539577	T;T;T	0.80123	0.09;-1.34;-1.34	4.32	4.32	0.51571	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.054509	0.64402	D	0.000001	D	0.92612	0.7653	H	0.96239	3.79	0.80722	D	1	D;D	0.56287	0.975;0.975	D;D	0.66497	0.923;0.944	D	0.95072	0.8205	10	0.87932	D	0	.	17.3732	0.87384	0.0:0.0:1.0:0.0	.	140;233	B4E3J8;Q9Y2H1	.;ST38L_HUMAN	R	233;192;140	ENSP00000373684:G233R;ENSP00000439457:G192R;ENSP00000446386:G140R	ENSP00000373684:G233R	G	+	1	0	STK38L	27359239	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.548000	0.98103	2.409000	0.81822	0.655000	0.94253	GGT	STK38L	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.303	STK38L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STK38L	HGNC	protein_coding	OTTHUMT00000403297.1	G	NM_015000		27467972	+1	no_errors	ENST00000389032	ensembl	human	known	70_37	missense	SNP	1.000	C
STAT2	6773	genome.wustl.edu	37	12	56740733	56740733	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:56740733G>A	ENST00000314128.4	-	20	1754	c.1731C>T	c.(1729-1731)atC>atT	p.I577I	STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Silent_p.I573I			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	577	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						CAAAGCCCATGATGCGTCTGG	0.602																																																	0													67.0	58.0	61.0					12																	56740733		2203	4300	6503	SO:0001819	synonymous_variant	6773			BC051284	CCDS8917.1, CCDS55836.1	12q13.2	2013-02-14	2002-08-29			ENSG00000170581		"""SH2 domain containing"""	11363	protein-coding gene	gene with protein product		600556	"""signal transducer and activator of transcription 2, 113kD"""			7885841	Standard	NM_005419		Approved	STAT113	uc001slc.3	P52630		ENST00000314128.4:c.1731C>T	12.37:g.56740733G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DLC7|G3V2M6|Q16430|Q16431|Q9UDL4	Silent	SNP	pfam_STAT_TF_DNA-bd,pfam_STAT_TF_alpha,pfam_STAT_TF_prot_interaction,pfam_STAT2_C,pfam_SH2,superfamily_p53-like_TF_DNA-bd,superfamily_STAT_TF_coiled-coil,superfamily_STAT_TF_prot_interaction,smart_STAT_TF_prot_interaction,smart_SH2,pfscan_SH2	p.I577	ENST00000314128.4	37	c.1731	CCDS8917.1	12																																																																																			STAT2	-	pfam_SH2,smart_SH2,pfscan_SH2		0.602	STAT2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STAT2	HGNC	protein_coding	OTTHUMT00000410277.1	G	NM_005419		56740733	-1	no_errors	ENST00000314128	ensembl	human	known	70_37	silent	SNP	1.000	A
STRADA	92335	genome.wustl.edu	37	17	61788121	61788121	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:61788121C>T	ENST00000336174.6	-	7	536	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RP11-51F16.8_ENST00000580553.1_3'UTR|STRADA_ENST00000392950.4_Missense_Mutation_p.E105K|STRADA_ENST00000580039.1_5'UTR|STRADA_ENST00000579340.1_Missense_Mutation_p.E84K|STRADA_ENST00000582137.1_Missense_Mutation_p.E113K|STRADA_ENST00000245865.5_Missense_Mutation_p.E84K|STRADA_ENST00000375840.4_Missense_Mutation_p.E84K|STRADA_ENST00000447001.3_Missense_Mutation_p.E98K	NM_001003787.2	NP_001003787.1	Q7RTN6	STRAA_HUMAN	STE20-related kinase adaptor alpha	142	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of protein kinase activity (GO:0032147)|cell cycle arrest (GO:0007050)|insulin receptor signaling pathway (GO:0008286)|protein export from nucleus (GO:0006611)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase binding (GO:0019900)|protein kinase activator activity (GO:0030295)|transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(2)	13						ACCCACAGCTCATTGTCTGCA	0.468																																																	0													157.0	126.0	137.0					17																	61788121		2203	4300	6503	SO:0001583	missense	92335			AF308302	CCDS11642.1, CCDS32703.1, CCDS42367.1, CCDS54156.1, CCDS58585.1	17q23.3	2014-09-04			ENSG00000266173	ENSG00000266173			30172	protein-coding gene	gene with protein product	"""STE20-like pseudokinase"""	608626				12805220, 17921699	Standard	NM_153335		Approved	NY-BR-96, LYK5, Stlk, STRAD	uc002jbm.3	Q7RTN6	OTTHUMG00000178908	ENST00000336174.6:c.424G>A	17.37:g.61788121C>T	ENSP00000336655:p.Glu142Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DDE3|B4DW17|J3KTC9|Q5JPI2|Q7Z4K9|Q8NC31|Q8NCF1|Q9H272	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E142K	ENST00000336174.6	37	c.424	CCDS32703.1	17	.	.	.	.	.	.	.	.	.	.	C	20.4	3.987823	0.74589	.	.	ENSG00000125695	ENST00000336174;ENST00000375840;ENST00000447001;ENST00000392950;ENST00000245865	T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16	5.24	5.24	0.73138	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.044590	0.85682	D	0.000000	T	0.68421	0.2999	N	0.21373	0.66	0.80722	D	1	P;D;D;B;D;D;D	0.89917	0.823;0.991;1.0;0.441;0.957;1.0;0.964	P;P;D;P;P;D;P	0.87578	0.603;0.89;0.998;0.485;0.569;0.998;0.721	T	0.64905	-0.6297	10	0.27082	T	0.32	.	19.0331	0.92965	0.0:1.0:0.0:0.0	.	113;98;84;84;105;105;142	B4DW17;B4DDE3;Q5JPI2;Q86YC8;Q7RTN6-2;Q7RTN6-3;Q7RTN6	.;.;.;.;.;.;STRAA_HUMAN	K	142;84;98;105;104	ENSP00000336655:E142K;ENSP00000365000:E84K;ENSP00000398841:E98K;ENSP00000376677:E105K	ENSP00000245865:E104K	E	-	1	0	STRADA	59141853	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	7.448000	0.80631	2.724000	0.93272	0.561000	0.74099	GAG	STRADA	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.468	STRADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STRADA	HGNC	protein_coding	OTTHUMT00000443894.1	C			61788121	-1	no_errors	ENST00000336174	ensembl	human	known	70_37	missense	SNP	1.000	T
STX12	23673	genome.wustl.edu	37	1	28148834	28148834	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:28148834G>A	ENST00000373943.4	+	9	950	c.825G>A	c.(823-825)acG>acA	p.T275T	RNU6-1245P_ENST00000411130.1_RNA|RP3-426I6.6_ENST00000602843.1_RNA	NM_177424.2	NP_803173.1	Q86Y82	STX12_HUMAN	syntaxin 12	275					cholesterol efflux (GO:0033344)|intracellular protein transport (GO:0006886)|protein stabilization (GO:0050821)|synaptic vesicle exocytosis (GO:0016079)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|phagocytic vesicle (GO:0045335)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|all_lung(284;9.43e-05)|Lung NSC(340;0.000185)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;3.96e-24)|Colorectal(126;3.46e-08)|COAD - Colon adenocarcinoma(152;1.83e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00258)|KIRC - Kidney renal clear cell carcinoma(1967;0.00302)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0649)		TTTATAAAACGAAGTGATTGC	0.418																																					Ovarian(5;5 342 2097 9488 34083)												0													143.0	136.0	138.0					1																	28148834		2203	4300	6503	SO:0001819	synonymous_variant	23673			BC046999	CCDS310.1	1p35.3	2008-05-14			ENSG00000117758	ENSG00000117758			11430	protein-coding gene	gene with protein product		606892				9507000	Standard	NM_177424		Approved	STX13, STX14	uc001bou.4	Q86Y82	OTTHUMG00000003730	ENST00000373943.4:c.825G>A	1.37:g.28148834G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJQ7|O95564	Silent	SNP	pfam_T_SNARE_dom,pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.T275	ENST00000373943.4	37	c.825	CCDS310.1	1																																																																																			STX12	-	NULL		0.418	STX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STX12	HGNC	protein_coding	OTTHUMT00000010519.1	G	NM_177424		28148834	+1	no_errors	ENST00000373943	ensembl	human	known	70_37	silent	SNP	0.998	A
STXBP4	252983	genome.wustl.edu	37	17	53150360	53150360	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:53150360G>A	ENST00000376352.2	+	13	1318	c.1111G>A	c.(1111-1113)Gaa>Aaa	p.E371K	STXBP4_ENST00000434978.2_Missense_Mutation_p.E349K	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	371					cellular response to DNA damage stimulus (GO:0006974)|glucose transport (GO:0015758)|insulin receptor signaling pathway (GO:0008286)|positive regulation of cell cycle G1/S phase transition (GO:1902808)|positive regulation of keratinocyte proliferation (GO:0010838)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATGGACTATGAAGAAGTGAT	0.448																																																	0													126.0	115.0	119.0					17																	53150360		2203	4300	6503	SO:0001583	missense	252983			BC041485	CCDS11584.2	17q22	2008-02-05			ENSG00000166263	ENSG00000166263			19694	protein-coding gene	gene with protein product		610415				12855681	Standard	XM_005257187		Approved	Synip, MGC50337	uc002iuf.1	Q6ZWJ1	OTTHUMG00000074043	ENST00000376352.2:c.1111G>A	17.37:g.53150360G>A	ENSP00000365530:p.Glu371Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVZ5	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,pfam_PDZ,superfamily_PDZ,superfamily_WW_Rsp5_WWP,smart_PDZ,smart_WW_Rsp5_WWP,pfscan_PDZ,pfscan_WW_Rsp5_WWP	p.E371K	ENST00000376352.2	37	c.1111	CCDS11584.2	17	.	.	.	.	.	.	.	.	.	.	G	35	5.456993	0.96223	.	.	ENSG00000166263	ENST00000376352;ENST00000434978	T;T	0.58358	0.34;0.34	5.57	5.57	0.84162	.	0.051957	0.85682	D	0.000000	T	0.74230	0.3689	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.72338	0.952;0.977	T	0.77189	-0.2679	10	0.87932	D	0	-6.7789	18.5196	0.90947	0.0:0.0:1.0:0.0	.	349;371	E7EPP7;Q6ZWJ1	.;STXB4_HUMAN	K	371;349	ENSP00000365530:E371K;ENSP00000391087:E349K	ENSP00000365530:E371K	E	+	1	0	STXBP4	50505359	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.655000	0.83696	2.593000	0.87608	0.650000	0.86243	GAA	STXBP4	-	NULL		0.448	STXBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STXBP4	HGNC	protein_coding	OTTHUMT00000157184.1	G	NM_178509		53150360	+1	no_errors	ENST00000376352	ensembl	human	known	70_37	missense	SNP	1.000	A
STXBP5	134957	genome.wustl.edu	37	6	147635411	147635411	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:147635411C>T	ENST00000321680.6	+	13	1305	c.1305C>T	c.(1303-1305)atC>atT	p.I435I	STXBP5_ENST00000367480.3_Silent_p.I435I|STXBP5_ENST00000179882.6_Silent_p.I106I|STXBP5_ENST00000367481.3_Silent_p.I435I	NM_001127715.2	NP_001121187.1	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	435					exocytosis (GO:0006887)|negative regulation of exocytosis (GO:0045920)|positive regulation of exocytosis (GO:0045921)|protein transport (GO:0015031)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|synapse (GO:0045202)	syntaxin-1 binding (GO:0017075)			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AATGGCCCATCAACGGAGGTA	0.383																																																	0													97.0	106.0	103.0					6																	147635411		2202	4300	6502	SO:0001819	synonymous_variant	134957			AK055484	CCDS5211.1, CCDS47499.1	6q24.3	2013-01-10			ENSG00000164506	ENSG00000164506		"""WD repeat domain containing"""	19665	protein-coding gene	gene with protein product		604586				9620695, 14767561	Standard	NM_139244		Approved	tomosyn, LLGL3	uc010khz.2	Q5T5C0	OTTHUMG00000015766	ENST00000321680.6:c.1305C>T	6.37:g.147635411C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14DF3|Q5T5C1|Q5T5C2|Q8NBG8|Q96NG9	Silent	SNP	pfam_LLGL2,pfam_WD40_repeat,pfam_Lgl_C,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,pfscan_Synaptobrevin,prints_Lethal2_giant	p.I435	ENST00000321680.6	37	c.1305	CCDS47499.1	6																																																																																			STXBP5	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat		0.383	STXBP5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	STXBP5	HGNC	protein_coding	OTTHUMT00000042606.1	C			147635411	+1	no_errors	ENST00000321680	ensembl	human	known	70_37	silent	SNP	0.997	T
SUMO3	6612	genome.wustl.edu	37	21	46225784	46225784	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:46225784G>A	ENST00000397898.3	-	0	1526				SUMO3_ENST00000332859.6_3'UTR|SUMO3_ENST00000479153.1_5'UTR|AL773604.8_ENST00000417820.1_RNA					small ubiquitin-like modifier 3											prostate(1)	1				Colorectal(79;0.058)		GCAGAACTATGAAAATGTTTA	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	6612				CCDS33587.1, CCDS68220.1	21q22.3	2013-06-05	2013-06-05	2004-05-19	ENSG00000184900	ENSG00000184900			11124	protein-coding gene	gene with protein product		602231	"""SMT3 (suppressor of mif two 3, yeast) homolog 1"", ""SMT3 suppressor of mif two 3 homolog 3 (yeast)"", ""SMT3 suppressor of mif two 3 homolog 3 (S. cerevisiae)"""	SMT3H1		9119407	Standard	NM_006936		Approved	SMT3A	uc002zfz.1	P55854	OTTHUMG00000090256	ENST00000397898.3:c.*1036C>T	21.37:g.46225784G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000397898.3	37	NULL		21																																																																																			SUMO3	-	-		0.408	SUMO3-002	NOVEL	basic|exp_conf	protein_coding	SUMO3	HGNC	protein_coding	OTTHUMT00000206561.1	G			46225784	-1	no_errors	ENST00000479153	ensembl	human	known	70_37	rna	SNP	0.000	A
SUN5	140732	genome.wustl.edu	37	20	31571708	31571708	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:31571708G>T	ENST00000356173.3	-	13	1124	c.1032C>A	c.(1030-1032)agC>agA	p.S344R	SUN5_ENST00000375523.3_Missense_Mutation_p.S319R	NM_080675.3	NP_542406.2	Q8TC36	SUN5_HUMAN	Sad1 and UNC84 domain containing 5	344	SUN. {ECO:0000255|PROSITE- ProRule:PRU00802}.				spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	25						TCCCCCAGTTGCTTGAGATCT	0.607																																																	0													90.0	95.0	93.0					20																	31571708		2203	4300	6503	SO:0001583	missense	140732			AL121756	CCDS13209.1	20q11.21	2010-01-27	2010-01-27	2010-01-27	ENSG00000167098	ENSG00000167098			16252	protein-coding gene	gene with protein product	"""testis and spermatogenesis related gene 4"""	613942	"""sperm associated antigen 4-like"""	SPAG4L		9691178, 10373309	Standard	NM_080675		Approved	dJ726C3.1, TSARG4	uc002wyi.3	Q8TC36	OTTHUMG00000032239	ENST00000356173.3:c.1032C>A	20.37:g.31571708G>T	ENSP00000348496:p.Ser344Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ82|Q5T9R0	Missense_Mutation	SNP	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like	p.S344R	ENST00000356173.3	37	c.1032	CCDS13209.1	20	.	.	.	.	.	.	.	.	.	.	G	19.39	3.818352	0.71028	.	.	ENSG00000167098	ENST00000356173;ENST00000375523	T;T	0.56275	0.47;0.47	4.73	3.78	0.43462	Sad1/UNC-like, C-terminal (2);	0.281130	0.40385	N	0.001101	T	0.72236	0.3435	M	0.87827	2.91	0.80722	D	1	D	0.71674	0.998	D	0.72338	0.977	T	0.75283	-0.3372	10	0.87932	D	0	-34.044	9.1773	0.37120	0.1023:0.0:0.8977:0.0	.	344	Q8TC36	SUN5_HUMAN	R	344;319	ENSP00000348496:S344R;ENSP00000364673:S319R	ENSP00000348496:S344R	S	-	3	2	SUN5	31035369	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	2.496000	0.45346	1.126000	0.42016	-0.251000	0.11542	AGC	SUN5	-	pfam_Sad1_UNC_C,superfamily_Galactose-bd-like		0.607	SUN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUN5	HGNC	protein_coding	OTTHUMT00000078659.1	G	NM_080675		31571708	-1	no_errors	ENST00000356173	ensembl	human	known	70_37	missense	SNP	0.998	T
SUPT5H	6829	genome.wustl.edu	37	19	39957123	39957123	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:39957123G>C	ENST00000599117.1	+	13	1247	c.880G>C	c.(880-882)Gac>Cac	p.D294H	SUPT5H_ENST00000598725.1_Missense_Mutation_p.D294H|SUPT5H_ENST00000359191.6_Missense_Mutation_p.D290H|SUPT5H_ENST00000432763.2_Missense_Mutation_p.D294H|SUPT5H_ENST00000402194.2_Missense_Mutation_p.D290H			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	294	KOW 1.				7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGCTCAGGTGGACTACGTGGA	0.592																																																	0													122.0	83.0	96.0					19																	39957123		2203	4300	6503	SO:0001583	missense	6829			U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.880G>C	19.37:g.39957123G>C	ENSP00000470252:p.Asp294His	Somatic		WXS	Illumina HiSeq	Phase_IV	O43279|Q59G52|Q99639	Missense_Mutation	SNP	pfam_TF_Spt5_NGN-domain,pfam_KOW,pfam_Spt5_N,superfamily_Translation_prot_SH3-like,smart_Transcrpt_antiterm_NusG_N,smart_KOW,pirsf_TF_Spt5	p.D294H	ENST00000599117.1	37	c.880	CCDS12536.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.243573	0.79912	.	.	ENSG00000196235	ENST00000432763;ENST00000402194;ENST00000378524;ENST00000359191	.	.	.	5.71	4.66	0.58398	KOW (1);	0.000000	0.85682	D	0.000000	T	0.77253	0.4103	M	0.74389	2.26	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.76071	0.987;0.971	T	0.77523	-0.2556	8	.	.	.	-25.8429	14.0896	0.64980	0.0755:0.0:0.9245:0.0	.	290;294	O00267-2;O00267	.;SPT5H_HUMAN	H	294;290;272;294	.	.	D	+	1	0	SUPT5H	44648963	1.000000	0.71417	1.000000	0.80357	0.688000	0.40055	7.811000	0.86092	2.699000	0.92147	0.655000	0.94253	GAC	SUPT5H	-	smart_KOW,pirsf_TF_Spt5		0.592	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SUPT5H	HGNC	protein_coding	OTTHUMT00000464918.1	G	NM_003169		39957123	+1	no_errors	ENST00000432763	ensembl	human	known	70_37	missense	SNP	1.000	C
SUPT6H	6830	genome.wustl.edu	37	17	27017196	27017196	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:27017196G>C	ENST00000314616.6	+	26	3722	c.3439G>C	c.(3439-3441)Gag>Cag	p.E1147Q	SUPT6H_ENST00000347486.4_Missense_Mutation_p.E1147Q	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1147	Interaction with KDM6A. {ECO:0000250}.				chromatin remodeling (GO:0006338)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|negative regulation of histone H3-K27 methylation (GO:0061086)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|regulation of isotype switching (GO:0045191)|regulation of mRNA export from nucleus (GO:0010793)|regulation of mRNA processing (GO:0050684)|regulation of muscle cell differentiation (GO:0051147)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|hydrolase activity, acting on ester bonds (GO:0016788)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TCCCAACACAGAGGAGATCTT	0.478																																																	0													104.0	98.0	100.0					17																	27017196		2203	4300	6503	SO:0001583	missense	6830			U38658	CCDS32596.1	17q11.2	2013-02-14	2001-11-28			ENSG00000109111		"""SH2 domain containing"""	11470	protein-coding gene	gene with protein product		601333	"""suppressor of Ty (S.cerevisiae) 6 homolog"""			8786132	Standard	XM_005258026		Approved	KIAA0162, SPT6H	uc002hby.3	Q7KZ85		ENST00000314616.6:c.3439G>C	17.37:g.27017196G>C	ENSP00000319104:p.Glu1147Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2B4|Q15737|Q6GMQ4|Q7KYW9|Q7LDK4|Q8N526|Q92775|Q96AH3|Q9BTH9|Q9BTI2	Missense_Mutation	SNP	pfam_Rbsml_prot_S1_RNA-bd_dom,pfam_SH2,superfamily_NA-bd_OB-fold-like,smart_YqgF/RNaseH-like_dom,smart_RNA-binding_domain_S1,smart_SH2,pirsf_TF_Spt6,pfscan_SH2,pfscan_Rbsml_prot_S1_RNA-bd_dom	p.E1147Q	ENST00000314616.6	37	c.3439	CCDS32596.1	17	.	.	.	.	.	.	.	.	.	.	G	35	5.470363	0.96274	.	.	ENSG00000109111	ENST00000314616	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	D	0.85600	0.5734	M	0.90705	3.14	0.80722	D	1	D	0.89917	1.0	D	0.71184	0.972	D	0.85995	0.1491	9	0.49607	T	0.09	-26.595	20.3668	0.98882	0.0:0.0:1.0:0.0	.	1147	Q7KZ85	SPT6H_HUMAN	Q	1147	.	ENSP00000319104:E1147Q	E	+	1	0	SUPT6H	24041323	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.160000	0.94734	2.894000	0.99253	0.655000	0.94253	GAG	SUPT6H	-	pirsf_TF_Spt6		0.478	SUPT6H-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SUPT6H	HGNC	protein_coding	OTTHUMT00000446422.2	G	NM_003170		27017196	+1	no_errors	ENST00000314616	ensembl	human	known	70_37	missense	SNP	1.000	C
SYCP2	10388	genome.wustl.edu	37	20	58455490	58455490	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:58455490C>G	ENST00000357552.3	-	31	3034	c.2809G>C	c.(2809-2811)Gat>Cat	p.D937H	SYCP2_ENST00000371001.2_Missense_Mutation_p.D937H			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	937					female meiotic division (GO:0007143)|fertilization (GO:0009566)|male genitalia morphogenesis (GO:0048808)|male meiosis (GO:0007140)|negative regulation of apoptotic process (GO:0043066)|synaptonemal complex assembly (GO:0007130)	lateral element (GO:0000800)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	DNA binding (GO:0003677)			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			GTTTCAGTATCACTAAACAGA	0.313																																																	0													85.0	76.0	79.0					20																	58455490		2193	4293	6486	SO:0001583	missense	10388			Y08982	CCDS13482.1	20q13.33	2007-07-02			ENSG00000196074	ENSG00000196074			11490	protein-coding gene	gene with protein product		604105				10341103, 9592139	Standard	NM_014258		Approved	SCP2	uc002yaz.3	Q9BX26	OTTHUMG00000032872	ENST00000357552.3:c.2809G>C	20.37:g.58455490C>G	ENSP00000350162:p.Asp937His	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUE5|O75763|Q5JX11|Q9NTX8|Q9UG27	Missense_Mutation	SNP	NULL	p.D937H	ENST00000357552.3	37	c.2809	CCDS13482.1	20	.	.	.	.	.	.	.	.	.	.	C	16.66	3.185217	0.57909	.	.	ENSG00000196074	ENST00000371001;ENST00000357552;ENST00000446834	T;T;T	0.55930	0.67;0.67;0.49	6.01	6.01	0.97437	.	0.000000	0.64402	D	0.000001	T	0.72843	0.3511	M	0.70275	2.135	0.45690	D	0.998609	D	0.89917	1.0	D	0.97110	1.0	T	0.74044	-0.3791	10	0.87932	D	0	-25.5438	17.4309	0.87539	0.0:1.0:0.0:0.0	.	937	Q9BX26	SYCP2_HUMAN	H	937	ENSP00000360040:D937H;ENSP00000350162:D937H;ENSP00000402456:D937H	ENSP00000350162:D937H	D	-	1	0	SYCP2	57888885	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	3.437000	0.52863	2.850000	0.98022	0.655000	0.94253	GAT	SYCP2	-	NULL		0.313	SYCP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYCP2	HGNC	protein_coding	OTTHUMT00000079930.3	C	NM_014258		58455490	-1	no_errors	ENST00000357552	ensembl	human	known	70_37	missense	SNP	1.000	G
SYN3	8224	genome.wustl.edu	37	22	33327449	33327449	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:33327449C>G	ENST00000358763.2	-	4	629	c.387G>C	c.(385-387)ttG>ttC	p.L129F	SYN3_ENST00000332840.5_Missense_Mutation_p.L129F	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	129	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion (GO:0007269)|regulation of synaptic transmission, GABAergic (GO:0032228)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CAGCTAGGTTCAACTCTGAGA	0.443																																																	0													96.0	91.0	92.0					22																	33327449		2203	4300	6503	SO:0001583	missense	8224			AF046873	CCDS13908.1	22q12.3	2008-05-14			ENSG00000185666	ENSG00000185666			11496	protein-coding gene	gene with protein product		602705				9539796	Standard	NM_003490		Approved		uc003amx.3	O14994	OTTHUMG00000031004	ENST00000358763.2:c.387G>C	22.37:g.33327449C>G	ENSP00000351614:p.Leu129Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B1F9	Missense_Mutation	SNP	pfam_Synapsin_ATP-bd_dom,pfam_Synapsin_pre-ATP-grasp_dom,pfam_Synapsin_P_site,pfam_ATP-grasp_RimK-type,superfamily_PreATP-grasp_fold,prints_Synapsin	p.L129F	ENST00000358763.2	37	c.387	CCDS13908.1	22	.	.	.	.	.	.	.	.	.	.	C	12.31	1.899928	0.33535	.	.	ENSG00000185666	ENST00000358763;ENST00000332840;ENST00000390686	T;T	0.39592	1.07;1.07	5.53	4.4	0.53042	Pre-ATP-grasp fold (1);PreATP-grasp-like fold (1);Synapsin, pre-ATP-grasp domain (1);	0.102221	0.43260	D	0.000595	T	0.58308	0.2113	M	0.78049	2.395	0.43569	D	0.99589	D;D;D	0.69078	0.997;0.991;0.997	D;P;D	0.64687	0.928;0.898;0.928	T	0.61510	-0.7048	10	0.87932	D	0	.	6.2062	0.20604	0.0:0.6738:0.15:0.1762	.	129;129;129	Q17R54;B1B1F9;O14994	.;.;SYN3_HUMAN	F	129	ENSP00000351614:L129F;ENSP00000330219:L129F	ENSP00000330219:L129F	L	-	3	2	SYN3	31657449	1.000000	0.71417	1.000000	0.80357	0.510000	0.34073	1.824000	0.39072	1.305000	0.44909	0.563000	0.77884	TTG	SYN3	-	pfam_Synapsin_pre-ATP-grasp_dom,superfamily_PreATP-grasp_fold,prints_Synapsin		0.443	SYN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYN3	HGNC	protein_coding	OTTHUMT00000075892.4	C			33327449	-1	no_errors	ENST00000332840	ensembl	human	known	70_37	missense	SNP	1.000	G
SYNE1	23345	genome.wustl.edu	37	6	152737793	152737793	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:152737793C>T	ENST00000367255.5	-	41	6380	c.5779G>A	c.(5779-5781)Gat>Aat	p.D1927N	SYNE1_ENST00000265368.4_Missense_Mutation_p.D1927N|SYNE1_ENST00000423061.1_Missense_Mutation_p.D1934N|SYNE1_ENST00000448038.1_Missense_Mutation_p.D1934N|SYNE1_ENST00000341594.5_Missense_Mutation_p.D1964N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1927					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		AGAATGCCATCCAGACTGACG	0.453										HNSCC(10;0.0054)																																							0													106.0	102.0	104.0					6																	152737793		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5779G>A	6.37:g.152737793C>T	ENSP00000356224:p.Asp1927Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.D1927N	ENST00000367255.5	37	c.5779	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	16.54	3.152580	0.57259	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.35236	1.32;1.32;1.32;1.32;1.32	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000003	T	0.54679	0.1873	M	0.74881	2.28	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;0.999;0.998	D;D;D;D	0.91635	0.999;0.94;0.94;0.935	T	0.35549	-0.9784	10	0.24483	T	0.36	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1910;1927;1927;1934	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	N	1927;1934;1927;1934;1964	ENSP00000356224:D1927N;ENSP00000396024:D1934N;ENSP00000265368:D1927N;ENSP00000390975:D1934N;ENSP00000341887:D1964N	ENSP00000265368:D1927N	D	-	1	0	SYNE1	152779486	1.000000	0.71417	0.117000	0.21633	0.177000	0.22998	7.818000	0.86416	2.885000	0.99019	0.655000	0.94253	GAT	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.453	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152737793	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE1	23345	genome.wustl.edu	37	6	152738138	152738138	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:152738138C>T	ENST00000367255.5	-	41	6035	c.5434G>A	c.(5434-5436)Gaa>Aaa	p.E1812K	SYNE1_ENST00000265368.4_Missense_Mutation_p.E1812K|SYNE1_ENST00000423061.1_Missense_Mutation_p.E1819K|SYNE1_ENST00000448038.1_Missense_Mutation_p.E1819K|SYNE1_ENST00000341594.5_Missense_Mutation_p.E1849K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1812					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		CTCTCTACTTCTGCTGCGTGG	0.488										HNSCC(10;0.0054)																																							0													91.0	91.0	91.0					6																	152738138		2203	4300	6503	SO:0001583	missense	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.5434G>A	6.37:g.152738138C>T	ENSP00000356224:p.Glu1812Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E1812K	ENST00000367255.5	37	c.5434	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	C	12.46	1.945289	0.34283	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.49139	0.79;0.79;0.79;0.79;0.79	6.16	5.29	0.74685	.	0.087235	0.49305	D	0.000151	T	0.32496	0.0831	L	0.60455	1.87	0.80722	D	1	B;B;B;B	0.30605	0.191;0.287;0.287;0.241	B;B;B;B	0.31442	0.09;0.048;0.048;0.13	T	0.16571	-1.0398	10	0.27082	T	0.32	.	17.581	0.87968	0.0:0.8765:0.1234:0.0	.	1795;1812;1812;1819	B3W695;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	1812;1819;1812;1819;1849	ENSP00000356224:E1812K;ENSP00000396024:E1819K;ENSP00000265368:E1812K;ENSP00000390975:E1819K;ENSP00000341887:E1849K	ENSP00000265368:E1812K	E	-	1	0	SYNE1	152779831	0.997000	0.39634	0.245000	0.24217	0.455000	0.32408	3.336000	0.52113	1.600000	0.50102	0.650000	0.86243	GAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1		0.488	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152738138	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	missense	SNP	0.997	T
SYNE2	23224	genome.wustl.edu	37	14	64494308	64494308	+	Silent	SNP	C	C	T	rs199743242		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:64494308C>T	ENST00000344113.4	+	43	6723	c.6511C>T	c.(6511-6513)Cta>Tta	p.L2171L	SYNE2_ENST00000554584.1_Silent_p.L2171L|SYNE2_ENST00000358025.3_Silent_p.L2171L|SYNE2_ENST00000357395.3_5'UTR	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2171					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AGGCTTTGCTCTACAACATGG	0.363																																																	0													103.0	97.0	99.0					14																	64494308		1814	4080	5894	SO:0001819	synonymous_variant	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.6511C>T	14.37:g.64494308C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Silent	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.L2171	ENST00000344113.4	37	c.6511	CCDS41963.1	14																																																																																			SYNE2	-	NULL		0.363	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64494308	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	silent	SNP	0.997	T
SYNE2	23224	genome.wustl.edu	37	14	64600860	64600860	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:64600860C>T	ENST00000344113.4	+	78	14800	c.14588C>T	c.(14587-14589)tCt>tTt	p.S4863F	SYNE2_ENST00000554584.1_Missense_Mutation_p.S4780F|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1497F|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1248F|SYNE2_ENST00000358025.3_Missense_Mutation_p.S4863F|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.S1248F	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4863					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACATTGCCCTCTGTGAGTTTG	0.358																																																	0													153.0	159.0	157.0					14																	64600860		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.14588C>T	14.37:g.64600860C>T	ENSP00000341781:p.Ser4863Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.S4863F	ENST00000344113.4	37	c.14588	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	C	13.17	2.157275	0.38119	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.59772	0.58;3.89;0.58;0.24;3.94;3.89	5.95	5.95	0.96441	.	0.000000	0.52532	D	0.000067	T	0.76111	0.3942	M	0.72894	2.215	0.80722	D	1	D;D;D	0.67145	0.991;0.995;0.996	P;P;D	0.65684	0.847;0.862;0.937	T	0.76591	-0.2903	10	0.72032	D	0.01	.	20.3645	0.98876	0.0:1.0:0.0:0.0	.	1248;4863;4863	Q8WXH0-7;Q8WXH0;Q8WXH0-2	.;SYNE2_HUMAN;.	F	4863;1248;4863;4780;4780;1497;1248	ENSP00000350719:S4863F;ENSP00000349969:S1248F;ENSP00000341781:S4863F;ENSP00000452570:S4780F;ENSP00000450831:S1497F;ENSP00000378249:S1248F	ENSP00000261678:S4780F	S	+	2	0	SYNE2	63670613	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.187000	0.58344	2.821000	0.97095	0.561000	0.74099	TCT	SYNE2	-	smart_Spectrin/alpha-actinin		0.358	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	C	NM_182914		64600860	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	T
SYNE2	23224	genome.wustl.edu	37	14	64680939	64680939	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:64680939G>A	ENST00000344113.4	+	106	19296	c.19084G>A	c.(19084-19086)Gag>Aag	p.E6362K	SYNE2_ENST00000554584.1_Missense_Mutation_p.E6304K|SYNE2_ENST00000555022.1_Missense_Mutation_p.E240K|SYNE2_ENST00000555002.1_Missense_Mutation_p.E2996K|SYNE2_ENST00000441438.2_5'Flank|SYNE2_ENST00000394768.2_Missense_Mutation_p.E2747K|SYNE2_ENST00000358025.3_Missense_Mutation_p.E6362K|SYNE2_ENST00000458046.2_5'UTR|SYNE2_ENST00000554805.1_Missense_Mutation_p.E145K|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000357395.3_Missense_Mutation_p.E2747K	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6362					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGAGGCCTCTGAGAATGAAAC	0.463																																																	0													98.0	101.0	100.0					14																	64680939		2203	4300	6503	SO:0001583	missense	23224			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.19084G>A	14.37:g.64680939G>A	ENSP00000341781:p.Glu6362Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.E6362K	ENST00000344113.4	37	c.19084	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	16.17	3.046230	0.55110	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768;ENST00000555022;ENST00000554805	T;T;T;T;T;T;T;T	0.58940	0.62;3.93;0.64;0.3;3.95;3.93;3.7;3.17	5.27	5.27	0.74061	.	0.000000	0.49916	D	0.000121	T	0.69949	0.3168	L	0.43152	1.355	0.80722	D	1	D;P;D;D;D	0.71674	0.989;0.892;0.998;0.979;0.994	D;P;D;P;D	0.66716	0.946;0.564;0.91;0.908;0.945	T	0.71421	-0.4598	10	0.66056	D	0.02	.	19.0978	0.93260	0.0:0.0:1.0:0.0	.	2747;750;6304;6362;6362	Q8WXH0-7;Q7Z362;G3V5X4;Q8WXH0;Q8WXH0-2	.;.;.;SYNE2_HUMAN;.	K	6362;2747;6362;6304;6310;2996;2747;240;145	ENSP00000350719:E6362K;ENSP00000349969:E2747K;ENSP00000341781:E6362K;ENSP00000452570:E6304K;ENSP00000450831:E2996K;ENSP00000378249:E2747K;ENSP00000451009:E240K;ENSP00000450605:E145K	ENSP00000261678:E6310K	E	+	1	0	SYNE2	63750692	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.781000	0.91805	2.735000	0.93741	0.655000	0.94253	GAG	SYNE2	-	NULL		0.463	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2	G	NM_182914		64680939	+1	no_errors	ENST00000358025	ensembl	human	known	70_37	missense	SNP	1.000	A
SYNRG	11276	genome.wustl.edu	37	17	35879064	35879064	+	Silent	SNP	G	G	A	rs572589591		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:35879064G>A	ENST00000339208.6	-	22	4064	c.3924C>T	c.(3922-3924)ctC>ctT	p.L1308L	SYNRG_ENST00000585472.1_Silent_p.L1229L|SYNRG_ENST00000591288.1_Silent_p.L1102L|SYNRG_ENST00000502449.2_Silent_p.L1173L|SYNRG_ENST00000346661.4_Silent_p.L1296L|SYNRG_ENST00000345615.4_Silent_p.L1218L|SYNRG_ENST00000394378.2_Silent_p.L1253L	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1308					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAGGCAGGACGAGGCCAGGAG	0.512																																																	0													187.0	180.0	183.0					17																	35879064		2203	4300	6503	SO:0001819	synonymous_variant	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3924C>T	17.37:g.35879064G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.L1308	ENST00000339208.6	37	c.3924	CCDS11321.1	17																																																																																			SYNRG	-	NULL		0.512	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	G	NM_007247		35879064	-1	no_errors	ENST00000339208	ensembl	human	known	70_37	silent	SNP	1.000	A
SYS1	90196	genome.wustl.edu	37	20	43994170	43994170	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:43994170G>C	ENST00000243918.5	+	3	453				SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000479779.1_3'UTR|SYS1_ENST00000372727.1_Intron|SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000414310.1_Intron	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	Sys1 golgi trafficking protein						protein transport (GO:0015031)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GCTCTGGGAAGAATGCTTGTT	0.453																																																	0																																										SO:0001627	intron_variant	90196			AL021578	CCDS13351.1, CCDS56192.1	20q13.12	2014-05-07	2014-05-07	2006-11-06	ENSG00000204070	ENSG00000204070			16162	protein-coding gene	gene with protein product		612979	"""chromosome 20 open reading frame 169"", ""SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)"""	C20orf169		15077113	Standard	NM_001197129		Approved	dJ453C12.4	uc002xnv.3	Q8N2H4	OTTHUMG00000032579	ENST00000243918.5:c.163-89G>C	20.37:g.43994170G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JFB3|E1P620|Q5QPU7|Q96SD8|Q9BQZ2|Q9BQZ4|Q9H1F7	RNA	SNP	-	NULL	ENST00000243918.5	37	NULL	CCDS13351.1	20																																																																																			SYS1	-	-		0.453	SYS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYS1	HGNC	protein_coding	OTTHUMT00000079453.2	G	NM_033542		43994170	+1	no_errors	ENST00000479779	ensembl	human	known	70_37	rna	SNP	0.007	C
SYT5	6861	genome.wustl.edu	37	19	55689700	55689700	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:55689700G>C	ENST00000354308.3	-	3	485	c.116C>G	c.(115-117)tCa>tGa	p.S39*	SYT5_ENST00000590851.1_Intron|SYT5_ENST00000537500.1_Nonsense_Mutation_p.S39*|CTD-2587H24.5_ENST00000591665.1_RNA	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	39					calcium ion-dependent exocytosis (GO:0017156)|energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|dense core granule (GO:0031045)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|synaptic vesicle (GO:0008021)	calcium-dependent phospholipid binding (GO:0005544)|metal ion binding (GO:0046872)|transporter activity (GO:0005215)			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GAGGAGGCCTGAGACCAGCAC	0.622																																																	0													25.0	25.0	25.0					19																	55689700		2203	4300	6503	SO:0001587	stop_gained	6861			X96783	CCDS12919.1, CCDS74455.1	19q13.42	2014-07-02			ENSG00000129990	ENSG00000129990		"""Synaptotagmins"""	11513	protein-coding gene	gene with protein product	"""synaptotagmin 5"""	600782				9177789	Standard	XM_006723338		Approved		uc002qjn.1	O00445	OTTHUMG00000180669	ENST00000354308.3:c.116C>G	19.37:g.55689700G>C	ENSP00000346265:p.Ser39*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWJ8|B7Z300|Q86X72	Nonsense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.S39*	ENST00000354308.3	37	c.116	CCDS12919.1	19	.	.	.	.	.	.	.	.	.	.	G	37	6.503268	0.97620	.	.	ENSG00000129990	ENST00000537500;ENST00000354308	.	.	.	4.06	4.06	0.47325	.	0.282893	0.32343	N	0.006225	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	.	10.4131	0.44305	0.1003:0.0:0.8997:0.0	.	.	.	.	X	39	.	ENSP00000346265:S39X	S	-	2	0	SYT5	60381512	1.000000	0.71417	0.986000	0.45419	0.657000	0.38888	4.614000	0.61183	2.214000	0.71695	0.561000	0.74099	TCA	SYT5	-	NULL		0.622	SYT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT5	HGNC	protein_coding	OTTHUMT00000452501.1	G	NM_003180		55689700	-1	no_errors	ENST00000354308	ensembl	human	known	70_37	nonsense	SNP	1.000	C
SYT8	90019	genome.wustl.edu	37	11	1853069	1853069	+	5'Flank	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:1853069C>T	ENST00000381968.3	+	0	0				SYT8_ENST00000341958.3_5'Flank|SYT8_ENST00000535046.1_Silent_p.F129F|SYT8_ENST00000436964.2_Intron	NM_138567.3	NP_612634	Q8NBV8	SYT8_HUMAN	synaptotagmin VIII						acrosome reaction (GO:0007340)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	transporter activity (GO:0005215)			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GACCCGCCTTCGGGTGTCTGA	0.682																																																	0																																										SO:0001631	upstream_gene_variant	90019			AL137708	CCDS7726.2	11p15.5	2013-01-21			ENSG00000149043	ENSG00000149043		"""Synaptotagmins"""	19264	protein-coding gene	gene with protein product		607719				7791877	Standard	XM_005253216		Approved	DKFZp434K0322	uc001lue.1	Q8NBV8	OTTHUMG00000009026		11.37:g.1853069C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFJ4|Q9NSV9	Silent	SNP	NULL	p.F129	ENST00000381968.3	37	c.387	CCDS7726.2	11																																																																																			SYT8	-	NULL		0.682	SYT8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYT8	HGNC	protein_coding	OTTHUMT00000025013.4	C			1853069	+1	no_errors	ENST00000535046	ensembl	human	known	70_37	silent	SNP	0.000	T
SYT9	143425	genome.wustl.edu	37	11	7439255	7439255	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:7439255G>C	ENST00000318881.6	+	5	1470	c.1233G>C	c.(1231-1233)aaG>aaC	p.K411N		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	411	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of insulin secretion (GO:0050796)	cell junction (GO:0030054)|dense core granule (GO:0031045)|integral component of membrane (GO:0016021)|secretory granule membrane (GO:0030667)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CATCCACCAAGAGGAACACCT	0.468																																																	0													188.0	154.0	165.0					11																	7439255		2201	4296	6497	SO:0001583	missense	143425			AK055003	CCDS7778.1	11p15.4	2013-01-21			ENSG00000170743	ENSG00000170743		"""Synaptotagmins"""	19265	protein-coding gene	gene with protein product		613528				11543631	Standard	NM_175733		Approved		uc001mfe.3	Q86SS6	OTTHUMG00000165499	ENST00000318881.6:c.1233G>C	11.37:g.7439255G>C	ENSP00000324419:p.Lys411Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.K411N	ENST00000318881.6	37	c.1233	CCDS7778.1	11	.	.	.	.	.	.	.	.	.	.	G	18.11	3.551944	0.65311	.	.	ENSG00000170743	ENST00000318881	T	0.73469	-0.75	5.85	3.9	0.45041	C2 membrane targeting protein (1);C2 calcium-dependent membrane targeting (2);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.64402	D	0.000008	D	0.86875	0.6038	M	0.89785	3.06	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.88177	0.2868	10	0.87932	D	0	.	9.8907	0.41288	0.1783:0.0:0.8217:0.0	.	411	Q86SS6	SYT9_HUMAN	N	411	ENSP00000324419:K411N	ENSP00000324419:K411N	K	+	3	2	SYT9	7395831	1.000000	0.71417	1.000000	0.80357	0.732000	0.41865	2.134000	0.42102	1.382000	0.46385	0.655000	0.94253	AAG	SYT9	-	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting		0.468	SYT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYT9	HGNC	protein_coding	OTTHUMT00000384483.1	G	NM_175733		7439255	+1	no_errors	ENST00000318881	ensembl	human	known	70_37	missense	SNP	1.000	C
SYTL2	54843	genome.wustl.edu	37	11	85436841	85436841	+	Intron	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:85436841G>T	ENST00000528231.1	-	7	1737				SYTL2_ENST00000354566.3_Missense_Mutation_p.P220H|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Missense_Mutation_p.P220H|SYTL2_ENST00000359152.5_Missense_Mutation_p.P744H	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATCTTCTCAGGTCCTTTGAC	0.388																																																	0													151.0	139.0	143.0					11																	85436841		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2097C>A	11.37:g.85436841G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.P744H	ENST00000528231.1	37	c.2231	CCDS53688.1	11	.	.	.	.	.	.	.	.	.	.	G	2.858	-0.236862	0.05944	.	.	ENSG00000137501	ENST00000359152;ENST00000354566;ENST00000525423	T;T;T	0.58797	0.35;0.31;0.33	5.55	2.64	0.31445	.	0.415904	0.20608	N	0.089022	T	0.31513	0.0799	N	0.11560	0.145	0.09310	N	1	B;B;B	0.31599	0.33;0.102;0.102	B;B;B	0.31614	0.133;0.063;0.063	T	0.13415	-1.0510	9	.	.	.	-0.6551	5.5486	0.17078	0.1571:0.0:0.6822:0.1608	.	220;220;220	Q9HCH5-11;Q9HCH5-7;Q9HCH5-8	.;.;.	H	744;220;220	ENSP00000352065:P744H;ENSP00000346576:P220H;ENSP00000432694:P220H	.	P	-	2	0	SYTL2	85114489	0.068000	0.21057	0.001000	0.08648	0.334000	0.28698	0.841000	0.27613	0.424000	0.26061	0.655000	0.94253	CCT	SYTL2	-	NULL		0.388	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85436841	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	missense	SNP	0.002	T
SYTL2	54843	genome.wustl.edu	37	11	85436849	85436849	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:85436849G>A	ENST00000528231.1	-	7	1737				SYTL2_ENST00000354566.3_Silent_p.V217V|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000525423.1_Silent_p.V217V|SYTL2_ENST00000359152.5_Silent_p.V741V	NM_001162951.1|NM_001162953.1	NP_001156423.1|NP_001156425.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2						exocytosis (GO:0006887)|intracellular protein transport (GO:0006886)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of mucus secretion (GO:0070257)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|exocytic vesicle (GO:0070382)|extrinsic component of plasma membrane (GO:0019897)|Golgi apparatus (GO:0005794)|melanosome (GO:0042470)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	neurexin family protein binding (GO:0042043)|phosphatase binding (GO:0019902)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CAGGTCCTTTGACTTCTTCCT	0.393																																																	0													155.0	140.0	145.0					11																	85436849		2203	4299	6502	SO:0001627	intron_variant	54843			AJ303364	CCDS31649.1, CCDS31652.1, CCDS41698.1, CCDS53687.1, CCDS53688.1, CCDS53689.1	11q14.1	2014-06-13			ENSG00000137501	ENSG00000137501			15585	protein-coding gene	gene with protein product	"""chromosome 11 synaptotagmin"", ""breast cancer-associated antigen SGA-72M"", ""protein phosphatase 1, regulatory subunit 151"""	612880				10997877	Standard	XM_005274057		Approved	FLJ20163, FLJ21219, KIAA1597, exophilin-4, CHR11SYT, SLP2, SGA72M, MGC102768, PPP1R151	uc001pbb.3	Q9HCH5	OTTHUMG00000166977	ENST00000528231.1:c.1459+2089C>T	11.37:g.85436849G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRS3|B4DJT5|B4DKW3|B4DQ26|B7SA85|B7ZLX6|B7ZLX7|Q2YDA7|Q6TV07|Q6ZN59|Q6ZVC5|Q8ND34|Q96BJ2|Q9H768|Q9NXM1	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.V741	ENST00000528231.1	37	c.2223	CCDS53688.1	11																																																																																			SYTL2	-	NULL		0.393	SYTL2-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	SYTL2	HGNC	protein_coding	OTTHUMT00000392192.1	G	NM_206927		85436849	-1	no_errors	ENST00000359152	ensembl	human	known	70_37	silent	SNP	0.002	A
TACR2	6865	genome.wustl.edu	37	10	71164665	71164665	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:71164665C>G	ENST00000373306.4	-	5	1657	c.1114G>C	c.(1114-1116)Gag>Cag	p.E372Q	TACR2_ENST00000373307.1_Missense_Mutation_p.E160Q	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	372					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						CGCCCCGCCTCCCCACTGGTA	0.567																																																	0													65.0	66.0	65.0					10																	71164665		2203	4300	6503	SO:0001583	missense	6865				CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.1114G>C	10.37:g.71164665C>G	ENSP00000362403:p.Glu372Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NK2_rcpt,prints_Neurokn_rcpt,prints_GPCR_Rhodpsn,prints_NPY_rcpt	p.E372Q	ENST00000373306.4	37	c.1114	CCDS7293.1	10	.	.	.	.	.	.	.	.	.	.	C	0.184	-1.059116	0.01950	.	.	ENSG00000075073	ENST00000373307;ENST00000373306	T;T	0.72167	0.09;-0.63	4.33	2.46	0.29980	.	1.412620	0.04326	N	0.351492	T	0.32704	0.0838	N	0.00237	-1.79	0.09310	N	0.99999	B	0.09022	0.002	B	0.06405	0.002	T	0.43261	-0.9402	10	0.07644	T	0.81	.	6.7086	0.23264	0.0:0.2349:0.589:0.1761	.	372	P21452	NK2R_HUMAN	Q	160;372	ENSP00000362404:E160Q;ENSP00000362403:E372Q	ENSP00000362403:E372Q	E	-	1	0	TACR2	70834671	0.007000	0.16637	0.189000	0.23252	0.005000	0.04900	0.685000	0.25378	0.752000	0.32923	0.655000	0.94253	GAG	TACR2	-	prints_NK2_rcpt		0.567	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TACR2	HGNC	protein_coding	OTTHUMT00000048411.1	C			71164665	-1	no_errors	ENST00000373306	ensembl	human	known	70_37	missense	SNP	0.624	G
TAF1	6872	genome.wustl.edu	37	X	70613181	70613181	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:70613181G>A	ENST00000373790.4	+	21	3130	c.3079G>A	c.(3079-3081)Gat>Aat	p.D1027N	TAF1_ENST00000276072.3_Missense_Mutation_p.D1048N|TAF1_ENST00000423759.1_Missense_Mutation_p.D1048N|TAF1_ENST00000449580.1_Missense_Mutation_p.D1027N	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1027					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGAAGTGATTGATGTGGTGCG	0.458																																																	0													122.0	112.0	116.0					X																	70613181		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3079G>A	X.37:g.70613181G>A	ENSP00000362895:p.Asp1027Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.D1027N	ENST00000373790.4	37	c.3079	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	34	5.402575	0.96030	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.13901	2.55;2.55;2.55;2.55	5.47	5.47	0.80525	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.45796	0.1360	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.996	T	0.54132	-0.8339	10	0.87932	D	0	.	18.4528	0.90710	0.0:0.0:1.0:0.0	.	1027;1027;1048	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	N	1027;1027;1048;1048	ENSP00000362895:D1027N;ENSP00000389000:D1027N;ENSP00000406549:D1048N;ENSP00000276072:D1048N	ENSP00000276072:D1048N	D	+	1	0	TAF1	70529906	1.000000	0.71417	0.988000	0.46212	0.979000	0.70002	9.209000	0.95087	2.299000	0.77371	0.600000	0.82982	GAT	TAF1	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	G	NM_004606		70613181	+1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	A
TAF1L	138474	genome.wustl.edu	37	9	32633691	32633691	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:32633691G>C	ENST00000242310.4	-	1	1976	c.1887C>G	c.(1885-1887)atC>atG	p.I629M	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	629					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GCCGGATTTTGATGGGCCCCA	0.502																																																	0													79.0	85.0	83.0					9																	32633691		2203	4300	6503	SO:0001583	missense	138474			AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.1887C>G	9.37:g.32633691G>C	ENSP00000418379:p.Ile629Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VG57	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.I629M	ENST00000242310.4	37	c.1887	CCDS35003.1	9	.	.	.	.	.	.	.	.	.	.	G	13.96	2.392814	0.42410	.	.	ENSG00000122728	ENST00000242310	T	0.13538	2.58	0.633	0.633	0.17712	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.041532	0.85682	D	0.000000	T	0.02767	0.0083	N	0.01168	-0.975	0.27413	N	0.954513	B	0.12013	0.005	B	0.15052	0.012	T	0.44019	-0.9355	10	0.02654	T	1	.	4.4208	0.11479	0.0:0.429:0.5709:1.0E-4	.	629	Q8IZX4	TAF1L_HUMAN	M	629	ENSP00000418379:I629M	ENSP00000418379:I629M	I	-	3	3	TAF1L	32623691	1.000000	0.71417	0.997000	0.53966	0.857000	0.48899	3.396000	0.52565	0.632000	0.30432	0.195000	0.17529	ATC	TAF1L	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591		0.502	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF1L	HGNC	protein_coding	OTTHUMT00000052012.2	G			32633691	-1	no_errors	ENST00000242310	ensembl	human	known	70_37	missense	SNP	1.000	C
TAF4B	6875	genome.wustl.edu	37	18	23901074	23901074	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:23901074G>C	ENST00000269142.5	+	11	3041	c.2043G>C	c.(2041-2043)gtG>gtC	p.V681V	TAF4B_ENST00000578121.1_Silent_p.V686V	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	681	Histone-fold.				gene expression (GO:0010467)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|NF-kappaB binding (GO:0051059)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CTGATGCTGTGAACTTGATCT	0.388																																																	0													106.0	97.0	100.0					18																	23901074		1894	4126	6020	SO:0001819	synonymous_variant	6875			Y09321	CCDS42421.1	18q11.1	2008-08-01	2002-08-29	2001-12-07		ENSG00000141384			11538	protein-coding gene	gene with protein product	"""TATA box binding protein (TBP)-associated factor 4B"""	601689	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C2, 105kD"""	TAF2C2		8858156, 10849440	Standard	XM_005258339		Approved	TAFII105	uc002kvu.4	Q92750		ENST00000269142.5:c.2043G>C	18.37:g.23901074G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q29YA4|Q29YA5	Silent	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.V681	ENST00000269142.5	37	c.2043	CCDS42421.1	18																																																																																			TAF4B	-	pfam_TAF4,superfamily_Histone-fold		0.388	TAF4B-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF4B	HGNC	protein_coding	OTTHUMT00000446260.3	G	NM_005640		23901074	+1	no_errors	ENST00000269142	ensembl	human	known	70_37	silent	SNP	1.000	C
TAF6L	10629	genome.wustl.edu	37	11	62553839	62553839	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:62553839C>G	ENST00000294168.3	+	10	1269	c.1068C>G	c.(1066-1068)caC>caG	p.H356Q	RP11-727F15.12_ENST00000601484.1_RNA|TMEM223_ENST00000527073.1_Intron|TMEM179B_ENST00000333449.4_5'Flank|TMEM179B_ENST00000533861.1_5'Flank	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	356					chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|histone H3 acetylation (GO:0043966)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	histone deacetylase complex (GO:0000118)|STAGA complex (GO:0030914)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						CAGATGGACACAAAGTCTATG	0.502											OREG0021030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													162.0	149.0	153.0					11																	62553839		2201	4299	6500	SO:0001583	missense	10629			BC008785	CCDS8035.1	11q12.3	2008-02-01	2002-08-29		ENSG00000162227	ENSG00000162227			17305	protein-coding gene	gene with protein product		602946	"""TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65 kD"""			9674425	Standard	NM_006473		Approved	PAF65A	uc001nvc.3	Q9Y6J9	OTTHUMG00000167610	ENST00000294168.3:c.1068C>G	11.37:g.62553839C>G	ENSP00000294168:p.His356Gln	Somatic	1062	WXS	Illumina HiSeq	Phase_IV	B2RAT0|Q96HA6	Missense_Mutation	SNP	pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd	p.H356Q	ENST00000294168.3	37	c.1068	CCDS8035.1	11	.	.	.	.	.	.	.	.	.	.	C	16.75	3.208275	0.58343	.	.	ENSG00000162227	ENST00000294168	T	0.47528	0.84	5.77	4.86	0.63082	.	0.000000	0.85682	D	0.000000	T	0.54711	0.1875	L	0.29908	0.895	0.80722	D	1	D	0.76494	0.999	D	0.78314	0.991	T	0.52601	-0.8554	10	0.34782	T	0.22	-33.4128	13.0255	0.58812	0.0:0.9217:0.0:0.0783	.	356	Q9Y6J9	TAF6L_HUMAN	Q	356	ENSP00000294168:H356Q	ENSP00000294168:H356Q	H	+	3	2	TAF6L	62310415	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.598000	0.54038	1.575000	0.49775	0.655000	0.94253	CAC	TAF6L	-	NULL		0.502	TAF6L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF6L	HGNC	protein_coding	OTTHUMT00000395352.1	C	NM_006473		62553839	+1	no_errors	ENST00000294168	ensembl	human	known	70_37	missense	SNP	1.000	G
TANC2	26115	genome.wustl.edu	37	17	61498543	61498543	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:61498543G>C	ENST00000424789.2	+	25	5204	c.5200G>C	c.(5200-5202)Gat>Cat	p.D1734H	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.D1744H	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1734					in utero embryonic development (GO:0001701)					breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CTCAAAACTAGATCTGGAGCG	0.527																																																	0													190.0	190.0	190.0					17																	61498543		2049	4207	6256	SO:0001583	missense	26115			AB032974	CCDS45754.1	17q23.3	2013-01-11				ENSG00000170921		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	30212	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	615047					Standard	NM_025185		Approved	DKFZP564D166, FLJ10215, FLJ11824, KIAA1148, KIAA1636, rols, ROLSA	uc002jal.4	Q9HCD6		ENST00000424789.2:c.5200G>C	17.37:g.61498543G>C	ENSP00000387593:p.Asp1734His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9HAC3|Q9NW88|Q9NXY9|Q9ULS2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.D1734H	ENST00000424789.2	37	c.5200	CCDS45754.1	17	.	.	.	.	.	.	.	.	.	.	G	13.63	2.295478	0.40594	.	.	ENSG00000170921	ENST00000389520;ENST00000424789	T;T	0.68479	-0.33;-0.33	4.79	4.79	0.61399	.	0.124125	0.53938	D	0.000046	T	0.49184	0.1542	N	0.08118	0	0.46356	D	0.999008	P	0.39964	0.697	B	0.38562	0.276	T	0.58629	-0.7603	10	0.52906	T	0.07	.	16.5616	0.84568	0.0:0.0:1.0:0.0	.	1734	Q9HCD6	TANC2_HUMAN	H	1744;1734	ENSP00000374171:D1744H;ENSP00000387593:D1734H	ENSP00000374171:D1744H	D	+	1	0	TANC2	58852275	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.208000	0.95075	2.648000	0.89879	0.561000	0.74099	GAT	TANC2	-	NULL		0.527	TANC2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TANC2	HGNC	protein_coding	OTTHUMT00000444765.1	G			61498543	+1	no_errors	ENST00000424789	ensembl	human	known	70_37	missense	SNP	1.000	C
TAOK2	9344	genome.wustl.edu	37	16	29993184	29993184	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:29993184G>C	ENST00000308893.4	+	10	1797	c.754G>C	c.(754-756)Gag>Cag	p.E252Q	TAOK2_ENST00000416441.2_Missense_Mutation_p.E79Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.E252Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.E252Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	252	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TTTCAGGTCTGAGTACTTCCG	0.552																																																	0													67.0	67.0	67.0					16																	29993184		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.754G>C	16.37:g.29993184G>C	ENSP00000310094:p.Glu252Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E252Q	ENST00000308893.4	37	c.754	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	25.9	4.688274	0.88639	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	D;D;D	0.86297	-2.1;-2.1;-2.1	5.91	5.91	0.95273	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.051208	0.85682	D	0.000000	D	0.85691	0.5755	L	0.31926	0.97	0.58432	D	0.999999	B;D;B;B;B	0.60575	0.12;0.988;0.004;0.004;0.023	B;P;B;B;B	0.48901	0.034;0.594;0.01;0.017;0.053	D	0.84052	0.0370	9	.	.	.	.	19.0726	0.93145	0.0:0.0:1.0:0.0	.	436;79;252;252;252	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	Q	252	ENSP00000310094:E252Q;ENSP00000440336:E252Q;ENSP00000279394:E252Q	.	E	+	1	0	TAOK2	29900685	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	9.869000	0.99810	2.809000	0.96659	0.555000	0.69702	GAG	TAOK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.552	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29993184	+1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	1.000	C
TAOK2	9344	genome.wustl.edu	37	16	29994587	29994587	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:29994587G>C	ENST00000308893.4	+	12	2237	c.1194G>C	c.(1192-1194)gaG>gaC	p.E398D	TAOK2_ENST00000416441.2_Missense_Mutation_p.E225D|TAOK2_ENST00000543033.1_Missense_Mutation_p.E398D|TAOK2_ENST00000279394.3_Missense_Mutation_p.E398D	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	398	Glu-rich.				actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AAGCCCGGGAGATGGCCATGA	0.622																																																	0													45.0	40.0	42.0					16																	29994587		2197	4300	6497	SO:0001583	missense	9344			AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1194G>C	16.37:g.29994587G>C	ENSP00000310094:p.Glu398Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E398D	ENST00000308893.4	37	c.1194	CCDS10663.1	16	.	.	.	.	.	.	.	.	.	.	G	12.26	1.885848	0.33348	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.29397	1.57;1.57;1.57	5.24	2.21	0.28008	.	0.000000	0.85682	D	0.000000	T	0.39627	0.1085	L	0.41079	1.255	0.44619	D	0.997597	D;D;B;B;B	0.67145	0.972;0.996;0.206;0.397;0.32	P;D;B;B;B	0.76071	0.675;0.987;0.129;0.218;0.147	T	0.07712	-1.0758	9	.	.	.	.	7.7584	0.28938	0.3374:0.0:0.6626:0.0	.	589;225;398;398;398	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	D	398	ENSP00000310094:E398D;ENSP00000440336:E398D;ENSP00000279394:E398D	.	E	+	3	2	TAOK2	29902088	1.000000	0.71417	1.000000	0.80357	0.176000	0.22953	1.703000	0.37846	0.618000	0.30179	-1.012000	0.02466	GAG	TAOK2	-	NULL		0.622	TAOK2-002	KNOWN	basic|CCDS	protein_coding	TAOK2	HGNC	protein_coding	OTTHUMT00000255152.2	G	NM_016151		29994587	+1	no_errors	ENST00000308893	ensembl	human	known	70_37	missense	SNP	1.000	C
TAOK3	51347	genome.wustl.edu	37	12	118597971	118597971	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:118597971C>G	ENST00000392533.3	-	19	2822	c.2332G>C	c.(2332-2334)Gaa>Caa	p.E778Q	TAOK3_ENST00000537952.1_Missense_Mutation_p.E318Q|TAOK3_ENST00000419821.2_Missense_Mutation_p.E778Q|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	778					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCCATCATTTCATTTATACTC	0.428																																																	0													252.0	226.0	235.0					12																	118597971		2203	4300	6503	SO:0001583	missense	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2332G>C	12.37:g.118597971C>G	ENSP00000376317:p.Glu778Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E778Q	ENST00000392533.3	37	c.2332	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	C	33	5.227891	0.95173	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952	T;T;T	0.73897	-0.79;-0.79;1.24	5.29	5.29	0.74685	.	0.247105	0.39759	N	0.001279	D	0.82430	0.5035	M	0.74647	2.275	0.58432	D	0.999999	P	0.50156	0.932	P	0.51615	0.675	D	0.84515	0.0624	10	0.72032	D	0.01	.	19.1238	0.93374	0.0:1.0:0.0:0.0	.	778	Q9H2K8	TAOK3_HUMAN	Q	778;778;318	ENSP00000416374:E778Q;ENSP00000376317:E778Q;ENSP00000443834:E318Q	ENSP00000376317:E778Q	E	-	1	0	TAOK3	117082354	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.609000	0.82925	2.752000	0.94435	0.557000	0.71058	GAA	TAOK3	-	NULL		0.428	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	C	NM_016281		118597971	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	missense	SNP	1.000	G
TAS2R42	353164	genome.wustl.edu	37	12	11338902	11338902	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:11338902C>T	ENST00000334266.1	-	1	641	c.642G>A	c.(640-642)ttG>ttA	p.L214L		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	214					sensory perception of taste (GO:0050909)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			AACTGAGCTTCAAATTTCTAG	0.413																																					Melanoma(15;352 722 10077 19546 48810)												0													59.0	63.0	62.0					12																	11338902		2202	4300	6502	SO:0001819	synonymous_variant	353164			AX097739, AB199241	CCDS31747.1	12p13	2012-08-22			ENSG00000186136	ENSG00000186136		"""Taste receptors / Type 2"", ""GPCR / Unclassified : Taste receptors"""	18888	protein-coding gene	gene with protein product		613966				12679530	Standard	NM_181429		Approved	T2R24, T2R55, hT2R55, TAS2R55	uc001qzr.1	Q7RTR8	OTTHUMG00000168567	ENST00000334266.1:c.642G>A	12.37:g.11338902C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRP4|Q645X0	Silent	SNP	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.L214	ENST00000334266.1	37	c.642	CCDS31747.1	12																																																																																			TAS2R42	-	pfam_TAS2_rcpt,pfscan_GPCR_Rhodpsn_7TM		0.413	TAS2R42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS2R42	HGNC	protein_coding	OTTHUMT00000400243.1	C	NM_181429		11338902	-1	no_errors	ENST00000334266	ensembl	human	known	70_37	silent	SNP	0.032	T
TAOK3	51347	genome.wustl.edu	37	12	118598015	118598015	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:118598015C>G	ENST00000392533.3	-	19	2778	c.2288G>C	c.(2287-2289)aGa>aCa	p.R763T	TAOK3_ENST00000537952.1_Missense_Mutation_p.R303T|TAOK3_ENST00000419821.2_Missense_Mutation_p.R763T|TAOK3_ENST00000543709.1_5'UTR	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	763					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|MAPK cascade (GO:0000165)|mitotic G2 DNA damage checkpoint (GO:0007095)|negative regulation of JNK cascade (GO:0046329)|negative regulation of protein kinase activity (GO:0006469)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)|transferase activity (GO:0016740)			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCAAGTTTTCTTGTCTGCTC	0.423																																																	0													304.0	268.0	280.0					12																	118598015		2203	4300	6503	SO:0001583	missense	51347			AF135158	CCDS9188.1	12q	2007-08-03				ENSG00000135090			18133	protein-coding gene	gene with protein product						10559204, 10924369	Standard	NM_016281		Approved	JIK, DPK, MAP3K18	uc001twy.4	Q9H2K8		ENST00000392533.3:c.2288G>C	12.37:g.118598015C>G	ENSP00000376317:p.Arg763Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658N1|Q8IUM4|Q9HC79|Q9NZM9|Q9UHG7	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R763T	ENST00000392533.3	37	c.2288	CCDS9188.1	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.774627	0.90108	.	.	ENSG00000135090	ENST00000419821;ENST00000392533;ENST00000537952	T;T;T	0.76578	-1.03;-1.03;1.01	5.29	5.29	0.74685	.	0.109633	0.64402	D	0.000008	D	0.87265	0.6134	M	0.80616	2.505	0.80722	D	1	D	0.55385	0.971	P	0.58130	0.833	D	0.88663	0.3190	10	0.87932	D	0	.	19.1238	0.93374	0.0:1.0:0.0:0.0	.	763	Q9H2K8	TAOK3_HUMAN	T	763;763;303	ENSP00000416374:R763T;ENSP00000376317:R763T;ENSP00000443834:R303T	ENSP00000376317:R763T	R	-	2	0	TAOK3	117082398	1.000000	0.71417	0.993000	0.49108	0.998000	0.95712	7.609000	0.82925	2.752000	0.94435	0.557000	0.71058	AGA	TAOK3	-	NULL		0.423	TAOK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAOK3	HGNC	protein_coding	OTTHUMT00000401456.2	C	NM_016281		118598015	-1	no_errors	ENST00000392533	ensembl	human	known	70_37	missense	SNP	1.000	G
TBC1D5	9779	genome.wustl.edu	37	3	17413625	17413625	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:17413625C>T	ENST00000253692.7	-	13	2601	c.937G>A	c.(937-939)Gat>Aat	p.D313N	TBC1D5_ENST00000446818.2_Missense_Mutation_p.D313N|TBC1D5_ENST00000429383.4_Missense_Mutation_p.D313N|TBC1D5_ENST00000414318.2_Intron|TBC1D5_ENST00000429924.2_Missense_Mutation_p.D265N	NM_014744.2	NP_055559.1	Q92609	TBCD5_HUMAN	TBC1 domain family, member 5	313	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					retromer complex (GO:0030904)	Rab GTPase activator activity (GO:0005097)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	36						AGCTCAATATCATGCTTCTTC	0.368																																																	0													169.0	163.0	165.0					3																	17413625		2203	4300	6503	SO:0001583	missense	9779			D86965	CCDS33714.1, CCDS46770.1	3p24.3	2013-07-09			ENSG00000131374	ENSG00000131374			19166	protein-coding gene	gene with protein product		615740				19531583	Standard	NM_014744		Approved	KIAA0210	uc003cbe.3	Q92609	OTTHUMG00000155488	ENST00000253692.7:c.937G>A	3.37:g.17413625C>T	ENSP00000253692:p.Asp313Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP25|C9JP52	Missense_Mutation	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.D313N	ENST00000253692.7	37	c.937	CCDS33714.1	3	.	.	.	.	.	.	.	.	.	.	C	28.3	4.905401	0.92107	.	.	ENSG00000131374	ENST00000253692;ENST00000429383;ENST00000446818;ENST00000429924	T;T;T;T	0.29142	1.58;1.58;1.58;1.58	5.79	4.91	0.64330	Rab-GAP/TBC domain (5);	0.000000	0.85682	D	0.000000	T	0.60431	0.2268	M	0.83692	2.655	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.97110	0.996;0.997;1.0	T	0.68356	-0.5430	10	0.87932	D	0	-9.4153	16.8366	0.85958	0.0:0.8713:0.1287:0.0	.	265;313;313	C9J3F6;C9JP52;Q92609	.;.;TBCD5_HUMAN	N	313;313;313;265	ENSP00000253692:D313N;ENSP00000398127:D313N;ENSP00000402935:D313N;ENSP00000411925:D265N	ENSP00000253692:D313N	D	-	1	0	TBC1D5	17388629	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	7.786000	0.85741	1.439000	0.47511	0.491000	0.48974	GAT	TBC1D5	-	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom		0.368	TBC1D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D5	HGNC	protein_coding	OTTHUMT00000340301.3	C	NM_014744		17413625	-1	no_errors	ENST00000253692	ensembl	human	known	70_37	missense	SNP	1.000	T
TCEAL3	85012	genome.wustl.edu	37	X	102863560	102863560	+	5'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:102863560G>A	ENST00000372628.1	+	0	295				TCEAL3_ENST00000477014.1_3'UTR|TCEAL3_ENST00000372627.5_5'UTR|TCEAL3_ENST00000243286.3_5'UTR			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						AGCGCTCTGCGAGGCCTAAAA	0.602																																																	0																																										SO:0001623	5_prime_UTR_variant	85012			BC008703	CCDS14511.1	Xq22.2	2014-03-21			ENSG00000196507	ENSG00000196507			28247	protein-coding gene	gene with protein product						16221301	Standard	NM_032926		Approved	MGC15737, WEX8	uc004ekr.3	Q969E4	OTTHUMG00000022106	ENST00000372628.1:c.-64G>A	X.37:g.102863560G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DXA4	RNA	SNP	-	NULL	ENST00000372628.1	37	NULL	CCDS14511.1	X																																																																																			TCEAL3	-	-		0.602	TCEAL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEAL3	HGNC	protein_coding	OTTHUMT00000057737.1	G	NM_032926		102863560	+1	no_errors	ENST00000477014	ensembl	human	known	70_37	rna	SNP	0.000	A
TCEB1	6921	genome.wustl.edu	37	8	74868231	74868231	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:74868231C>T	ENST00000522337.1	-	4	382	c.63G>A	c.(61-63)ttG>ttA	p.L21L	TCEB1_ENST00000520242.1_Silent_p.L21L|TCEB1_ENST00000520210.1_Silent_p.L5L|TCEB1_ENST00000519487.1_Silent_p.L21L|TCEB1_ENST00000284811.8_Silent_p.L21L|TCEB1_ENST00000602840.1_Silent_p.L21L|TCEB1_ENST00000523815.1_Silent_p.L21L|TCEB1_ENST00000518127.1_Silent_p.L21L			Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	21					cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)				endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			CAGATGATATCAATTTGACAT	0.398																																																	0													81.0	74.0	76.0					8																	74868231		2203	4300	6503	SO:0001819	synonymous_variant	6921			L34587	CCDS34910.1, CCDS56539.1	8q13.3	2010-04-21	2002-08-29		ENSG00000154582	ENSG00000154582			11617	protein-coding gene	gene with protein product		600788	"""transcription elongation factor B (SIII), polypeptide 1 (15kD, elongin C)"""			7821821, 7660122	Standard	NM_005648		Approved	SIII	uc003xzx.2	Q15369	OTTHUMG00000164501	ENST00000522337.1:c.63G>A	8.37:g.74868231C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E5RGD9|Q567Q6	Silent	SNP	pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp	p.L21	ENST00000522337.1	37	c.63	CCDS34910.1	8																																																																																			TCEB1	-	pfam_Skp1_comp_POZ,superfamily_BTB/POZ_fold,smart_Skp1_comp		0.398	TCEB1-010	NOVEL	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TCEB1	HGNC	protein_coding	OTTHUMT00000379020.1	C	NM_005648		74868231	-1	no_errors	ENST00000520242	ensembl	human	known	70_37	silent	SNP	1.000	T
TCEB3B	51224	genome.wustl.edu	37	18	44559777	44559777	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:44559777C>G	ENST00000332567.4	-	1	2211	c.1859G>C	c.(1858-1860)aGa>aCa	p.R620T	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	620	Activation domain. {ECO:0000250}.				regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGTCATTACTCTCAGCCGCTG	0.498																																																	0													96.0	98.0	97.0					18																	44559777		2203	4300	6503	SO:0001583	missense	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1859G>C	18.37:g.44559777C>G	ENSP00000331302:p.Arg620Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2V9	Missense_Mutation	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.R620T	ENST00000332567.4	37	c.1859	CCDS11932.1	18	.	.	.	.	.	.	.	.	.	.	C	9.934	1.215662	0.22373	.	.	ENSG00000206181	ENST00000332567	T	0.32988	1.43	1.4	0.48	0.16804	.	0.172078	0.27088	N	0.020983	T	0.29061	0.0722	L	0.48877	1.53	0.09310	N	1	P	0.37688	0.605	P	0.48921	0.595	T	0.10917	-1.0609	10	0.30854	T	0.27	-4.0646	2.2609	0.04067	0.295:0.5067:0.0:0.1983	.	620	Q8IYF1	ELOA2_HUMAN	T	620	ENSP00000331302:R620T	ENSP00000331302:R620T	R	-	2	0	TCEB3B	42813775	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	0.267000	0.18552	0.151000	0.19162	0.609000	0.83330	AGA	TCEB3B	-	pfam_RNA_pol_II_trans_fac_SIII_A		0.498	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	C	NM_016427		44559777	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	missense	SNP	0.014	G
TCEB3B	51224	genome.wustl.edu	37	18	44560325	44560325	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:44560325C>T	ENST00000332567.4	-	1	1663	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	437					regulation of DNA-templated transcription, elongation (GO:0032784)|transcription from RNA polymerase II promoter (GO:0006366)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GCCTCTCTGACTGGCTTTCCT	0.582																																																	0													74.0	74.0	74.0					18																	44560325		2202	4300	6502	SO:0001819	synonymous_variant	51224			BC036022	CCDS11932.1	18q21.1	2009-08-04			ENSG00000206181	ENSG00000206181			30771	protein-coding gene	gene with protein product	"""transcription elongation factor (SIII) elongin A2"", ""elongin A2"""	609522				7660129, 8244996	Standard	NM_016427		Approved	HsT832, TCEB3L	uc002lcr.1	Q8IYF1	OTTHUMG00000132649	ENST00000332567.4:c.1311G>A	18.37:g.44560325C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2V9	Silent	SNP	pfam_RNA_pol_II_trans_fac_SIII_A,pfam_TFIIS_N,superfamily_TFIIS_N,smart_TFIIS/CRSP70_N_sub	p.Q437	ENST00000332567.4	37	c.1311	CCDS11932.1	18																																																																																			TCEB3B	-	NULL		0.582	TCEB3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCEB3B	HGNC	protein_coding	OTTHUMT00000255900.1	C	NM_016427		44560325	-1	no_errors	ENST00000332567	ensembl	human	known	70_37	silent	SNP	0.000	T
TCHH	7062	genome.wustl.edu	37	1	152082912	152082912	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:152082912C>G	ENST00000368804.1	-	2	2780	c.2781G>C	c.(2779-2781)gaG>gaC	p.E927D		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	927	10 X 30 AA tandem repeats.				keratinization (GO:0031424)	cytoskeleton (GO:0005856)	calcium ion binding (GO:0005509)			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTATTGTCTCTCCTGTTCTT	0.577																																																	0													141.0	149.0	146.0					1																	152082912		2079	4217	6296	SO:0001583	missense	7062			L09190	CCDS41396.1	1q21-q23	2013-01-10		2006-01-27	ENSG00000159450	ENSG00000159450		"""EF-hand domain containing"""	11791	protein-coding gene	gene with protein product		190370		THH		1431214	Standard	NM_007113		Approved		uc001ezp.3	Q07283	OTTHUMG00000013066	ENST00000368804.1:c.2781G>C	1.37:g.152082912C>G	ENSP00000357794:p.Glu927Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUI3	Missense_Mutation	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.E927D	ENST00000368804.1	37	c.2781	CCDS41396.1	1	.	.	.	.	.	.	.	.	.	.	c	8.235	0.805554	0.16467	.	.	ENSG00000159450	ENST00000368804	T	0.06068	3.35	3.23	-4.42	0.03579	.	.	.	.	.	T	0.01189	0.0039	N	0.24115	0.695	0.09310	N	1	B	0.14438	0.01	B	0.10450	0.005	T	0.48703	-0.9012	9	0.27082	T	0.32	-0.5353	8.4825	0.33052	0.0:0.3505:0.5376:0.1118	.	927	Q07283	TRHY_HUMAN	D	927	ENSP00000357794:E927D	ENSP00000357794:E927D	E	-	3	2	TCHH	150349536	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-3.078000	0.00615	-0.107000	0.12088	-0.519000	0.04390	GAG	TCHH	-	NULL		0.577	TCHH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHH	HGNC	protein_coding	OTTHUMT00000036671.2	C	NM_007113		152082912	-1	no_errors	ENST00000368804	ensembl	human	known	70_37	missense	SNP	0.000	G
TDRD3	81550	genome.wustl.edu	37	13	61041493	61041493	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:61041493G>A	ENST00000196169.3	+	5	984	c.196G>A	c.(196-198)Gag>Aag	p.E66K	TDRD3_ENST00000535286.1_Missense_Mutation_p.E159K|TDRD3_ENST00000377881.2_Missense_Mutation_p.E66K|TDRD3_ENST00000377894.2_Missense_Mutation_p.E66K	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	66					chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		ACACCTTATTGAGAAATGGGA	0.353																																					Colon(36;164 906 35820 50723)												0													125.0	116.0	119.0					13																	61041493		2203	4300	6503	SO:0001583	missense	81550			AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.196G>A	13.37:g.61041493G>A	ENSP00000196169:p.Glu66Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	pfam_DUF1767,pfam_Tudor,pfam_Survival_motor_neuron,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,smart_Tudor,pfscan_Tudor,pfscan_UBA/transl_elong_EF1B_N_euk	p.E159K	ENST00000196169.3	37	c.475	CCDS9441.1	13	.	.	.	.	.	.	.	.	.	.	G	20.7	4.027445	0.75390	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286;ENST00000377882	D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66	5.56	5.56	0.83823	.	0.152378	0.64402	D	0.000020	D	0.92590	0.7646	L	0.58101	1.795	0.80722	D	1	B;P;B	0.39480	0.328;0.675;0.137	B;B;B	0.33121	0.158;0.154;0.047	D	0.92356	0.5893	10	0.45353	T	0.12	-8.169	19.5233	0.95194	0.0:0.0:1.0:0.0	.	159;66;66	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	K	66;66;66;159;66	ENSP00000196169:E66K;ENSP00000367113:E66K;ENSP00000367126:E66K;ENSP00000440190:E159K	ENSP00000196169:E66K	E	+	1	0	TDRD3	59939494	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.411000	0.97342	2.604000	0.88044	0.655000	0.94253	GAG	TDRD3	-	NULL		0.353	TDRD3-201	KNOWN	basic|CCDS	protein_coding	TDRD3	HGNC	protein_coding	OTTHUMT00000045175.2	G	NM_030794		61041493	+1	no_errors	ENST00000535286	ensembl	human	known	70_37	missense	SNP	1.000	A
TDRD5	163589	genome.wustl.edu	37	1	179659947	179659947	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:179659947G>C	ENST00000367614.1	+	17	3174	c.2815G>C	c.(2815-2817)Gag>Cag	p.E939Q	TDRD5_ENST00000444136.1_Missense_Mutation_p.E993Q|TDRD5_ENST00000294848.8_Missense_Mutation_p.E939Q	NM_001199091.1	NP_001186020.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	939					DNA methylation involved in gamete generation (GO:0043046)|P granule organization (GO:0030719)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|pi-body (GO:0071546)				NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGTCTTATGAGTGCCAGAT	0.458																																																	0													75.0	73.0	74.0					1																	179659947		2203	4300	6503	SO:0001583	missense	163589			AK092142	CCDS1332.1, CCDS55663.1	1q24.2	2013-01-23			ENSG00000162782	ENSG00000162782		"""Tudor domain containing"""	20614	protein-coding gene	gene with protein product							Standard	NM_001199085		Approved	FLJ34823, TUDOR3	uc010pnp.2	Q8NAT2	OTTHUMG00000035259	ENST00000367614.1:c.2815G>C	1.37:g.179659947G>C	ENSP00000356586:p.Glu939Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4G5|B7ZLV0|Q5EBN4|Q5VTV0|Q6ZSK2	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.E993Q	ENST00000367614.1	37	c.2977	CCDS1332.1	1	.	.	.	.	.	.	.	.	.	.	G	5.702	0.314021	0.10789	.	.	ENSG00000162782	ENST00000367614;ENST00000294848;ENST00000444136;ENST00000417329	T;T;T;T	0.39056	2.31;2.31;2.41;1.1	5.17	1.01	0.19927	.	0.497879	0.20032	N	0.100695	T	0.24624	0.0597	N	0.20401	0.57	0.09310	N	1	B;B	0.18310	0.027;0.016	B;B	0.17722	0.019;0.007	T	0.15407	-1.0438	10	0.33940	T	0.23	-22.3224	8.5795	0.33619	0.0865:0.47:0.4435:0.0	.	993;939	Q8NAT2-1;Q8NAT2	.;TDRD5_HUMAN	Q	939;939;993;449	ENSP00000356586:E939Q;ENSP00000294848:E939Q;ENSP00000406052:E993Q;ENSP00000410744:E449Q	ENSP00000294848:E939Q	E	+	1	0	TDRD5	177926570	0.996000	0.38824	0.018000	0.16275	0.231000	0.25187	1.586000	0.36611	0.004000	0.14682	-0.175000	0.13238	GAG	TDRD5	-	NULL		0.458	TDRD5-002	KNOWN	basic|CCDS	protein_coding	TDRD5	HGNC	protein_coding	OTTHUMT00000085295.1	G	NM_173533		179659947	+1	no_errors	ENST00000444136	ensembl	human	known	70_37	missense	SNP	0.234	C
TDRD6	221400	genome.wustl.edu	37	6	46657139	46657139	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:46657139G>A	ENST00000316081.6	+	1	1274	c.1274G>A	c.(1273-1275)gGa>gAa	p.G425E	RP11-446F17.3_ENST00000571590.1_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.G425E|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	425					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGCCTGTATGGAGAAGATGGG	0.473																																																	0													90.0	91.0	91.0					6																	46657139		2203	4300	6503	SO:0001583	missense	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.1274G>A	6.37:g.46657139G>A	ENSP00000346065:p.Gly425Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	pfam_Tudor,smart_Tudor,pfscan_Tudor	p.G425E	ENST00000316081.6	37	c.1274	CCDS34470.1	6	.	.	.	.	.	.	.	.	.	.	G	17.08	3.297377	0.60086	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.15487	2.42;2.43	5.16	5.16	0.70880	.	0.697001	0.14488	N	0.316507	T	0.25082	0.0609	M	0.63843	1.955	0.40462	D	0.980257	D;D	0.76494	0.999;0.999	D;D	0.68621	0.959;0.911	T	0.03608	-1.1020	10	0.07990	T	0.79	-20.7407	18.4423	0.90671	0.0:0.0:1.0:0.0	.	425;425	F5H5M3;O60522	.;TDRD6_HUMAN	E	425	ENSP00000443299:G425E;ENSP00000346065:G425E	ENSP00000346065:G425E	G	+	2	0	TDRD6	46765098	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	6.097000	0.71452	2.661000	0.90470	0.655000	0.94253	GGA	TDRD6	-	NULL		0.473	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TDRD6	HGNC	protein_coding	OTTHUMT00000040800.1	G	XM_166443		46657139	+1	no_errors	ENST00000316081	ensembl	human	known	70_37	missense	SNP	1.000	A
TELO2	9894	genome.wustl.edu	37	16	1555439	1555439	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1555439C>G	ENST00000262319.6	+	16	2150	c.1871C>G	c.(1870-1872)tCt>tGt	p.S624C	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	624					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CAGGAGCTGTCTAGGCCTGGG	0.657																																																	0													36.0	41.0	40.0					16																	1555439		2199	4299	6498	SO:0001583	missense	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1871C>G	16.37:g.1555439C>G	ENSP00000262319:p.Ser624Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.S624C	ENST00000262319.6	37	c.1871	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	C	16.81	3.226012	0.58668	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.20463	2.07	5.23	5.23	0.72850	.	0.000000	0.85682	D	0.000000	T	0.50701	0.1631	M	0.80183	2.485	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	T	0.55704	-0.8099	10	0.72032	D	0.01	-20.1674	17.5618	0.87910	0.0:1.0:0.0:0.0	.	624	Q9Y4R8	TELO2_HUMAN	C	147;624	ENSP00000262319:S624C	ENSP00000262319:S624C	S	+	2	0	TELO2	1495440	1.000000	0.71417	0.997000	0.53966	0.213000	0.24496	5.949000	0.70257	2.458000	0.83093	0.455000	0.32223	TCT	TELO2	-	NULL		0.657	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	C	NM_016111		1555439	+1	no_errors	ENST00000262319	ensembl	human	known	70_37	missense	SNP	0.998	G
TELO2	9894	genome.wustl.edu	37	16	1555520	1555520	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:1555520C>G	ENST00000262319.6	+	16	2231	c.1952C>G	c.(1951-1953)tCt>tGt	p.S651C	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	651					regulation of TOR signaling (GO:0032006)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)	protein complex binding (GO:0032403)			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGCCGTCTCTCAGCCTGGC	0.672																																																	0													31.0	35.0	34.0					16																	1555520		2197	4298	6495	SO:0001583	missense	9894			AL080126	CCDS32363.1	16p13.3	2013-08-06	2013-08-06		ENSG00000100726	ENSG00000100726			29099	protein-coding gene	gene with protein product		611140	"""TEL2, telomere maintenance 2, homolog (S. cerevisiae)"""			9734811, 11230166, 12670948	Standard	NM_016111		Approved	KIAA0683, hCLK2, TEL2	uc002cly.3	Q9Y4R8	OTTHUMG00000044471	ENST00000262319.6:c.1952C>G	16.37:g.1555520C>G	ENSP00000262319:p.Ser651Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU73|O75168|Q7LDV4|Q9BR21	Missense_Mutation	SNP	pfam_Telomere_length_regulation_dom,superfamily_ARM-type_fold	p.S651C	ENST00000262319.6	37	c.1952	CCDS32363.1	16	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868412	0.32977	.	.	ENSG00000100726	ENST00000437914;ENST00000262319	T	0.17213	2.29	4.96	2.92	0.33932	.	0.654924	0.16158	N	0.226940	T	0.19644	0.0472	L	0.60455	1.87	0.09310	N	1	B	0.16396	0.017	B	0.14578	0.011	T	0.15492	-1.0435	10	0.59425	D	0.04	-1.075	12.9394	0.58333	0.0:0.6874:0.3126:0.0	.	651	Q9Y4R8	TELO2_HUMAN	C	174;651	ENSP00000262319:S651C	ENSP00000262319:S651C	S	+	2	0	TELO2	1495521	0.001000	0.12720	0.000000	0.03702	0.029000	0.11900	1.399000	0.34566	0.456000	0.26937	0.455000	0.32223	TCT	TELO2	-	NULL		0.672	TELO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TELO2	HGNC	protein_coding	OTTHUMT00000103602.2	C	NM_016111		1555520	+1	no_errors	ENST00000262319	ensembl	human	known	70_37	missense	SNP	0.004	G
TENM4	26011	genome.wustl.edu	37	11	78673251	78673251	+	Intron	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:78673251C>G	ENST00000278550.7	-	7	956					NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4						cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										GGGACAAACTCTTCCTCAGAG	0.597																																																	0																																										SO:0001627	intron_variant	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.494-58683G>C	11.37:g.78673251C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	RNA	SNP	-	NULL	ENST00000278550.7	37	NULL	CCDS44688.1	11																																																																																			TENM4	-	-		0.597	TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM4	HGNC	protein_coding	OTTHUMT00000391406.2	C			78673251	-1	no_errors	ENST00000533013	ensembl	human	known	70_37	rna	SNP	1.000	G
TEP1	7011	genome.wustl.edu	37	14	20852329	20852329	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:20852329G>A	ENST00000262715.5	-	24	3442	c.3402C>T	c.(3400-3402)ttC>ttT	p.F1134F	TEP1_ENST00000545983.1_5'Flank|TEP1_ENST00000556935.1_Silent_p.F1026F	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1134					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GCAGCTGCTGGAAGGTGGCCT	0.627																																																	0													56.0	61.0	60.0					14																	20852329		2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3402C>T	14.37:g.20852329G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F1134	ENST00000262715.5	37	c.3402	CCDS9548.1	14																																																																																			TEP1	-	NULL		0.627	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	G	NM_007110		20852329	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	silent	SNP	0.993	A
ACTRT3	84517	genome.wustl.edu	37	3	169482826	169482826	+	IGR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:169482826C>T	ENST00000330368.2	-	0	2005				TERC_ENST00000602385.1_lincRNA	NM_032487.4	NP_115876.3	Q9BYD9	ACTT3_HUMAN	actin-related protein T3							cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|male germ cell nucleus (GO:0001673)											CACCACCCCTCCCAGGCCCAC	0.647																																																	0													19.0	22.0	21.0					3																	169482826		876	1991	2867	SO:0001628	intergenic_variant	7012			AK055346	CCDS3206.1	3q26.2	2012-04-10			ENSG00000184378	ENSG00000184378			24022	protein-coding gene	gene with protein product	"""actin related protein M1"""	608534				11750065, 18692047	Standard	NM_032487		Approved	ARPM1	uc003ffs.2	Q9BYD9			3.37:g.169482826C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96IS0|Q96NJ0	RNA	SNP	-	NULL	ENST00000330368.2	37	NULL	CCDS3206.1	3																																																																																			TERC	-	-		0.647	ACTRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TERC	HGNC	protein_coding	OTTHUMT00000467797.1	C	NM_032487		169482826	-1	no_errors	ENST00000363312	ensembl	human	known	70_37	rna	SNP	0.022	T
TET1	80312	genome.wustl.edu	37	10	70332597	70332597	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:70332597G>C	ENST00000373644.4	+	2	711	c.502G>C	c.(502-504)Gat>Cat	p.D168H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	168					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AGTCCTTCCTGATATAGAGAC	0.398																																																	0													70.0	69.0	69.0					10																	70332597		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.502G>C	10.37:g.70332597G>C	ENSP00000362748:p.Asp168His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.D168H	ENST00000373644.4	37	c.502	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	7.132	0.579994	0.13686	.	.	ENSG00000138336	ENST00000373644	T	0.09723	2.95	5.24	3.34	0.38264	.	1.741330	0.03330	N	0.193188	T	0.10294	0.0252	N	0.24115	0.695	0.09310	N	1	B	0.12630	0.006	B	0.14578	0.011	T	0.33085	-0.9882	10	0.66056	D	0.02	.	7.9372	0.29937	0.0866:0.3311:0.5823:0.0	.	168	Q8NFU7	TET1_HUMAN	H	168	ENSP00000362748:D168H	ENSP00000362748:D168H	D	+	1	0	TET1	70002603	0.377000	0.25106	0.002000	0.10522	0.013000	0.08279	2.323000	0.43823	0.566000	0.29273	-0.253000	0.11424	GAT	TET1	-	NULL		0.398	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	G	NM_030625		70332597	+1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.001	C
TET1	80312	genome.wustl.edu	37	10	70441196	70441196	+	Missense_Mutation	SNP	G	G	A	rs536711369		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:70441196G>A	ENST00000373644.4	+	9	5074	c.4865G>A	c.(4864-4866)cGa>cAa	p.R1622Q		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	1622					chromatin modification (GO:0016568)|DNA demethylation (GO:0080111)|inner cell mass cell differentiation (GO:0001826)|negative regulation of methylation-dependent chromatin silencing (GO:0090310)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)|regulation of DNA methylation (GO:0044030)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	iron ion binding (GO:0005506)|methylcytosine dioxygenase activity (GO:0070579)|structure-specific DNA binding (GO:0043566)|zinc ion binding (GO:0008270)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						TTGGCTACACGATTAGCTCCA	0.333													G|||	1	0.000199681	0.0	0.0	5008	,	,		18613	0.0		0.0	False		,,,				2504	0.001																0													85.0	85.0	85.0					10																	70441196		2203	4300	6503	SO:0001583	missense	80312			AF430147	CCDS7281.1	10q21	2014-02-18	2011-09-30	2008-03-12	ENSG00000138336	ENSG00000138336			29484	protein-coding gene	gene with protein product	"""leukemia-associated protein with a CXXC domain"", ""ten-eleven translocation-1"""	607790	"""CXXC zinc finger 6"", ""tet oncogene 1"""	CXXC6		12124344, 12646957	Standard	NM_030625		Approved	LCX, KIAA1676, bA119F7.1	uc001jok.4	Q8NFU7	OTTHUMG00000018359	ENST00000373644.4:c.4865G>A	10.37:g.70441196G>A	ENSP00000362748:p.Arg1622Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUP7|Q7Z6B6|Q8TCR1|Q9C0I7	Missense_Mutation	SNP	pfam_Znf_CXXC,pfscan_Znf_CXXC	p.R1622Q	ENST00000373644.4	37	c.4865	CCDS7281.1	10	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368102	0.24771	.	.	ENSG00000138336	ENST00000373644	T	0.11604	2.76	5.45	-0.795	0.10915	TET cysteine-rich domain (1);	4.046880	0.00357	N	0.000027	T	0.06371	0.0164	N	0.14661	0.345	0.09310	N	1	P	0.35600	0.511	B	0.33568	0.166	T	0.17137	-1.0379	10	0.27082	T	0.32	.	3.7216	0.08459	0.3816:0.0:0.3391:0.2793	.	1622	Q8NFU7	TET1_HUMAN	Q	1622	ENSP00000362748:R1622Q	ENSP00000362748:R1622Q	R	+	2	0	TET1	70111202	0.000000	0.05858	0.139000	0.22197	0.972000	0.66771	0.459000	0.21908	-0.442000	0.07190	-0.262000	0.10625	CGA	TET1	-	NULL		0.333	TET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TET1	HGNC	protein_coding	OTTHUMT00000048354.1	G	NM_030625		70441196	+1	no_errors	ENST00000373644	ensembl	human	known	70_37	missense	SNP	0.002	A
TEX13B	56156	genome.wustl.edu	37	X	107225195	107225195	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:107225195C>A	ENST00000302917.1	-	2	255	c.163G>T	c.(163-165)Gag>Tag	p.E55*		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	55										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						TCGCTGTCCTCCAGGATGGCC	0.592																																																	0													101.0	92.0	95.0					X																	107225195		2199	4300	6499	SO:0001587	stop_gained	56156			AF285598	CCDS14534.1	Xq23	2008-02-05	2007-03-13		ENSG00000170925	ENSG00000170925			11736	protein-coding gene	gene with protein product		300313	"""testis expressed sequence 13B"""			11279525	Standard	NM_031273		Approved	TSGA5, TGC3B	uc004enn.1	Q9BXU2	OTTHUMG00000022174	ENST00000302917.1:c.163G>T	X.37:g.107225195C>A	ENSP00000303777:p.Glu55*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYF6	Nonsense_Mutation	SNP	NULL	p.E55*	ENST00000302917.1	37	c.163	CCDS14534.1	X	.	.	.	.	.	.	.	.	.	.	C	15.98	2.994025	0.54041	.	.	ENSG00000170925	ENST00000302917	.	.	.	2.96	2.08	0.27032	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	.	5.1769	0.15139	0.0:0.8314:0.0:0.1686	.	.	.	.	X	55	.	ENSP00000303777:E55X	E	-	1	0	TEX13B	107111851	0.770000	0.28543	0.011000	0.14972	0.064000	0.16182	0.926000	0.28804	0.640000	0.30582	0.523000	0.50628	GAG	TEX13B	-	NULL		0.592	TEX13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX13B	HGNC	protein_coding	OTTHUMT00000057857.1	C			107225195	-1	no_errors	ENST00000302917	ensembl	human	known	70_37	nonsense	SNP	0.010	A
TFAP2D	83741	genome.wustl.edu	37	6	50740508	50740508	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:50740508G>A	ENST00000008391.3	+	8	1518	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S		NM_172238.3	NP_758438.2			transcription factor AP-2 delta (activating enhancer binding protein 2 delta)											NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					ATGCCAACTCGGAGAAAGCTC	0.478																																																	0													59.0	55.0	56.0					6																	50740508		2203	4300	6503	SO:0001819	synonymous_variant	83741			AY028376	CCDS4933.1	6p12.3	2008-02-05	2004-10-26	2004-10-27		ENSG00000008197			15581	protein-coding gene	gene with protein product		610161	"""transcription factor AP-2 beta (activating enhancer-binding protein 2 beta)-like 1"""	TFAP2BL1		11733187	Standard	NM_172238		Approved		uc003paf.3	Q7Z6R9		ENST00000008391.3:c.1290G>A	6.37:g.50740508G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_TF_AP2_C,prints_TF_AP2_C	p.S430	ENST00000008391.3	37	c.1290	CCDS4933.1	6																																																																																			TFAP2D	-	NULL		0.478	TFAP2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFAP2D	HGNC	protein_coding	OTTHUMT00000040881.1	G	NM_172238		50740508	+1	no_errors	ENST00000008391	ensembl	human	known	70_37	silent	SNP	0.991	A
TG	7038	genome.wustl.edu	37	8	134146988	134146988	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:134146988G>A	ENST00000220616.4	+	48	8297	c.8257G>A	c.(8257-8259)Gaa>Aaa	p.E2753K	TG_ENST00000519543.1_Missense_Mutation_p.E886K|TG_ENST00000377869.1_Missense_Mutation_p.E2696K|TG_ENST00000542445.1_Missense_Mutation_p.E1123K	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2753					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGGGCTAAGAGAAGATCTCCT	0.567																																																	0													107.0	92.0	97.0					8																	134146988		2203	4300	6503	SO:0001583	missense	7038			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.8257G>A	8.37:g.134146988G>A	ENSP00000220616:p.Glu2753Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.E2753K	ENST00000220616.4	37	c.8257	CCDS34944.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.96|12.96	2.094055|2.094055	0.36952|0.36952	.|.	.|.	ENSG00000042832|ENSG00000042832	ENST00000377869;ENST00000543313;ENST00000220616;ENST00000535932;ENST00000542445;ENST00000519543;ENST00000521107|ENST00000519178	T;T;T;T;T|T	0.69175|0.65732	-0.15;-0.15;-0.38;-0.38;0.76|-0.17	4.22|4.22	2.19|2.19	0.27852|0.27852	.|.	2.609560|.	0.01393|.	N|.	0.013328|.	T|T	0.51601|0.51601	0.1684|0.1684	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B;B|.	0.34103|.	0.437;0.4;0.437|.	B;B;B|.	0.30855|.	0.079;0.121;0.079|.	T|T	0.41680|0.41680	-0.9495|-0.9495	10|6	0.62326|.	D|.	0.03|.	.|.	9.8872|9.8872	0.41268|0.41268	0.0:0.4095:0.5905:0.0|0.0:0.4095:0.5905:0.0	.|.	886;1123;2753|.	E7EVM0;F5GWW5;P01266|.	.;.;THYG_HUMAN|.	K|K	2696;1559;2753;872;1123;886;157|1208	ENSP00000367100:E2696K;ENSP00000220616:E2753K;ENSP00000441693:E1123K;ENSP00000430430:E886K;ENSP00000430161:E157K|ENSP00000430523:R1208K	ENSP00000220616:E2753K|.	E|R	+|+	1|2	0|0	TG|TG	134216170|134216170	0.012000|0.012000	0.17670|0.17670	0.012000|0.012000	0.15200|0.15200	0.066000|0.066000	0.16364|0.16364	1.070000|1.070000	0.30653|0.30653	1.084000|1.084000	0.41184|0.41184	0.313000|0.313000	0.20887|0.20887	GAA|AGA	TG	-	pirsf_Thyroglobulin		0.567	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	G	NM_003235		134146988	+1	no_errors	ENST00000220616	ensembl	human	known	70_37	missense	SNP	0.002	A
TGM4	7047	genome.wustl.edu	37	3	44935068	44935068	+	Splice_Site	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:44935068G>C	ENST00000296125.4	+	5	498		c.e5-1			NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4						mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TCTTGCTTCAGAGGACATGGT	0.522																																																	0													104.0	94.0	97.0					3																	44935068		2203	4300	6503	SO:0001630	splice_region_variant	7047			BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.431-1G>C	3.37:g.44935068G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16707|Q96QN4	Splice_Site	SNP	-	e5-1	ENST00000296125.4	37	c.431-1	CCDS2723.1	3	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932880	0.73442	.	.	ENSG00000163810	ENST00000296125	.	.	.	2.11	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.435	0.55595	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	TGM4	44910072	1.000000	0.71417	0.827000	0.32855	0.780000	0.44128	7.000000	0.76290	1.094000	0.41399	0.467000	0.42956	.	TGM4	-	-		0.522	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM4	HGNC	protein_coding	OTTHUMT00000256755.2	G	NM_003241	Intron	44935068	+1	no_errors	ENST00000296125	ensembl	human	known	70_37	splice_site	SNP	0.999	C
THAP7	80764	genome.wustl.edu	37	22	21356609	21356609	+	5'Flank	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:21356609C>G	ENST00000215742.4	-	0	0				THAP7-AS1_ENST00000436079.1_RNA|THAP7-AS1_ENST00000429962.1_RNA|THAP7-AS1_ENST00000452284.1_RNA|THAP7_ENST00000399133.2_5'Flank	NM_030573.2	NP_085050.2	Q9BT49	THAP7_HUMAN	THAP domain containing 7						negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nuclear speck (GO:0016607)	C2H2 zinc finger domain binding (GO:0070742)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)			cervix(1)|lung(2)|prostate(3)|skin(1)|stomach(1)	8	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TTCGTCCGCTCAGGCCTCACT	0.662																																																	0																																										SO:0001631	upstream_gene_variant	439931			BC004346	CCDS13787.1	22q11.2	2013-01-25			ENSG00000184436	ENSG00000184436		"""THAP (C2CH-type zinc finger) domain containing"""	23190	protein-coding gene	gene with protein product		609518				12575992	Standard	NM_030573		Approved	MGC10963	uc002ztr.1	Q9BT49	OTTHUMG00000150879		22.37:g.21356609C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD97|D3DX40	RNA	SNP	-	NULL	ENST00000215742.4	37	NULL	CCDS13787.1	22																																																																																			THAP7-AS1	-	-		0.662	THAP7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP7-AS1	HGNC	protein_coding	OTTHUMT00000320405.1	C	NM_030573		21356609	+1	no_errors	ENST00000429962	ensembl	human	known	70_37	rna	SNP	0.000	G
THAP9	79725	genome.wustl.edu	37	4	83827476	83827476	+	Splice_Site	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:83827476G>A	ENST00000302236.5	+	3	327		c.e3-1			NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9						DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATCTGTCATAGATTCCTCAAG	0.323																																																	0													63.0	65.0	64.0					4																	83827476		2203	4299	6502	SO:0001630	splice_region_variant	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.277-1G>A	4.37:g.83827476G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRE2|Q59AC9	Splice_Site	SNP	-	e3-1	ENST00000302236.5	37	c.277-1	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	8.097	0.775746	0.16051	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	.	.	.	3.73	3.73	0.42828	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.3242	0.49440	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	THAP9	84046500	1.000000	0.71417	0.616000	0.29078	0.344000	0.29017	3.867000	0.56047	2.371000	0.80710	0.591000	0.81541	.	THAP9	-	-		0.323	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672	Intron	83827476	+1	no_errors	ENST00000302236	ensembl	human	known	70_37	splice_site	SNP	0.748	A
THAP9	79725	genome.wustl.edu	37	4	83827621	83827621	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:83827621G>C	ENST00000302236.5	+	3	472	c.421G>C	c.(421-423)Gag>Cag	p.E141Q		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	141					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GAAACTGGCTGAGGTGCAACA	0.388																																																	0													107.0	101.0	103.0					4																	83827621		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.421G>C	4.37:g.83827621G>C	ENSP00000305533:p.Glu141Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E141Q	ENST00000302236.5	37	c.421	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	15.03	2.713588	0.48517	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.39406	1.08	3.73	3.73	0.42828	.	0.960887	0.08558	N	0.927867	T	0.48295	0.1492	N	0.22421	0.69	0.27632	N	0.948005	D	0.71674	0.998	D	0.75484	0.986	T	0.36866	-0.9730	10	0.20519	T	0.43	-18.3357	11.3242	0.49440	0.0:0.0:1.0:0.0	.	141	Q9H5L6	THAP9_HUMAN	Q	141	ENSP00000305533:E141Q	ENSP00000305533:E141Q	E	+	1	0	THAP9	84046645	0.997000	0.39634	0.998000	0.56505	0.985000	0.73830	3.755000	0.55197	2.371000	0.80710	0.591000	0.81541	GAG	THAP9	-	NULL		0.388	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672		83827621	+1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	0.998	C
THAP9	79725	genome.wustl.edu	37	4	83827747	83827747	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:83827747G>A	ENST00000302236.5	+	3	598	c.547G>A	c.(547-549)Gaa>Aaa	p.E183K		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	183					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ACTTTCTGAAGAAACAGAGTG	0.353																																																	0													58.0	60.0	59.0					4																	83827747		2203	4300	6503	SO:0001583	missense	79725			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.547G>A	4.37:g.83827747G>A	ENSP00000305533:p.Glu183Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.E183K	ENST00000302236.5	37	c.547	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	G	16.62	3.173064	0.57584	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.40476	1.03	3.87	3.87	0.44632	.	0.285900	0.25316	N	0.031545	T	0.42988	0.1227	L	0.27053	0.805	0.30366	N	0.783303	D	0.63880	0.993	D	0.70227	0.968	T	0.15178	-1.0446	10	0.06494	T	0.89	-24.9607	11.6369	0.51209	0.0:0.0:1.0:0.0	.	183	Q9H5L6	THAP9_HUMAN	K	183	ENSP00000305533:E183K	ENSP00000305533:E183K	E	+	1	0	THAP9	84046771	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.989000	0.56958	2.459000	0.83118	0.591000	0.81541	GAA	THAP9	-	NULL		0.353	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1	G	NM_024672		83827747	+1	no_errors	ENST00000302236	ensembl	human	known	70_37	missense	SNP	1.000	A
THOC2	57187	genome.wustl.edu	37	X	122778431	122778431	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:122778431G>C	ENST00000245838.8	-	15	1687	c.1656C>G	c.(1654-1656)atC>atG	p.I552M	THOC2_ENST00000491737.1_Missense_Mutation_p.I437M|THOC2_ENST00000355725.4_Missense_Mutation_p.I552M	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	552					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|poly(A)+ mRNA export from nucleus (GO:0016973)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTACTTCATGATATATTTGG	0.303																																																	0													68.0	56.0	60.0					X																	122778431		1789	4054	5843	SO:0001583	missense	57187			AF441770	CCDS43988.1	Xq25-q26.3	2013-02-11	2004-08-09		ENSG00000125676	ENSG00000125676		"""THO complex subunits"""	19073	protein-coding gene	gene with protein product		300395	"""chromosome X open reading frame 3"""	CXorf3		11979277	Standard	NM_001081550		Approved	THO2, dJ506G2.1	uc004etu.3	Q8NI27	OTTHUMG00000022334	ENST00000245838.8:c.1656C>G	X.37:g.122778431G>C	ENSP00000245838:p.Ile552Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NM50|Q5JZ12|Q6IN92|Q9H8I6	Missense_Mutation	SNP	pfam_THO_THOC2_C,pfam_THO_THOC2_N	p.I552M	ENST00000245838.8	37	c.1656	CCDS43988.1	X	.	.	.	.	.	.	.	.	.	.	G	15.63	2.889939	0.52014	.	.	ENSG00000125676	ENST00000245838;ENST00000355725;ENST00000491737;ENST00000408933	.	.	.	5.84	3.91	0.45181	.	0.000000	0.64402	D	0.000004	T	0.78848	0.4348	M	0.86953	2.85	0.58432	D	0.999998	P;D	0.63880	0.747;0.993	B;D	0.66351	0.34;0.943	T	0.81686	-0.0820	9	0.66056	D	0.02	-6.5204	11.3751	0.49724	0.0785:0.0:0.7374:0.1841	.	473;552	B4DKZ6;Q8NI27	.;THOC2_HUMAN	M	552;552;437;473	.	ENSP00000245838:I552M	I	-	3	3	THOC2	122606112	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	0.755000	0.26405	1.209000	0.43321	0.513000	0.50165	ATC	THOC2	-	NULL		0.303	THOC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC2	HGNC	protein_coding	OTTHUMT00000058153.3	G			122778431	-1	no_errors	ENST00000245838	ensembl	human	known	70_37	missense	SNP	1.000	C
THOC3	84321	genome.wustl.edu	37	5	175395007	175395007	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:175395007G>A	ENST00000265097.4	-	1	295	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	THOC3_ENST00000510300.1_5'Flank|THOC3_ENST00000513482.1_Missense_Mutation_p.R69C|THOC3_ENST00000514861.1_Intron	NM_032361.2	NP_115737.1	Q96J01	THOC3_HUMAN	THO complex 3	69					mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|RNA splicing (GO:0008380)|viral mRNA export from host cell nucleus (GO:0046784)	THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	RNA binding (GO:0003723)			endometrium(1)|kidney(1)|large_intestine(2)	4	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		GAGGCTAGGCGACGCCCGTCG	0.677																																																	0													10.0	12.0	11.0					5																	175395007		1940	3878	5818	SO:0001583	missense	84321			BC006849	CCDS4397.1	5q35.3	2013-02-11			ENSG00000051596	ENSG00000051596		"""WD repeat domain containing"", ""THO complex subunits"""	19072	protein-coding gene	gene with protein product		606929				11979277	Standard	NM_032361		Approved	TEX1, MGC5469	uc003mdg.5	Q96J01	OTTHUMG00000130658	ENST00000265097.4:c.205C>T	5.37:g.175395007G>A	ENSP00000265097:p.Arg69Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NZ53	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,pfam_PD40,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R69C	ENST00000265097.4	37	c.205	CCDS4397.1	5	.	.	.	.	.	.	.	.	.	.	G	24.8	4.571384	0.86542	.	.	ENSG00000051596	ENST00000265097;ENST00000513482	T;T	0.60672	0.17;0.17	4.07	4.07	0.47477	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.064549	0.64402	D	0.000008	T	0.67942	0.2947	L	0.52573	1.65	0.80722	D	1	D;D	0.76494	0.999;0.997	D;P	0.65140	0.932;0.863	T	0.68100	-0.5498	10	0.39692	T	0.17	-12.0637	15.4334	0.75121	0.0:0.0:1.0:0.0	.	69;69	Q6NZ53;Q96J01	.;THOC3_HUMAN	C	69	ENSP00000265097:R69C;ENSP00000422243:R69C	ENSP00000265097:R69C	R	-	1	0	THOC3	175327613	1.000000	0.71417	1.000000	0.80357	0.919000	0.55068	3.315000	0.51951	2.085000	0.62840	0.511000	0.50034	CGC	THOC3	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.677	THOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC3	HGNC	protein_coding	OTTHUMT00000253148.1	G			175395007	-1	no_errors	ENST00000265097	ensembl	human	known	70_37	missense	SNP	1.000	A
THSD7A	221981	genome.wustl.edu	37	7	11521436	11521436	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:11521436G>C	ENST00000423059.4	-	7	2247	c.1996C>G	c.(1996-1998)Ctg>Gtg	p.L666V	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	666	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GCATAGGCCAGAATGGATCGT	0.498										HNSCC(18;0.044)																																							0													126.0	123.0	124.0					7																	11521436		2145	4251	6396	SO:0001583	missense	221981				CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.1996C>G	7.37:g.11521436G>C	ENSP00000406482:p.Leu666Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt	p.L666V	ENST00000423059.4	37	c.1996	CCDS47543.1	7	.	.	.	.	.	.	.	.	.	.	G	19.13	3.767975	0.69878	.	.	ENSG00000005108	ENST00000262042;ENST00000423059	T	0.50813	0.73	6.17	3.16	0.36331	.	0.000000	0.85682	D	0.000000	T	0.56688	0.2002	L	0.54863	1.705	0.53688	D	0.999973	D	0.65815	0.995	D	0.67382	0.951	T	0.49908	-0.8889	10	0.16420	T	0.52	.	10.9439	0.47289	0.2679:0.0:0.7321:0.0	.	666	Q9UPZ6	THS7A_HUMAN	V	666	ENSP00000406482:L666V	ENSP00000262042:L666V	L	-	1	2	THSD7A	11487961	0.998000	0.40836	0.991000	0.47740	0.931000	0.56810	1.949000	0.40313	0.375000	0.24679	-0.137000	0.14449	CTG	THSD7A	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.498	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THSD7A	HGNC	protein_coding	OTTHUMT00000325944.4	G	XM_928187.2		11521436	-1	no_errors	ENST00000423059	ensembl	human	known	70_37	missense	SNP	1.000	C
THYN1	29087	genome.wustl.edu	37	11	134118818	134118818	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:134118818G>A	ENST00000341541.3	-	6	977	c.516C>T	c.(514-516)ttC>ttT	p.F172F	THYN1_ENST00000392595.2_Silent_p.F172F|THYN1_ENST00000392594.3_Silent_p.F172F|THYN1_ENST00000352327.5_Intron|THYN1_ENST00000525677.1_5'Flank	NM_014174.2	NP_054893.1	Q9P016	THYN1_HUMAN	thymocyte nuclear protein 1	172						nucleus (GO:0005634)				endometrium(2)|kidney(1)|lung(3)|pancreas(1)	7	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;1.68e-10)|all cancers(11;1.95e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00148)|Lung(977;0.207)		CCAGGGGAATGAAACGTTTCA	0.438																																																	0													127.0	122.0	124.0					11																	134118818		2201	4297	6498	SO:0001819	synonymous_variant	29087			BC006978	CCDS8496.1, CCDS8497.1	11q25	2006-02-09			ENSG00000151500	ENSG00000151500			29560	protein-coding gene	gene with protein product		613739				14601557, 12384300	Standard	NM_014174		Approved	THY28	uc001qhg.3	Q9P016	OTTHUMG00000167176	ENST00000341541.3:c.516C>T	11.37:g.134118818G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q567Q2|Q9H3L4|Q9HC20	Silent	SNP	pfam_EVE_domain,superfamily_PUA-like_domain	p.F172	ENST00000341541.3	37	c.516	CCDS8496.1	11																																																																																			THYN1	-	pfam_EVE_domain,superfamily_PUA-like_domain		0.438	THYN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THYN1	HGNC	protein_coding	OTTHUMT00000393599.1	G	NM_014174		134118818	-1	no_errors	ENST00000341541	ensembl	human	known	70_37	silent	SNP	1.000	A
TICAM1	148022	genome.wustl.edu	37	19	4816833	4816833	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4816833G>A	ENST00000248244.5	-	2	1786	c.1557C>T	c.(1555-1557)atC>atT	p.I519I		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	519	Sufficient to induce apoptosis.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TCCTGGCGAAGATCTGGGAGT	0.657																																																	0													44.0	36.0	39.0					19																	4816833		2203	4300	6503	SO:0001819	synonymous_variant	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1557C>T	19.37:g.4816833G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.I519	ENST00000248244.5	37	c.1557	CCDS12136.1	19																																																																																			TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.657	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4816833	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	silent	SNP	0.960	A
TICAM1	148022	genome.wustl.edu	37	19	4817190	4817190	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4817190G>C	ENST00000248244.5	-	2	1429	c.1200C>G	c.(1198-1200)ctC>ctG	p.L400L		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	400	TIR.				apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CCCTGGCGTGGAGGATCACAA	0.582																																																	0													41.0	42.0	42.0					19																	4817190		2203	4300	6503	SO:0001819	synonymous_variant	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.1200C>G	19.37:g.4817190G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y691|O75532|Q86XP8|Q96GA0	Silent	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.L400	ENST00000248244.5	37	c.1200	CCDS12136.1	19																																																																																			TICAM1	-	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.582	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4817190	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	silent	SNP	0.969	C
TICAM1	148022	genome.wustl.edu	37	19	4817906	4817906	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:4817906G>C	ENST00000248244.5	-	2	713	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	162				L -> S (in Ref. 6; AAO85488). {ECO:0000305}.	apoptotic signaling pathway (GO:0097190)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|macrophage activation involved in immune response (GO:0002281)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of natural killer cell activation (GO:0032816)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of protein binding (GO:0032092)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type I interferon production (GO:0032481)|regulation of protein homodimerization activity (GO:0043496)|response to exogenous dsRNA (GO:0043330)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|ripoptosome (GO:0097342)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		AGGCAGCCCAGATTGGACTGG	0.657																																																	0													95.0	94.0	94.0					19																	4817906		2203	4300	6503	SO:0001583	missense	148022			AB086380	CCDS12136.1	19p13.3	2014-09-17				ENSG00000127666			18348	protein-coding gene	gene with protein product		607601				12539043, 12471095	Standard	NM_182919		Approved	TRIF, TICAM-1, MGC35334, PRVTIRB	uc002mbi.4	Q8IUC6		ENST00000248244.5:c.484C>G	19.37:g.4817906G>C	ENSP00000248244:p.Leu162Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y691|O75532|Q86XP8|Q96GA0	Missense_Mutation	SNP	superfamily_TIR_dom,pirsf_Tol-interleuk_rcpt_adapt_Ticam	p.L162V	ENST00000248244.5	37	c.484	CCDS12136.1	19	.	.	.	.	.	.	.	.	.	.	g	8.429	0.848165	0.17034	.	.	ENSG00000127666	ENST00000248244	T	0.46819	0.86	4.66	-0.475	0.12104	.	2.606920	0.02314	N	0.072425	T	0.32882	0.0844	L	0.28274	0.84	0.09310	N	1	B	0.12013	0.005	B	0.11329	0.006	T	0.11991	-1.0565	10	0.14252	T	0.57	-0.2065	6.6336	0.22872	0.0:0.2504:0.3308:0.4188	.	162	Q8IUC6	TCAM1_HUMAN	V	162	ENSP00000248244:L162V	ENSP00000248244:L162V	L	-	1	2	TICAM1	4768906	0.000000	0.05858	0.000000	0.03702	0.172000	0.22775	0.160000	0.16462	0.460000	0.27045	0.305000	0.20034	CTG	TICAM1	-	pirsf_Tol-interleuk_rcpt_adapt_Ticam		0.657	TICAM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TICAM1	HGNC	protein_coding	OTTHUMT00000450435.1	G	NM_014261		4817906	-1	no_errors	ENST00000248244	ensembl	human	known	70_37	missense	SNP	0.000	C
TICRR	90381	genome.wustl.edu	37	15	90167565	90167565	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:90167565G>A	ENST00000268138.7	+	20	4129	c.4024G>A	c.(4024-4026)Gag>Aag	p.E1342K	TICRR_ENST00000560985.1_Missense_Mutation_p.E1341K|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1342	Pro-rich.				cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGATCAGAAAGAGCCCCAGAT	0.493																																																	0													99.0	104.0	102.0					15																	90167565		2200	4299	6499	SO:0001583	missense	90381			AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4024G>A	15.37:g.90167565G>A	ENSP00000268138:p.Glu1342Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	NULL	p.E1342K	ENST00000268138.7	37	c.4024	CCDS10352.2	15	.	.	.	.	.	.	.	.	.	.	G	9.198	1.027863	0.19512	.	.	ENSG00000140534	ENST00000268138	T	0.09073	3.02	4.59	3.65	0.41850	.	0.598906	0.15160	N	0.277232	T	0.05318	0.0141	L	0.32530	0.975	0.09310	N	0.999997	P	0.46512	0.879	B	0.38500	0.275	T	0.13415	-1.0510	10	0.07482	T	0.82	-3.4706	8.5792	0.33617	0.088:0.1557:0.7563:0.0	.	1342	Q7Z2Z1	TICRR_HUMAN	K	1342	ENSP00000268138:E1342K	ENSP00000268138:E1342K	E	+	1	0	C15orf42	87968569	0.000000	0.05858	0.045000	0.18777	0.086000	0.17979	0.339000	0.19875	2.243000	0.73865	0.655000	0.94253	GAG	TICRR	-	NULL		0.493	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TICRR	HGNC	protein_coding	OTTHUMT00000312856.1	G	NM_152259		90167565	+1	no_errors	ENST00000268138	ensembl	human	known	70_37	missense	SNP	0.004	A
TIGD7	91151	genome.wustl.edu	37	16	3349537	3349537	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3349537C>T	ENST00000396862.1	-	2	2906	c.1078G>A	c.(1078-1080)Gag>Aag	p.E360K	TIGD7_ENST00000268674.2_Missense_Mutation_p.E360K|TIGD7_ENST00000574598.1_5'Flank	NM_033208.3	NP_149985.2	Q6NT04	TIGD7_HUMAN	tigger transposable element derived 7	360	DDE.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TTCTCTTGCTCATCATCACTT	0.338																																																	0													59.0	63.0	61.0					16																	3349537		2197	4298	6495	SO:0001583	missense	91151			AF251050	CCDS10500.1	16p13.11	2008-02-05			ENSG00000140993	ENSG00000140993			18331	protein-coding gene	gene with protein product		612969					Standard	NM_033208		Approved	Sancho	uc002cus.3	Q6NT04	OTTHUMG00000129325	ENST00000396862.1:c.1078G>A	16.37:g.3349537C>T	ENSP00000380071:p.Glu360Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXZ0	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.E360K	ENST00000396862.1	37	c.1078	CCDS10500.1	16	.	.	.	.	.	.	.	.	.	.	C	11.91	1.779248	0.31502	.	.	ENSG00000140993	ENST00000426381;ENST00000396862;ENST00000268674	T;T	0.34667	1.35;1.35	4.85	4.85	0.62838	.	0.000000	0.40302	U	0.001123	T	0.47985	0.1475	L	0.50333	1.59	0.32733	N	0.508695	D	0.69078	0.997	D	0.79108	0.992	T	0.45804	-0.9236	10	0.06891	T	0.86	.	13.471	0.61281	0.0:1.0:0.0:0.0	.	360	Q6NT04	TIGD7_HUMAN	K	360	ENSP00000380071:E360K;ENSP00000268674:E360K	ENSP00000268674:E360K	E	-	1	0	TIGD7	3289538	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.266000	0.43320	2.249000	0.74217	0.655000	0.94253	GAG	TIGD7	-	pfam_DDE_SF_endonuclease_CENPB-like		0.338	TIGD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD7	HGNC	protein_coding	OTTHUMT00000251465.1	C	NM_033208		3349537	-1	no_errors	ENST00000268674	ensembl	human	known	70_37	missense	SNP	1.000	T
TKT	7086	genome.wustl.edu	37	3	53262157	53262157	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:53262157C>G	ENST00000462138.1	-	12	1576	c.1488G>C	c.(1486-1488)ctG>ctC	p.L496L	TKT_ENST00000423525.2_Silent_p.L496L|TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423516.1_Silent_p.L504L|TKT_ENST00000296289.6_Silent_p.L449L			P29401	TKT_HUMAN	transketolase	496					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|glyceraldehyde-3-phosphate biosynthetic process (GO:0046166)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|regulation of growth (GO:0040008)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|peroxisome (GO:0005777)|vesicle (GO:0031982)	cofactor binding (GO:0048037)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|transketolase activity (GO:0004802)			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)		CCTTGCTCTTCAGGACCACCT	0.647																																					Colon(133;1506 2347 35238 42177)												0													70.0	66.0	67.0					3																	53262157		2203	4300	6503	SO:0001819	synonymous_variant	7086				CCDS2871.1, CCDS58834.1	3p14.3	2008-07-31	2008-07-31		ENSG00000163931	ENSG00000163931	2.2.1.1		11834	protein-coding gene	gene with protein product	"""Wernicke-Korsakoff syndrome"""	606781				1567394	Standard	NM_001064		Approved		uc011beq.2	P29401	OTTHUMG00000158192	ENST00000462138.1:c.1488G>C	3.37:g.53262157C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K089|B4DE31|E7EPA7|Q8TBA3|Q96HH3	Silent	SNP	pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd	p.L496	ENST00000462138.1	37	c.1488	CCDS2871.1	3																																																																																			TKT	-	pfam_Transketolase_C,superfamily_Transketo_C/Pyr-ferredox_oxred		0.647	TKT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TKT	HGNC	protein_coding	OTTHUMT00000350356.1	C			53262157	-1	no_errors	ENST00000423525	ensembl	human	known	70_37	silent	SNP	1.000	G
TLL2	7093	genome.wustl.edu	37	10	98182458	98182458	+	Missense_Mutation	SNP	C	C	T	rs545429177		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:98182458C>T	ENST00000357947.3	-	6	890	c.665G>A	c.(664-666)gGa>gAa	p.G222E	TLL2_ENST00000469598.1_5'UTR	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	222	Metalloprotease. {ECO:0000250}.				cell differentiation (GO:0030154)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TGGGCCTCCTCCTCGGCGCCC	0.557																																																	0													125.0	100.0	109.0					10																	98182458		2203	4300	6503	SO:0001583	missense	7093			AF059516	CCDS7449.1	10q23-q24	2008-07-29			ENSG00000095587	ENSG00000095587			11844	protein-coding gene	gene with protein product		606743				10516436	Standard	NM_012465		Approved		uc001kml.2	Q9Y6L7	OTTHUMG00000018833	ENST00000357947.3:c.665G>A	10.37:g.98182458C>T	ENSP00000350630:p.Gly222Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDK0|Q2M1H1|Q6PJN5|Q9UQ00	Missense_Mutation	SNP	pfam_CUB,pfam_Peptidase_M12A,pfam_EGF-like_Ca-bd,superfamily_CUB,smart_Peptidase_Metallo,smart_CUB,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_BMP_1/tolloid-like,pfscan_CUB,pfscan_EG-like_dom,prints_Peptidase_M12A	p.G222E	ENST00000357947.3	37	c.665	CCDS7449.1	10	.	.	.	.	.	.	.	.	.	.	C	26.7	4.759056	0.89843	.	.	ENSG00000095587	ENST00000357947	T	0.67865	-0.29	5.64	4.74	0.60224	Peptidase, metallopeptidase (1);Peptidase M12A, astacin (1);Metallopeptidase, catalytic domain (1);	0.000000	0.44688	D	0.000424	T	0.76969	0.4062	M	0.93898	3.47	0.80722	D	1	B	0.33857	0.429	B	0.37422	0.249	T	0.80939	-0.1158	10	0.87932	D	0	.	13.8157	0.63290	0.0:0.9265:0.0:0.0735	.	222	Q9Y6L7	TLL2_HUMAN	E	222	ENSP00000350630:G222E	ENSP00000350630:G222E	G	-	2	0	TLL2	98172448	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.814000	0.86154	1.383000	0.46405	0.655000	0.94253	GGA	TLL2	-	pfam_Peptidase_M12A,smart_Peptidase_Metallo,pirsf_BMP_1/tolloid-like		0.557	TLL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TLL2	HGNC	protein_coding	OTTHUMT00000049608.1	C			98182458	-1	no_errors	ENST00000357947	ensembl	human	known	70_37	missense	SNP	1.000	T
TLR8	51311	genome.wustl.edu	37	X	12937373	12937373	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:12937373G>C	ENST00000218032.6	+	2	301	c.214G>C	c.(214-216)Gat>Cat	p.D72H	TLR8_ENST00000311912.5_Missense_Mutation_p.D90H	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	72					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|immunoglobulin mediated immune response (GO:0016064)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|regulation of cytokine secretion (GO:0050707)|response to virus (GO:0009615)|toll-like receptor 8 signaling pathway (GO:0034158)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	endolysosome membrane (GO:0036020)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50					Imiquimod(DB00724)	AGACCTGTCTGATAATTTCAT	0.413																																																	0													105.0	98.0	100.0					X																	12937373		2203	4300	6503	SO:0001583	missense	51311			AF246971	CCDS14152.1, CCDS14153.1	Xp22	2009-11-23			ENSG00000101916	ENSG00000101916		"""CD molecules"""	15632	protein-coding gene	gene with protein product		300366				11022119	Standard	NM_138636		Approved	CD288	uc004cve.3	Q9NR97	OTTHUMG00000021145	ENST00000218032.6:c.214G>C	X.37:g.12937373G>C	ENSP00000218032:p.Asp72His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3Y654|D1CS70|D1CS76|Q495P4|Q6UXL6|Q9NYG9	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_TIR_dom,superfamily_TIR_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_TIR_dom,pfscan_TIR_dom	p.D72H	ENST00000218032.6	37	c.214	CCDS14152.1	X	.	.	.	.	.	.	.	.	.	.	G	0.056	-1.236536	0.01505	.	.	ENSG00000101916	ENST00000218032;ENST00000311912	T;T	0.41400	1.0;1.0	5.31	0.845	0.18950	.	1.081360	0.07291	N	0.872516	T	0.23370	0.0565	N	0.16233	0.39	0.09310	N	1	B;B	0.19331	0.035;0.035	B;B	0.24701	0.055;0.055	T	0.28364	-1.0046	10	0.24483	T	0.36	.	1.4165	0.02302	0.1944:0.1125:0.3109:0.3822	.	72;90	Q9NR97;D1CS70	TLR8_HUMAN;.	H	72;90	ENSP00000218032:D72H;ENSP00000312082:D90H	ENSP00000218032:D72H	D	+	1	0	TLR8	12847294	0.000000	0.05858	0.002000	0.10522	0.192000	0.23643	0.112000	0.15479	0.096000	0.17463	-0.365000	0.07479	GAT	TLR8	-	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp		0.413	TLR8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TLR8	HGNC	protein_coding	OTTHUMT00000055784.2	G	NM_016610		12937373	+1	no_errors	ENST00000218032	ensembl	human	known	70_37	missense	SNP	0.002	C
TMC2	117532	genome.wustl.edu	37	20	2560636	2560636	+	Silent	SNP	C	C	T	rs368192006		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:2560636C>T	ENST00000358864.1	+	7	783	c.768C>T	c.(766-768)ctC>ctT	p.L256L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	256					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCATCTTTCTCCGATGGATGT	0.398																																																	0													241.0	209.0	220.0					20																	2560636		2203	4300	6503	SO:0001819	synonymous_variant	117532			AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.768C>T	20.37:g.2560636C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	pfam_TMC	p.L256	ENST00000358864.1	37	c.768	CCDS13029.2	20																																																																																			TMC2	-	NULL		0.398	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC2	HGNC	protein_coding	OTTHUMT00000077601.2	C			2560636	+1	no_errors	ENST00000358864	ensembl	human	known	70_37	silent	SNP	0.998	T
TMC3	342125	genome.wustl.edu	37	15	81665068	81665068	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:81665068C>T	ENST00000359440.5	-	2	235	c.100G>A	c.(100-102)Gac>Aac	p.D34N	TMC3_ENST00000558726.1_Missense_Mutation_p.D34N	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3											autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						CTAAAGCTGTCATCCAAGTTG	0.443																																																	0													103.0	90.0	94.0					15																	81665068		1903	4127	6030	SO:0001583	missense	342125			AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.100G>A	15.37:g.81665068C>T	ENSP00000352413:p.Asp34Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_TMC	p.D34N	ENST00000359440.5	37	c.100	CCDS45324.1	15	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771547	0.69992	.	.	ENSG00000188869	ENST00000359440	T	0.64618	-0.11	4.96	4.03	0.46877	.	0.000000	0.64402	D	0.000006	T	0.69557	0.3124	L	0.44542	1.39	0.34971	D	0.753163	D;D	0.76494	0.971;0.999	P;D	0.64144	0.783;0.922	T	0.77923	-0.2406	10	0.51188	T	0.08	-17.2688	13.7983	0.63184	0.1551:0.8449:0.0:0.0	.	34;34	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	N	34	ENSP00000352413:D34N	ENSP00000352413:D34N	D	-	1	0	TMC3	79452123	1.000000	0.71417	0.795000	0.32087	0.990000	0.78478	3.537000	0.53590	1.177000	0.42855	0.467000	0.42956	GAC	TMC3	-	NULL		0.443	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMC3	HGNC	protein_coding	OTTHUMT00000417795.3	C	NM_181841		81665068	-1	no_errors	ENST00000359440	ensembl	human	known	70_37	missense	SNP	0.989	T
TMC4	147798	genome.wustl.edu	37	19	54666432	54666432	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:54666432G>A	ENST00000376591.4	-	10	1625	c.1494C>T	c.(1492-1494)gtC>gtT	p.V498V	TMC4_ENST00000416963.1_Silent_p.V80V|LENG1_ENST00000222224.3_5'Flank|TMC4_ENST00000476013.2_5'Flank|TMC4_ENST00000301187.4_Silent_p.V492V	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	498					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGAGCAGCGCGACTGCCAAGA	0.547																																																	0													45.0	48.0	47.0					19																	54666432		2203	4300	6503	SO:0001819	synonymous_variant	147798			AY236492	CCDS12882.1, CCDS46174.1	19q13.42	2008-02-05			ENSG00000167608	ENSG00000167608			22998	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005277069		Approved		uc010erf.3	Q7Z404	OTTHUMG00000066485	ENST00000376591.4:c.1494C>T	19.37:g.54666432G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z5M3|Q8N5E4|Q8TBS7	Silent	SNP	pfam_TMC	p.V492	ENST00000376591.4	37	c.1476	CCDS46174.1	19																																																																																			TMC4	-	pfam_TMC		0.547	TMC4-011	NOVEL	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMC4	HGNC	protein_coding	OTTHUMT00000156164.2	G			54666432	-1	no_errors	ENST00000301187	ensembl	human	known	70_37	silent	SNP	0.001	A
TMCO1	54499	genome.wustl.edu	37	1	165697359	165697359	+	Splice_Site	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:165697359C>T	ENST00000392129.6	-	7	619		c.e7-1		TMCO1_ENST00000464650.1_Splice_Site|TMCO1_ENST00000367881.5_Splice_Site|TMCO1_ENST00000580248.1_Splice_Site	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1							endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCTGAATGTTCTGTGAAGAAA	0.448																																																	0													100.0	110.0	107.0					1																	165697359		2203	4300	6503	SO:0001630	splice_region_variant	54499			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.469-1G>A	1.37:g.165697359C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2REA0|O75545|Q9BZS3|Q9BZU8	Splice_Site	SNP	-	e7-1	ENST00000392129.6	37	c.622-1		1	.	.	.	.	.	.	.	.	.	.	C	16.84	3.234310	0.58886	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.31	3.38	0.38709	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.9181	0.52778	0.0:0.6621:0.3379:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TMCO1	163963983	1.000000	0.71417	0.967000	0.41034	0.861000	0.49209	5.673000	0.68109	0.765000	0.33221	0.563000	0.77884	.	TMCO1	-	-		0.448	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	TMCO1	HGNC	protein_coding	OTTHUMT00000467850.1	C	NM_019026	Intron	165697359	-1	no_errors	ENST00000367881	ensembl	human	known	70_37	splice_site	SNP	1.000	T
TMCO1	54499	genome.wustl.edu	37	1	165728791	165728791	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:165728791G>A	ENST00000392129.6	-	3	329	c.179C>T	c.(178-180)tCa>tTa	p.S60L	TMCO1_ENST00000464650.1_5'UTR|TMCO1_ENST00000367881.5_Missense_Mutation_p.S111L|TMCO1_ENST00000580248.1_5'UTR	NM_001256165.1|NM_019026.4	NP_001243094.1|NP_061899.2	Q9UM00	TMCO1_HUMAN	transmembrane and coiled-coil domains 1	60						endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)	9	all_hematologic(923;0.048)|Acute lymphoblastic leukemia(8;0.155)					TCGACCAGCTGACTCTGTTAT	0.279																																																	0													102.0	101.0	101.0					1																	165728791		2203	4299	6502	SO:0001583	missense	54499			AB020980	CCDS1251.1, CCDS1251.2	1q22-q25	2008-02-05	2005-07-13	2005-07-13	ENSG00000143183	ENSG00000143183			18188	protein-coding gene	gene with protein product		614123	"""transmembrane and coiled-coil domains 4"""	TMCC4		8619474, 9110174	Standard	NM_019026		Approved	HP10122	uc001gdj.5	Q9UM00	OTTHUMG00000034672	ENST00000392129.6:c.179C>T	1.37:g.165728791G>A	ENSP00000375975:p.Ser60Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2REA0|O75545|Q9BZS3|Q9BZU8	Missense_Mutation	SNP	pfam_DUF106_TM	p.S111L	ENST00000392129.6	37	c.332		1	.	.	.	.	.	.	.	.	.	.	G	17.72	3.459235	0.63401	.	.	ENSG00000143183	ENST00000367881;ENST00000392129	.	.	.	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.64567	1.98	0.54753	D	0.999982	B;B	0.29270	0.24;0.005	B;B	0.35727	0.209;0.01	T	0.63341	-0.6659	8	0.66056	D	0.02	.	15.8484	0.78907	0.0:0.0:1.0:0.0	.	48;60	B7Z591;Q9UM00	.;TMCO1_HUMAN	L	60	.	ENSP00000356856:S60L	S	-	2	0	TMCO1	163995415	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.798000	0.75155	2.315000	0.78130	0.462000	0.41574	TCA	TMCO1	-	pfam_DUF106_TM		0.279	TMCO1-008	KNOWN	basic|appris_principal	protein_coding	TMCO1	HGNC	protein_coding	OTTHUMT00000467850.1	G	NM_019026		165728791	-1	no_errors	ENST00000367881	ensembl	human	known	70_37	missense	SNP	1.000	A
TMCO5B	100652857	genome.wustl.edu	37	15	33537611	33537611	+	IGR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:33537611C>T								TMCO5B (3120 upstream) : RP11-489D6.2 (58246 downstream)																							TTGGCTTCTTCTAGTGACAAG	0.498																																																	0																																										SO:0001628	intergenic_variant	100652857																															15.37:g.33537611C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		15																																																																																			TMCO5B	-	-	0	0.498					TMCO5B	HGNC			C			33537611	-1	no_errors	ENST00000530871	ensembl	human	known	70_37	rna	SNP	0.002	T
TMEM107	84314	genome.wustl.edu	37	17	8077884	8077884	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:8077884C>G	ENST00000437139.2	-	4	394	c.307G>C	c.(307-309)Gag>Cag	p.E103Q	TMEM107_ENST00000316425.5_Missense_Mutation_p.E109Q|TMEM107_ENST00000533070.1_Missense_Mutation_p.E109Q|TMEM107_ENST00000431792.2_Intron|SNORD118_ENST00000363593.1_RNA|RP11-599B13.7_ENST00000581248.1_lincRNA|TMEM107_ENST00000532998.1_3'UTR|TMEM107_ENST00000449985.2_Intron	NM_183065.2	NP_898888.1	Q6UX40	TM107_HUMAN	transmembrane protein 107	103					cilium assembly (GO:0042384)|embryonic digit morphogenesis (GO:0042733)|neural tube patterning (GO:0021532)	integral component of membrane (GO:0016021)				large_intestine(1)|lung(4)|ovary(1)	6						TCCCAACGCTCGAATATGAAG	0.498																																																	0													247.0	224.0	232.0					17																	8077884		2203	4300	6503	SO:0001583	missense	84314			AF311338	CCDS11132.1, CCDS45607.1	17p13.1	2005-12-19				ENSG00000179029			28128	protein-coding gene	gene with protein product						12477932	Standard	NM_032354		Approved	MGC10744	uc002gkh.4	Q6UX40		ENST00000437139.2:c.307G>C	17.37:g.8077884C>G	ENSP00000402732:p.Glu103Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJV7|Q6NSE3|Q6ZRX9|Q96T82	Missense_Mutation	SNP	NULL	p.E109Q	ENST00000437139.2	37	c.325	CCDS45607.1	17	.	.	.	.	.	.	.	.	.	.	C	25.2	4.617120	0.87359	.	.	ENSG00000179029	ENST00000437139;ENST00000533070;ENST00000316425	.	.	.	5.91	5.91	0.95273	.	2.778950	0.01125	N	0.005863	T	0.74344	0.3704	L	0.39566	1.225	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.54105	-0.8343	9	0.37606	T	0.19	.	15.7989	0.78436	0.0:1.0:0.0:0.0	.	109;109;103	Q6UX40-3;Q6UX40-4;Q6UX40	.;.;TM107_HUMAN	Q	103;109;109	.	ENSP00000314116:E109Q	E	-	1	0	TMEM107	8018609	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	4.678000	0.61641	2.803000	0.96430	0.542000	0.68232	GAG	TMEM107	-	NULL		0.498	TMEM107-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM107	HGNC	protein_coding	OTTHUMT00000388844.1	C	NM_032354		8077884	-1	no_errors	ENST00000316425	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM109	79073	genome.wustl.edu	37	11	60690641	60690641	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:60690641G>A	ENST00000227525.3	+	0	2139				TMEM132A_ENST00000453848.2_5'Flank|TMEM109_ENST00000540280.1_3'UTR|RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_3'UTR	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109						cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GTGGTCTGCAGAGAGCAGGGT	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	79073				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.*1004G>A	11.37:g.60690641G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000227525.3	37	NULL	CCDS7996.1	11																																																																																			TMEM109	-	-		0.612	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM109	HGNC	protein_coding	OTTHUMT00000396343.1	G	NM_024092		60690641	+1	no_errors	ENST00000540280	ensembl	human	putative	70_37	rna	SNP	0.000	A
TMEM109	79073	genome.wustl.edu	37	11	60690680	60690680	+	3'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:60690680G>A	ENST00000227525.3	+	0	2178				TMEM132A_ENST00000453848.2_5'Flank|TMEM109_ENST00000540280.1_3'UTR|RP11-881M11.4_ENST00000543907.1_RNA|TMEM132A_ENST00000005286.4_5'Flank|TMEM109_ENST00000536171.1_3'UTR	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109						cellular response to gamma radiation (GO:0071480)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|negative regulation of cell death (GO:0060548)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CTCCACCAGGGTACCCTGTCT	0.592																																																	0																																										SO:0001624	3_prime_UTR_variant	79073				CCDS7996.1	11q12.2	2005-12-22				ENSG00000110108			28771	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_024092		Approved	MGC5508	uc001nqg.3	Q9BVC6		ENST00000227525.3:c.*1043G>A	11.37:g.60690680G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000227525.3	37	NULL	CCDS7996.1	11																																																																																			TMEM109	-	-		0.592	TMEM109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM109	HGNC	protein_coding	OTTHUMT00000396343.1	G	NM_024092		60690680	+1	no_errors	ENST00000540280	ensembl	human	putative	70_37	rna	SNP	0.000	A
TMEM132C	92293	genome.wustl.edu	37	12	128900152	128900152	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:128900152C>T	ENST00000435159.2	+	2	961	c.961C>T	c.(961-963)Ctc>Ttc	p.L321F		NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	321						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						CTCTGTGGACCTCTTCATCTT	0.542																																																	0													11.0	13.0	12.0					12																	128900152		692	1590	2282	SO:0001583	missense	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.961C>T	12.37:g.128900152C>T	ENSP00000410852:p.Leu321Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YX8	Missense_Mutation	SNP	NULL	p.L321F	ENST00000435159.2	37	c.961		12	.	.	.	.	.	.	.	.	.	.	C	7.978	0.750518	0.15778	.	.	ENSG00000181234	ENST00000435159	T	0.13778	2.56	5.2	-2.58	0.06228	.	.	.	.	.	T	0.09686	0.0238	L	0.29908	0.895	0.09310	N	0.999997	B	0.06786	0.001	B	0.06405	0.002	T	0.33137	-0.9880	9	0.27082	T	0.32	.	12.0545	0.53527	0.0:0.6051:0.0:0.3949	.	321	Q8N3T6	T132C_HUMAN	F	321	ENSP00000410852:L321F	ENSP00000410852:L321F	L	+	1	0	TMEM132C	127466105	0.913000	0.31002	0.488000	0.27440	0.970000	0.65996	0.654000	0.24918	-0.821000	0.04312	-0.940000	0.02684	CTC	TMEM132C	-	NULL		0.542	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		C	XM_044062		128900152	+1	no_errors	ENST00000435159	ensembl	human	known	70_37	missense	SNP	0.583	T
TMEM132E	124842	genome.wustl.edu	37	17	32953295	32953295	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:32953295C>T	ENST00000321639.5	+	2	545	c.217C>T	c.(217-219)Ctg>Ttg	p.L73L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	73						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CAACAGCTCTCTGCAGCGCTC	0.701																																																	0													19.0	18.0	18.0					17																	32953295		2199	4298	6497	SO:0001819	synonymous_variant	124842			BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.217C>T	17.37:g.32953295C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WUF4|Q8WVA5	Silent	SNP	NULL	p.L73	ENST00000321639.5	37	c.217	CCDS11283.1	17																																																																																			TMEM132E	-	NULL		0.701	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM132E	HGNC	protein_coding	OTTHUMT00000256440.2	C	NM_207313		32953295	+1	no_errors	ENST00000321639	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM185B	79134	genome.wustl.edu	37	2	120980298	120980298	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:120980298C>T	ENST00000426077.2	-	1	686	c.255G>A	c.(253-255)ctG>ctA	p.L85L		NM_024121.2	NP_077026.2	Q9H7F4	T185B_HUMAN	transmembrane protein 185B	85						integral component of membrane (GO:0016021)											CCACAGCGATCAGCATGGCTT	0.642																																																	0																																										SO:0001819	synonymous_variant	79134			AK024632	CCDS58722.1	2q14.2	2012-08-10	2011-05-27	2007-02-05	ENSG00000226479	ENSG00000226479			18896	protein-coding gene	gene with protein product			"""family with sequence similarity 11, member B"", ""transmembrane protein 185B (pseudogene)"""	FAM11B		12404111	Standard	NM_024121		Approved	FLJ20979	uc002tmj.2	Q9H7F4	OTTHUMG00000154402	ENST00000426077.2:c.255G>A	2.37:g.120980298C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1G5|Q53T33|Q66K44|Q8IZ77	Silent	SNP	pfam_TM_Fragile-X-F-assoc	p.L85	ENST00000426077.2	37	c.255	CCDS58722.1	2																																																																																			TMEM185B	-	pfam_TM_Fragile-X-F-assoc		0.642	TMEM185B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM185B	HGNC	protein_coding	OTTHUMT00000335069.4	C	NM_024121.2		120980298	-1	no_errors	ENST00000426077	ensembl	human	known	70_37	silent	SNP	1.000	T
TMEM38B	55151	genome.wustl.edu	37	9	108510422	108510422	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:108510422C>G	ENST00000374692.3	+	5	728	c.611C>G	c.(610-612)tCa>tGa	p.S204*	TMEM38B_ENST00000374688.1_Nonsense_Mutation_p.S150*	NM_018112.1	NP_060582.1	Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	204						integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum membrane (GO:0033017)	potassium channel activity (GO:0005267)			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						CTGGCAATATCAAAGCATAAT	0.373																																																	0													91.0	83.0	86.0					9																	108510422		2203	4300	6503	SO:0001587	stop_gained	55151			BC031938	CCDS6768.1	9q31.3	2013-05-23	2004-12-21	2004-12-22	ENSG00000095209	ENSG00000095209			25535	protein-coding gene	gene with protein product		611236	"""chromosome 9 open reading frame 87"""	C9orf87		17611541, 23316006	Standard	NM_018112		Approved	FLJ10493, bA219P18.1, D4Ertd89e, TRIC-B	uc004bcu.2	Q9NVV0	OTTHUMG00000020429	ENST00000374692.3:c.611C>G	9.37:g.108510422C>G	ENSP00000363824:p.Ser204*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JR63|Q5SVN5|Q5SVN6|Q5VTE2|Q6IA97	Nonsense_Mutation	SNP	pfam_TRIC_channel	p.S204*	ENST00000374692.3	37	c.611	CCDS6768.1	9	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	18.09|18.09|18.09	3.546159|3.546159|3.546159	0.65198|0.65198|0.65198	.|.|.	.|.|.	ENSG00000095209|ENSG00000095209|ENSG00000095209	ENST00000451560|ENST00000435034|ENST00000374692;ENST00000374688	.|.|.	.|.|.	.|.|.	5.47|5.47|5.47	4.52|4.52|4.52	0.55395|0.55395|0.55395	.|.|.	.|.|0.526013	.|.|0.21068	.|.|N	.|.|0.080701	T|T|.	0.70692|0.70692|.	0.3253|0.3253|.	.|.|.	.|.|.	.|.|.	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|.	0.70208|0.70208|.	-0.4935|-0.4935|.	5|4|.	0.46703|.|0.46703	T|.|T	0.11|.|0.11	-2.8215|-2.8215|-2.8215	13.7646|13.7646|13.7646	0.62988|0.62988|0.62988	0.0:0.8447:0.1553:0.0|0.0:0.8447:0.1553:0.0|0.0:0.8447:0.1553:0.0	.|.|.	.|.|.	.|.|.	.|.|.	M|E|X	64|141|204;150	.|.|.	ENSP00000416680:I64M|.|ENSP00000363820:S150X	I|Q|S	+|+|+	3|1|2	3|0|0	TMEM38B|TMEM38B|TMEM38B	107550243|107550243|107550243	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.967000|0.967000|0.967000	0.64934|0.64934|0.64934	1.480000|1.480000|1.480000	0.35464|0.35464|0.35464	2.720000|2.720000|2.720000	0.93068|0.93068|0.93068	0.591000|0.591000|0.591000	0.81541|0.81541|0.81541	ATC|CAA|TCA	TMEM38B	-	pfam_TRIC_channel		0.373	TMEM38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM38B	HGNC	protein_coding	OTTHUMT00000053517.1	C	NM_018112		108510422	+1	no_errors	ENST00000374692	ensembl	human	known	70_37	nonsense	SNP	0.998	G
TMEM8A	58986	genome.wustl.edu	37	16	424225	424225	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:424225G>A	ENST00000431232.2	-	10	1911	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	TMEM8A_ENST00000250930.3_Missense_Mutation_p.S391F|TMEM8A_ENST00000476735.1_5'Flank	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	584					cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GCCTACCGTGGAGAAGAACAT	0.657											OREG0003702	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0													54.0	56.0	56.0					16																	424225		2200	4298	6498	SO:0001583	missense	58986			AB045292	CCDS10407.1	16p13.3	2009-06-12	2009-06-12	2009-06-12	ENSG00000129925	ENSG00000129925			17205	protein-coding gene	gene with protein product			"""transmembrane protein 6"", ""transmembrane protein 8 (five membrane-spanning domains)"""	TMEM6, TMEM8		11006113	Standard	NM_021259		Approved	M83	uc002cgu.4	Q9HCN3	OTTHUMG00000047996	ENST00000431232.2:c.1751C>T	16.37:g.424225G>A	ENSP00000401338:p.Ser584Phe	Somatic	588	WXS	Illumina HiSeq	Phase_IV	D3DU49|Q4TT35|Q8WU24|Q96S25|Q9BR03|Q9BT97|Q9H7B9	Missense_Mutation	SNP	pfam_DUF3522,pfscan_EG-like_dom	p.S584F	ENST00000431232.2	37	c.1751	CCDS10407.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.18|16.18	3.050778|3.050778	0.55218|0.55218	.|.	.|.	ENSG00000129925|ENSG00000129925	ENST00000424078|ENST00000431232;ENST00000250930;ENST00000382942;ENST00000448854	.|T;T;T	.|0.69435	.|-0.4;-0.4;-0.4	3.86|3.86	3.86|3.86	0.44501|0.44501	.|.	.|0.000000	.|0.56097	.|D	.|0.000030	D|D	0.84088|0.84088	0.5395|0.5395	M|M	0.89214|0.89214	3.015|3.015	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	D|D	0.88206|0.88206	0.2887|0.2887	5|10	.|0.87932	.|D	.|0	-2.7938|-2.7938	16.3572|16.3572	0.83239|0.83239	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|584	.|Q9HCN3	.|TMM8A_HUMAN	S|F	91|584;391;111;132	.|ENSP00000401338:S584F;ENSP00000250930:S391F;ENSP00000401931:S132F	.|ENSP00000250930:S391F	P|S	-|-	1|2	0|0	TMEM8A|TMEM8A	364226|364226	1.000000|1.000000	0.71417|0.71417	0.992000|0.992000	0.48379|0.48379	0.437000|0.437000	0.31866|0.31866	6.414000|6.414000	0.73318|0.73318	2.169000|2.169000	0.68431|0.68431	0.563000|0.563000	0.77884|0.77884	CCA|TCC	TMEM8A	-	pfam_DUF3522		0.657	TMEM8A-001	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TMEM8A	HGNC	protein_coding	OTTHUMT00000109257.2	G	NM_021259		424225	-1	no_errors	ENST00000431232	ensembl	human	known	70_37	missense	SNP	1.000	A
TMF1	7110	genome.wustl.edu	37	3	69075149	69075149	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:69075149G>C	ENST00000398559.2	-	14	3073	c.2857C>G	c.(2857-2859)Cag>Gag	p.Q953E	CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000595925.1_RNA|TMF1_ENST00000543976.1_Missense_Mutation_p.Q956E|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA			P82094	TMF1_HUMAN	TATA element modulatory factor 1	953					acrosome assembly (GO:0001675)|cellular response to organic cyclic compound (GO:0071407)|defense response to bacterium (GO:0042742)|Leydig cell differentiation (GO:0033327)|luteinizing hormone secretion (GO:0032275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of gene expression (GO:0010629)|positive regulation of cytokine production (GO:0001819)|positive regulation of testosterone secretion (GO:2000845)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of transcription, DNA-templated (GO:0006355)|sperm motility (GO:0030317)|spermatid nucleus differentiation (GO:0007289)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|transcription cofactor activity (GO:0003712)			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AACATCACCTGAGACAGAAAA	0.373																																																	0													89.0	83.0	85.0					3																	69075149		1865	4101	5966	SO:0001583	missense	7110				CCDS43105.1	3p21-p12	2009-02-11			ENSG00000144747	ENSG00000144747			11870	protein-coding gene	gene with protein product		601126				1409643	Standard	NM_007114		Approved	ARA160, TMF	uc003dnn.3	P82094	OTTHUMG00000158771	ENST00000398559.2:c.2857C>G	3.37:g.69075149G>C	ENSP00000381567:p.Gln953Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLJ2|Q17R87|Q59GK0	Missense_Mutation	SNP	pfam_TMF_TATA-bd,pfam_TMF_DNA-bd	p.Q956E	ENST00000398559.2	37	c.2866	CCDS43105.1	3	.	.	.	.	.	.	.	.	.	.	G	12.66	2.004806	0.35320	.	.	ENSG00000144747	ENST00000398559;ENST00000543976;ENST00000356248	T;T	0.19394	2.15;2.16	5.04	5.04	0.67666	.	0.057025	0.64402	D	0.000001	T	0.31199	0.0789	L	0.36672	1.1	0.53688	D	0.999976	D;D	0.69078	0.996;0.997	D;D	0.76071	0.987;0.985	T	0.02269	-1.1185	10	0.02654	T	1	-8.7032	15.8174	0.78615	0.0:0.1359:0.8641:0.0	.	956;953	P82094-2;P82094	.;TMF1_HUMAN	E	953;956;869	ENSP00000381567:Q953E;ENSP00000438706:Q956E	ENSP00000348582:Q869E	Q	-	1	0	TMF1	69157839	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.905000	0.75714	2.495000	0.84180	0.585000	0.79938	CAG	TMF1	-	NULL		0.373	TMF1-001	KNOWN	basic|CCDS	protein_coding	TMF1	HGNC	protein_coding	OTTHUMT00000352106.1	G	NM_007114		69075149	-1	no_errors	ENST00000543976	ensembl	human	known	70_37	missense	SNP	1.000	C
TMIGD1	388364	genome.wustl.edu	37	17	28656379	28656379	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:28656379G>T	ENST00000328886.4	-	3	323	c.251C>A	c.(250-252)tCc>tAc	p.S84Y	TMIGD1_ENST00000538566.2_Missense_Mutation_p.S84Y	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	84	Ig-like C2-type 1.					integral component of membrane (GO:0016021)				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						GACAGAGCTGGAATTGATTTT	0.493																																																	0													141.0	122.0	128.0					17																	28656379		2203	4300	6503	SO:0001583	missense	388364			AY358153	CCDS32605.1	17q11.2	2013-01-29	2006-07-05	2006-07-05		ENSG00000182271		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	32431	protein-coding gene	gene with protein product				TMIGD		12975309	Standard	NM_206832		Approved	UNQ9372	uc002hfa.1	Q6UXZ0		ENST00000328886.4:c.251C>A	17.37:g.28656379G>T	ENSP00000332404:p.Ser84Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2K1|Q6ZMC6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.S84Y	ENST00000328886.4	37	c.251	CCDS32605.1	17	.	.	.	.	.	.	.	.	.	.	G	19.12	3.765302	0.69878	.	.	ENSG00000182271	ENST00000328886;ENST00000538566	T;T	0.14022	2.54;2.54	5.52	4.53	0.55603	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.457136	0.25236	N	0.032128	T	0.26231	0.0640	L	0.56769	1.78	0.32327	N	0.56155	D;D	0.61080	0.986;0.989	P;P	0.58077	0.742;0.832	T	0.30179	-0.9987	10	0.52906	T	0.07	-1.5911	10.2948	0.43618	0.17:0.0:0.83:0.0	.	84;84	Q6UXZ0-2;Q6UXZ0	.;TMIG1_HUMAN	Y	84	ENSP00000332404:S84Y;ENSP00000446118:S84Y	ENSP00000332404:S84Y	S	-	2	0	TMIGD1	25680505	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.191000	0.42640	1.289000	0.44618	0.579000	0.79373	TCC	TMIGD1	-	smart_Ig_sub,pfscan_Ig-like		0.493	TMIGD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMIGD1	HGNC	protein_coding	OTTHUMT00000447955.1	G	NM_206832		28656379	-1	no_errors	ENST00000328886	ensembl	human	known	70_37	missense	SNP	1.000	T
TMPRSS11F	389208	genome.wustl.edu	37	4	68925067	68925067	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:68925067C>T	ENST00000356291.2	-	9	1194	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K	UBA6-AS1_ENST00000500538.2_RNA|RP11-35D5.1_ENST00000600441.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	379	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ATTTTTCCTTCCATGAATCCA	0.388																																																	0													189.0	166.0	174.0					4																	68925067		2203	4300	6503	SO:0001583	missense	389208			AK122625	CCDS3520.1	4q13.2	2010-04-13			ENSG00000198092	ENSG00000198092		"""Serine peptidases / Transmembrane"""	29994	protein-coding gene	gene with protein product							Standard	NM_207407		Approved	FLJ16046	uc003hdt.1	Q6ZWK6	OTTHUMG00000129307	ENST00000356291.2:c.1135G>A	4.37:g.68925067C>T	ENSP00000348639:p.Glu379Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MXX2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_SEA,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_SEA,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.E379K	ENST00000356291.2	37	c.1135	CCDS3520.1	4	.	.	.	.	.	.	.	.	.	.	C	17.85	3.489870	0.64074	.	.	ENSG00000198092	ENST00000356291	D	0.93019	-3.15	5.43	5.43	0.79202	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.53938	D	0.000046	D	0.94105	0.8110	L	0.43923	1.385	0.31561	N	0.657558	D	0.67145	0.996	D	0.72338	0.977	D	0.91658	0.5340	10	0.23302	T	0.38	.	12.4515	0.55679	0.0:0.8311:0.1689:0.0	.	379	Q6ZWK6	TM11F_HUMAN	K	379	ENSP00000348639:E379K	ENSP00000348639:E379K	E	-	1	0	TMPRSS11F	68607662	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.343000	0.44001	2.545000	0.85829	0.591000	0.81541	GAA	TMPRSS11F	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_HAT/DESC1,pfscan_Peptidase_S1_S6		0.388	TMPRSS11F-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS11F	HGNC	protein_coding	OTTHUMT00000251439.1	C	NM_207407		68925067	-1	no_errors	ENST00000356291	ensembl	human	known	70_37	missense	SNP	1.000	T
TMPRSS3	64699	genome.wustl.edu	37	21	43792022	43792022	+	3'UTR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:43792022G>C	ENST00000291532.3	-	0	3169				TMPRSS3_ENST00000398405.1_3'UTR|TMPRSS3_ENST00000433957.2_3'UTR|TMPRSS3_ENST00000380399.1_3'UTR|TMPRSS3_ENST00000474596.1_5'UTR	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CATATTATTTGGAATCAAAGG	0.418																																																	0																																										SO:0001624	3_prime_UTR_variant	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.*849C>G	21.37:g.43792022G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSJ6|Q5USC7|Q6ZMC3	RNA	SNP	-	NULL	ENST00000291532.3	37	NULL	CCDS13686.1	21																																																																																			TMPRSS3	-	-		0.418	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMPRSS3	HGNC	protein_coding	OTTHUMT00000195347.1	G			43792022	-1	no_errors	ENST00000474596	ensembl	human	putative	70_37	rna	SNP	0.000	C
TMPRSS6	164656	genome.wustl.edu	37	22	37480241	37480241	+	Intron	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:37480241G>C	ENST00000346753.3	-	10	1340				TMPRSS6_ENST00000381792.2_Intron|TMPRSS6_ENST00000406725.1_Intron|TMPRSS6_ENST00000442782.2_Silent_p.V439V|RP5-1170K4.7_ENST00000414203.2_RNA|TMPRSS6_ENST00000406856.1_Intron	NM_153609.2	NP_705837.1	Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6						angiogenesis (GO:0001525)|extracellular matrix organization (GO:0030198)|fibrinolysis (GO:0042730)|intracellular signal transduction (GO:0035556)|iron ion homeostasis (GO:0055072)|proteolysis (GO:0006508)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGAGATTGGGGACTTGGGCTT	0.632																																																	0																																										SO:0001627	intron_variant	164656			AY055383	CCDS13941.1, CCDS74856.1, CCDS74857.1	22q13.1	2010-04-13			ENSG00000187045	ENSG00000187045		"""Serine peptidases / Transmembrane"""	16517	protein-coding gene	gene with protein product		609862					Standard	NM_001289000		Approved	FLJ30744	uc003aqs.1	Q8IU80	OTTHUMG00000150541	ENST00000346753.3:c.1223+93C>G	22.37:g.37480241G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYB4|B0QYB7|B0QYB8|Q5TI06|Q6ICC2|Q6UXD8|Q8IUE2|Q8IXV8	Silent	SNP	pfam_SEA,superfamily_CUB,pfscan_CUB	p.V439	ENST00000346753.3	37	c.1317	CCDS13941.1	22																																																																																			TMPRSS6	-	NULL		0.632	TMPRSS6-003	NOVEL	basic|CCDS	protein_coding	TMPRSS6	HGNC	protein_coding	OTTHUMT00000318822.1	G	NM_153609		37480241	-1	no_errors	ENST00000442782	ensembl	human	known	70_37	silent	SNP	0.000	C
TMTC3	160418	genome.wustl.edu	37	12	88542183	88542183	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:88542183G>C	ENST00000266712.6	+	2	311	c.91G>C	c.(91-93)Gat>Cat	p.D31H		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	31					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						TTTTGTTTTTGATGATGTTTC	0.353																																																	0													157.0	144.0	148.0					12																	88542183		2203	4300	6503	SO:0001583	missense	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.91G>C	12.37:g.88542183G>C	ENSP00000266712:p.Asp31His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Missense_Mutation	SNP	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.D31H	ENST00000266712.6	37	c.91	CCDS9032.1	12	.	.	.	.	.	.	.	.	.	.	G	27.1	4.799632	0.90538	.	.	ENSG00000139324	ENST00000549011;ENST00000266712;ENST00000551088	D;D	0.95137	-3.62;-2.03	5.33	5.33	0.75918	.	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99160	1.0861	10	0.87932	D	0	-24.1556	19.3897	0.94576	0.0:0.0:1.0:0.0	.	31	Q6ZXV5-2	.	H	31	ENSP00000447640:D31H;ENSP00000266712:D31H	ENSP00000266712:D31H	D	+	1	0	TMTC3	87066314	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.775000	0.98995	2.669000	0.90835	0.585000	0.79938	GAT	TMTC3	-	NULL		0.353	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	G	NM_181783		88542183	+1	no_errors	ENST00000266712	ensembl	human	known	70_37	missense	SNP	1.000	C
TMTC4	84899	genome.wustl.edu	37	13	101287313	101287313	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:101287313C>G	ENST00000376234.3	-	10	1471	c.1282G>C	c.(1282-1284)Gga>Cga	p.G428R	TMTC4_ENST00000342624.5_Missense_Mutation_p.G447R|TMTC4_ENST00000328767.5_Missense_Mutation_p.G317R|TMTC4_ENST00000462211.1_5'UTR	NM_001079669.1	NP_001073137.1	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	428						integral component of membrane (GO:0016021)				breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCTCCGAATCCAAAAGTCAGC	0.522																																																	0													79.0	75.0	76.0					13																	101287313		2203	4300	6503	SO:0001583	missense	84899				CCDS9497.2, CCDS41904.1, CCDS66575.1	13q32.3	2013-01-10	2006-01-06		ENSG00000125247	ENSG00000125247		"""Tetratricopeptide (TTC) repeat domain containing"""	25904	protein-coding gene	gene with protein product							Standard	XM_005254082		Approved	FLJ14624, FLJ22153	uc001vot.3	Q5T4D3	OTTHUMG00000017289	ENST00000376234.3:c.1282G>C	13.37:g.101287313C>G	ENSP00000365408:p.Gly428Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLI7|B7Z666|Q5T4D4|Q5T4D5|Q5T4D6|Q8WV63|Q96SU8	Missense_Mutation	SNP	pfam_TPR-1,pfam_DUF1736,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.G447R	ENST00000376234.3	37	c.1339	CCDS41904.1	13	.	.	.	.	.	.	.	.	.	.	C	35	5.489648	0.96323	.	.	ENSG00000125247	ENST00000376234;ENST00000342624;ENST00000328767	T;T;T	0.67865	-0.26;-0.29;0.61	5.5	5.5	0.81552	.	0.157874	0.56097	D	0.000030	D	0.87075	0.6087	M	0.93197	3.39	0.48696	D	0.999691	D;D;D;P	0.89917	0.992;1.0;0.996;0.913	D;D;D;P	0.76575	0.942;0.988;0.937;0.767	D	0.90120	0.4198	10	0.87932	D	0	.	19.425	0.94737	0.0:1.0:0.0:0.0	.	317;428;428;447	B7Z666;Q5T4D3-2;Q5T4D3;Q5T4D3-3	.;.;TMTC4_HUMAN;.	R	428;447;317	ENSP00000365408:G428R;ENSP00000343871:G447R;ENSP00000365409:G317R	ENSP00000365409:G317R	G	-	1	0	TMTC4	100085314	0.996000	0.38824	0.035000	0.18076	0.887000	0.51463	5.759000	0.68785	2.584000	0.87258	0.563000	0.77884	GGA	TMTC4	-	NULL		0.522	TMTC4-004	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC4	HGNC	protein_coding	OTTHUMT00000045649.2	C	NM_032813		101287313	-1	no_errors	ENST00000342624	ensembl	human	known	70_37	missense	SNP	0.888	G
TNC	3371	genome.wustl.edu	37	9	117817774	117817774	+	Intron	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:117817774C>A	ENST00000350763.4	-	15	4991				TNC_ENST00000340094.3_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000481475.1_5'UTR|TNC_ENST00000341037.4_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C						bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CTTGGACCATCAGGGTCTGAG	0.488																																																	0																																										SO:0001627	intron_variant	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.4579+1657G>T	9.37:g.117817774C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	RNA	SNP	-	NULL	ENST00000350763.4	37	NULL	CCDS6811.1	9																																																																																			TNC	-	-		0.488	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160		117817774	-1	no_errors	ENST00000481475	ensembl	human	known	70_37	rna	SNP	1.000	A
TNC	3371	genome.wustl.edu	37	9	117848146	117848146	+	Nonsense_Mutation	SNP	C	C	A	rs201025112		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:117848146C>A	ENST00000350763.4	-	3	2275	c.1864G>T	c.(1864-1866)Gag>Tag	p.E622*	TNC_ENST00000340094.3_Nonsense_Mutation_p.E622*|TNC_ENST00000423613.2_Nonsense_Mutation_p.E622*|TNC_ENST00000542877.1_Nonsense_Mutation_p.E622*|TNC_ENST00000345230.3_Nonsense_Mutation_p.E622*|TNC_ENST00000535648.1_Nonsense_Mutation_p.E622*|TNC_ENST00000537320.1_Nonsense_Mutation_p.E622*|TNC_ENST00000346706.3_Nonsense_Mutation_p.E622*|TNC_ENST00000341037.4_Nonsense_Mutation_p.E622*	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	622					bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACTCACCCTCTGAGCAGTCT	0.527																																																	0													36.0	34.0	35.0					9																	117848146		2203	4300	6503	SO:0001587	stop_gained	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1864G>T	9.37:g.117848146C>A	ENSP00000265131:p.Glu622*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.E622*	ENST00000350763.4	37	c.1864	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	38	6.987085	0.97983	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	.	.	.	5.74	1.6	0.23607	.	0.560479	0.20392	N	0.093239	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	18.2386	0.89958	0.0:0.5087:0.4913:0.0	.	.	.	.	X	622	.	ENSP00000344400:E622X	E	-	1	0	TNC	116887967	0.000000	0.05858	0.036000	0.18154	0.126000	0.20510	0.008000	0.13197	0.020000	0.15106	0.563000	0.77884	GAG	TNC	-	pfscan_Fibronectin_type3		0.527	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160		117848146	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	nonsense	SNP	0.011	A
TNC	3371	genome.wustl.edu	37	9	117848473	117848473	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:117848473C>A	ENST00000350763.4	-	3	1948	c.1537G>T	c.(1537-1539)Gac>Tac	p.D513Y	TNC_ENST00000340094.3_Missense_Mutation_p.D513Y|TNC_ENST00000423613.2_Missense_Mutation_p.D513Y|TNC_ENST00000542877.1_Missense_Mutation_p.D513Y|TNC_ENST00000345230.3_Missense_Mutation_p.D513Y|TNC_ENST00000535648.1_Missense_Mutation_p.D513Y|TNC_ENST00000537320.1_Missense_Mutation_p.D513Y|TNC_ENST00000346706.3_Missense_Mutation_p.D513Y|TNC_ENST00000341037.4_Missense_Mutation_p.D513Y	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	513	EGF-like 12. {ECO:0000255|PROSITE- ProRule:PRU00076}.				bud outgrowth involved in lung branching (GO:0060447)|cell adhesion (GO:0007155)|cellular response to prostaglandin D stimulus (GO:0071799)|cellular response to retinoic acid (GO:0071300)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|mesenchymal-epithelial cell signaling involved in prostate gland development (GO:0060739)|negative regulation of cell adhesion (GO:0007162)|neuromuscular junction development (GO:0007528)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoblast differentiation (GO:0001649)|peripheral nervous system axon regeneration (GO:0014012)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|prostate gland epithelium morphogenesis (GO:0060740)|response to ethanol (GO:0045471)|response to fibroblast growth factor (GO:0071774)|response to mechanical stimulus (GO:0009612)|response to wounding (GO:0009611)|wound healing (GO:0042060)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|interstitial matrix (GO:0005614)|membrane (GO:0016020)	syndecan binding (GO:0045545)			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CACTGTCCGTCCACACAGAGG	0.597																																																	0													91.0	82.0	85.0					9																	117848473		2203	4300	6503	SO:0001583	missense	3371				CCDS6811.1	9q33.1	2014-01-28	2008-07-31	2002-06-07	ENSG00000041982	ENSG00000041982		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	5318	protein-coding gene	gene with protein product	"""hexabrachion (tenascin)"""	187380	"""hexabrachion (tenascin C, cytotactin)"", ""deafness, autosomal dominant 56"""	HXB, DFNA56		1704365, 1707164, 23936043	Standard	NM_002160		Approved	TN, MGC167029	uc004bjj.4	P24821	OTTHUMG00000021010	ENST00000350763.4:c.1537G>T	9.37:g.117848473C>A	ENSP00000265131:p.Asp513Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	C9IYT7|C9J575|C9J6D9|C9J848|Q14583|Q15567|Q5T7S3	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C,pfscan_EG-like_dom,pfscan_Fibronectin_type3	p.D513Y	ENST00000350763.4	37	c.1537	CCDS6811.1	9	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250993	0.39797	.	.	ENSG00000041982	ENST00000340094;ENST00000535648;ENST00000346706;ENST00000345230;ENST00000350763;ENST00000442945;ENST00000341037;ENST00000423613;ENST00000537320;ENST00000542877	T;T;T;T;T;T;T;T;T	0.10288	2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89;2.89	5.82	5.82	0.92795	EGF, extracellular (1);Epidermal growth factor-like (1);	0.302850	0.38058	N	0.001821	T	0.29524	0.0736	M	0.72624	2.21	0.53005	D	0.999963	D;P	0.69078	0.997;0.779	D;P	0.71656	0.974;0.718	T	0.00802	-1.1560	10	0.87932	D	0	.	10.4772	0.44672	0.0:0.8559:0.0:0.1441	.	513;513	E9PC84;P24821	.;TENA_HUMAN	Y	513	ENSP00000344400:D513Y;ENSP00000438152:D513Y;ENSP00000344555:D513Y;ENSP00000345861:D513Y;ENSP00000265131:D513Y;ENSP00000339553:D513Y;ENSP00000411406:D513Y;ENSP00000443478:D513Y;ENSP00000442242:D513Y	ENSP00000344400:D513Y	D	-	1	0	TNC	116888294	0.968000	0.33430	0.792000	0.32020	0.065000	0.16274	2.256000	0.43231	2.753000	0.94483	0.462000	0.41574	GAC	TNC	-	pfam_EGF_extracell,smart_EG-like_dom		0.597	TNC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNC	HGNC	protein_coding	OTTHUMT00000055418.2	C	NM_002160		117848473	-1	no_errors	ENST00000350763	ensembl	human	known	70_37	missense	SNP	0.961	A
TNFRSF1B	7133	genome.wustl.edu	37	1	12254073	12254073	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12254073C>T	ENST00000376259.3	+	7	938	c.849C>T	c.(847-849)atC>atT	p.I283I	TNFRSF1B_ENST00000492361.1_3'UTR|MIR4632_ENST00000584158.1_RNA	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	283					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ACTGTGTCATCATGACCCAGG	0.478																																																	0													206.0	193.0	198.0					1																	12254073		2203	4300	6503	SO:0001819	synonymous_variant	7133			M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.849C>T	1.37:g.12254073C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJZ3|Q16042|Q6YI29|Q9UIH1	Silent	SNP	pfam_TNFR/NGFR_Cys_rich_reg,smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_1B	p.I283	ENST00000376259.3	37	c.849	CCDS145.1	1																																																																																			TNFRSF1B	-	NULL		0.478	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF1B	HGNC	protein_coding	OTTHUMT00000005133.1	C	NM_001066		12254073	+1	no_errors	ENST00000376259	ensembl	human	known	70_37	silent	SNP	0.069	T
TNKS	8658	genome.wustl.edu	37	8	9605588	9605588	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:9605588G>T	ENST00000310430.6	+	18	2724	c.2698G>T	c.(2698-2700)Gat>Tat	p.D900Y	TNKS_ENST00000518281.1_Missense_Mutation_p.D663Y	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	900					mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|mRNA transport (GO:0051028)|negative regulation of DNA binding (GO:0043392)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of telomere maintenance via telomerase (GO:0032212)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein ADP-ribosylation (GO:0006471)|protein auto-ADP-ribosylation (GO:0070213)|protein localization to chromosome, telomeric region (GO:0070198)|protein poly-ADP-ribosylation (GO:0070212)|protein polyubiquitination (GO:0000209)|protein transport (GO:0015031)|regulation of telomere maintenance via telomerase (GO:0032210)|spindle assembly (GO:0051225)|Wnt signaling pathway (GO:0016055)	chromosome, centromeric region (GO:0000775)|chromosome, telomeric region (GO:0000781)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nuclear chromosome, telomeric region (GO:0000784)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nucleus (GO:0005634)|pericentriolar material (GO:0000242)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|zinc ion binding (GO:0008270)			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAATGCAACAGATAAGTGGGC	0.453																																																	0													89.0	89.0	89.0					8																	9605588		2203	4300	6503	SO:0001583	missense	8658			AF082556	CCDS5974.1	8p23.1	2013-01-10			ENSG00000173273	ENSG00000173273		"""Poly (ADP-ribose) polymerases"", ""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	11941	protein-coding gene	gene with protein product		603303				9822378, 10198177	Standard	XM_006716263		Approved	TIN1, TINF1, TNKS1, PARP-5a, PARP5A, pART5	uc003wss.3	O95271	OTTHUMG00000090481	ENST00000310430.6:c.2698G>T	8.37:g.9605588G>T	ENSP00000311579:p.Asp900Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	O95272|Q4G0F2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_SAM_2,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SAM,pfscan_Poly(ADP-ribose)pol_cat_dom,prints_Ankyrin_rpt	p.D900Y	ENST00000310430.6	37	c.2698	CCDS5974.1	8	.	.	.	.	.	.	.	.	.	.	G	32	5.105606	0.94292	.	.	ENSG00000173273	ENST00000310430;ENST00000518281	T;T	0.77489	-1.1;2.18	5.88	5.88	0.94601	Ankyrin repeat-containing domain (3);	0.000000	0.85682	D	0.000000	D	0.91805	0.7407	M	0.93854	3.465	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93014	0.6434	10	0.87932	D	0	.	20.2381	0.98363	0.0:0.0:1.0:0.0	.	900	O95271	TNKS1_HUMAN	Y	900;663	ENSP00000311579:D900Y;ENSP00000429890:D663Y	ENSP00000311579:D900Y	D	+	1	0	TNKS	9642998	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.623000	0.98386	2.779000	0.95612	0.650000	0.86243	GAT	TNKS	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.453	TNKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNKS	HGNC	protein_coding	OTTHUMT00000206935.1	G	NM_003747		9605588	+1	no_errors	ENST00000310430	ensembl	human	known	70_37	missense	SNP	1.000	T
TNKS1BP1	85456	genome.wustl.edu	37	11	57080263	57080263	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:57080263G>A	ENST00000532437.1	-	4	2210	c.1899C>T	c.(1897-1899)ctC>ctT	p.L633L	TNKS1BP1_ENST00000358252.3_Silent_p.L633L|TNKS1BP1_ENST00000530920.1_5'Flank			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	633	Acidic.|Pro-rich.				gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|RNA metabolic process (GO:0016070)|telomere maintenance via telomerase (GO:0007004)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nuclear telomeric heterochromatin (GO:0005724)|nucleus (GO:0005634)	ankyrin binding (GO:0030506)|enzyme binding (GO:0019899)	p.L633L(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CATCAGCAAAGAGAACACAGG	0.662																																																	1	Substitution - coding silent(1)	urinary_tract(1)											35.0	39.0	38.0					11																	57080263		2201	4296	6497	SO:0001819	synonymous_variant	85456			AB051528	CCDS7951.1	11q12.2	2008-07-21			ENSG00000149115	ENSG00000149115			19081	protein-coding gene	gene with protein product		607104				11854288	Standard	NM_033396		Approved	TAB182, KIAA1741, FLJ45975	uc001njs.3	Q9C0C2	OTTHUMG00000167022	ENST00000532437.1:c.1899C>T	11.37:g.57080263G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2F8|Q6PJ35|Q6ZV74	Silent	SNP	NULL	p.L633	ENST00000532437.1	37	c.1899	CCDS7951.1	11																																																																																			TNKS1BP1	-	NULL		0.662	TNKS1BP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TNKS1BP1	HGNC	protein_coding	OTTHUMT00000392455.1	G	NM_033396		57080263	-1	no_errors	ENST00000358252	ensembl	human	known	70_37	silent	SNP	0.849	A
TNRC6A	27327	genome.wustl.edu	37	16	24800641	24800641	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:24800641G>A	ENST00000395799.3	+	6	807	c.678G>A	c.(676-678)aaG>aaA	p.K226K	TNRC6A_ENST00000315183.7_Silent_p.K226K	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	226	Interaction with argonaute family proteins.|Ser-rich.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CAAACTGTAAGAATGCTGTTG	0.458																																																	0													67.0	72.0	71.0					16																	24800641		2179	4290	6469	SO:0001819	synonymous_variant	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.678G>A	16.37:g.24800641G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Silent	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.K226	ENST00000395799.3	37	c.678	CCDS10624.2	16																																																																																			TNRC6A	-	NULL		0.458	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	G	NM_020847		24800641	+1	no_errors	ENST00000395799	ensembl	human	known	70_37	silent	SNP	1.000	A
TOB2	10766	genome.wustl.edu	37	22	41832533	41832533	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:41832533C>G	ENST00000327492.3	-	2	1523	c.817G>C	c.(817-819)Gat>Cat	p.D273H		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	273					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						tcggccgcatcaaagaagagg	0.622																																																	0													24.0	23.0	23.0					22																	41832533		2202	4300	6502	SO:0001583	missense	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.817G>C	22.37:g.41832533C>G	ENSP00000331305:p.Asp273His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.D273H	ENST00000327492.3	37	c.817	CCDS14015.1	22	.	.	.	.	.	.	.	.	.	.	C	14.10	2.434115	0.43224	.	.	ENSG00000183864	ENST00000327492	T	0.51817	0.69	6.17	6.17	0.99709	.	0.055103	0.64402	D	0.000001	T	0.45094	0.1325	L	0.46157	1.445	0.80722	D	1	P	0.41265	0.744	B	0.39027	0.288	T	0.19811	-1.0294	10	0.15499	T	0.54	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	273	Q14106	TOB2_HUMAN	H	273	ENSP00000331305:D273H	ENSP00000331305:D273H	D	-	1	0	TOB2	40162479	1.000000	0.71417	0.777000	0.31699	0.106000	0.19336	7.058000	0.76676	2.941000	0.99782	0.655000	0.94253	GAT	TOB2	-	NULL		0.622	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOB2	HGNC	protein_coding	OTTHUMT00000320699.1	C	NM_016272		41832533	-1	no_errors	ENST00000327492	ensembl	human	known	70_37	missense	SNP	0.999	G
TOB2	10766	genome.wustl.edu	37	22	41833211	41833211	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:41833211C>T	ENST00000327492.3	-	2	845	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	47					female gamete generation (GO:0007292)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoclast differentiation (GO:0045671)|positive regulation of ossification (GO:0045778)|regulation of gene expression (GO:0010468)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						AGTGGCTTCTCAGGGTACCAG	0.597																																																	0													31.0	31.0	31.0					22																	41833211		2203	4300	6503	SO:0001583	missense	10766			D64109	CCDS14015.1	22q13.2	2010-02-26			ENSG00000183864	ENSG00000183864			11980	protein-coding gene	gene with protein product		607396		TROB2		10602502, 10591208	Standard	XM_005261315		Approved	TOBL, TOB4, bK223H9	uc003azz.1	Q14106	OTTHUMG00000150970	ENST00000327492.3:c.139G>A	22.37:g.41833211C>T	ENSP00000331305:p.Glu47Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FHR7|Q6PIT9|Q9BY97|Q9UBI0	Missense_Mutation	SNP	pfam_Anti_prolifrtn,pfam_Ataxin-2_C,smart_Anti_prolifrtn,prints_Anti_prolifrtn	p.E47K	ENST00000327492.3	37	c.139	CCDS14015.1	22	.	.	.	.	.	.	.	.	.	.	C	16.23	3.063543	0.55432	.	.	ENSG00000183864	ENST00000327492;ENST00000434408	T	0.50813	0.73	5.82	4.77	0.60923	Anti-proliferative protein (4);	0.407102	0.26590	N	0.023522	T	0.57242	0.2040	M	0.87456	2.885	0.58432	D	0.999999	B	0.16396	0.017	B	0.16722	0.016	T	0.61272	-0.7096	10	0.72032	D	0.01	.	16.6961	0.85336	0.0:0.8704:0.1296:0.0	.	47	Q14106	TOB2_HUMAN	K	47	ENSP00000331305:E47K	ENSP00000331305:E47K	E	-	1	0	TOB2	40163157	1.000000	0.71417	0.148000	0.22405	0.853000	0.48598	5.708000	0.68377	1.411000	0.46957	0.655000	0.94253	GAG	TOB2	-	pfam_Anti_prolifrtn,smart_Anti_prolifrtn,prints_Anti_prolifrtn		0.597	TOB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOB2	HGNC	protein_coding	OTTHUMT00000320699.1	C	NM_016272		41833211	-1	no_errors	ENST00000327492	ensembl	human	known	70_37	missense	SNP	0.962	T
TOP2A	7153	genome.wustl.edu	37	17	38562849	38562849	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:38562849G>C	ENST00000423485.1	-	15	1988	c.1830C>G	c.(1828-1830)gtC>gtG	p.V610V		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	610					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TGTAATATTTGACTTTCCATT	0.313																																																	0													122.0	113.0	116.0					17																	38562849		1794	4068	5862	SO:0001819	synonymous_variant	7153				CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.1830C>G	17.37:g.38562849G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	pfam_Topo_IIA_A/C,pfam_Topo_IIA_bsu_dom2,pfam_DTHCT,pfam_ATPase-like_ATP-bd,superfamily_Topo_IIA_cen,superfamily_ATPase-like_ATP-bd,superfamily_Ribosomal_S5_D2-typ_fold,smart_Topo_IIA,smart_Topo_IIA_A/C,prints_TopoII_euk,prints_Topo_IIA,prints_Transcrpt_fac_CBFA/NFYB_topo	p.V610	ENST00000423485.1	37	c.1830	CCDS45672.1	17																																																																																			TOP2A	-	superfamily_Topo_IIA_cen,smart_Topo_IIA,prints_Topo_IIA		0.313	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP2A	HGNC	protein_coding	OTTHUMT00000338035.1	G			38562849	-1	no_errors	ENST00000423485	ensembl	human	known	70_37	silent	SNP	1.000	C
TOX3	27324	genome.wustl.edu	37	16	52498040	52498040	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:52498040G>A	ENST00000219746.9	-	3	498	c.214C>T	c.(214-216)Cct>Tct	p.P72S	TOX3_ENST00000407228.3_Missense_Mutation_p.P67S	NM_001080430.2	NP_001073899.2	O15405	TOX3_HUMAN	TOX high mobility group box family member 3	72					apoptotic process (GO:0006915)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)			NS(2)|endometrium(6)|kidney(1)|lung(8)|prostate(3)|stomach(3)|upper_aerodigestive_tract(1)	24						GACTCTGGAGGAGGCGTGATT	0.502																																																	0													133.0	148.0	143.0					16																	52498040		2082	4207	6289	SO:0001583	missense	27324			U80736	CCDS54008.1, CCDS54009.1	16q12.1	2008-02-05	2007-03-20	2007-03-20		ENSG00000103460		"""Trinucleotide (CAG) repeat containing"""	11972	protein-coding gene	gene with protein product		611416	"""trinucleotide repeat containing 9"""	TNRC9		9225980	Standard	NM_001080430		Approved	CAGF9	uc002egw.2	O15405		ENST00000219746.9:c.214C>T	16.37:g.52498040G>A	ENSP00000219746:p.Pro72Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRD0|B5MCW4	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P72S	ENST00000219746.9	37	c.214	CCDS54009.1	16	.	.	.	.	.	.	.	.	.	.	G	22.0	4.223721	0.79576	.	.	ENSG00000103460	ENST00000219746;ENST00000407228	T;T	0.13657	2.62;2.57	5.9	5.9	0.94986	.	0.000000	0.85682	D	0.000000	T	0.41789	0.1174	M	0.78049	2.395	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.69307	0.963;0.941	T	0.16689	-1.0394	10	0.72032	D	0.01	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	67;72	B4DRD0;O15405	.;TOX3_HUMAN	S	72;67	ENSP00000219746:P72S;ENSP00000385705:P67S	ENSP00000219746:P72S	P	-	1	0	TOX3	51055541	1.000000	0.71417	1.000000	0.80357	0.713000	0.41058	9.869000	0.99810	2.806000	0.96561	0.655000	0.94253	CCT	TOX3	-	NULL		0.502	TOX3-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TOX3	HGNC	protein_coding	OTTHUMT00000422534.1	G	XM_049037		52498040	-1	no_errors	ENST00000219746	ensembl	human	known	70_37	missense	SNP	1.000	A
TP53	7157	genome.wustl.edu	37	17	7573977	7573977	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:7573977G>C	ENST00000269305.4	-	10	1239	c.1050C>G	c.(1048-1050)ctC>ctG	p.L350L	TP53_ENST00000420246.2_3'UTR|TP53_ENST00000445888.2_Silent_p.L350L|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	350	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.				apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.K351fs*19(1)|p.L350L(1)|p.L350fs*28(1)|p.?(1)|p.I332fs*5(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGGCATCCTTGAGTTCCAAGG	0.592		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	13	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(1)|Substitution - coding silent(1)	bone(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|urinary_tract(2)|large_intestine(1)|stomach(1)|skin(1)											60.0	46.0	51.0					17																	7573977		2203	4300	6503	SO:0001819	synonymous_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.1050C>G	17.37:g.7573977G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.L350	ENST00000269305.4	37	c.1050	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor		0.592	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	G	NM_000546		7573977	-1	no_errors	ENST00000269305	ensembl	human	known	70_37	silent	SNP	0.924	C
TP53I3	9540	genome.wustl.edu	37	2	24300579	24300579	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:24300579G>C	ENST00000238721.4	-	5	1723	c.869C>G	c.(868-870)tCc>tGc	p.S290C	TP53I3_ENST00000313482.4_Silent_p.L224L|TP53I3_ENST00000335934.4_Missense_Mutation_p.S290C|SF3B14_ENST00000233468.4_5'Flank|TP53I3_ENST00000407482.1_Silent_p.L224L|TP53I3_ENST00000417886.1_5'Flank|FAM228B_ENST00000461972.1_Intron	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	290					NADP metabolic process (GO:0006739)	extracellular vesicular exosome (GO:0070062)	NADPH binding (GO:0070402)|NADPH:quinone reductase activity (GO:0003960)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCTCCGTGGAGAAGTGAGG	0.532																																																	0													84.0	75.0	78.0					2																	24300579		2203	4300	6503	SO:0001583	missense	9540			AF010309	CCDS1708.1, CCDS56112.1	2p23.3	2009-06-12			ENSG00000115129	ENSG00000115129			19373	protein-coding gene	gene with protein product		605171				11919562, 10840161, 19349281	Standard	NM_004881		Approved	PIG3	uc002rez.2	Q53FA7	OTTHUMG00000090817	ENST00000238721.4:c.869C>G	2.37:g.24300579G>C	ENSP00000238721:p.Ser290Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W533|O14679|O14685|Q38G78|Q6JLE7|Q9BWB8	Missense_Mutation	SNP	pfam_ADH_C,pfam_ADH_GroES-like,superfamily_GroES-like,smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3	p.S290C	ENST00000238721.4	37	c.869	CCDS1708.1	2	.	.	.	.	.	.	.	.	.	.	G	16.34	3.095280	0.56075	.	.	ENSG00000115129	ENST00000335934;ENST00000238721	T;T	0.30448	1.53;1.53	5.07	5.07	0.68467	.	0.297152	0.24010	N	0.042392	T	0.27384	0.0672	.	.	.	0.80722	D	1	B;B	0.17268	0.021;0.006	B;B	0.09377	0.004;0.002	T	0.04579	-1.0941	9	0.59425	D	0.04	-27.4472	13.7876	0.63119	0.0:0.2742:0.7258:0.0	.	201;290	B4DMQ7;Q53FA7	.;QORX_HUMAN	C	290	ENSP00000337834:S290C;ENSP00000238721:S290C	ENSP00000238721:S290C	S	-	2	0	TP53I3	24154083	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	3.771000	0.55318	2.521000	0.84997	0.655000	0.94253	TCC	TP53I3	-	smart_PKS_ER,tigrfam_Quinone_OxRdtase_PIG3		0.532	TP53I3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53I3	HGNC	protein_coding	OTTHUMT00000207618.2	G	NM_004881		24300579	-1	no_errors	ENST00000238721	ensembl	human	known	70_37	missense	SNP	0.988	C
TP53RK	112858	genome.wustl.edu	37	20	45315590	45315590	+	3'UTR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:45315590G>C	ENST00000372102.3	-	0	594				RP1-28H20.3_ENST00000606362.1_lincRNA			Q96S44	PRPK_HUMAN	TP53 regulating kinase						lipopolysaccharide biosynthetic process (GO:0009103)|protein phosphorylation (GO:0006468)|tRNA processing (GO:0008033)	membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|hydrolase activity (GO:0016787)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)			kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GTGCTGAAATGAAACTCAGCC	0.488																																																	0													128.0	119.0	122.0					20																	45315590		2203	4300	6503	SO:0001624	3_prime_UTR_variant	112858				CCDS13401.1	20q13.2	2014-05-14	2004-05-10	2004-05-12	ENSG00000172315	ENSG00000172315			16197	protein-coding gene	gene with protein product		608679	"""chromosome 20 open reading frame 64"""	C20orf64		11546806, 12914926	Standard	NM_033550		Approved	dJ101A2.2, prpk, Nori-2p, BUD32	uc002xsk.3	Q96S44	OTTHUMG00000085887	ENST00000372102.3:c.*203C>G	20.37:g.45315590G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU44|Q3T977|Q5JZ01|Q6NZ60|Q96FM7|Q9NQE6	Missense_Mutation	SNP	pfam_LipoPS_kinase,pfam_Prot_kinase_cat_dom,pfam_RIO-like_kinase,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Kae1-assoc_kinase_Bud32	p.F188L	ENST00000372102.3	37	c.564		20	.	.	.	.	.	.	.	.	.	.	G	10.98	1.503782	0.26949	.	.	ENSG00000172315	ENST00000372114	T	0.10668	2.85	5.16	1.97	0.26223	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.050488	0.85682	D	0.000000	T	0.13670	0.0331	M	0.75150	2.29	0.80722	D	1	P	0.45957	0.869	P	0.45167	0.472	T	0.12993	-1.0526	10	0.19147	T	0.46	-24.6672	6.7147	0.23296	0.4191:0.0:0.5809:0.0	.	188	Q96S44	PRPK_HUMAN	L	188	ENSP00000361186:F188L	ENSP00000361186:F188L	F	-	3	2	TP53RK	44748997	1.000000	0.71417	0.111000	0.21465	0.002000	0.02628	3.125000	0.50469	0.731000	0.32448	0.655000	0.94253	TTC	TP53RK	-	pfam_LipoPS_kinase,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom,tigrfam_Kae1-assoc_kinase_Bud32		0.488	TP53RK-002	KNOWN	basic	protein_coding	TP53RK	HGNC	protein_coding	OTTHUMT00000193688.1	G	NM_033550		45315590	-1	no_errors	ENST00000372114	ensembl	human	known	70_37	missense	SNP	0.997	C
TP73	7161	genome.wustl.edu	37	1	3598993	3598993	+	Splice_Site	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:3598993C>T	ENST00000378295.4	+	2	219	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	TP73_ENST00000604074.1_Splice_Site_p.L22L|TP73_ENST00000357733.3_Splice_Site_p.L22L|TP73_ENST00000603362.1_Splice_Site_p.L22L|TP73_ENST00000346387.4_Splice_Site_p.L22L|TP73_ENST00000604479.1_Splice_Site_p.L22L|TP73_ENST00000354437.4_Splice_Site_p.L22L	NM_001204185.1|NM_005427.3	NP_001191114.1|NP_005418.1	O15350	P73_HUMAN	tumor protein p73	22	Asp/Glu-rich (acidic).|Transactivation. {ECO:0000250}.				activation of MAPK activity (GO:0000187)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|cerebrospinal fluid secretion (GO:0033326)|digestive tract morphogenesis (GO:0048546)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|hippocampus development (GO:0021766)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|kidney development (GO:0001822)|mismatch repair (GO:0006298)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron development (GO:0048666)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell size (GO:0045793)|positive regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:1902167)|positive regulation of oligodendrocyte differentiation (GO:0048714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|post-embryonic development (GO:0009791)|protein tetramerization (GO:0051262)|release of cytochrome c from mitochondria (GO:0001836)|response to gamma radiation (GO:0010332)|response to organonitrogen compound (GO:0010243)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|cytosol (GO:0005829)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|p53 binding (GO:0002039)|protein kinase binding (GO:0019901)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|lung(8)|ovary(1)|prostate(1)	20	all_cancers(77;0.0395)|Ovarian(185;0.0634)|Lung NSC(156;0.188)|all_lung(157;0.198)	all_epithelial(116;7.42e-17)|all_lung(118;1.86e-06)|Lung NSC(185;0.000163)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.109)|Ovarian(437;0.127)		Epithelial(90;5.57e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.87e-22)|GBM - Glioblastoma multiforme(42;5.72e-16)|Colorectal(212;2.22e-05)|COAD - Colon adenocarcinoma(227;8.48e-05)|Kidney(185;0.000539)|BRCA - Breast invasive adenocarcinoma(365;0.000868)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.00751)|Lung(427;0.226)		CTGGAGCTCTCTGTGAGTGCG	0.692																																																	0													21.0	20.0	20.0					1																	3598993		2173	4280	6453	SO:0001630	splice_region_variant	7161			AB055065	CCDS49.1, CCDS44049.1, CCDS44050.1, CCDS44051.1, CCDS55566.1, CCDS55567.1, CCDS55568.1, CCDS55569.1, CCDS59965.1	1p36.3	2010-06-15			ENSG00000078900	ENSG00000078900			12003	protein-coding gene	gene with protein product		601990				9296498, 9288759	Standard	NM_001204186		Approved	P73	uc001akp.3	O15350	OTTHUMG00000000610	ENST00000378295.4:c.65+1C>T	1.37:g.3598993C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7J4|B7Z8Z1|B7Z9C1|C9J521|O15351|Q17RN8|Q5TBV5|Q5TBV6|Q8NHW9|Q8TDY5|Q8TDY6|Q9NTK8	Silent	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_SAM_2,superfamily_p53-like_TF_DNA-bd,superfamily_SAM/pointed,superfamily_p53_tetrameristn,smart_SAM,prints_p53_tumour_suppressor	p.L22	ENST00000378295.4	37	c.64	CCDS49.1	1																																																																																			TP73	-	NULL		0.692	TP73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP73	HGNC	protein_coding	OTTHUMT00000001468.4	C	NM_005427	Silent	3598993	+1	no_errors	ENST00000378295	ensembl	human	known	70_37	silent	SNP	0.986	T
TPO	7173	genome.wustl.edu	37	2	1457477	1457477	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:1457477G>T	ENST00000345913.4	+	6	585	c.494G>T	c.(493-495)aGa>aTa	p.R165I	TPO_ENST00000346956.3_Missense_Mutation_p.R165I|TPO_ENST00000497517.2_Intron|TPO_ENST00000382201.3_Missense_Mutation_p.R165I|TPO_ENST00000329066.4_Missense_Mutation_p.R165I|TPO_ENST00000382198.1_Missense_Mutation_p.R165I|TPO_ENST00000349624.3_Missense_Mutation_p.R165I|TPO_ENST00000337415.3_Missense_Mutation_p.R165I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	165					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCACCCCAGATGGGGCGCC	0.562																																																	0													71.0	80.0	77.0					2																	1457477		2203	4300	6503	SO:0001583	missense	7173				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.494G>T	2.37:g.1457477G>T	ENSP00000318820:p.Arg165Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Missense_Mutation	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd,superfamily_Haem_peroxidase,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.R165I	ENST00000345913.4	37	c.494	CCDS1643.1	2	.	.	.	.	.	.	.	.	.	.	G	9.333	1.061093	0.19987	.	.	ENSG00000115705	ENST00000337415;ENST00000345913;ENST00000346956;ENST00000349624;ENST00000329066;ENST00000382201;ENST00000423320;ENST00000382198;ENST00000422464	T;T;T;T;T;T;T;T;T	0.73363	0.38;0.38;0.38;0.38;0.38;0.38;-0.74;0.38;0.38	5.27	3.39	0.38822	.	0.362433	0.29459	N	0.012087	T	0.76126	0.3944	L	0.57536	1.79	0.09310	N	0.999997	P;D;P;P	0.55172	0.878;0.97;0.935;0.9	P;P;P;P	0.51016	0.524;0.545;0.524;0.656	T	0.67444	-0.5669	10	0.23302	T	0.38	-5.7389	14.9613	0.71158	0.0:0.412:0.588:0.0	.	165;165;165;165	P07202-4;P07202-5;P07202-2;P07202	.;.;.;PERT_HUMAN	I	165;165;165;165;165;165;165;165;94	ENSP00000337263:R165I;ENSP00000318820:R165I;ENSP00000263886:R165I;ENSP00000332044:R165I;ENSP00000329869:R165I;ENSP00000371636:R165I;ENSP00000390994:R165I;ENSP00000371633:R165I;ENSP00000405788:R94I	ENSP00000329869:R165I	R	+	2	0	TPO	1436484	0.015000	0.18098	0.112000	0.21494	0.032000	0.12392	1.735000	0.38176	0.537000	0.28751	0.557000	0.71058	AGA	TPO	-	pfam_Haem_peroxidase_animal,superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal		0.562	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2	G	NM_000547		1457477	+1	no_errors	ENST00000329066	ensembl	human	known	70_37	missense	SNP	0.006	T
TPP2	7174	genome.wustl.edu	37	13	103268843	103268843	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:103268843C>G	ENST00000376065.4	+	4	524	c.488C>G	c.(487-489)tCt>tGt	p.S163C	TPP2_ENST00000376052.3_Missense_Mutation_p.S163C	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	163	Peptidase S8.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AACAACGGCTCTTCTCAAGTT	0.408																																																	0													85.0	90.0	88.0					13																	103268843		2203	4300	6503	SO:0001583	missense	7174			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.488C>G	13.37:g.103268843C>G	ENSP00000365233:p.Ser163Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.S163C	ENST00000376065.4	37	c.488	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	C	15.66	2.899097	0.52227	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.55	3.79	0.43588	Peptidase S8/S53, subtilisin/kexin/sedolisin (2);	0.310776	0.35555	N	0.003121	T	0.37019	0.0988	L	0.46157	1.445	0.30882	N	0.731274	P	0.46142	0.873	P	0.44623	0.455	T	0.44467	-0.9326	9	0.56958	D	0.05	.	6.5593	0.22478	0.1347:0.6661:0.1299:0.0692	.	163	P29144	TPP2_HUMAN	C	163	.	ENSP00000365220:S163C	S	+	2	0	TPP2	102066844	1.000000	0.71417	0.958000	0.39756	0.967000	0.64934	2.303000	0.43646	0.792000	0.33850	0.585000	0.79938	TCT	TPP2	-	pfam_Peptidase_S8/S53,superfamily_Peptidase_S8/S53		0.408	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	C			103268843	+1	no_errors	ENST00000376065	ensembl	human	known	70_37	missense	SNP	0.998	G
TPRA1	131601	genome.wustl.edu	37	3	127294479	127294479	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:127294479C>T	ENST00000355552.3	-	8	1047				TPRA1_ENST00000465915.1_5'UTR|TPRA1_ENST00000296210.7_Intron|TPRA1_ENST00000489960.1_Intron|TPRA1_ENST00000450633.2_Intron	NM_001136053.1	NP_001129525.1	Q86W33	TPRA1_HUMAN	transmembrane protein, adipocyte asscociated 1						aging (GO:0007568)|G-protein coupled receptor signaling pathway (GO:0007186)|lipid metabolic process (GO:0006629)	integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	9						CCAGGGCTCTCCAGCTCCCAG	0.682											OREG0015772	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	131601			AK056759	CCDS3042.1, CCDS46899.1	3q21.2	2012-08-22	2009-07-08	2009-07-08	ENSG00000163870	ENSG00000163870		"""GPCR / Unclassified : 7TM orphan receptors"""	30413	protein-coding gene	gene with protein product	"""transmembrane protein 227"""	608336	"""G protein-coupled receptor 175"""	GPR175		10342878	Standard	NM_001136053		Approved	TPRA40, FLJ32197, TMEM227	uc003ejn.3	Q86W33	OTTHUMG00000159639	ENST00000355552.3:c.670+112G>A	3.37:g.127294479C>T		Somatic	1556	WXS	Illumina HiSeq	Phase_IV	A8MVB8|D3DNA9|Q8WZ24|Q96AJ6|Q9P2R4	RNA	SNP	-	NULL	ENST00000355552.3	37	NULL	CCDS3042.1	3																																																																																			TPRA1	-	-		0.682	TPRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRA1	HGNC	protein_coding	OTTHUMT00000356624.1	C	NM_016372		127294479	-1	no_errors	ENST00000465915	ensembl	human	known	70_37	rna	SNP	0.330	T
TPRN	286262	genome.wustl.edu	37	9	140086993	140086993	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:140086993C>G	ENST00000409012.4	-	2	1962	c.1876G>C	c.(1876-1878)Gag>Cag	p.E626Q	TPRN_ENST00000541945.1_5'Flank|TPRN_ENST00000321773.2_Missense_Mutation_p.E565Q	NM_001128228.2	NP_001121700.2	Q4KMQ1	TPRN_HUMAN	taperin	626	Glu-rich.				sensory perception of sound (GO:0007605)	stereocilium (GO:0032420)				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						GGCTTCTCCTCTGAGCCGGAT	0.627																																																	0													46.0	35.0	39.0					9																	140086993		2200	4299	6499	SO:0001583	missense	286262			AK074735	CCDS56594.1	9q34.3	2011-01-06	2010-03-24	2010-03-24	ENSG00000176058	ENSG00000176058			26894	protein-coding gene	gene with protein product		613354	"""chromosome 9 open reading frame 75"", ""deafness, autosomal recessive 79"""	C9orf75, DFNB79		20170898, 20170899	Standard	NM_001128228		Approved	FLJ90254	uc004clu.3	Q4KMQ1	OTTHUMG00000020984	ENST00000409012.4:c.1876G>C	9.37:g.140086993C>G	ENSP00000387100:p.Glu626Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKU5|Q5VSG5|Q5VSG6|Q6IPP2|Q8NCH2	Missense_Mutation	SNP	NULL	p.E626Q	ENST00000409012.4	37	c.1876	CCDS56594.1	9	.	.	.	.	.	.	.	.	.	.	C	5.208	0.223842	0.09863	.	.	ENSG00000176058	ENST00000333046;ENST00000409012;ENST00000321773	.	.	.	4.41	2.37	0.29283	.	0.556638	0.16046	N	0.232174	T	0.21186	0.0510	N	0.14661	0.345	0.09310	N	0.999996	D	0.59357	0.985	P	0.51974	0.686	T	0.08086	-1.0739	9	0.17369	T	0.5	.	5.0064	0.14289	0.0:0.6619:0.2069:0.1312	.	626	Q4KMQ1	TPRN_HUMAN	Q	424;626;565	.	ENSP00000313704:E565Q	E	-	1	0	TPRN	139206814	0.154000	0.22792	0.217000	0.23759	0.523000	0.34469	2.532000	0.45659	0.384000	0.24942	0.561000	0.74099	GAG	TPRN	-	NULL		0.627	TPRN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPRN	HGNC	protein_coding	OTTHUMT00000055323.3	C	NM_173691		140086993	-1	no_errors	ENST00000409012	ensembl	human	known	70_37	missense	SNP	0.300	G
TPTE2P6	374491	genome.wustl.edu	37	13	25171562	25171562	+	RNA	SNP	C	C	T	rs376135054		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:25171562C>T	ENST00000453498.1	+	0	1458				TPTE2P6_ENST00000440905.1_RNA																							TAATCCACATCAACAAAAAGC	0.368																																																	0																																												374491																															13.37:g.25171562C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000453498.1	37	NULL		13																																																																																			TPTE2P6	-	-		0.368	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	TPTE2P6	HGNC	processed_transcript	OTTHUMT00000044193.1	C			25171562	+1	no_errors	ENST00000440905	ensembl	human	known	70_37	rna	SNP	0.234	T
TRABD2B	388630	genome.wustl.edu	37	1	48231630	48231630	+	Missense_Mutation	SNP	C	C	T	rs61739636	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:48231630C>T	ENST00000606738.2	-	7	1603	c.1498G>A	c.(1498-1500)Gcc>Acc	p.A500T	RP11-543D5.2_ENST00000438589.1_lincRNA	NM_001194986.1	NP_001181915.1	A6NFA1	TIKI2_HUMAN	TraB domain containing 2B	500					metabolic process (GO:0008152)|negative regulation of Wnt signaling pathway (GO:0030178)|protein oxidation (GO:0018158)|Wnt signaling pathway (GO:0016055)	extracellular vesicular exosome (GO:0070062)|integral component of organelle membrane (GO:0031301)|integral component of plasma membrane (GO:0005887)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|Wnt-protein binding (GO:0017147)										GTGGCGATGGCGGGGAGAAGG	0.667													C|||	5	0.000998403	0.0	0.0	5008	,	,		13495	0.0		0.005	False		,,,				2504	0.0																0																																										SO:0001583	missense	388630				CCDS58000.1	1p33	2012-07-04			ENSG00000204018				44200	protein-coding gene	gene with protein product		614913					Standard	NM_001194986		Approved		uc021ong.1	A6NFA1	OTTHUMG00000007960	ENST00000606738.2:c.1498G>A	1.37:g.48231630C>T	ENSP00000476820:p.Ala500Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	I6U4Y0	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.A500T	ENST00000606738.2	37	c.1498	CCDS58000.1	1																																																																																			TRABD2B	-	NULL		0.667	TRABD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRABD2B	HGNC	protein_coding	OTTHUMT00000021842.3	C	NM_001194986		48231630	-1	no_errors	ENST00000371865	ensembl	human	known	70_37	missense	SNP	0.000	T
TRANK1	9881	genome.wustl.edu	37	3	36893237	36893237	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:36893237G>C	ENST00000429976.2	-	14	4975	c.4728C>G	c.(4726-4728)ctC>ctG	p.L1576L	TRANK1_ENST00000463984.1_5'Flank|TRANK1_ENST00000301807.6_Silent_p.L1026L|TRANK1_ENST00000428977.2_Silent_p.L1026L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1576							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTGTAAAGGAGGACATCAT	0.383																																																	0													73.0	72.0	72.0					3																	36893237		1845	4084	5929	SO:0001819	synonymous_variant	9881			AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.4728C>G	3.37:g.36893237G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N8K0	Silent	SNP	pfam_UvrD-like_ATP-bd,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom	p.L1576	ENST00000429976.2	37	c.4728	CCDS46789.2	3																																																																																			TRANK1	-	NULL		0.383	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	TRANK1	HGNC	protein_coding		G	NM_014831		36893237	-1	no_errors	ENST00000429976	ensembl	human	known	70_37	silent	SNP	1.000	C
TRAPPC12	51112	genome.wustl.edu	37	2	3481508	3481508	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:3481508G>A	ENST00000324266.5	+	10	2014	c.1819G>A	c.(1819-1821)Gag>Aag	p.E607K	TRAPPC12_ENST00000382110.2_Missense_Mutation_p.E607K	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	607					vesicle-mediated transport (GO:0016192)												TCAAGACGTTGAGAAAGTAAC	0.289																																																	0													66.0	72.0	70.0					2																	3481508		2203	4299	6502	SO:0001583	missense	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.1819G>A	2.37:g.3481508G>A	ENSP00000324318:p.Glu607Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E607K	ENST00000324266.5	37	c.1819	CCDS1652.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542981	0.86022	.	.	ENSG00000171853	ENST00000382110;ENST00000304601;ENST00000324266;ENST00000415624	T;T;T	0.75367	-0.93;-0.93;-0.93	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	D	0.84880	0.5570	M	0.73962	2.25	0.80722	D	1	D;D	0.69078	0.992;0.997	P;P	0.61003	0.83;0.882	D	0.84023	0.0355	10	0.46703	T	0.11	.	19.3155	0.94211	0.0:0.0:1.0:0.0	.	596;607	E7ENL7;Q8WVT3	.;TPC12_HUMAN	K	607;596;607;106	ENSP00000371544:E607K;ENSP00000324318:E607K;ENSP00000396592:E106K	ENSP00000303612:E596K	E	+	1	0	TTC15	3460515	1.000000	0.71417	1.000000	0.80357	0.414000	0.31173	8.748000	0.91615	2.879000	0.98667	0.650000	0.86243	GAG	TRAPPC12	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.289	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	G	NM_016030		3481508	+1	no_errors	ENST00000324266	ensembl	human	known	70_37	missense	SNP	1.000	A
TRERF1	55809	genome.wustl.edu	37	6	42224486	42224486	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:42224486C>T	ENST00000372922.4	-	12	3122	c.2560G>A	c.(2560-2562)Gag>Aag	p.E854K	TRERF1_ENST00000372917.4_Missense_Mutation_p.E771K|TRERF1_ENST00000541110.1_Missense_Mutation_p.E874K|TRERF1_ENST00000354325.2_Missense_Mutation_p.E771K|TRERF1_ENST00000340840.2_Missense_Mutation_p.E771K	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	854	ELM2. {ECO:0000255|PROSITE- ProRule:PRU00512}.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTTTGGCCTCAAACAGAGAG	0.418																																																	0													122.0	115.0	118.0					6																	42224486		2203	4300	6503	SO:0001583	missense	55809			AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2560G>A	6.37:g.42224486C>T	ENSP00000362013:p.Glu854Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Missense_Mutation	SNP	pfam_ELM2_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_SANT/Myb,pfscan_ELM2_dom,pfscan_Znf_C2H2	p.E874K	ENST00000372922.4	37	c.2620	CCDS4867.1	6	.	.	.	.	.	.	.	.	.	.	C	18.70	3.679780	0.68042	.	.	ENSG00000124496	ENST00000541110;ENST00000372917;ENST00000372922;ENST00000340840;ENST00000354325	T;T;T;T;T	0.12569	2.74;2.67;2.74;2.67;2.67	5.74	5.74	0.90152	ELM2 domain (1);	0.000000	0.64402	D	0.000013	T	0.28200	0.0696	L	0.56199	1.76	0.80722	D	1	D;D;D;D;B	0.76494	0.999;0.999;0.999;0.999;0.296	D;D;D;D;P	0.75484	0.986;0.968;0.968;0.986;0.619	T	0.00438	-1.1739	10	0.56958	D	0.05	-29.3608	20.2982	0.98569	0.0:1.0:0.0:0.0	.	771;874;854;610;610	Q96PN7-4;Q05GC8;Q96PN7;Q96PN7-2;Q96PN7-3	.;.;TREF1_HUMAN;.;.	K	874;771;854;771;771	ENSP00000439689:E874K;ENSP00000362008:E771K;ENSP00000362013:E854K;ENSP00000339438:E771K;ENSP00000346285:E771K	ENSP00000339438:E771K	E	-	1	0	TRERF1	42332464	1.000000	0.71417	0.996000	0.52242	0.978000	0.69477	3.577000	0.53885	2.873000	0.98535	0.563000	0.77884	GAG	TRERF1	-	pfscan_ELM2_dom		0.418	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRERF1	HGNC	protein_coding	OTTHUMT00000040551.2	C	NM_033502		42224486	-1	no_errors	ENST00000541110	ensembl	human	known	70_37	missense	SNP	1.000	T
TRIM22	10346	genome.wustl.edu	37	11	5730382	5730382	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:5730382C>G	ENST00000379965.3	+	8	1278	c.1001C>G	c.(1000-1002)tCa>tGa	p.S334*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	334	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				defense response to virus (GO:0051607)|immune response (GO:0006955)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein trimerization (GO:0070206)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TTTAAGAATTCAAATCCATGT	0.438																																					GBM(104;491 2336 5222)												0													174.0	157.0	162.0					11																	5730382		1879	4115	5994	SO:0001587	stop_gained	10346			X82200	CCDS41612.1	11p15	2013-01-09	2011-01-25		ENSG00000132274	ENSG00000132274		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16379	protein-coding gene	gene with protein product		606559	"""tripartite motif-containing 22"""			11331580, 11096452	Standard	NM_006074		Approved	STAF50, GPSTAF50, RNF94	uc001mbr.3	Q8IYM9	OTTHUMG00000066904	ENST00000379965.3:c.1001C>G	11.37:g.5730382C>G	ENSP00000369299:p.Ser334*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05CQ0|Q15521	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.S334*	ENST00000379965.3	37	c.1001	CCDS41612.1	11	.	.	.	.	.	.	.	.	.	.	C	13.98	2.400087	0.42613	.	.	ENSG00000132274	ENST00000379965;ENST00000545338;ENST00000454828;ENST00000455293	.	.	.	3.97	-7.93	0.01156	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	0.9156	0.01304	0.3925:0.1113:0.2817:0.2145	.	.	.	.	X	334;145;302;256	.	ENSP00000369299:S334X	S	+	2	0	TRIM22	5686958	0.000000	0.05858	0.000000	0.03702	0.284000	0.27059	-3.108000	0.00601	-1.528000	0.01756	0.460000	0.39030	TCA	TRIM22	-	superfamily_ConA-like_lec_gl_sf,pfscan_B30.2/SPRY		0.438	TRIM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM22	HGNC	protein_coding	OTTHUMT00000143387.2	C	NM_006074		5730382	+1	no_errors	ENST00000379965	ensembl	human	known	70_37	nonsense	SNP	0.000	G
TRIM35	23087	genome.wustl.edu	37	8	27151768	27151768	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:27151768G>A	ENST00000305364.4	-	3	674	c.591C>T	c.(589-591)ttC>ttT	p.F197F	TRIM35_ENST00000521253.1_Silent_p.F165F	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	197					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)	p.F197F(1)		breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CCACTCTCAAGAACTCGCGAA	0.577																																																	1	Substitution - coding silent(1)	lung(1)											67.0	59.0	62.0					8																	27151768		2203	4300	6503	SO:0001819	synonymous_variant	23087			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.591C>T	8.37:g.27151768G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XQ0|Q8WVA4	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.F197	ENST00000305364.4	37	c.591	CCDS6056.2	8																																																																																			TRIM35	-	NULL		0.577	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	G	NM_171982		27151768	-1	no_errors	ENST00000305364	ensembl	human	known	70_37	silent	SNP	0.997	A
TRIM35	23087	genome.wustl.edu	37	8	27168491	27168491	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:27168491C>T	ENST00000305364.4	-	1	345	c.262G>A	c.(262-264)Gag>Aag	p.E88K	TRIM35_ENST00000521253.1_Missense_Mutation_p.E88K|PTK2B_ENST00000544172.1_5'Flank|PTK2B_ENST00000397501.1_5'Flank|PTK2B_ENST00000338238.4_5'Flank	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	88					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		CGCGCGCCCTCGGCCTCCTCG	0.682																																																	0													23.0	21.0	22.0					8																	27168491		2199	4299	6498	SO:0001583	missense	23087			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.262G>A	8.37:g.27168491C>T	ENSP00000301924:p.Glu88Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XQ0|Q8WVA4	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E88K	ENST00000305364.4	37	c.262	CCDS6056.2	8	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868409	0.51588	.	.	ENSG00000104228	ENST00000305364;ENST00000380544;ENST00000521253	T;T	0.68025	-0.09;-0.3	5.33	3.4	0.38934	.	0.258128	0.28327	N	0.015759	T	0.34077	0.0885	N	0.08118	0	0.28338	N	0.921476	P;P	0.39737	0.557;0.685	B;B	0.25614	0.062;0.041	T	0.23726	-1.0180	10	0.14656	T	0.56	.	8.659	0.34081	0.1706:0.6645:0.1648:0.0	.	88;88	E5RGB3;Q9UPQ4	.;TRI35_HUMAN	K	88	ENSP00000301924:E88K;ENSP00000428770:E88K	ENSP00000301924:E88K	E	-	1	0	TRIM35	27224408	0.001000	0.12720	0.962000	0.40283	0.703000	0.40648	0.724000	0.25954	1.196000	0.43129	0.462000	0.41574	GAG	TRIM35	-	NULL		0.682	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	C	NM_171982		27168491	-1	no_errors	ENST00000305364	ensembl	human	known	70_37	missense	SNP	0.570	T
TRIM54	57159	genome.wustl.edu	37	2	27505756	27505756	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:27505756G>A	ENST00000380075.2	+	1	497	c.157G>A	c.(157-159)Gac>Aac	p.D53N	TRIM54_ENST00000296098.4_Missense_Mutation_p.D53N	NM_187841.2	NP_912730.2	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	53					cell differentiation (GO:0030154)|microtubule-based process (GO:0007017)|multicellular organismal development (GO:0007275)|negative regulation of microtubule depolymerization (GO:0007026)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATGTGCCAACGACGTCTTCCA	0.592																																																	0													189.0	166.0	174.0					2																	27505756		2203	4300	6503	SO:0001583	missense	57159			AJ291714	CCDS1745.2, CCDS1746.2	2p23.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000138100	ENSG00000138100		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16008	protein-coding gene	gene with protein product		606474	"""ring finger protein 30"", ""tripartite motif-containing 54"""	RNF30		11243782	Standard	NM_032546		Approved	MURF, MURF-3	uc002rjn.3	Q9BYV2	OTTHUMG00000097078	ENST00000380075.2:c.157G>A	2.37:g.27505756G>A	ENSP00000369415:p.Asp53Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A5D8T7|Q53SY4|Q9BYV3	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,superfamily_Chorismate_mutase_type_II,smart_Znf_RING,smart_Znf_B-box,pfscan_Znf_B-box,pfscan_Znf_RING	p.D53N	ENST00000380075.2	37	c.157	CCDS1746.2	2	.	.	.	.	.	.	.	.	.	.	G	23.7	4.446763	0.84101	.	.	ENSG00000138100	ENST00000380075;ENST00000296098	D;D	0.84442	-1.85;-1.85	5.49	5.49	0.81192	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.73560	0.3602	N	0.10707	0.03	0.80722	D	1	B;P	0.34757	0.104;0.467	B;B	0.36808	0.103;0.233	T	0.72734	-0.4204	10	0.22706	T	0.39	-33.5923	16.858	0.86010	0.0:0.0:1.0:0.0	.	53;53	Q9BYV2;Q9BYV2-2	TRI54_HUMAN;.	N	53	ENSP00000369415:D53N;ENSP00000296098:D53N	ENSP00000296098:D53N	D	+	1	0	TRIM54	27359260	1.000000	0.71417	0.992000	0.48379	0.958000	0.62258	9.694000	0.98686	2.568000	0.86640	0.462000	0.41574	GAC	TRIM54	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.592	TRIM54-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM54	HGNC	protein_coding	OTTHUMT00000214199.2	G	NM_187841		27505756	+1	no_errors	ENST00000296098	ensembl	human	known	70_37	missense	SNP	1.000	A
TRIM59	286827	genome.wustl.edu	37	3	160155867	160155867	+	Missense_Mutation	SNP	G	G	C	rs557840155		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:160155867G>C	ENST00000309784.4	-	3	1290	c.1105C>G	c.(1105-1107)Cta>Gta	p.L369V	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	369					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAACAGATAGAGAGGCTTCA	0.303																																																	0													57.0	60.0	59.0					3																	160155867		2203	4297	6500	SO:0001583	missense	286827			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.1105C>G	3.37:g.160155867G>C	ENSP00000311219:p.Leu369Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5G9|D3DNL9	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,pfam_Znf_B-box,smart_Znf_RING,pfscan_Znf_B-box,pfscan_Znf_RING	p.L369V	ENST00000309784.4	37	c.1105	CCDS3190.1	3	.	.	.	.	.	.	.	.	.	.	g	5.602	0.295825	0.10622	.	.	ENSG00000213186	ENST00000309784	T	0.22743	1.94	5.54	-2.48	0.06423	.	0.621750	0.17960	N	0.156236	T	0.10423	0.0255	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.21930	-1.0231	9	.	.	.	-3.7601	0.8065	0.01085	0.2062:0.2335:0.3207:0.2396	.	369	Q8IWR1	TRI59_HUMAN	V	369	ENSP00000311219:L369V	.	L	-	1	2	TRIM59	161638561	0.000000	0.05858	0.009000	0.14445	0.930000	0.56654	-0.135000	0.10420	-0.493000	0.06678	-0.265000	0.10407	CTA	TRIM59	-	NULL		0.303	TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM59	HGNC	protein_coding	OTTHUMT00000352963.1	G	NM_173084		160155867	-1	no_errors	ENST00000309784	ensembl	human	known	70_37	missense	SNP	0.003	C
TRIM67	440730	genome.wustl.edu	37	1	231333131	231333131	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:231333131G>C	ENST00000366653.5	+	2	1059	c.1059G>C	c.(1057-1059)caG>caC	p.Q353H	TRIM67_ENST00000444294.3_Missense_Mutation_p.Q353H|TRIM67_ENST00000449018.3_Missense_Mutation_p.Q291H|TRIM67_ENST00000366652.2_Missense_Mutation_p.Q353H			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	353					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				AACTATCTCAGGCCTTAAATG	0.383																																																	0													128.0	117.0	120.0					1																	231333131		1879	4112	5991	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.1059G>C	1.37:g.231333131G>C	ENSP00000355613:p.Gln353His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,pfscan_Znf_B-box	p.Q353H	ENST00000366653.5	37	c.1059	CCDS44333.1	1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.592919	0.66219	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.64	4.54	0.55810	B-box, C-terminal (1);	0.130459	0.51477	D	0.000082	T	0.41558	0.1164	L	0.28458	0.855	0.48511	D	0.999663	B	0.20780	0.048	B	0.16289	0.015	T	0.25293	-1.0136	10	0.37606	T	0.19	.	15.4518	0.75279	0.0774:0.0:0.9226:0.0	.	353	Q6ZTA4	TRI67_HUMAN	H	353;353;291;353	ENSP00000412124:Q353H;ENSP00000355612:Q353H;ENSP00000400163:Q291H;ENSP00000355613:Q353H	ENSP00000355612:Q353H	Q	+	3	2	TRIM67	229399754	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	4.428000	0.59894	2.643000	0.89663	0.655000	0.94253	CAG	TRIM67	-	smart_Bbox_C		0.383	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	TRIM67	HGNC	protein_coding	OTTHUMT00000092649.3	G	NM_001004342		231333131	+1	no_errors	ENST00000366652	ensembl	human	known	70_37	missense	SNP	1.000	C
TRIP11	9321	genome.wustl.edu	37	14	92471742	92471742	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92471742C>G	ENST00000267622.4	-	11	2951	c.2578G>C	c.(2578-2580)Gag>Cag	p.E860Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	860					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTATTTTCCTCTTTCATGGAT	0.418			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													119.0	108.0	112.0					14																	92471742		2203	4300	6503	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.2578G>C	14.37:g.92471742C>G	ENSP00000267622:p.Glu860Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E860Q	ENST00000267622.4	37	c.2578	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.14|16.14	3.040060|3.040060	0.55003|0.55003	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.13538|.	2.58|.	6.04|6.04	6.04|6.04	0.98038|0.98038	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.76307|0.76307	0.3969|0.3969	M|M	0.66939|0.66939	2.045|2.045	0.58432|0.58432	D|D	0.999999|0.999999	D;D|.	0.89917|.	1.0;0.999|.	D;D|.	0.79784|.	0.993;0.99|.	T|T	0.72297|0.72297	-0.4335|-0.4335	10|5	0.32370|.	T|.	0.25|.	.|.	20.5948|20.5948	0.99439|0.99439	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	596;860|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	860;596|575	ENSP00000267622:E860Q|.	ENSP00000267622:E860Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91541495|91541495	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.128000|0.128000	0.20619|0.20619	7.580000|7.580000	0.82523|0.82523	2.873000|2.873000	0.98535|0.98535	0.563000|0.563000	0.77884|0.77884	GAG|AGA	TRIP11	-	NULL		0.418	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	C			92471742	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIP11	9321	genome.wustl.edu	37	14	92474016	92474016	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92474016C>G	ENST00000267622.4	-	10	1868	c.1495G>C	c.(1495-1497)Gaa>Caa	p.E499Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	499					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CTGTCCAATTCTTCTATCTCA	0.358			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													152.0	147.0	149.0					14																	92474016		2202	4298	6500	SO:0001583	missense	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.1495G>C	14.37:g.92474016C>G	ENSP00000267622:p.Glu499Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT2|O14689|O15154|O95949	Missense_Mutation	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.E499Q	ENST00000267622.4	37	c.1495	CCDS9899.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.99|14.99	2.701444|2.701444	0.48307|0.48307	.|.	.|.	ENSG00000100815|ENSG00000100815	ENST00000267622;ENST00000542257|ENST00000554357	T|.	0.09073|.	3.02|.	6.04|6.04	5.15|5.15	0.70609|0.70609	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75635|0.75635	0.3876|0.3876	M|M	0.77103|0.77103	2.36|2.36	0.45690|0.45690	D|D	0.998603|0.998603	P;D|.	0.89917|.	0.875;1.0|.	B;D|.	0.85130|.	0.341;0.997|.	T|T	0.76873|0.76873	-0.2798|-0.2798	10|5	0.66056|.	D|.	0.02|.	.|.	15.5041|15.5041	0.75725|0.75725	0.0:0.9339:0.0:0.0661|0.0:0.9339:0.0:0.0661	.|.	235;499|.	F5H1Z0;Q15643|.	.;TRIPB_HUMAN|.	Q|T	499;235|214	ENSP00000267622:E499Q|.	ENSP00000267622:E499Q|.	E|R	-|-	1|2	0|0	TRIP11|TRIP11	91543769|91543769	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.175000|0.175000	0.22909|0.22909	4.852000|4.852000	0.62904|0.62904	1.569000|1.569000	0.49696|0.49696	-0.291000|-0.291000	0.09656|0.09656	GAA|AGA	TRIP11	-	NULL		0.358	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	C			92474016	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	missense	SNP	1.000	G
TRIP11	9321	genome.wustl.edu	37	14	92505916	92505916	+	Silent	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:92505916C>A	ENST00000267622.4	-	1	487	c.114G>T	c.(112-114)ctG>ctT	p.L38L	TRIP11_ENST00000555105.1_5'UTR	NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	38					protein targeting to Golgi (GO:0000042)|regulation of RNA biosynthetic process (GO:2001141)|transcription from RNA polymerase II promoter (GO:0006366)|ventricular septum development (GO:0003281)	acrosomal membrane (GO:0002080)|cis-Golgi network (GO:0005801)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TGCCCTCCATCAGCATATCCT	0.577			T	PDGFRB	AML																																Ovarian(84;609 1888 9852 42686)			Dom	yes		14	14q31-q32	9321	thyroid hormone receptor interactor 11		L	0													78.0	64.0	69.0					14																	92505916		2203	4300	6503	SO:0001819	synonymous_variant	9321			L40380	CCDS9899.1	14q31-q32	2008-05-02				ENSG00000100815			12305	protein-coding gene	gene with protein product		604505				7776974, 9373237	Standard	NM_004239		Approved	CEV14, Trip230, GMAP-210	uc001xzy.3	Q15643		ENST00000267622.4:c.114G>T	14.37:g.92505916C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT2|O14689|O15154|O95949	Silent	SNP	superfamily_Ribosomal_L29,pfscan_GRIP	p.L38	ENST00000267622.4	37	c.114	CCDS9899.1	14																																																																																			TRIP11	-	NULL		0.577	TRIP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIP11	HGNC	protein_coding	OTTHUMT00000411823.1	C			92505916	-1	no_errors	ENST00000267622	ensembl	human	known	70_37	silent	SNP	0.167	A
TRMT44	152992	genome.wustl.edu	37	4	8467278	8467278	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:8467278C>A	ENST00000389737.4	+	8	1484	c.1484C>A	c.(1483-1485)tCa>tAa	p.S495*	TRMT44_ENST00000513449.2_Nonsense_Mutation_p.S254*	NM_152544.2	NP_689757.2	Q8IYL2	TRM44_HUMAN	tRNA methyltransferase 44 homolog (S. cerevisiae)	495					tRNA processing (GO:0008033)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										AGGATTCCTTCAACCAAAAGA	0.493																																																	0													79.0	76.0	77.0					4																	8467278		2203	4300	6503	SO:0001587	stop_gained	152992			AK093044	CCDS3402.1, CCDS3402.2	4p16.1	2012-06-12	2012-06-12	2012-06-12	ENSG00000155275	ENSG00000155275			26653	protein-coding gene	gene with protein product	"""tRNA methyltransferase 44 homolog (S. cerevisiae)"""	614309	"""chromosome 4 open reading frame 23"", ""methyltransferase like 19"""	C4orf23, METTL19		21658913	Standard	NM_152544		Approved	FLJ35725, TRM44	uc003glg.2	Q8IYL2	OTTHUMG00000160935	ENST00000389737.4:c.1484C>A	4.37:g.8467278C>A	ENSP00000374387:p.Ser495*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NA95	Nonsense_Mutation	SNP	pfam_tRNA_uracil_MeTrfase	p.S495*	ENST00000389737.4	37	c.1484	CCDS3402.2	4	.	.	.	.	.	.	.	.	.	.	C	39	7.666869	0.98422	.	.	ENSG00000155275	ENST00000513449;ENST00000389737;ENST00000285635	.	.	.	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.5005	17.6544	0.88174	0.0:1.0:0.0:0.0	.	.	.	.	X	254;495;103	.	ENSP00000285635:S103X	S	+	2	0	METTL19	8518178	1.000000	0.71417	0.440000	0.26846	0.943000	0.58893	6.660000	0.74417	2.370000	0.80446	0.650000	0.86243	TCA	TRMT44	-	NULL		0.493	TRMT44-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	TRMT44	HGNC	protein_coding	OTTHUMT00000359197.2	C	NM_152544		8467278	+1	no_errors	ENST00000389737	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TRPC1	7220	genome.wustl.edu	37	3	142521181	142521181	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:142521181C>G	ENST00000476941.1	+	10	2238	c.1752C>G	c.(1750-1752)ttC>ttG	p.F584L	TRPC1_ENST00000273482.6_Missense_Mutation_p.F550L|RNU7-47P_ENST00000515978.1_RNA	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	584					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						ATGATACCTTCCATTCGTGAG	0.318																																																	0													94.0	90.0	92.0					3																	142521181		2203	4300	6503	SO:0001583	missense	7220			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.1752C>G	3.37:g.142521181C>G	ENSP00000419313:p.Phe584Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.F584L	ENST00000476941.1	37	c.1752	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001858	0.74932	.	.	ENSG00000144935	ENST00000476941;ENST00000273482;ENST00000416210	D;D	0.99287	-5.69;-5.69	5.47	1.68	0.24146	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98943	0.9641	L	0.58669	1.825	0.80722	D	1	P;P;D	0.89917	0.884;0.951;1.0	P;P;D	0.91635	0.608;0.696;0.999	D	0.98400	1.0567	10	0.52906	T	0.07	-24.8872	10.581	0.45255	0.0:0.7523:0.0:0.2477	.	550;584;550	A7VJS2;P48995;P48995-2	.;TRPC1_HUMAN;.	L	584;550;103	ENSP00000419313:F584L;ENSP00000273482:F550L	ENSP00000273482:F550L	F	+	3	2	TRPC1	144003871	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.301000	0.33447	0.372000	0.24591	0.650000	0.86243	TTC	TRPC1	-	pfam_Ion_trans_dom,prints_TRPC1_channel,tigrfam_TRP_channel		0.318	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1	C	NM_003304		142521181	+1	no_errors	ENST00000476941	ensembl	human	known	70_37	missense	SNP	1.000	G
TRPC3	7222	genome.wustl.edu	37	4	122853864	122853864	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:122853864G>A	ENST00000379645.3	-	2	622	c.549C>T	c.(547-549)atC>atT	p.I183I	TRPC3_ENST00000264811.5_Silent_p.I110I|TRPC3_ENST00000513531.1_Silent_p.I110I	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	98					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						AGCCCTTGCTGATGGCGAGCA	0.652																																																	0													72.0	61.0	65.0					4																	122853864		2203	4300	6503	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.549C>T	4.37:g.122853864G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.I183	ENST00000379645.3	37	c.549	CCDS47130.1	4																																																																																			TRPC3	-	superfamily_Ankyrin_rpt-contain_dom,tigrfam_TRP_channel		0.652	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	G	NM_003305		122853864	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	silent	SNP	1.000	A
TRPM4	54795	genome.wustl.edu	37	19	49713601	49713601	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:49713601C>G	ENST00000252826.5	+	21	3393	c.3267C>G	c.(3265-3267)ctC>ctG	p.L1089L	TRPM4_ENST00000355712.5_Silent_p.L735L|TRPM4_ENST00000427978.2_Silent_p.L944L	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	1089	Calmodulin-binding.				calcium ion transmembrane transport (GO:0070588)|cardiac conduction (GO:0061337)|dendritic cell chemotaxis (GO:0002407)|ion transmembrane transport (GO:0034220)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell proliferation (GO:0008284)|protein sumoylation (GO:0016925)|regulation of membrane potential (GO:0042391)|regulation of T cell cytokine production (GO:0002724)|transmembrane transport (GO:0055085)|vasoconstriction (GO:0042310)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium activated cation channel activity (GO:0005227)|calcium channel activity (GO:0005262)			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCTCCTGCTCAGGCAATTGT	0.612																																																	0													46.0	47.0	47.0					19																	49713601		2203	4300	6503	SO:0001819	synonymous_variant	54795			AK000048	CCDS33073.1, CCDS56098.1	19q13.3	2011-12-14				ENSG00000130529		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17993	protein-coding gene	gene with protein product		606936				11535825, 16382100	Standard	NM_017636		Approved	FLJ20041	uc002pmw.3	Q8TD43		ENST00000252826.5:c.3267C>G	19.37:g.49713601C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU25|Q7Z5D9|Q96L84|Q9NXV1	Silent	SNP	pfam_Ion_trans_dom	p.L1089	ENST00000252826.5	37	c.3267	CCDS33073.1	19																																																																																			TRPM4	-	NULL		0.612	TRPM4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPM4	HGNC	protein_coding	OTTHUMT00000465543.2	C	NM_017636		49713601	+1	no_errors	ENST00000252826	ensembl	human	known	70_37	silent	SNP	0.967	G
TRPM6	140803	genome.wustl.edu	37	9	77376684	77376684	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:77376684G>A	ENST00000360774.1	-	27	4950	c.4713C>T	c.(4711-4713)gtC>gtT	p.V1571V	TRPM6_ENST00000451710.3_Silent_p.V1571V|TRPM6_ENST00000361255.3_Silent_p.V1566V|TRPM6_ENST00000449912.2_Silent_p.V1566V|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.V1571V	NM_017662.4	NP_060132.3	Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1571					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|response to toxic substance (GO:0009636)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium channel activity (GO:0005262)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTTCGCTTTGACCCATGCTC	0.413																																																	0													184.0	164.0	171.0					9																	77376684		2203	4300	6503	SO:0001819	synonymous_variant	140803			AK026281	CCDS6647.1, CCDS55318.1, CCDS55319.1	9q21.13	2011-12-14	2003-12-02		ENSG00000119121	ENSG00000119121		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17995	protein-coding gene	gene with protein product		607009	"""hypomagnesemia, secondary hypocalcemia"""	HOMG, HSH		10021370, 12032570, 16382100	Standard	NM_017662		Approved	CHAK2, FLJ22628	uc004ajk.1	Q9BX84	OTTHUMG00000020027	ENST00000360774.1:c.4713C>T	9.37:g.77376684G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6VPR8|Q6VPR9|Q6VPS0|Q6VPS1|Q6VPS2	Silent	SNP	pfam_MHCK_EF2_kinase,pfam_Ion_trans_dom,superfamily_Kinase-like_dom,smart_MHCK_EF2_kinase,pfscan_MHCK_EF2_kinase	p.V1571	ENST00000360774.1	37	c.4713	CCDS6647.1	9																																																																																			TRPM6	-	NULL		0.413	TRPM6-001	KNOWN	basic|CCDS	protein_coding	TRPM6	HGNC	protein_coding	OTTHUMT00000052693.1	G	NM_017662		77376684	-1	no_errors	ENST00000451710	ensembl	human	known	70_37	silent	SNP	0.961	A
TSC1	7248	genome.wustl.edu	37	9	135781123	135781123	+	Missense_Mutation	SNP	C	C	A	rs118203589		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:135781123C>A	ENST00000298552.3	-	15	2063	c.1842G>T	c.(1840-1842)aaG>aaT	p.K614N	TSC1_ENST00000545250.1_Missense_Mutation_p.K563N|TSC1_ENST00000440111.2_Missense_Mutation_p.K614N	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	614					activation of Rho GTPase activity (GO:0032862)|cardiac muscle cell differentiation (GO:0055007)|cell cycle arrest (GO:0007050)|cell projection organization (GO:0030030)|cell-matrix adhesion (GO:0007160)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|insulin receptor signaling pathway (GO:0008286)|kidney development (GO:0001822)|myelination (GO:0042552)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of translation (GO:0017148)|neural tube closure (GO:0001843)|positive regulation of focal adhesion assembly (GO:0051894)|potassium ion transport (GO:0006813)|protein heterooligomerization (GO:0051291)|protein stabilization (GO:0050821)|regulation of cell cycle (GO:0051726)|regulation of cell-matrix adhesion (GO:0001952)|regulation of phosphoprotein phosphatase activity (GO:0043666)|regulation of protein kinase activity (GO:0045859)|regulation of stress fiber assembly (GO:0051492)|regulation of translation (GO:0006417)|response to insulin (GO:0032868)|rRNA export from nucleus (GO:0006407)|synapse organization (GO:0050808)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|intracellular membrane-bounded organelle (GO:0043231)|lamellipodium (GO:0030027)|membrane (GO:0016020)|protein complex (GO:0043234)|TSC1-TSC2 complex (GO:0033596)	chaperone binding (GO:0051087)|GTPase regulator activity (GO:0030695)|protein N-terminus binding (GO:0047485)	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GATGGGCTGTCTTTGGCAATG	0.502			"""D, Mis, N, F, S"""			"""hamartoma, renal cell"""			Tuberous Sclerosis																														yes	Rec		Tuberous sclerosis 1	9	9q34	7248	tuberous sclerosis 1 gene		"""E, O"""	1	Unknown(1)	bone(1)											130.0	114.0	119.0					9																	135781123		2203	4300	6503	SO:0001583	missense	7248	Familial Cancer Database	TS, Tuberous Sclerosis Complex, TSC, Bourneville-Pringle disease	AF013168	CCDS6956.1, CCDS55350.1	9q34	2014-09-17			ENSG00000165699	ENSG00000165699			12362	protein-coding gene	gene with protein product		605284		TSC		9242607, 10806479	Standard	NM_000368		Approved	KIAA0243, LAM, hamartin	uc004cca.2	Q92574	OTTHUMG00000020844	ENST00000298552.3:c.1842G>T	9.37:g.135781123C>A	ENSP00000298552:p.Lys614Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z897|Q5VVN5	Missense_Mutation	SNP	pfam_Hamartin,superfamily_ARM-type_fold	p.K614N	ENST00000298552.3	37	c.1842	CCDS6956.1	9	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707022	0.68615	.	.	ENSG00000165699	ENST00000298552;ENST00000440111;ENST00000545250	D;D;D	0.90324	-2.65;-2.65;-2.65	5.94	5.05	0.67936	.	0.042171	0.85682	D	0.000000	D	0.93762	0.8006	M	0.70595	2.14	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.71656	0.974;0.962	D	0.93303	0.6678	10	0.49607	T	0.09	-23.7959	10.4359	0.44435	0.0:0.8527:0.0:0.1473	.	563;614	B7Z897;Q92574	.;TSC1_HUMAN	N	614;614;563	ENSP00000298552:K614N;ENSP00000394524:K614N;ENSP00000444017:K563N	ENSP00000298552:K614N	K	-	3	2	TSC1	134770944	1.000000	0.71417	1.000000	0.80357	0.885000	0.51271	2.814000	0.48010	1.528000	0.49103	-0.145000	0.13849	AAG	TSC1	-	pfam_Hamartin		0.502	TSC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC1	HGNC	protein_coding	OTTHUMT00000054799.1	C			135781123	-1	no_errors	ENST00000298552	ensembl	human	known	70_37	missense	SNP	1.000	A
TSKS	60385	genome.wustl.edu	37	19	50265447	50265447	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:50265447C>G	ENST00000246801.3	-	2	295	c.213G>C	c.(211-213)ctG>ctC	p.L71L	RNU6-841P_ENST00000383872.1_RNA	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	71					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GTTTGAGGTTCAGGCACCAGT	0.617																																																	0													80.0	58.0	66.0					19																	50265447		2203	4300	6503	SO:0001819	synonymous_variant	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.213G>C	19.37:g.50265447C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WXJ0	Silent	SNP	NULL	p.L71	ENST00000246801.3	37	c.213	CCDS12780.1	19																																																																																			TSKS	-	NULL		0.617	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	C	NM_021733		50265447	-1	no_errors	ENST00000246801	ensembl	human	known	70_37	silent	SNP	1.000	G
TSNARE1	203062	genome.wustl.edu	37	8	143361248	143361248	+	Intron	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:143361248C>T	ENST00000307180.3	-	11	1481				TSNARE1_ENST00000524325.1_Intron|TSNARE1_ENST00000520166.1_Intron|TSNARE1_ENST00000519651.1_Intron	NM_145003.3	NP_659440.2	Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1						intracellular protein transport (GO:0006886)|synaptic vesicle exocytosis (GO:0016079)	integral component of membrane (GO:0016021)|SNARE complex (GO:0031201)	SNAP receptor activity (GO:0005484)|SNARE binding (GO:0000149)			breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCTGGCCCTCGCCTTGGGGA	0.726																																																	0																																										SO:0001627	intron_variant	203062					8q24.3	2005-08-18							26437	protein-coding gene	gene with protein product						14702039	Standard	XM_005250828		Approved	FLJ31164	uc003ywk.3	Q96NA8		ENST00000307180.3:c.1363+4525G>A	8.37:g.143361248C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLB0|Q14D03	RNA	SNP	-	NULL	ENST00000307180.3	37	NULL	CCDS6384.1	8																																																																																			TSNARE1	-	-		0.726	TSNARE1-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSNARE1	HGNC	protein_coding		C	NM_145003		143361248	-1	no_errors	ENST00000521825	ensembl	human	putative	70_37	rna	SNP	0.078	T
TSPEAR	54084	genome.wustl.edu	37	21	45924684	45924684	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:45924684G>A	ENST00000323084.4	-	11	1900	c.1835C>T	c.(1834-1836)tCg>tTg	p.S612L	TSPEAR-AS1_ENST00000451035.1_RNA	NM_001272037.1|NM_144991.2	NP_001258966.1|NP_659428.2	Q8WU66	TSEAR_HUMAN	thrombospondin-type laminin G domain and EAR repeats	612					sensory perception of sound (GO:0007605)	cell surface (GO:0009986)|ciliary membrane (GO:0060170)|extracellular region (GO:0005576)|stereocilium (GO:0032420)				breast(1)|central_nervous_system(6)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	37						ACTGTTCACCGAGAAGGTACG	0.577																																																	0													78.0	75.0	76.0					21																	45924684		2203	4300	6503	SO:0001583	missense	54084			AJ487962	CCDS13712.1, CCDS74801.1	21q22.3	2012-10-30	2011-01-25	2011-01-25	ENSG00000175894	ENSG00000175894			1268	protein-coding gene	gene with protein product		612920	"""chromosome 21 open reading frame 29"", ""deafness, autosomal recessive 98"""	C21orf29, DFNB98		12095917, 22678063	Standard	NM_144991		Approved	MGC11251, TSP-EAR	uc002zfe.1	Q8WU66	OTTHUMG00000041215	ENST00000323084.4:c.1835C>T	21.37:g.45924684G>A	ENSP00000321987:p.Ser612Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_EPTP,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_EAR	p.S612L	ENST00000323084.4	37	c.1835	CCDS13712.1	21	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924246	0.34002	.	.	ENSG00000175894	ENST00000323084;ENST00000397918	D	0.85629	-2.01	4.72	-0.607	0.11615	.	0.626077	0.17067	N	0.188318	T	0.80121	0.4565	M	0.67953	2.075	0.80722	D	1	B	0.31227	0.314	B	0.28139	0.086	T	0.72033	-0.4412	10	0.49607	T	0.09	-17.7527	8.964	0.35865	0.4046:0.0:0.5954:0.0	.	612	Q8WU66	TSEAR_HUMAN	L	612;465	ENSP00000321987:S612L	ENSP00000321987:S612L	S	-	2	0	TSPEAR	44749112	1.000000	0.71417	0.252000	0.24328	0.450000	0.32258	3.916000	0.56416	-0.087000	0.12528	-0.355000	0.07637	TCG	TSPEAR	-	pfam_EPTP,pfscan_EAR		0.577	TSPEAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPEAR	HGNC	protein_coding	OTTHUMT00000098761.1	G	NM_144991		45924684	-1	no_errors	ENST00000323084	ensembl	human	known	70_37	missense	SNP	0.913	A
TTC25	83538	genome.wustl.edu	37	17	40092735	40092735	+	RNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40092735C>T	ENST00000591658.1	+	0	475							Q96NG3	TTC25_HUMAN	tetratricopeptide repeat domain 25							cytoplasm (GO:0005737)				endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				GGTCCTTCTTCCATTAAGCTG	0.512																																																	0													51.0	52.0	52.0					17																	40092735		1900	4105	6005			83538			AK055498	CCDS74063.1	17q21.2	2014-08-12			ENSG00000204815	ENSG00000204815		"""Tetratricopeptide (TTC) repeat domain containing"""	25280	protein-coding gene	gene with protein product							Standard	XM_006722129		Approved	DKFZP434H0115	uc002hyj.4	Q96NG3	OTTHUMG00000175837		17.37:g.40092735C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NX40|Q6PJ04|Q9H0K5	RNA	SNP	-	NULL	ENST00000591658.1	37	NULL		17	.	.	.	.	.	.	.	.	.	.	C	24.7	4.559431	0.86335	.	.	ENSG00000204815	ENST00000377540	.	.	.	6.04	6.04	0.98038	.	0.468558	0.24256	N	0.040123	T	0.79828	0.4513	M	0.80616	2.505	0.39069	D	0.960688	D;D	0.76494	0.967;0.999	P;D	0.69142	0.798;0.962	T	0.82090	-0.0629	8	0.72032	D	0.01	-16.2869	15.993	0.80220	0.0:0.8663:0.1337:0.0	.	136;136	C9JGW6;Q96NG3	.;TTC25_HUMAN	F	136	.	ENSP00000366763:S136F	S	+	2	0	AC091172.1	37346261	0.995000	0.38212	0.991000	0.47740	0.974000	0.67602	3.304000	0.51866	2.873000	0.98535	0.561000	0.74099	TCC	TTC25	-	-		0.512	TTC25-001	KNOWN	basic	processed_transcript	TTC25	HGNC	processed_transcript	OTTHUMT00000449237.1	C	NM_031421		40092735	+1	no_errors	ENST00000377540	ensembl	human	known	70_37	rna	SNP	0.997	T
TTC39A	22996	genome.wustl.edu	37	1	51774962	51774962	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:51774962G>C	ENST00000447632.2	-	6	615	c.567C>G	c.(565-567)atC>atG	p.I189M	TTC39A_ENST00000413473.2_Missense_Mutation_p.I157M|TTC39A_ENST00000371750.5_Missense_Mutation_p.I154M|TTC39A_ENST00000262676.5_Missense_Mutation_p.I185M|TTC39A_ENST00000451380.1_Missense_Mutation_p.I153M|TTC39A_ENST00000262675.7_Missense_Mutation_p.I126M|TTC39A_ENST00000371747.3_Missense_Mutation_p.I188M			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	189								p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TTCGAACTTTGATGCCGCCTT	0.597																																																	2	Whole gene deletion(2)	thyroid(1)|central_nervous_system(1)											146.0	149.0	148.0					1																	51774962		2039	4195	6234	SO:0001583	missense	22996			AB007921	CCDS44143.1, CCDS44144.1, CCDS72789.1, CCDS72790.1	1p32.3	2013-01-11	2008-06-23	2008-06-23	ENSG00000085831	ENSG00000085831		"""Tetratricopeptide (TTC) repeat domain containing"""	18657	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 34"""	C1orf34		9455484, 9461476	Standard	XM_005270643		Approved	KIAA0452, DEME-6	uc010onf.2	Q5SRH9	OTTHUMG00000008193	ENST00000447632.2:c.567C>G	1.37:g.51774962G>C	ENSP00000393952:p.Ile189Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z782|E7EQY9|G3XAF8|O43417|O75040|Q5SRH5|Q5SRH6|Q5SRH7|Q5SRH8|Q5SRI0|Q5SRI1|Q5SRI2|Q5T7S1|Q6PIU8|Q9BT24	Missense_Mutation	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.I189M	ENST00000447632.2	37	c.567		1	.	.	.	.	.	.	.	.	.	.	G	15.79	2.938521	0.52972	.	.	ENSG00000085831	ENST00000447632;ENST00000413473;ENST00000262675;ENST00000451380;ENST00000371750;ENST00000371747;ENST00000262676;ENST00000411642;ENST00000439482;ENST00000422925;ENST00000380849	T;T;T;T;T;T;T;T;T;T;T	0.42900	0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96;0.96	5.06	5.06	0.68205	.	0.049900	0.85682	D	0.000000	T	0.33147	0.0853	N	0.25245	0.725	0.58432	D	0.999991	B;B;B;P;B;B;B	0.36683	0.026;0.078;0.128;0.565;0.149;0.078;0.105	B;B;B;B;B;B;B	0.37267	0.056;0.144;0.124;0.245;0.144;0.201;0.076	T	0.10941	-1.0608	10	0.35671	T	0.21	-20.8803	17.5511	0.87875	0.0:0.0:1.0:0.0	.	157;153;126;185;153;189;154	Q5SRH9-4;E7EQY9;D3DQ30;Q5SRH9-3;B7Z782;Q5SRH9;G3XAF8	.;.;.;.;.;TT39A_HUMAN;.	M	189;157;126;153;154;188;185;126;153;126;161	ENSP00000393952:I189M;ENSP00000406144:I157M;ENSP00000262675:I126M;ENSP00000397207:I153M;ENSP00000360815:I154M;ENSP00000360812:I188M;ENSP00000262676:I185M;ENSP00000408532:I126M;ENSP00000405803:I153M;ENSP00000388995:I126M;ENSP00000370230:I161M	ENSP00000262675:I126M	I	-	3	3	TTC39A	51547550	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.929000	0.70096	2.523000	0.85059	0.436000	0.28706	ATC	TTC39A	-	pfam_OMP_IML2_mit/TPR_39		0.597	TTC39A-004	KNOWN	basic	protein_coding	TTC39A	HGNC	protein_coding	OTTHUMT00000022434.2	G			51774962	-1	no_errors	ENST00000447632	ensembl	human	known	70_37	missense	SNP	1.000	C
CFAP46	54777	genome.wustl.edu	37	10	134743130	134743130	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:134743130C>A	ENST00000368585.3	-	9	1383	c.1045G>T	c.(1045-1047)Gag>Tag	p.E349*	TTC40_ENST00000368582.2_Intron|TTC40_ENST00000368586.5_Intron																breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						GTGAACTGCTCTTCCTTTCTT	0.537																																																	0													139.0	123.0	128.0					10																	134743130		2203	4300	6503	SO:0001587	stop_gained	54777																														ENST00000368585.3:c.1045G>T	10.37:g.134743130C>A	ENSP00000357574:p.Glu349*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E349*	ENST00000368585.3	37	c.1045		10	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716948	0.68844	.	.	ENSG00000171811	ENST00000368585	.	.	.	2.1	-4.2	0.03823	.	7.065580	0.00725	U	0.000913	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.06891	T	0.86	.	10.5589	0.45133	0.0:0.7829:0.0:0.2171	.	.	.	.	X	349	.	ENSP00000357574:E349X	E	-	1	0	C10orf93	134593120	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.228000	0.02948	-1.244000	0.02516	-1.149000	0.01842	GAG	TTC40	-	NULL		0.537	TTC40-008	KNOWN	basic|appris_candidate	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051099.1	C			134743130	-1	no_errors	ENST00000368585	ensembl	human	known	70_37	nonsense	SNP	0.000	A
TTF2	8458	genome.wustl.edu	37	1	117634490	117634490	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:117634490C>G	ENST00000369466.4	+	17	2767	c.2723C>G	c.(2722-2724)tCa>tGa	p.S908*	MIR942_ENST00000401111.1_RNA	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	908					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		GCAGCAGACTCACCGAGATCC	0.522																																																	0													96.0	89.0	92.0					1																	117634490		2203	4300	6503	SO:0001587	stop_gained	8458			AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.2723C>G	1.37:g.117634490C>G	ENSP00000358478:p.Ser908*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Nonsense_Mutation	SNP	pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.S908*	ENST00000369466.4	37	c.2723	CCDS892.1	1	.	.	.	.	.	.	.	.	.	.	C	38	6.872275	0.97901	.	.	ENSG00000116830	ENST00000369466	.	.	.	5.66	1.75	0.24633	.	1.246970	0.06138	N	0.671936	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08381	T	0.77	1.8003	5.6199	0.17451	0.1387:0.6347:0.0:0.2267	.	.	.	.	X	908	.	ENSP00000358478:S908X	S	+	2	0	TTF2	117436013	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.103000	0.15292	0.083000	0.17047	-0.140000	0.14226	TCA	TTF2	-	pfam_SNF2_N		0.522	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTF2	HGNC	protein_coding	OTTHUMT00000033277.3	C			117634490	+1	no_errors	ENST00000369466	ensembl	human	known	70_37	nonsense	SNP	0.009	G
TTI1	9675	genome.wustl.edu	37	20	36634660	36634660	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:36634660C>T	ENST00000373448.2	-	4	2680	c.2442G>A	c.(2440-2442)ctG>ctA	p.L814L	TTI1_ENST00000449821.1_Silent_p.L814L|TTI1_ENST00000373447.3_Silent_p.L814L	NM_014657.1	NP_055472.1	O43156	TTI1_HUMAN	TELO2 interacting protein 1	814					regulation of TOR signaling (GO:0032006)	cytoplasm (GO:0005737)|TORC1 complex (GO:0031931)|TORC2 complex (GO:0031932)				breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	47						TGAGGTAGTTCAGCAAAAACT	0.408																																																	0													270.0	247.0	255.0					20																	36634660		2203	4300	6503	SO:0001819	synonymous_variant	9675			BC013121	CCDS13300.1	20q11.23	2011-11-10	2011-11-10	2010-06-22	ENSG00000101407	ENSG00000101407			29029	protein-coding gene	gene with protein product	"""smg-10 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	614425	"""KIAA0406"", ""Tel2 interacting protein 1 homolog (S. pombe)"""	KIAA0406		9455477, 20427287, 20371770	Standard	NM_014657		Approved	smg-10	uc002xhl.3	O43156	OTTHUMG00000032433	ENST00000373448.2:c.2442G>A	20.37:g.36634660C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W4K3|Q5JX67|Q96A38|Q9BR47|Q9H4K0	Silent	SNP	superfamily_ARM-type_fold,pirsf_UCP005250	p.L814	ENST00000373448.2	37	c.2442	CCDS13300.1	20																																																																																			TTI1	-	superfamily_ARM-type_fold,pirsf_UCP005250		0.408	TTI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTI1	HGNC	protein_coding	OTTHUMT00000079138.2	C	NM_014657		36634660	-1	no_errors	ENST00000373447	ensembl	human	known	70_37	silent	SNP	1.000	T
TTLL12	23170	genome.wustl.edu	37	22	43575746	43575746	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:43575746C>T	ENST00000216129.6	-	5	782	c.719G>A	c.(718-720)cGa>cAa	p.R240Q		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	240					cellular protein modification process (GO:0006464)					central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				GGCAAAGTCTCGGGTCACCTC	0.652																																																	0													75.0	70.0	71.0					22																	43575746		2203	4300	6503	SO:0001583	missense	23170			D63487	CCDS14047.1	22q13.31	2013-02-14	2006-02-02		ENSG00000100304	ENSG00000100304		"""Tubulin tyrosine ligase-like family"""	28974	protein-coding gene	gene with protein product						15890843	Standard	NM_015140		Approved	KIAA0153	uc003bdp.3	Q14166	OTTHUMG00000150682	ENST00000216129.6:c.719G>A	22.37:g.43575746C>T	ENSP00000216129:p.Arg240Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q20WK5|Q9UGU3	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R240Q	ENST00000216129.6	37	c.719	CCDS14047.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.540005	0.96474	.	.	ENSG00000100304	ENST00000216129;ENST00000423379	T	0.55413	0.52	5.55	5.55	0.83447	.	0.000000	0.85682	D	0.000000	T	0.76962	0.4061	M	0.88775	2.98	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.63703	0.917;0.917	T	0.81324	-0.0984	10	0.72032	D	0.01	-38.4613	19.5034	0.95105	0.0:1.0:0.0:0.0	.	240;240	B1AH89;Q14166	.;TTL12_HUMAN	Q	240	ENSP00000216129:R240Q	ENSP00000216129:R240Q	R	-	2	0	TTLL12	41905690	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.156000	0.77453	2.593000	0.87608	0.655000	0.94253	CGA	TTLL12	-	NULL		0.652	TTLL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL12	HGNC	protein_coding	OTTHUMT00000319611.1	C	NM_015140		43575746	-1	no_errors	ENST00000216129	ensembl	human	known	70_37	missense	SNP	1.000	T
TTLL13	440307	genome.wustl.edu	37	15	90799019	90799019	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:90799019C>G	ENST00000339615.5	+	5	740	c.450C>G	c.(448-450)atC>atG	p.I150M	RP11-697E2.6_ENST00000561573.1_Intron|TTLL13_ENST00000438251.1_Missense_Mutation_p.I150M	NM_001029964.2	NP_001025135.2			tubulin tyrosine ligase-like family, member 13											NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			TGACAGAAATCTGCCGCAAAG	0.537																																																	0													198.0	193.0	194.0					15																	90799019		2199	4298	6497	SO:0001583	missense	440307			BC036668		15q26.1	2013-02-14				ENSG00000213471		"""Tubulin tyrosine ligase-like family"""	32484	protein-coding gene	gene with protein product						15890843	Standard	NR_104604		Approved	FLJ46079, MGC33417	uc002bpd.1	A6NNM8		ENST00000339615.5:c.450C>G	15.37:g.90799019C>G	ENSP00000345294:p.Ile150Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.I150M	ENST00000339615.5	37	c.450	CCDS32328.1	15	.	.	.	.	.	.	.	.	.	.	C	16.94	3.259465	0.59321	.	.	ENSG00000213471	ENST00000438251;ENST00000339615	T;T	0.07908	3.15;3.15	5.3	4.39	0.52855	.	0.066892	0.64402	D	0.000011	T	0.24005	0.0581	M	0.83953	2.67	0.38431	D	0.946441	D	0.61697	0.99	D	0.64237	0.923	T	0.03945	-1.0990	10	0.54805	T	0.06	.	5.4369	0.16486	0.1449:0.6368:0.1404:0.0778	.	150	A6NNM8-2	.	M	150	ENSP00000413362:I150M;ENSP00000345294:I150M	ENSP00000345294:I150M	I	+	3	3	TTLL13	88600023	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.283000	0.33237	1.467000	0.48044	0.655000	0.94253	ATC	TTLL13	-	pfam_Tub_tyr_ligase		0.537	TTLL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL13	HGNC	protein_coding	OTTHUMT00000435854.1	C	NM_001029964		90799019	+1	no_errors	ENST00000438251	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179416576	179416576	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179416576C>G	ENST00000591111.1	-	285	86352	c.86128G>C	c.(86128-86130)Gat>Cat	p.D28710H	RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D27783H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D21411H|TTN_ENST00000460472.2_Missense_Mutation_p.D21286H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D21478H|TTN_ENST00000589042.1_Missense_Mutation_p.D30351H|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	28710	Fibronectin type-III 109. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAACCACCATCATAAACTGGA	0.413																																																	0													160.0	162.0	161.0					2																	179416576		1924	4127	6051	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.86128G>C	2.37:g.179416576C>G	ENSP00000465570:p.Asp28710His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.D27783H	ENST00000591111.1	37	c.83347		2	.	.	.	.	.	.	.	.	.	.	C	15.31	2.795402	0.50208	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58940	0.3;0.3;0.3;0.3	5.76	4.89	0.63831	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.77738	0.4175	M	0.88906	2.99	0.80722	D	1	D;D;D;D	0.59357	0.985;0.985;0.985;0.985	P;P;P;P	0.61940	0.836;0.836;0.836;0.896	T	0.82876	-0.0240	9	0.87932	D	0	.	14.7361	0.69416	0.0:0.9307:0.0:0.0693	.	21286;21411;21478;28710	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	27783;21286;21478;21411;21283	ENSP00000343764:D27783H;ENSP00000434586:D21286H;ENSP00000340554:D21478H;ENSP00000352154:D21411H	ENSP00000340554:D21478H	D	-	1	0	TTN	179124822	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.043000	0.71004	1.443000	0.47586	0.655000	0.94253	GAT	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.413	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179416576	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179424573	179424573	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179424573C>T	ENST00000591111.1	-	276	81587	c.81363G>A	c.(81361-81363)aaG>aaA	p.K27121K	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.K26194K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.K19822K|TTN_ENST00000460472.2_Silent_p.K19697K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.K19889K|TTN_ENST00000589042.1_Silent_p.K28762K|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27121	Ig-like 129.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAATCAAGGTCTTCCTCATTT	0.463																																																	0													154.0	150.0	151.0					2																	179424573		1997	4174	6171	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81363G>A	2.37:g.179424573C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.K26194	ENST00000591111.1	37	c.78582		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179424573	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179424576	179424576	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179424576C>T	ENST00000591111.1	-	276	81584	c.81360G>A	c.(81358-81360)agG>agA	p.R27120R	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Silent_p.R26193R|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.R19821R|TTN_ENST00000460472.2_Silent_p.R19696R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.R19888R|TTN_ENST00000589042.1_Silent_p.R28761R|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27120	Ig-like 129.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAAGGTCTTCCTCATTTCAC	0.458																																																	0													149.0	146.0	147.0					2																	179424576		1991	4172	6163	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81360G>A	2.37:g.179424576C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.R26193	ENST00000591111.1	37	c.78579		2																																																																																			TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.458	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179424576	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179425118	179425118	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179425118C>G	ENST00000591111.1	-	276	81042	c.80818G>C	c.(80818-80820)Gaa>Caa	p.E26940Q	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E26013Q|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E19641Q|TTN_ENST00000460472.2_Missense_Mutation_p.E19516Q|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E19708Q|TTN_ENST00000589042.1_Missense_Mutation_p.E28581Q|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	26940	Fibronectin type-III 96. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGATATTTCACTACCTCCA	0.393																																																	0													85.0	77.0	80.0					2																	179425118		1847	4099	5946	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.80818G>C	2.37:g.179425118C>G	ENSP00000465570:p.Glu26940Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E26013Q	ENST00000591111.1	37	c.78037		2	.	.	.	.	.	.	.	.	.	.	C	12.60	1.988095	0.35036	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58797	0.31;0.31;0.31;0.31	5.88	4.99	0.66335	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63733	0.2536	M	0.65677	2.01	0.34116	D	0.663528	B;B;B;B	0.25048	0.055;0.055;0.055;0.117	B;B;B;B	0.34991	0.147;0.147;0.147;0.193	T	0.72984	-0.4125	9	0.87932	D	0	.	17.2642	0.87081	0.0:0.8746:0.1254:0.0	.	19516;19641;19708;26940	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Q	26013;19516;19708;19641;19513	ENSP00000343764:E26013Q;ENSP00000434586:E19516Q;ENSP00000340554:E19708Q;ENSP00000352154:E19641Q	ENSP00000340554:E19708Q	E	-	1	0	TTN	179133364	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.796000	0.62496	1.463000	0.47967	0.655000	0.94253	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179425118	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	G
TTN	7273	genome.wustl.edu	37	2	179581862	179581862	+	Silent	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179581862G>T	ENST00000591111.1	-	86	24872	c.24648C>A	c.(24646-24648)atC>atA	p.I8216I	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.I7289I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Silent_p.I8533I			Q8WZ42	TITIN_HUMAN	titin	12400	Ig-like 64.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTTCCAGCGATGTTGCTTG	0.433																																																	0													62.0	61.0	61.0					2																	179581862		1930	4133	6063	SO:0001819	synonymous_variant	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24648C>A	2.37:g.179581862G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.I7289	ENST00000591111.1	37	c.21867		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.433	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179581862	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.020	T
TTN	7273	genome.wustl.edu	37	2	179597987	179597987	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179597987C>T	ENST00000591111.1	-	52	15306	c.15082G>A	c.(15082-15084)Gag>Aag	p.E5028K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E4101K|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E5345K			Q8WZ42	TITIN_HUMAN	titin	12401	Ig-like 30.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGTAGTCTCACAGGAGCTG	0.393																																																	0													100.0	97.0	98.0					2																	179597987		1890	4122	6012	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.15082G>A	2.37:g.179597987C>T	ENSP00000465570:p.Glu5028Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.E4101K	ENST00000591111.1	37	c.12301		2	.	.	.	.	.	.	.	.	.	.	C	12.93	2.084606	0.36758	.	.	ENSG00000155657	ENST00000342992	T	0.65732	-0.17	6.06	6.06	0.98353	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.36853	0.0982	N	0.02697	-0.525	0.80722	D	1	B	0.09022	0.002	B	0.15052	0.012	T	0.32188	-0.9916	9	0.87932	D	0	.	7.977	0.30161	0.0:0.8159:0.0:0.1841	.	5028	Q8WZ42	TITIN_HUMAN	K	4101	ENSP00000343764:E4101K	ENSP00000343764:E4101K	E	-	1	0	TTN	179306232	0.998000	0.40836	0.998000	0.56505	0.910000	0.53928	2.884000	0.48562	2.871000	0.98454	0.655000	0.94253	GAG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,pfscan_Ig-like		0.393	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179597987	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.991	T
TTN	7273	genome.wustl.edu	37	2	179598510	179598510	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179598510C>T	ENST00000591111.1	-	51	14879	c.14655G>A	c.(14653-14655)atG>atA	p.M4885I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.M3958I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.M5202I			Q8WZ42	TITIN_HUMAN	titin	12266	Ig-like 29.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGACCTTTCATCCATGTGA	0.428																																																	0													176.0	168.0	170.0					2																	179598510		1927	4153	6080	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.14655G>A	2.37:g.179598510C>T	ENSP00000465570:p.Met4885Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.M3958I	ENST00000591111.1	37	c.11874		2	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879917	0.33162	.	.	ENSG00000155657	ENST00000342992	T	0.39997	1.05	5.79	4.92	0.64577	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.35770	0.0943	L	0.31476	0.935	0.80722	D	1	B	0.20164	0.042	B	0.24701	0.055	T	0.18429	-1.0337	9	0.87932	D	0	.	15.0207	0.71630	0.0:0.9318:0.0:0.0682	.	4885	Q8WZ42	TITIN_HUMAN	I	3958	ENSP00000343764:M3958I	ENSP00000343764:M3958I	M	-	3	0	TTN	179306755	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	2.466000	0.45084	1.451000	0.47736	-0.150000	0.13652	ATG	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	C	NM_133378		179598510	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	T
TTN	7273	genome.wustl.edu	37	2	179606109	179606109	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:179606109G>A	ENST00000591111.1	-	46	11124	c.10900C>T	c.(10900-10902)Caa>Taa	p.Q3634*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q3713*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q3588*|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q3780*|TTN_ENST00000589042.1_Nonsense_Mutation_p.Q3951*			Q8WZ42	TITIN_HUMAN	titin	13940	Ig-like 22.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAAGCCCTTGAGCACAGCGA	0.463																																																	0													145.0	140.0	142.0					2																	179606109		1922	4142	6064	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10900C>T	2.37:g.179606109G>A	ENSP00000465570:p.Gln3634*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.Q3780*	ENST00000591111.1	37	c.11338		2	.	.	.	.	.	.	.	.	.	.	G	51	18.543798	0.99907	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.87	4.98	0.66077	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	16.2467	0.82448	0.0:0.2503:0.7497:0.0	.	.	.	.	X	3588;3780;3713;3588	.	ENSP00000340554:Q3780X	Q	-	1	0	TTN	179314354	0.595000	0.26857	0.007000	0.13788	0.296000	0.27459	3.587000	0.53957	1.587000	0.49959	0.655000	0.94253	CAA	TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.463	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179606109	-1	no_errors	ENST00000342175	ensembl	human	known	70_37	nonsense	SNP	0.123	A
TUBA3C	7278	genome.wustl.edu	37	13	19753560	19753560	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr13:19753560G>C	ENST00000400113.3	-	2	251	c.147C>G	c.(145-147)ttC>ttG	p.F49L	RP11-408E5.4_ENST00000382988.2_5'Flank	NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	49					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AGAACGTGTTGAAGGAGTCGT	0.562																																																	0													209.0	170.0	183.0					13																	19753560		2203	4300	6503	SO:0001583	missense	7278			AF005392	CCDS9284.1	13q12.11	2007-06-20	2007-02-12	2007-02-12	ENSG00000198033	ENSG00000198033		"""Tubulins"""	12408	protein-coding gene	gene with protein product		602528	"""tubulin, alpha 2"""	TUBA2		9465305	Standard	NM_006001		Approved	bA408E5.3	uc009zzj.3	Q13748	OTTHUMG00000016481	ENST00000400113.3:c.147C>G	13.37:g.19753560G>C	ENSP00000382982:p.Phe49Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJQ0|Q5W099|Q6PEY3|Q96F18	Missense_Mutation	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Alpha_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin	p.F49L	ENST00000400113.3	37	c.147	CCDS9284.1	13	.	.	.	.	.	.	.	.	.	.	g	6.857	0.527413	0.13066	.	.	ENSG00000198033	ENST00000400113;ENST00000360801	T	0.66815	-0.23	1.37	1.37	0.22104	.	0.000000	0.49916	U	0.000129	T	0.65964	0.2742	.	.	.	0.38823	D	0.955682	.	.	.	.	.	.	T	0.67284	-0.5709	7	0.87932	D	0	.	3.7313	0.08493	0.2397:0.0:0.7603:0.0	.	.	.	.	L	49	ENSP00000382982:F49L	ENSP00000354037:F49L	F	-	3	2	TUBA3C	18651560	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	2.678000	0.46900	1.070000	0.40811	0.194000	0.17425	TTC	TUBA3C	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Alpha_tubulin		0.562	TUBA3C-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	TUBA3C	HGNC	protein_coding	OTTHUMT00000044007.2	G	NM_006001		19753560	-1	no_errors	ENST00000400113	ensembl	human	known	70_37	missense	SNP	1.000	C
P2RX6	9127	genome.wustl.edu	37	22	21368163	21368163	+	5'Flank	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:21368163C>G	ENST00000413302.2	+	0	0				P2RX6_ENST00000402329.3_5'Flank|P2RX6_ENST00000336296.2_5'Flank|P2RX6_ENST00000591411.1_Intron|TUBA3FP_ENST00000422086.1_RNA|P2RX6_ENST00000401443.1_5'Flank|P2RX6_ENST00000443995.3_5'Flank			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6						cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|muscle contraction (GO:0006936)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|purinergic nucleotide receptor signaling pathway (GO:0035590)|signal transduction (GO:0007165)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|integral component of nuclear inner membrane (GO:0005639)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|channel activity (GO:0015267)|extracellular ATP-gated cation channel activity (GO:0004931)|identical protein binding (GO:0042802)|purinergic nucleotide receptor activity (GO:0001614)|transmembrane signaling receptor activity (GO:0004888)										TAACCTCCTTCTAGAAGCGCC	0.577																																																	0																																										SO:0001631	upstream_gene_variant	113691				CCDS13788.2, CCDS54504.1	22q11.21	2012-01-17	2008-03-28	2008-03-28	ENSG00000099957	ENSG00000099957		"""Purinergic receptors"", ""Ligand-gated ion channels / Purinergic receptors, ionotropic"""	8538	protein-coding gene	gene with protein product		608077	"""purinergic receptor P2X-like 1, orphan receptor"""	P2RXL1		9242461, 10591208, 8786426	Standard	NM_005446		Approved	P2XM, MGC129625, P2X6	uc010gsu.1	O15547	OTTHUMG00000150689		22.37:g.21368163C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	F6V3D7|Q32MB6|Q58F04|Q6IC33|Q9UL50	RNA	SNP	-	NULL	ENST00000413302.2	37	NULL	CCDS13788.2	22																																																																																			TUBA3FP	-	-		0.577	P2RX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBA3FP	HGNC	protein_coding	OTTHUMT00000319625.2	C	NM_005446		21368163	-1	no_errors	ENST00000292748	ensembl	human	known	70_37	rna	SNP	0.000	G
TUBB2A	7280	genome.wustl.edu	37	6	3154970	3154970	+	Silent	SNP	G	G	A	rs201238213		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:3154970G>A	ENST00000333628.3	-	4	527	c.465C>T	c.(463-465)atC>atT	p.I155I	TUBB2A_ENST00000489942.1_5'UTR|RP1-40E16.11_ENST00000447644.1_RNA	NM_001069.2	NP_001060.1	Q13885	TBB2A_HUMAN	tubulin, beta 2A class IIa	155					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)|vesicle (GO:0031982)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|large_intestine(4)|lung(2)|skin(1)	9	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACTCTTCCCGGATCTTGCTGA	0.622																																																	0													28.0	20.0	23.0					6																	3154970		2202	4273	6475	SO:0001819	synonymous_variant	7280			AY159127	CCDS4484.1	6p25.2	2012-10-02	2011-10-10	2005-11-03	ENSG00000137267	ENSG00000137267		"""Tubulins"""	12412	protein-coding gene	gene with protein product	"""class IIa beta-tubulin"""	615101	"""tubulin, beta polypeptide"", ""tubulin, beta 2"", ""tubulin, beta 2A"""	TUBB, TUBB2		14574404	Standard	NM_001069		Approved	dJ40E16.7	uc003mvc.3	Q13885	OTTHUMG00000014135	ENST00000333628.3:c.465C>T	6.37:g.3154970G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FGZ8|Q8IWR2	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin,prints_Alpha_tubulin	p.I155	ENST00000333628.3	37	c.465	CCDS4484.1	6																																																																																			TUBB2A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin		0.622	TUBB2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB2A	HGNC	protein_coding	OTTHUMT00000039662.1	G	NM_001069		3154970	-1	no_errors	ENST00000333628	ensembl	human	known	70_37	silent	SNP	1.000	A
TUBB4A	10382	genome.wustl.edu	37	19	6495889	6495889	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:6495889G>C	ENST00000264071.2	-	4	992	c.621C>G	c.(619-621)ctC>ctG	p.L207L	CTD-2396E7.9_ENST00000599292.1_RNA|TUBB4A_ENST00000540257.1_Silent_p.L207L|CTD-2396E7.10_ENST00000596027.1_RNA			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	207					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										AGATGTCGTAGAGTGCCTCGT	0.607																																																	0													250.0	173.0	199.0					19																	6495889		2203	4300	6503	SO:0001819	synonymous_variant	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.621C>G	19.37:g.6495889G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQP4|Q969E5	Silent	SNP	pfam_Tubulin_FtsZ_GTPase,pfam_Tubulin/FtsZ_2-layer-sand-dom,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,superfamily_Tub_FtsZ_C,smart_Tubulin_FtsZ_GTPase,smart_Tubulin/FtsZ_2-layer-sand-dom,prints_Beta_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.L207	ENST00000264071.2	37	c.621	CCDS12168.1	19																																																																																			TUBB4A	-	pfam_Tubulin_FtsZ_GTPase,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin,prints_Delta_tubulin		0.607	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	HGNC	protein_coding	OTTHUMT00000457841.1	G	NM_006087		6495889	-1	no_errors	ENST00000264071	ensembl	human	known	70_37	silent	SNP	0.971	C
TUBGCP6	85378	genome.wustl.edu	37	22	50656698	50656698	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:50656698G>C	ENST00000248846.5	-	23	5192	c.5088C>G	c.(5086-5088)ttC>ttG	p.F1696L	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1696					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|gamma-tubulin ring complex (GO:0008274)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		ACCTGGCCCTGAACTCGCACC	0.622																																																	0													47.0	41.0	43.0					22																	50656698		2203	4300	6503	SO:0001583	missense	85378			AB051456	CCDS14087.1	22q13.31-q13.33	2008-07-01			ENSG00000128159	ENSG00000128159			18127	protein-coding gene	gene with protein product	"""gamma-tubulin complex component 6"""	610053				11694571, 11258795	Standard	XR_244458		Approved	GCP6, KIAA1669, DJ402G11.6	uc003bkb.1	Q96RT7	OTTHUMG00000030150	ENST00000248846.5:c.5088C>G	22.37:g.50656698G>C	ENSP00000248846:p.Phe1696Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JZ80|Q6PJ40|Q86YE9|Q9BY91|Q9UGX3|Q9UGX4	Missense_Mutation	SNP	pfam_Spc97_Spc98	p.F1696L	ENST00000248846.5	37	c.5088	CCDS14087.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.09|16.09	3.025792|3.025792	0.54683|0.54683	.|.	.|.	ENSG00000128159|ENSG00000128159	ENST00000248846|ENST00000425018	T|T	0.05580|0.21932	3.42|1.98	4.92|4.92	3.89|3.89	0.44902|0.44902	.|.	0.199796|.	0.53938|.	D|.	0.000046|.	T|T	0.28896|0.28896	0.0717|0.0717	M|M	0.64404|0.64404	1.975|1.975	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;0.997|.	D;D|.	0.87578|.	0.998;0.981|.	T|T	0.01666|0.01666	-1.1300|-1.1300	10|7	0.32370|0.20046	T|T	0.25|0.44	.|.	9.7182|9.7182	0.40286|0.40286	0.19:0.0:0.81:0.0|0.19:0.0:0.81:0.0	.|.	1688;1696|.	B2RWN4;Q96RT7|.	.;GCP6_HUMAN|.	L|E	1696|372	ENSP00000248846:F1696L|ENSP00000405979:Q372E	ENSP00000248846:F1696L|ENSP00000405979:Q372E	F|Q	-|-	3|1	2|0	TUBGCP6|TUBGCP6	48998825|48998825	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.976000|0.976000	0.68499|0.68499	4.969000|4.969000	0.63735|0.63735	2.269000|2.269000	0.75478|0.75478	0.467000|0.467000	0.42956|0.42956	TTC|CAG	TUBGCP6	-	pfam_Spc97_Spc98		0.622	TUBGCP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBGCP6	HGNC	protein_coding	OTTHUMT00000075004.3	G	NM_020461		50656698	-1	no_errors	ENST00000248846	ensembl	human	known	70_37	missense	SNP	1.000	C
TXLNA	200081	genome.wustl.edu	37	1	32646028	32646028	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:32646028G>A	ENST00000373609.1	+	1	363	c.82G>A	c.(82-84)Gag>Aag	p.E28K	TXLNA_ENST00000373610.3_Missense_Mutation_p.E28K			P40222	TXLNA_HUMAN	taxilin alpha	28					B cell activation (GO:0042113)|cell proliferation (GO:0008283)|exocytosis (GO:0006887)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	cytokine activity (GO:0005125)|high molecular weight B cell growth factor receptor binding (GO:0030372)			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGGACCCGAGGGAGCCCA	0.612																																																	0													25.0	28.0	27.0					1																	32646028		2203	4300	6503	SO:0001583	missense	200081			AF516206	CCDS353.1	1p35	2012-02-21			ENSG00000084652	ENSG00000084652			30685	protein-coding gene	gene with protein product		608676				15184072, 14623251	Standard	NM_175852		Approved	DKFZp451J0118	uc001bui.3	P40222	OTTHUMG00000004423	ENST00000373609.1:c.82G>A	1.37:g.32646028G>A	ENSP00000362711:p.Glu28Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPP6|Q5TFJ6|Q66K62|Q86T54|Q86T85|Q86T86|Q86Y86|Q86YW3|Q8N2Y3	Missense_Mutation	SNP	pfam_Taxilin_fam	p.E28K	ENST00000373609.1	37	c.82	CCDS353.1	1	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698073	0.68386	.	.	ENSG00000084652	ENST00000373610;ENST00000373609	T;T	0.34072	1.38;1.38	4.97	4.97	0.65823	.	0.412920	0.23055	N	0.052457	T	0.30103	0.0754	L	0.44542	1.39	0.33693	D	0.613609	B	0.27700	0.186	B	0.16289	0.015	T	0.36648	-0.9739	10	0.38643	T	0.18	-13.1984	13.9836	0.64319	0.0:0.0:1.0:0.0	.	28	P40222	TXLNA_HUMAN	K	28	ENSP00000362712:E28K;ENSP00000362711:E28K	ENSP00000362711:E28K	E	+	1	0	TXLNA	32418615	0.998000	0.40836	0.909000	0.35828	0.838000	0.47535	4.729000	0.62008	2.766000	0.95052	0.644000	0.83932	GAG	TXLNA	-	NULL		0.612	TXLNA-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TXLNA	HGNC	protein_coding	OTTHUMT00000012844.1	G	NM_175852		32646028	+1	no_errors	ENST00000373609	ensembl	human	known	70_37	missense	SNP	0.956	A
TUFT1	7286	genome.wustl.edu	37	1	151536388	151536388	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:151536388G>C	ENST00000368849.3	+	4	308	c.246G>C	c.(244-246)ttG>ttC	p.L82F	TUFT1_ENST00000353024.3_Missense_Mutation_p.L23F|TUFT1_ENST00000392712.3_Missense_Mutation_p.L57F|TUFT1_ENST00000368848.2_Missense_Mutation_p.L57F|RP11-74C1.4_ENST00000434112.1_RNA|TUFT1_ENST00000538902.1_Missense_Mutation_p.L101F	NM_020127.2	NP_064512.1	Q9NNX1	TUFT1_HUMAN	tuftelin 1	82					bone mineralization (GO:0030282)|odontogenesis (GO:0042476)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	structural constituent of tooth enamel (GO:0030345)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGGTGTACTTGAAGGGGAGGT	0.423																																																	0													134.0	123.0	126.0					1																	151536388		2203	4300	6503	SO:0001583	missense	7286			AF254260	CCDS1000.1, CCDS44223.1	1q21	2008-02-05			ENSG00000143367	ENSG00000143367			12422	protein-coding gene	gene with protein product		600087				7919663	Standard	NM_020127		Approved		uc001eyl.3	Q9NNX1	OTTHUMG00000012536	ENST00000368849.3:c.246G>C	1.37:g.151536388G>C	ENSP00000357842:p.Leu82Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD57|D3DV21|D3DV22|Q5T384|Q5T385|Q9BU28|Q9H5L1	Missense_Mutation	SNP	superfamily_Prefoldin	p.L101F	ENST00000368849.3	37	c.303	CCDS1000.1	1	.	.	.	.	.	.	.	.	.	.	G	18.41	3.618947	0.66787	.	.	ENSG00000143367	ENST00000368849;ENST00000392712;ENST00000353024;ENST00000368848;ENST00000544350;ENST00000538902;ENST00000507671	T;T;T;T;T	0.43688	1.36;0.94;1.38;1.48;1.3	5.25	4.28	0.50868	.	0.000000	0.64402	D	0.000004	T	0.54143	0.1840	M	0.73598	2.24	0.47214	D	0.999355	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.994	T	0.57871	-0.7736	10	0.66056	D	0.02	-7.5676	10.9988	0.47593	0.0:0.1884:0.8116:0.0	.	101;57;82	F5H607;Q9NNX1-2;Q9NNX1	.;.;TUFT1_HUMAN	F	82;57;23;57;57;101;57	ENSP00000357842:L82F;ENSP00000376476:L57F;ENSP00000343781:L23F;ENSP00000357841:L57F;ENSP00000437997:L101F	ENSP00000343781:L23F	L	+	3	2	TUFT1	149803012	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	0.854000	0.27791	2.457000	0.83068	0.563000	0.77884	TTG	TUFT1	-	NULL		0.423	TUFT1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	TUFT1	HGNC	protein_coding	OTTHUMT00000035022.1	G	NM_020127		151536388	+1	no_errors	ENST00000538902	ensembl	human	known	70_37	missense	SNP	1.000	C
TXNDC2	84203	genome.wustl.edu	37	18	9886887	9886887	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:9886887C>T	ENST00000306084.6	+	2	610	c.411C>T	c.(409-411)tcC>tcT	p.S137S	TXNDC2_ENST00000357775.5_Silent_p.S70S|TXNDC2_ENST00000426718.3_3'UTR|TXNDC2_ENST00000536353.2_Silent_p.S70S	NM_001098529.1	NP_001091999.1	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)	137	22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|oxidation-reduction process (GO:0055114)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleus (GO:0005634)|outer dense fiber (GO:0001520)	nutrient reservoir activity (GO:0045735)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)|thioredoxin-disulfide reductase activity (GO:0004791)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TCCCCAAGTCCTCAGAAAAAG	0.547																																																	0													132.0	127.0	129.0					18																	9886887		2203	4300	6503	SO:0001819	synonymous_variant	84203			AF080095	CCDS11846.1, CCDS42414.1	18p11.31-p11.2	2009-03-11	2009-03-11	2007-08-16	ENSG00000168454	ENSG00000168454			16470	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 1"""					11230166, 11399755	Standard	NM_001098529		Approved	SPTRX1	uc002koi.4	Q86VQ3	OTTHUMG00000131602	ENST00000306084.6:c.411C>T	18.37:g.9886887C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5YM73|Q8N7U4|Q96RX3|Q9H0L8	Silent	SNP	pfam_Thioredoxin_domain,pfam_Glutenin,superfamily_Thioredoxin-like_fold	p.S137	ENST00000306084.6	37	c.411	CCDS42414.1	18																																																																																			TXNDC2	-	pfam_Glutenin		0.547	TXNDC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TXNDC2	HGNC	protein_coding	OTTHUMT00000254487.1	C			9886887	+1	no_errors	ENST00000306084	ensembl	human	known	70_37	silent	SNP	0.001	T
U2AF1L4	199746	genome.wustl.edu	37	19	36235398	36235398	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:36235398G>T	ENST00000412391.2	-	4	256	c.243C>A	c.(241-243)ttC>ttA	p.F81L	AC002398.9_ENST00000591613.2_5'Flank|IGFLR1_ENST00000588992.1_5'Flank|PSENEN_ENST00000587708.2_5'Flank|PSENEN_ENST00000591949.1_5'Flank|U2AF1L4_ENST00000292879.5_Intron|IGFLR1_ENST00000344990.3_5'Flank|U2AF1L4_ENST00000378975.3_Intron|AD000671.6_ENST00000589807.1_Intron|PSENEN_ENST00000222266.2_5'Flank|AC002398.11_ENST00000591091.1_RNA|AC002398.11_ENST00000585365.1_RNA|IGFLR1_ENST00000246532.1_5'Flank|IGFLR1_ENST00000592537.1_5'Flank|U2AF1L4_ENST00000588100.1_5'Flank			Q8WU68	U2AF4_HUMAN	U2 small nuclear RNA auxiliary factor 1-like 4	81	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	all_lung(56;3.33e-07)|Lung NSC(56;5.02e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACCTCGAAGAAGCTATCAT	0.587																																																	0																																										SO:0001583	missense	199746			BC021186, AY569437	CCDS12473.1, CCDS42551.1	19q13.13	2013-02-12	2006-04-12	2006-04-12		ENSG00000161265		"""RNA binding motif (RRM) containing"""	23020	protein-coding gene	gene with protein product		601080	"""U2(RNU2) small nuclear RNA auxiliary factor 1-like 3"", ""U2 small nuclear RNA auxiliary factor 1-like 3"""	U2AF1L3		8586425, 11739736	Standard	NM_001040425		Approved	MGC33901, U2af26	uc002obf.3	Q8WU68		ENST00000412391.2:c.243C>A	19.37:g.36235398G>T	ENSP00000397645:p.Phe81Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKI8|Q56UU3	Missense_Mutation	SNP	pfam_Znf_CCCH,pfam_RRM_dom,smart_Znf_CCCH,smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small	p.F81L	ENST00000412391.2	37	c.243		19	.	.	.	.	.	.	.	.	.	.	G	14.76	2.630290	0.46944	.	.	ENSG00000161265	ENST00000412391	.	.	.	4.66	2.46	0.29980	.	.	.	.	.	T	0.69387	0.3105	.	.	.	0.45477	D	0.998444	.	.	.	.	.	.	T	0.70114	-0.4961	5	0.62326	D	0.03	.	11.3181	0.49405	0.0:0.0:0.6697:0.3303	.	.	.	.	L	81	.	ENSP00000397645:F81L	F	-	3	2	U2AF1L4	40927238	1.000000	0.71417	1.000000	0.80357	0.094000	0.18550	3.785000	0.55424	0.543000	0.28864	-0.314000	0.08810	TTC	U2AF1L4	-	smart_RRM_dom_euk,pfscan_RRM_dom,prints_U2_small		0.587	U2AF1L4-201	KNOWN	basic|appris_principal	protein_coding	U2AF1L4	HGNC	protein_coding		G	NM_144987		36235398	-1	no_errors	ENST00000412391	ensembl	human	known	70_37	missense	SNP	1.000	T
UBAP2	55833	genome.wustl.edu	37	9	33996307	33996307	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:33996307G>C	ENST00000379238.1	-	4	319	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	UBAP2_ENST00000360802.1_Missense_Mutation_p.Q68E|UBAP2_ENST00000379239.4_De_novo_Start_InFrame|UBAP2_ENST00000539807.1_Intron|UBAP2_ENST00000418786.2_Missense_Mutation_p.Q68E|UBAP2_ENST00000480885.1_5'UTR|UBAP2_ENST00000449054.1_Missense_Mutation_p.Q68E					ubiquitin associated protein 2											endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		CATTCATCCTGATTTTTCCCT	0.343																																																	0													190.0	177.0	181.0					9																	33996307		2203	4300	6503	SO:0001583	missense	55833			AB040924	CCDS6547.1, CCDS75828.1	9p11.2	2008-02-05			ENSG00000137073	ENSG00000137073			14185	protein-coding gene	gene with protein product						8871400	Standard	NM_018449		Approved	KIAA1491, bA176F3.5, FLJ22435	uc003ztq.1	Q5T6F2	OTTHUMG00000000427	ENST00000379238.1:c.202C>G	9.37:g.33996307G>C	ENSP00000368540:p.Gln68Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF3697_Uba2,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk	p.Q68E	ENST00000379238.1	37	c.202	CCDS6547.1	9	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068154	0.76301	.	.	ENSG00000137073	ENST00000379238;ENST00000449054;ENST00000360802;ENST00000431417;ENST00000379260;ENST00000351580;ENST00000418786;ENST00000412543	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	5.86	5.86	0.93980	Ubiquitin-associated/translation elongation factor EF1B, N-terminal, eukaryote (1);Ubiquitin-associated/translation elongation factor EF1B, N-terminal (1);UBA-like (1);	0.049620	0.85682	D	0.000000	T	0.32102	0.0818	L	0.28014	0.82	0.80722	D	1	B;D;D	0.76494	0.229;0.986;0.999	B;P;D	0.83275	0.12;0.718;0.996	T	0.01675	-1.1298	10	0.05833	T	0.94	-3.2387	20.1951	0.98241	0.0:0.0:1.0:0.0	.	68;30;68	E7EWG4;F5H2C8;Q5T6F2	.;.;UBAP2_HUMAN	E	68;68;68;30;8;68;68;68	ENSP00000368540:Q68E;ENSP00000416932:Q68E;ENSP00000354039:Q68E;ENSP00000404436:Q68E;ENSP00000414800:Q68E	ENSP00000259602:Q68E	Q	-	1	0	UBAP2	33986307	1.000000	0.71417	1.000000	0.80357	0.319000	0.28217	9.314000	0.96306	2.780000	0.95670	0.585000	0.79938	CAG	UBAP2	-	pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk		0.343	UBAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBAP2	HGNC	protein_coding	OTTHUMT00000001071.1	G	NM_018449		33996307	-1	no_errors	ENST00000360802	ensembl	human	known	70_37	missense	SNP	1.000	C
UBE2Q1	55585	genome.wustl.edu	37	1	154523423	154523423	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:154523423C>T	ENST00000292211.4	-	12	1307	c.1228G>A	c.(1228-1230)Gaa>Aaa	p.E410K	UBE2Q1_ENST00000497453.1_5'Flank|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	410					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTTTTTTTCGTGGATCTGC	0.537																																																	0													214.0	203.0	207.0					1																	154523423		2203	4300	6503	SO:0001583	missense	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.1228G>A	1.37:g.154523423C>T	ENSP00000292211:p.Glu410Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.E410K	ENST00000292211.4	37	c.1228	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533028	0.85812	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.51	4.61	0.57282	Ubiquitin-conjugating enzyme/RWD-like (1);	0.168050	0.51477	N	0.000096	T	0.43389	0.1245	M	0.78223	2.4	0.46044	D	0.998839	P	0.47106	0.89	B	0.36845	0.234	T	0.57745	-0.7758	9	0.87932	D	0	-9.2513	12.0885	0.53710	0.0:0.918:0.0:0.082	.	410	Q7Z7E8	UB2Q1_HUMAN	K	410	.	ENSP00000292211:E410K	E	-	1	0	UBE2Q1	152790047	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.130000	0.77235	1.576000	0.49790	0.561000	0.74099	GAA	UBE2Q1	-	NULL		0.537	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	C	NM_017582		154523423	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	missense	SNP	1.000	T
UBE2Q1	55585	genome.wustl.edu	37	1	154525569	154525569	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:154525569C>T	ENST00000292211.4	-	5	747	c.668G>A	c.(667-669)gGa>gAa	p.G223E	UBE2Q1_ENST00000497453.1_5'UTR|UBE2Q1-AS1_ENST00000441613.1_RNA	NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	223					embryo implantation (GO:0007566)|fertilization (GO:0009566)|mating behavior (GO:0007617)|prolactin secretion (GO:0070459)|protein ubiquitination (GO:0016567)|reproductive system development (GO:0061458)|suckling behavior (GO:0001967)		acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTTTTCTTTTCCAATGCCATC	0.453																																																	0													158.0	153.0	155.0					1																	154525569		2203	4300	6503	SO:0001583	missense	55585			AJ243666	CCDS1069.1	1q22	2008-05-02	2008-05-02	2005-08-05	ENSG00000160714	ENSG00000160714		"""Ubiquitin-conjugating enzymes E2"""	15698	protein-coding gene	gene with protein product			"""ubiquitin-conjugating enzyme E2Q (putative)"""	UBE2Q			Standard	NM_017582		Approved	PRO3094, NICE-5	uc001fff.1	Q7Z7E8	OTTHUMG00000037265	ENST00000292211.4:c.668G>A	1.37:g.154525569C>T	ENSP00000292211:p.Gly223Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF92|Q3B841|Q5I0X2|Q6IS04|Q6P7P2|Q96MV4|Q9BVX5|Q9UGL6	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.G223E	ENST00000292211.4	37	c.668	CCDS1069.1	1	.	.	.	.	.	.	.	.	.	.	C	6.361	0.434690	0.12045	.	.	ENSG00000160714	ENST00000292211	.	.	.	5.51	5.51	0.81932	.	0.058194	0.64402	D	0.000002	T	0.04543	0.0124	N	0.00246	-1.78	0.46874	D	0.999236	B	0.02656	0.0	B	0.04013	0.001	T	0.46148	-0.9212	9	0.02654	T	1	-10.364	11.5555	0.50745	0.0:0.919:0.0:0.081	.	223	Q7Z7E8	UB2Q1_HUMAN	E	223	.	ENSP00000292211:G223E	G	-	2	0	UBE2Q1	152792193	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	3.932000	0.56537	2.873000	0.98535	0.561000	0.74099	GGA	UBE2Q1	-	NULL		0.453	UBE2Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2Q1	HGNC	protein_coding	OTTHUMT00000090704.1	C	NM_017582		154525569	-1	no_errors	ENST00000292211	ensembl	human	known	70_37	missense	SNP	1.000	T
UBE3C	9690	genome.wustl.edu	37	7	157041173	157041173	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:157041173G>A	ENST00000348165.5	+	19	2953	c.2593G>A	c.(2593-2595)Gag>Aag	p.E865K		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	865	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTAGACCCTGAGGTGTATAA	0.527																																																	0													157.0	159.0	158.0					7																	157041173		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2593G>A	7.37:g.157041173G>A	ENSP00000309198:p.Glu865Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.E865K	ENST00000348165.5	37	c.2593	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	18.67	3.674777	0.67928	.	.	ENSG00000009335	ENST00000348165	T	0.59224	0.28	5.61	5.61	0.85477	HECT (4);	0.048860	0.85682	D	0.000000	T	0.75332	0.3835	M	0.89715	3.055	0.80722	D	1	P;B	0.35575	0.51;0.316	P;B	0.45913	0.497;0.395	T	0.76364	-0.2986	10	0.44086	T	0.13	.	19.6379	0.95744	0.0:0.0:1.0:0.0	.	865;718	Q15386;B4DHJ9	UBE3C_HUMAN;.	K	865	ENSP00000309198:E865K	ENSP00000309198:E865K	E	+	1	0	UBE3C	156733934	1.000000	0.71417	0.264000	0.24511	0.005000	0.04900	9.365000	0.97139	2.657000	0.90304	0.655000	0.94253	GAG	UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.527	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	G	NM_014671		157041173	+1	no_errors	ENST00000348165	ensembl	human	known	70_37	missense	SNP	1.000	A
UBE3C	9690	genome.wustl.edu	37	7	157041184	157041184	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:157041184G>C	ENST00000348165.5	+	19	2964	c.2604G>C	c.(2602-2604)aaG>aaC	p.K868N		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	868	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		AGGTGTATAAGAATTTGCTCT	0.537																																																	0													162.0	164.0	163.0					7																	157041184		2203	4300	6503	SO:0001583	missense	9690			AK127280	CCDS34789.1	7q36.3	2004-05-04			ENSG00000009335	ENSG00000009335			16803	protein-coding gene	gene with protein product		614454				7584026, 11278995	Standard	NM_014671		Approved	KIAA0010, KIAA10	uc010lqs.3	Q15386	OTTHUMG00000157239	ENST00000348165.5:c.2604G>C	7.37:g.157041184G>C	ENSP00000309198:p.Lys868Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D235|A6NCP3|Q8TC15|Q96CR4|Q9UDU3	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_DHFR-like_dom,smart_IQ_motif_EF-hand-BS,smart_HECT,pfscan_HECT,pfscan_IQ_motif_EF-hand-BS	p.K868N	ENST00000348165.5	37	c.2604	CCDS34789.1	7	.	.	.	.	.	.	.	.	.	.	G	6.063	0.380009	0.11466	.	.	ENSG00000009335	ENST00000348165	T	0.57107	0.42	5.61	1.07	0.20283	HECT (4);	0.448050	0.22721	N	0.056448	T	0.35038	0.0918	L	0.27975	0.815	0.80722	D	1	B;B	0.12630	0.006;0.002	B;B	0.22152	0.038;0.026	T	0.07424	-1.0773	10	0.36615	T	0.2	.	7.32	0.26521	0.2437:0.2272:0.5291:0.0	.	868;721	Q15386;B4DHJ9	UBE3C_HUMAN;.	N	868	ENSP00000309198:K868N	ENSP00000309198:K868N	K	+	3	2	UBE3C	156733945	0.998000	0.40836	0.026000	0.17262	0.012000	0.07955	0.597000	0.24059	0.285000	0.22329	0.655000	0.94253	AAG	UBE3C	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT		0.537	UBE3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3C	HGNC	protein_coding	OTTHUMT00000348108.1	G	NM_014671		157041184	+1	no_errors	ENST00000348165	ensembl	human	known	70_37	missense	SNP	0.033	C
UBE3D	90025	genome.wustl.edu	37	6	83767592	83767592	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:83767592C>G	ENST00000369747.3	-	2	349	c.227G>C	c.(226-228)gGa>gCa	p.G76A		NM_198920.1	NP_944602.1	Q7Z6J8	UBE3D_HUMAN	ubiquitin protein ligase E3D	76					protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)										CAGTCCATCTCCAACAACAAA	0.468											OREG0017549	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													78.0	76.0	77.0					6																	83767592		2203	4300	6503	SO:0001583	missense	90025			AL137544	CCDS34491.1	6q15	2012-02-24	2012-02-24	2012-02-24	ENSG00000118420	ENSG00000118420			21381	protein-coding gene	gene with protein product	"""UBCH10 binding protein with a hect-like domain"""	612495	"""chromosome 6 open reading frame 157"", ""ubiquitin-conjugating enzyme E2C binding protein"""	C6orf157, UBE2CBP		15749827	Standard	NM_198920		Approved	DKFZp434A1520, H10BH, YJR141W	uc003pjp.2	Q7Z6J8	OTTHUMG00000015108	ENST00000369747.3:c.227G>C	6.37:g.83767592C>G	ENSP00000358762:p.Gly76Ala	Somatic	1224	WXS	Illumina HiSeq	Phase_IV	B4DP63|Q5T4W2|Q6IPR4|Q75UG0|Q9NT42	Missense_Mutation	SNP	pfam_UBQ-conj_enz_E2-bd_prot	p.G76A	ENST00000369747.3	37	c.227	CCDS34491.1	6	.	.	.	.	.	.	.	.	.	.	C	15.08	2.725724	0.48833	.	.	ENSG00000118420	ENST00000369747	T	0.28895	1.59	5.27	4.41	0.53225	.	0.232876	0.44483	D	0.000458	T	0.42268	0.1195	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.41752	-0.9491	10	0.52906	T	0.07	-10.7945	11.2983	0.49290	0.0:0.9148:0.0:0.0852	.	76;76	D6RD24;Q7Z6J8	.;UB2CB_HUMAN	A	76	ENSP00000358762:G76A	ENSP00000358762:G76A	G	-	2	0	UBE2CBP	83824311	0.897000	0.30589	0.851000	0.33527	0.329000	0.28539	2.786000	0.47790	1.467000	0.48044	0.650000	0.86243	GGA	UBE3D	-	pfam_UBQ-conj_enz_E2-bd_prot		0.468	UBE3D-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE3D	HGNC	protein_coding	OTTHUMT00000041347.7	C	NM_198920		83767592	-1	no_errors	ENST00000369747	ensembl	human	known	70_37	missense	SNP	0.975	G
UBE4B	10277	genome.wustl.edu	37	1	10195164	10195164	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:10195164G>C	ENST00000253251.8	+	15	2596	c.1757G>C	c.(1756-1758)aGa>aCa	p.R586T	UBE4B_ENST00000343090.6_Missense_Mutation_p.R715T|UBE4B_ENST00000377157.3_Missense_Mutation_p.R470T					ubiquitination factor E4B											NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TTTCACCCAAGATGTCGGATT	0.423																																																	0													131.0	116.0	121.0					1																	10195164		2203	4300	6503	SO:0001583	missense	10277			AF091093	CCDS110.1, CCDS41245.1	1p36.1	2013-01-28	2011-05-19		ENSG00000130939	ENSG00000130939		"""U-box domain containing"""	12500	protein-coding gene	gene with protein product		613565	"""ubiquitination factor E4B (homologous to yeast UFD2)"", ""ubiquitination factor E4B (UFD2 homolog, yeast)"""			9734811, 10089879	Standard	NM_006048		Approved	UBOX3, E4, UFD2, KIAA0684	uc001aqs.4	O95155	OTTHUMG00000001797	ENST00000253251.8:c.1757G>C	1.37:g.10195164G>C	ENSP00000253251:p.Arg586Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ub_conjug_fac_E4_core,pfam_Ubox_domain,smart_Ubox_domain	p.R715T	ENST00000253251.8	37	c.2144	CCDS110.1	1	.	.	.	.	.	.	.	.	.	.	G	11.86	1.763462	0.31228	.	.	ENSG00000130939	ENST00000253251;ENST00000377157;ENST00000343090	T;T;T	0.39229	1.09;1.09;1.09	6.04	4.14	0.48551	Ubiquitin conjugation factor E4, core (1);	0.168749	0.64402	D	0.000007	T	0.22166	0.0534	N	0.11427	0.14	0.36005	D	0.837641	B;B;B	0.20671	0.018;0.047;0.015	B;B;B	0.22601	0.016;0.04;0.009	T	0.15350	-1.0440	10	0.17832	T	0.49	-12.1883	9.5567	0.39343	0.2186:0.0:0.7814:0.0	.	586;715;586	A8K8S9;O95155;O95155-2	.;UBE4B_HUMAN;.	T	586;470;715	ENSP00000253251:R586T;ENSP00000366362:R470T;ENSP00000343001:R715T	ENSP00000253251:R586T	R	+	2	0	UBE4B	10117751	0.999000	0.42202	0.759000	0.31340	0.362000	0.29581	2.725000	0.47294	0.847000	0.35167	0.637000	0.83480	AGA	UBE4B	-	pfam_Ub_conjug_fac_E4_core		0.423	UBE4B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE4B	HGNC	protein_coding	OTTHUMT00000005017.1	G	NM_006048		10195164	+1	no_errors	ENST00000343090	ensembl	human	known	70_37	missense	SNP	0.952	C
UBR1	197131	genome.wustl.edu	37	15	43329982	43329982	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:43329982G>C	ENST00000290650.4	-	17	2089	c.2011C>G	c.(2011-2013)Ctt>Gtt	p.L671V	UBR1_ENST00000382177.2_Missense_Mutation_p.L671V	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	671					cellular response to leucine (GO:0071233)|negative regulation of TOR signaling (GO:0032007)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|proteasome complex (GO:0000502)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGGCTAATAAGAGACAGTCCA	0.378																																																	0													83.0	68.0	73.0					15																	43329982		2203	4299	6502	SO:0001583	missense	197131				CCDS10091.1	15q13	2008-06-23			ENSG00000159459	ENSG00000159459		"""Ubiquitin protein ligase E3 component n-recognins"""	16808	protein-coding gene	gene with protein product		605981				9653112	Standard	NM_174916		Approved		uc001zqq.3	Q8IWV7	OTTHUMG00000130702	ENST00000290650.4:c.2011C>G	15.37:g.43329982G>C	ENSP00000290650:p.Leu671Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O60708|O75492|Q14D45|Q68DN9|Q8IWY6|Q96JY4	Missense_Mutation	SNP	pfam_ClpS_core,pfam_Znf_N-recognin,superfamily_Ribosomal_L7/12_C/ClpS-like,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.L671V	ENST00000290650.4	37	c.2011	CCDS10091.1	15	.	.	.	.	.	.	.	.	.	.	G	13.46	2.244336	0.39697	.	.	ENSG00000159459	ENST00000290650;ENST00000382177;ENST00000546274	D;D	0.84442	-1.85;-1.85	4.92	4.0	0.46444	.	0.088156	0.47093	D	0.000253	T	0.80149	0.4570	M	0.73598	2.24	0.53688	D	0.999972	P;P	0.49253	0.89;0.921	B;B	0.39419	0.299;0.284	T	0.75825	-0.3181	10	0.18710	T	0.47	-2.4993	7.6911	0.28569	0.1315:0.0:0.7215:0.1469	.	671;671	B4DYL2;Q8IWV7	.;UBR1_HUMAN	V	671	ENSP00000290650:L671V;ENSP00000371612:L671V	ENSP00000290650:L671V	L	-	1	0	UBR1	41117274	1.000000	0.71417	0.998000	0.56505	0.407000	0.30961	2.165000	0.42396	2.712000	0.92718	0.563000	0.77884	CTT	UBR1	-	NULL		0.378	UBR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBR1	HGNC	protein_coding	OTTHUMT00000253202.1	G	NM_174916		43329982	-1	no_errors	ENST00000290650	ensembl	human	known	70_37	missense	SNP	0.998	C
UBR3	130507	genome.wustl.edu	37	2	170783844	170783844	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:170783844G>C	ENST00000272793.5	+	17	2403	c.2353G>C	c.(2353-2355)Gag>Cag	p.E785Q	UBR3_ENST00000418381.1_Missense_Mutation_p.E785Q			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	785					embryo development (GO:0009790)|in utero embryonic development (GO:0001701)|olfactory behavior (GO:0042048)|sensory perception of smell (GO:0007608)|suckling behavior (GO:0001967)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GTCTGATGATGAGATTCTCAG	0.333																																																	0													105.0	97.0	100.0					2																	170783844		692	1591	2283	SO:0001583	missense	130507			AL834144	CCDS2238.2	2q31.1	2008-06-23	2008-06-23	2007-11-29	ENSG00000144357	ENSG00000144357		"""Ubiquitin protein ligase E3 component n-recognins"""	30467	protein-coding gene	gene with protein product		613831	"""zinc finger protein 650"""	ZNF650		17462990	Standard	NM_172070		Approved	KIAA2024, DKFZp434P117, FLJ37422	uc010zdi.2	Q6ZT12	OTTHUMG00000132229	ENST00000272793.5:c.2353G>C	2.37:g.170783844G>C	ENSP00000272793:p.Glu785Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZR7|Q2KHN5|Q6ZR55|Q6ZSC2|Q8IVE7|Q8ND96	Missense_Mutation	SNP	pfam_Znf_N-recognin,smart_Znf_N-recognin_met,pfscan_Znf_N-recognin	p.E785Q	ENST00000272793.5	37	c.2353		2	.	.	.	.	.	.	.	.	.	.	G	20.4	3.987546	0.74589	.	.	ENSG00000144357	ENST00000272793;ENST00000442603;ENST00000418381	T;T	0.50813	0.73;0.73	5.7	5.7	0.88788	.	.	.	.	.	T	0.44767	0.1309	L	0.35854	1.095	0.80722	D	1	P	0.48089	0.905	P	0.45232	0.474	T	0.33317	-0.9873	9	0.42905	T	0.14	.	16.1244	0.81382	0.0:0.0:0.8659:0.1341	.	785	Q6ZT12	UBR3_HUMAN	Q	785	ENSP00000272793:E785Q;ENSP00000396068:E785Q	ENSP00000272793:E785Q	E	+	1	0	UBR3	170492090	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.476000	0.97823	2.703000	0.92315	0.650000	0.86243	GAG	UBR3	-	NULL		0.333	UBR3-001	KNOWN	non_canonical_conserved|basic|appris_principal	protein_coding	UBR3	HGNC	protein_coding	OTTHUMT00000255290.2	G	NM_172070		170783844	+1	no_errors	ENST00000272793	ensembl	human	known	70_37	missense	SNP	1.000	C
UBR5	51366	genome.wustl.edu	37	8	103358595	103358595	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:103358595C>T	ENST00000520539.1	-	7	1211	c.605G>A	c.(604-606)aGa>aAa	p.R202K	UBR5_ENST00000220959.4_Missense_Mutation_p.R202K|UBR5_ENST00000521922.1_Missense_Mutation_p.R202K	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	202					cell proliferation (GO:0008283)|cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of protein import into nucleus, translocation (GO:0033160)|progesterone receptor signaling pathway (GO:0050847)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ligase activity (GO:0016874)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-ubiquitin ligase activity (GO:0034450)|zinc ion binding (GO:0008270)			NS(1)|breast(13)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(19)|liver(1)|lung(51)|ovary(6)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	124	all_cancers(14;8e-07)|all_epithelial(15;2.18e-08)|Lung NSC(17;2.55e-05)|all_lung(17;8.85e-05)		OV - Ovarian serous cystadenocarcinoma(57;0.000442)			AATGACACTTCTGGATTTGCC	0.333																																					Ovarian(131;96 1741 5634 7352 27489)												0													92.0	88.0	89.0					8																	103358595		2203	4300	6503	SO:0001583	missense	51366			AF006010	CCDS34933.1, CCDS64946.1	8q22	2008-06-23	2007-06-19	2007-06-19	ENSG00000104517	ENSG00000104517		"""Ubiquitin protein ligase E3 component n-recognins"""	16806	protein-coding gene	gene with protein product		608413	"""E3 ubiquitin protein ligase, HECT domain containing, 1"""	EDD1		10030672, 16055722	Standard	NM_015902		Approved	DD5, HYD, EDD, KIAA0896	uc003ykr.2	O95071	OTTHUMG00000164755	ENST00000520539.1:c.605G>A	8.37:g.103358595C>T	ENSP00000429084:p.Arg202Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP24|J3KMW7|O94970|Q9NPL3	Missense_Mutation	SNP	pfam_HECT,pfam_E3_UbLigase_EDD_UBA,pfam_PABP_HYD,pfam_Znf_N-recognin,superfamily_HECT,superfamily_PABP_HYD,superfamily_Reg_csome_cond/b-lactamase_inh,smart_Znf_N-recognin_met,smart_PABP_HYD,smart_HECT,pfscan_HECT,pfscan_Znf_N-recognin	p.R202K	ENST00000520539.1	37	c.605	CCDS34933.1	8	.	.	.	.	.	.	.	.	.	.	C	36	5.721807	0.96839	.	.	ENSG00000104517	ENST00000520539;ENST00000220959;ENST00000521922	T;T;T	0.79940	-1.27;-1.27;-1.32	5.47	5.47	0.80525	E3 ubiquitin ligase EDD, ubiquitin-associated domain (1);	0.000000	0.85682	D	0.000000	D	0.88149	0.6359	L	0.57536	1.79	0.80722	D	1	P;P	0.49185	0.92;0.92	D;D	0.63957	0.92;0.92	D	0.88444	0.3044	10	0.87932	D	0	.	19.6975	0.96031	0.0:1.0:0.0:0.0	.	202;202	E7EMW7;O95071	.;UBR5_HUMAN	K	202	ENSP00000429084:R202K;ENSP00000220959:R202K;ENSP00000427819:R202K	ENSP00000220959:R202K	R	-	2	0	UBR5	103427771	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.718000	0.84743	2.729000	0.93468	0.557000	0.71058	AGA	UBR5	-	pfam_E3_UbLigase_EDD_UBA		0.333	UBR5-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	UBR5	HGNC	protein_coding	OTTHUMT00000380075.2	C	NM_015902		103358595	-1	no_errors	ENST00000520539	ensembl	human	known	70_37	missense	SNP	1.000	T
UGCG	7357	genome.wustl.edu	37	9	114688771	114688771	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:114688771G>C	ENST00000374279.3	+	5	1003	c.553G>C	c.(553-555)Gag>Cag	p.E185Q	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	185					epidermis development (GO:0008544)|glucosylceramide biosynthetic process (GO:0006679)|glycosphingolipid biosynthetic process (GO:0006688)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ceramide glucosyltransferase activity (GO:0008120)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TGCCACCTTAGAGCAGGTGAG	0.453																																																	0													99.0	92.0	94.0					9																	114688771		2203	4300	6503	SO:0001583	missense	7357			D50840	CCDS6782.1	9q31	2014-03-13			ENSG00000148154	ENSG00000148154	2.4.1.80	"""Glycosyltransferase family 2 domain containing"""	12524	protein-coding gene	gene with protein product	"""glucosylceramide synthase"", ""ceramide glucosyltransferase"""	602874				8643456, 9605861	Standard	NM_003358		Approved	GCS	uc004bft.3	Q16739	OTTHUMG00000020498	ENST00000374279.3:c.553G>C	9.37:g.114688771G>C	ENSP00000363397:p.Glu185Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T258	Missense_Mutation	SNP	pfam_Glyco_trans_2	p.E185Q	ENST00000374279.3	37	c.553	CCDS6782.1	9	.	.	.	.	.	.	.	.	.	.	G	36	5.854481	0.97030	.	.	ENSG00000148154	ENST00000374279	T	0.58652	0.32	5.77	5.77	0.91146	Glycosyl transferase, family 2 (1);	0.089333	0.85682	D	0.000000	T	0.73651	0.3614	M	0.69248	2.105	0.80722	D	1	P	0.51791	0.948	P	0.60286	0.872	T	0.71241	-0.4651	10	0.46703	T	0.11	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	185	Q16739	CEGT_HUMAN	Q	185	ENSP00000363397:E185Q	ENSP00000363397:E185Q	E	+	1	0	UGCG	113728592	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.658000	0.98594	2.885000	0.99019	0.655000	0.94253	GAG	UGCG	-	pfam_Glyco_trans_2		0.453	UGCG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGCG	HGNC	protein_coding	OTTHUMT00000053661.1	G	NM_003358		114688771	+1	no_errors	ENST00000374279	ensembl	human	known	70_37	missense	SNP	1.000	C
UGT2B28	54490	genome.wustl.edu	37	4	70160416	70160416	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:70160416G>C	ENST00000335568.5	+	6	1481	c.1479G>C	c.(1477-1479)gtG>gtC	p.V493V	UGT2B28_ENST00000511240.1_3'UTR	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	493					metabolic process (GO:0008152)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						CTTTGGATGTGATTGGGTTTC	0.463																																																	0													94.0	101.0	98.0					4																	70160416		2047	4236	6283	SO:0001819	synonymous_variant	54490			AF177272	CCDS3528.1, CCDS56330.1	4q13.3	2011-02-09	2005-07-20		ENSG00000135226	ENSG00000135226		"""UDP glucuronosyltransferases"""	13479	protein-coding gene	gene with protein product		606497	"""UDP glycosyltransferase 2 family, polypeptide B28"""			11300766	Standard	NM_053039		Approved		uc003hej.3	Q9BY64	OTTHUMG00000129401	ENST00000335568.5:c.1479G>C	4.37:g.70160416G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B5BUM0|Q9BY62|Q9BY63	Silent	SNP	pfam_UDP_glucos_trans,pfam_Glyco_trans_28_C	p.V493	ENST00000335568.5	37	c.1479	CCDS3528.1	4																																																																																			UGT2B28	-	pfam_UDP_glucos_trans		0.463	UGT2B28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGT2B28	HGNC	protein_coding	OTTHUMT00000251557.2	G	NM_053039		70160416	+1	no_errors	ENST00000335568	ensembl	human	known	70_37	silent	SNP	0.998	C
UHRF1BP1L	23074	genome.wustl.edu	37	12	100441743	100441743	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:100441743G>C	ENST00000279907.7	-	18	4162	c.3950C>G	c.(3949-3951)tCt>tGt	p.S1317C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.S967C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1317										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						tttCGTGTTAGAAACTTGTAT	0.284																																																	0													17.0	17.0	17.0					12																	100441743		2179	4276	6455	SO:0001583	missense	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.3950C>G	12.37:g.100441743G>C	ENSP00000279907:p.Ser1317Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Missense_Mutation	SNP	NULL	p.S1317C	ENST00000279907.7	37	c.3950	CCDS31882.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.60|16.60	3.169100|3.169100	0.57584|0.57584	.|.	.|.	ENSG00000111647|ENSG00000111647	ENST00000548712|ENST00000279907;ENST00000545232	.|T;T	.|0.10763	.|2.85;2.84	5.65|5.65	5.65|5.65	0.86999|0.86999	.|.	.|0.249702	.|0.42682	.|D	.|0.000669	T|T	0.20577|0.20577	0.0495|0.0495	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|D	.|0.76494	.|0.999	.|P	.|0.59825	.|0.864	T|T	0.00123|0.00123	-1.2026|-1.2026	5|10	.|0.66056	.|D	.|0.02	-15.0083|-15.0083	14.5602|14.5602	0.68130|0.68130	0.0:0.0:0.8538:0.1462|0.0:0.0:0.8538:0.1462	.|.	.|1317	.|A0JNW5	.|UH1BL_HUMAN	V|C	78|1317;967	.|ENSP00000279907:S1317C;ENSP00000444824:S967C	.|ENSP00000279907:S1317C	L|S	-|-	1|2	2|0	UHRF1BP1L|UHRF1BP1L	98965874|98965874	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.861000|0.861000	0.49209|0.49209	4.158000|4.158000	0.58150|0.58150	2.660000|2.660000	0.90430|0.90430	0.467000|0.467000	0.42956|0.42956	CTA|TCT	UHRF1BP1L	-	NULL		0.284	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	G	NM_001006947		100441743	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	missense	SNP	1.000	C
UHRF1BP1L	23074	genome.wustl.edu	37	12	100482793	100482793	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:100482793C>T	ENST00000279907.7	-	8	1133	c.921G>A	c.(919-921)gtG>gtA	p.V307V	UHRF1BP1L_ENST00000545232.2_5'UTR|UHRF1BP1L_ENST00000356828.3_Silent_p.V307V	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	307										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TGAATAGTTTCACAATTGCAT	0.368																																																	0													104.0	98.0	100.0					12																	100482793		2203	4300	6503	SO:0001819	synonymous_variant	23074				CCDS31882.1, CCDS31883.1	12q23.1	2011-04-15	2008-08-15		ENSG00000111647	ENSG00000111647			29102	protein-coding gene	gene with protein product							Standard	XM_005268737		Approved	KIAA0701	uc001tgq.3	A0JNW5	OTTHUMG00000170195	ENST00000279907.7:c.921G>A	12.37:g.100482793C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJE5|O75183|Q8NDL1|Q96C30|Q9BTS5|Q9H0F1	Silent	SNP	NULL	p.V307	ENST00000279907.7	37	c.921	CCDS31882.1	12																																																																																			UHRF1BP1L	-	NULL		0.368	UHRF1BP1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF1BP1L	HGNC	protein_coding	OTTHUMT00000407875.1	C	NM_001006947		100482793	-1	no_errors	ENST00000279907	ensembl	human	known	70_37	silent	SNP	0.989	T
UNK	85451	genome.wustl.edu	37	17	73820430	73820430	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:73820430G>C	ENST00000589666.1	+	16	2475	c.2365G>C	c.(2365-2367)Gag>Cag	p.E789Q	UNK_ENST00000293218.3_Missense_Mutation_p.E865Q	NM_001080419.2	NP_001073888.2	Q9C0B0	UNK_HUMAN	unkempt family zinc finger	789							poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGCGCTGTGTGAGCTCTGCGC	0.657																																																	0													28.0	28.0	28.0					17																	73820430		2108	4222	6330	SO:0001583	missense	85451			AB051540	CCDS45778.1, CCDS45778.2	17q25.3	2013-10-17	2013-10-17	2007-02-06		ENSG00000132478		"""Zinc fingers, CCCH-type domain containing"""	29369	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 5"", ""zinc finger CCCH-type containing 5"", ""unkempt homolog (Drosophila)"""	ZC3HDC5, ZC3H5		11214970	Standard	NM_001080419		Approved	KIAA1753	uc021udd.2	Q9C0B0		ENST00000589666.1:c.2365G>C	17.37:g.73820430G>C	ENSP00000464893:p.Glu789Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.E865Q	ENST00000589666.1	37	c.2593	CCDS45778.2	17	.	.	.	.	.	.	.	.	.	.	G	19.68	3.872246	0.72180	.	.	ENSG00000132478	ENST00000293218	.	.	.	4.91	4.91	0.64330	Zinc finger, RING-type (1);	0.054508	0.64402	D	0.000001	T	0.74275	0.3695	L	0.55103	1.725	0.80722	D	1	D	0.76494	0.999	D	0.64144	0.922	T	0.75388	-0.3335	9	0.52906	T	0.07	-21.9178	18.3073	0.90187	0.0:0.0:1.0:0.0	.	789	Q9C0B0	UNK_HUMAN	Q	865	.	ENSP00000293218:E865Q	E	+	1	0	UNK	71332025	1.000000	0.71417	0.991000	0.47740	0.255000	0.26057	9.056000	0.93881	2.561000	0.86390	0.563000	0.77884	GAG	UNK	-	NULL		0.657	UNK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNK	HGNC	protein_coding	OTTHUMT00000448835.1	G	NM_001080419		73820430	+1	no_errors	ENST00000293218	ensembl	human	known	70_37	missense	SNP	1.000	C
UQCRC1	7384	genome.wustl.edu	37	3	48643248	48643248	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:48643248C>T	ENST00000203407.5	-	3	668	c.252G>A	c.(250-252)gaG>gaA	p.E84E		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	84					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, ubiquinol to cytochrome c (GO:0006122)|oxidation-reduction process (GO:0055114)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|response to activity (GO:0014823)|response to alkaloid (GO:0043279)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|ubiquinol-cytochrome-c reductase activity (GO:0008121)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CATTATTCTTCTCAGTCTCAA	0.517																																					NSCLC(81;1112 1427 27031 32409 45529)												0													141.0	135.0	137.0					3																	48643248		2203	4300	6503	SO:0001819	synonymous_variant	7384			BC009586	CCDS2774.1	3p21	2011-07-04			ENSG00000010256	ENSG00000010256	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12585	protein-coding gene	gene with protein product		191328				8407948	Standard	NM_003365		Approved	D3S3191, QCR1, UQCR1	uc003cub.1	P31930	OTTHUMG00000133539	ENST00000203407.5:c.252G>A	3.37:g.48643248C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7R8|Q96DD2	Missense_Mutation	SNP	NULL	p.R39K	ENST00000203407.5	37	c.116	CCDS2774.1	3																																																																																			UQCRC1	-	NULL		0.517	UQCRC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC1	HGNC	protein_coding	OTTHUMT00000257517.1	C	NM_003365		48643248	-1	no_errors	ENST00000415995	ensembl	human	known	70_37	missense	SNP	1.000	T
UQCRC2	7385	genome.wustl.edu	37	16	21974083	21974083	+	Splice_Site	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:21974083G>A	ENST00000268379.4	+	6	1155	c.391G>A	c.(391-393)Gat>Aat	p.D131N	UQCRC2_ENST00000561553.1_Splice_Site_p.D131N	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	131					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CTTCTGTAGTGATATTCTAAT	0.398																																					Colon(123;450 1645 12841 25393 45623)												0													125.0	115.0	118.0					16																	21974083		2198	4300	6498	SO:0001630	splice_region_variant	7385			J04973	CCDS10601.1	16p12	2011-07-04			ENSG00000140740	ENSG00000140740	1.10.2.2	"""Mitochondrial respiratory chain complex / Complex III"""	12586	protein-coding gene	gene with protein product		191329				8288258, 2547763	Standard	NM_003366		Approved	QCR2, UQCR2	uc002djx.3	P22695	OTTHUMG00000131585	ENST00000268379.4:c.390-1G>A	16.37:g.21974083G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSN4|Q9BQ05	Missense_Mutation	SNP	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.D131N	ENST00000268379.4	37	c.391	CCDS10601.1	16	.	.	.	.	.	.	.	.	.	.	G	15.17	2.754068	0.49362	.	.	ENSG00000140740	ENST00000268379	T	0.33438	1.41	4.8	4.8	0.61643	Peptidase M16, core (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);Peptidase M16, N-terminal (1);	0.134947	0.64402	D	0.000003	T	0.33440	0.0863	L	0.59912	1.85	0.80722	D	1	B	0.11235	0.004	B	0.15484	0.013	T	0.10636	-1.0621	10	0.41790	T	0.15	-8.0586	16.7867	0.85575	0.0:0.0:1.0:0.0	.	131	P22695	QCR2_HUMAN	N	131	ENSP00000268379:D131N	ENSP00000268379:D131N	D	+	1	0	UQCRC2	21881584	1.000000	0.71417	0.997000	0.53966	0.439000	0.31926	9.328000	0.96403	2.361000	0.80049	0.563000	0.77884	GAT	UQCRC2	-	pfam_Pept_M16_N,superfamily_Metalloenz_metal-bd		0.398	UQCRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UQCRC2	HGNC	protein_coding	OTTHUMT00000254466.1	G	NM_003366	Missense_Mutation	21974083	+1	no_errors	ENST00000268379	ensembl	human	known	70_37	missense	SNP	1.000	A
URB1	9875	genome.wustl.edu	37	21	33750820	33750820	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr21:33750820G>A	ENST00000382751.3	-	5	713	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	SNORA80_ENST00000363922.1_RNA	NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	200						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						AGAGCAAACTGAACGTAGGCC	0.483																																																	0													158.0	126.0	136.0					21																	33750820		692	1591	2283	SO:0001587	stop_gained	9875			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.598C>T	21.37:g.33750820G>A	ENSP00000372199:p.Gln200*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Nonsense_Mutation	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.Q200*	ENST00000382751.3	37	c.598	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	G	37	6.546508	0.97654	.	.	ENSG00000142207	ENST00000382751	.	.	.	5.74	5.74	0.90152	.	0.069409	0.64402	D	0.000013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-19.8092	20.2982	0.98569	0.0:0.0:1.0:0.0	.	.	.	.	X	200	.	ENSP00000372199:Q200X	Q	-	1	0	URB1	32672691	1.000000	0.71417	1.000000	0.80357	0.589000	0.36550	8.709000	0.91379	2.873000	0.98535	0.563000	0.77884	CAG	URB1	-	pfam_Npa1_N		0.483	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	G			33750820	-1	no_errors	ENST00000382751	ensembl	human	known	70_37	nonsense	SNP	1.000	A
USP19	10869	genome.wustl.edu	37	3	49147892	49147892	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49147892G>C	ENST00000398888.2	-	24	3853	c.3535C>G	c.(3535-3537)Cag>Gag	p.Q1179E	USP19_ENST00000398898.2_Missense_Mutation_p.Q1219E|USP19_ENST00000453664.1_Missense_Mutation_p.Q1270E|USP19_ENST00000398896.1_Missense_Mutation_p.Q987E|USP19_ENST00000417901.1_Missense_Mutation_p.Q1282E|USP19_ENST00000398892.3_Missense_Mutation_p.Q1219E|USP19_ENST00000434032.2_Missense_Mutation_p.Q1280E	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	1179	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCACTGCGCTGACTGCTACGA	0.572																																																	0													82.0	82.0	82.0					3																	49147892		2190	4283	6473	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.3535C>G	3.37:g.49147892G>C	ENSP00000381863:p.Gln1179Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.Q1179E	ENST00000398888.2	37	c.3535	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120887	0.77436	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.28895	1.59;1.59;1.59;1.59;1.59;1.59;1.59	5.37	5.37	0.77165	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.49525	0.1562	L	0.39898	1.24	0.80722	D	1	D;D;D;D;D	0.69078	0.997;0.997;0.994;0.985;0.961	D;D;D;D;P	0.80764	0.994;0.991;0.971;0.981;0.76	T	0.47235	-0.9133	10	0.66056	D	0.02	-21.7155	19.4662	0.94943	0.0:0.0:1.0:0.0	.	1280;1270;1179;1219;987	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	E	987;1219;1282;1270;1219;1179;1280	ENSP00000381870:Q987E;ENSP00000381872:Q1219E;ENSP00000395260:Q1282E;ENSP00000400090:Q1270E;ENSP00000381867:Q1219E;ENSP00000381863:Q1179E;ENSP00000401197:Q1280E	ENSP00000381863:Q1179E	Q	-	1	0	USP19	49122896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.629000	0.98417	2.666000	0.90696	0.561000	0.74099	CAG	USP19	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.572	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	G	NM_006677		49147892	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	C
USP19	10869	genome.wustl.edu	37	3	49151464	49151464	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49151464C>G	ENST00000398888.2	-	16	2475	c.2157G>C	c.(2155-2157)caG>caC	p.Q719H	USP19_ENST00000398898.2_Missense_Mutation_p.Q759H|USP19_ENST00000453664.1_Missense_Mutation_p.Q810H|USP19_ENST00000398896.1_Missense_Mutation_p.Q527H|USP19_ENST00000417901.1_Missense_Mutation_p.Q822H|USP19_ENST00000398892.3_Missense_Mutation_p.Q759H|USP19_ENST00000434032.2_Missense_Mutation_p.Q820H	NM_006677.2	NP_006668.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	719	USP.				ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of skeletal muscle tissue development (GO:0048642)|positive regulation of cell cycle process (GO:0090068)|protein deubiquitination (GO:0016579)|regulation of cellular response to hypoxia (GO:1900037)|regulation of protein stability (GO:0031647)|response to endoplasmic reticulum stress (GO:0034976)|skeletal muscle atrophy (GO:0014732)	cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|ubiquitin-specific protease activity (GO:0004843)			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CATGAACACTCTGAGAGAGGG	0.537																																																	0													104.0	107.0	106.0					3																	49151464		2019	4164	6183	SO:0001583	missense	10869			AB020698	CCDS43090.1, CCDS56254.1, CCDS56255.1, CCDS56256.1	3p21.31	2005-10-13	2005-08-08		ENSG00000172046	ENSG00000172046		"""Zinc fingers, MYND-type"", ""Ubiquitin-specific peptidases"""	12617	protein-coding gene	gene with protein product		614471	"""ubiquitin specific protease 19"""			12838346	Standard	NM_001199160		Approved	KIAA0891, ZMYND9	uc011bch.2	O94966	OTTHUMG00000133611	ENST00000398888.2:c.2157G>C	3.37:g.49151464C>G	ENSP00000381863:p.Gln719His	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKX8|A6H8U2|B4DGT3|B4DTZ0|E7EN22|E7ETS0|E9PEG8|Q3KQW4|Q641Q9|Q6NZY8|Q86XV9	Missense_Mutation	SNP	pfam_DUF1872,pfam_Peptidase_C19,pfam_Znf_MYND,pfam_CS_domain,superfamily_HSP20-like_chaperone,pfscan_CS-like_domain,pfscan_Znf_MYND,pfscan_Peptidase_C19	p.Q719H	ENST00000398888.2	37	c.2157	CCDS43090.1	3	.	.	.	.	.	.	.	.	.	.	C	5.399	0.258769	0.10239	.	.	ENSG00000172046	ENST00000398896;ENST00000398898;ENST00000417901;ENST00000453664;ENST00000398892;ENST00000398888;ENST00000434032	T;T;T;T;T;T;T	0.19669	2.13;2.14;2.24;2.24;2.14;2.23;2.24	6.17	3.23	0.37069	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.751020	0.02608	N	0.101785	T	0.19604	0.0471	L	0.34521	1.04	0.36596	D	0.874385	B;B;B;B;B	0.12013	0.005;0.002;0.003;0.001;0.0	B;B;B;B;B	0.11329	0.006;0.003;0.002;0.003;0.001	T	0.16394	-1.0404	10	0.44086	T	0.13	-13.1273	6.9436	0.24506	0.0948:0.6325:0.1445:0.1282	.	820;810;719;759;527	E9PEG8;E7EN22;O94966;B5MEG5;E7ESU0	.;.;UBP19_HUMAN;.;.	H	527;759;822;810;759;719;820	ENSP00000381870:Q527H;ENSP00000381872:Q759H;ENSP00000395260:Q822H;ENSP00000400090:Q810H;ENSP00000381867:Q759H;ENSP00000381863:Q719H;ENSP00000401197:Q820H	ENSP00000381863:Q719H	Q	-	3	2	USP19	49126468	0.999000	0.42202	0.999000	0.59377	0.175000	0.22909	0.674000	0.25218	0.953000	0.37825	-0.797000	0.03246	CAG	USP19	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.537	USP19-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	USP19	HGNC	protein_coding	OTTHUMT00000257721.1	C	NM_006677		49151464	-1	no_errors	ENST00000398888	ensembl	human	known	70_37	missense	SNP	1.000	G
CCDC144A	9720	genome.wustl.edu	37	17	16706959	16706959	+	3'UTR	SNP	C	C	G	rs201090753		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:16706959C>G	ENST00000443444.2	+	0	8104				RP11-219A15.1_ENST00000448331.3_3'UTR|RP11-219A15.4_ENST00000602730.1_RNA|USP32P1_ENST00000393005.2_RNA|RP11-219A15.2_ENST00000582895.1_lincRNA			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		ATTTTTTCCTCTAATTATTCA	0.234																																																	0																																										SO:0001624	3_prime_UTR_variant	162632			BC133019	CCDS45621.1	17p11.2	2008-10-23			ENSG00000170160	ENSG00000170160			29072	protein-coding gene	gene with protein product						9628581, 11997339	Standard	NM_014695		Approved	KIAA0565, FLJ43983	uc002gqk.1	A2RUR9	OTTHUMG00000059178	ENST00000443444.2:c.*3680C>G	17.37:g.16706959C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	O60311|Q6ZU57	RNA	SNP	-	NULL	ENST00000443444.2	37	NULL	CCDS45621.1	17																																																																																			USP32P1	-	-		0.234	CCDC144A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP32P1	HGNC	protein_coding		C			16706959	+1	no_errors	ENST00000341745	ensembl	human	known	70_37	rna	SNP	0.755	G
USP35	57558	genome.wustl.edu	37	11	77911809	77911809	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:77911809C>T	ENST00000529308.1	+	6	1413	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F	USP35_ENST00000530267.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000526425.1_Silent_p.F115F|USP35_ENST00000530535.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	384					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGTTCCGGTTCCCGGGCTTCC	0.622																																																	0													75.0	80.0	78.0					11																	77911809		1937	4122	6059	SO:0001819	synonymous_variant	57558			AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.1152C>T	11.37:g.77911809C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.F384	ENST00000529308.1	37	c.1152	CCDS41693.1	11																																																																																			USP35	-	superfamily_ARM-type_fold		0.622	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP35	HGNC	protein_coding	OTTHUMT00000390026.1	C	XM_290527		77911809	+1	no_errors	ENST00000529308	ensembl	human	known	70_37	silent	SNP	1.000	T
USP43	124739	genome.wustl.edu	37	17	9613288	9613288	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:9613288C>G	ENST00000285199.7	+	13	2123	c.2027C>G	c.(2026-2028)tCt>tGt	p.S676C	USP43_ENST00000570827.2_3'UTR|USP43_ENST00000570475.1_Missense_Mutation_p.S671C	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43	676	USP.				ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitinyl hydrolase activity (GO:0036459)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						TGCCGGAACTCTCTGGATGGC	0.512																																																	0													76.0	76.0	76.0					17																	9613288		1971	4162	6133	SO:0001583	missense	124739			AK055188	CCDS45610.1, CCDS58516.1	17p12	2005-08-08	2005-08-08			ENSG00000154914		"""Ubiquitin-specific peptidases"""	20072	protein-coding gene	gene with protein product			"""ubiquitin specific protease 43"""			12838346	Standard	NM_153210		Approved	FLJ30626	uc010cod.4	Q70EL4		ENST00000285199.7:c.2027C>G	17.37:g.9613288C>G	ENSP00000285199:p.Ser676Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDT9|B7ZLT9|B7ZVX5|Q8N2C5|Q96DQ6	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S676C	ENST00000285199.7	37	c.2027	CCDS45610.1	17	.	.	.	.	.	.	.	.	.	.	C	25.0	4.594943	0.86953	.	.	ENSG00000154914	ENST00000285199	T	0.32988	1.43	5.51	5.51	0.81932	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.53417	0.1795	L	0.59436	1.845	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.83275	0.996;0.992;0.976;0.993	T	0.51379	-0.8713	10	0.62326	D	0.03	-18.197	17.2756	0.87114	0.0:1.0:0.0:0.0	.	671;365;676;188	B7ZVX5;Q70EL4-3;Q70EL4;Q70EL4-2	.;.;UBP43_HUMAN;.	C	676	ENSP00000285199:S676C	ENSP00000285199:S676C	S	+	2	0	USP43	9554013	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.286000	0.78671	2.751000	0.94390	0.650000	0.86243	TCT	USP43	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.512	USP43-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	USP43	HGNC	protein_coding	OTTHUMT00000439855.3	C	NM_153210		9613288	+1	no_errors	ENST00000285199	ensembl	human	known	70_37	missense	SNP	1.000	G
USP51	158880	genome.wustl.edu	37	X	55514414	55514414	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:55514414G>A	ENST00000500968.3	-	2	1041	c.959C>T	c.(958-960)tCt>tTt	p.S320F	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	320					protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						CTGTTGATGAGAAACATCTGT	0.348																																																	0													87.0	86.0	86.0					X																	55514414		2203	4300	6503	SO:0001583	missense	158880			BF741256	CCDS14370.1	Xp11	2009-03-19	2005-08-08		ENSG00000247746	ENSG00000247746		"""Ubiquitin-specific peptidases"""	23086	protein-coding gene	gene with protein product			"""ubiquitin specific protease 51"""			12838346	Standard	NM_201286		Approved		uc004dun.2	Q70EK9	OTTHUMG00000021656	ENST00000500968.3:c.959C>T	X.37:g.55514414G>A	ENSP00000423333:p.Ser320Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWJ8	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_Znf_UBP,pfscan_Znf_UBP,pfscan_Peptidase_C19	p.S320F	ENST00000500968.3	37	c.959	CCDS14370.1	X	.	.	.	.	.	.	.	.	.	.	.	12.76	2.034425	0.35893	.	.	ENSG00000247746	ENST00000500968	T	0.11930	2.73	3.19	2.26	0.28386	.	1.259480	0.06044	U	0.655323	T	0.19046	0.0457	L	0.27053	0.805	0.33510	D	0.591032	D	0.67145	0.996	P	0.56700	0.804	T	0.24012	-1.0172	10	0.72032	D	0.01	.	6.5397	0.22372	0.0:0.0:0.7137:0.2863	.	320	Q70EK9	UBP51_HUMAN	F	320	ENSP00000423333:S320F	ENSP00000423333:S320F	S	-	2	0	USP51	55531139	1.000000	0.71417	0.838000	0.33150	0.956000	0.61745	0.613000	0.24299	0.680000	0.31366	0.508000	0.49915	TCT	USP51	-	NULL		0.348	USP51-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP51	HGNC	protein_coding	OTTHUMT00000056871.2	G	NM_201286		55514414	-1	no_errors	ENST00000500968	ensembl	human	known	70_37	missense	SNP	0.732	A
USP54	159195	genome.wustl.edu	37	10	75277284	75277284	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:75277284G>C	ENST00000339859.4	-	19	3000	c.2900C>G	c.(2899-2901)tCt>tGt	p.S967C	USP54_ENST00000408019.1_Missense_Mutation_p.S967C|RP11-137L10.6_ENST00000600206.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000394811.2_Missense_Mutation_p.S55C|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000422491.2_Missense_Mutation_p.S149C|USP54_ENST00000428547.1_Missense_Mutation_p.S817C|RP11-137L10.6_ENST00000595069.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	967					ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitinyl hydrolase activity (GO:0036459)			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTGGAATGCAGAGGGTTCAAT	0.502																																					Colon(195;880 2046 8854 25025 38456)												0													105.0	92.0	96.0					10																	75277284		2203	4300	6503	SO:0001583	missense	159195			AJ583820	CCDS7329.2	10q22.3	2006-09-26	2005-08-08	2004-01-30	ENSG00000166348	ENSG00000166348		"""Ubiquitin-specific peptidases"""	23513	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 29"", ""ubiquitin specific protease 54"""	C10orf29		14715245	Standard	NM_152586		Approved	FLJ37318, bA137L10.3, bA137L10.4	uc001juo.3	Q70EL1	OTTHUMG00000018469	ENST00000339859.4:c.2900C>G	10.37:g.75277284G>C	ENSP00000345216:p.Ser967Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4Q4|A3KFK3|A3KFK5|A3KFK6|A3KFK7|A6PVS4|A6PVS5|A6PVS6|A6PVS7|B3KVY1|B9ZVM1|Q5F2F4|Q6P1N6|Q6ZSP1|Q6ZSR1|Q6ZTM0|Q8N1X2	Missense_Mutation	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.S967C	ENST00000339859.4	37	c.2900	CCDS7329.2	10	.	.	.	.	.	.	.	.	.	.	G	17.78	3.473556	0.63737	.	.	ENSG00000166348	ENST00000339859;ENST00000408019;ENST00000428547;ENST00000394811;ENST00000422491	T;T;T;T;T	0.37915	1.43;1.43;1.38;1.19;1.17	6.03	5.12	0.69794	.	.	.	.	.	T	0.54111	0.1838	L	0.56769	1.78	0.80722	D	1	D;D	0.71674	0.998;0.99	D;P	0.63192	0.912;0.594	T	0.58370	-0.7648	9	0.87932	D	0	-9.0972	15.0435	0.71811	0.0676:0.0:0.9324:0.0	.	149;967	E7EW90;Q70EL1	.;UBP54_HUMAN	C	967;967;817;55;149	ENSP00000345216:S967C;ENSP00000386080:S967C;ENSP00000408714:S817C;ENSP00000378290:S55C;ENSP00000407368:S149C	ENSP00000345216:S967C	S	-	2	0	USP54	74947290	1.000000	0.71417	0.971000	0.41717	0.933000	0.57130	4.053000	0.57427	1.551000	0.49450	0.655000	0.94253	TCT	USP54	-	NULL		0.502	USP54-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	USP54	HGNC	protein_coding	OTTHUMT00000316563.2	G	NM_152586		75277284	-1	no_errors	ENST00000339859	ensembl	human	known	70_37	missense	SNP	0.981	C
USP8	9101	genome.wustl.edu	37	15	50751336	50751336	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:50751336G>C	ENST00000396444.3	+	5	813	c.475G>C	c.(475-477)Gat>Cat	p.D159H	USP8_ENST00000425032.3_Missense_Mutation_p.D82H|USP8_ENST00000433963.1_Missense_Mutation_p.D159H|USP8_ENST00000307179.4_Missense_Mutation_p.D159H	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	159					cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		GAATGTTTTGGATTCCAAAGA	0.403																																																	0													83.0	85.0	84.0					15																	50751336		2196	4294	6490	SO:0001583	missense	9101			D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.475G>C	15.37:g.50751336G>C	ENSP00000379721:p.Asp159His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Missense_Mutation	SNP	pfam_Peptidase_C19,pfam_DUF1873,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_WW_Rsp5_WWP,pfscan_Rhodanese-like_dom,pfscan_Peptidase_C19	p.D159H	ENST00000396444.3	37	c.475	CCDS10137.1	15	.	.	.	.	.	.	.	.	.	.	G	22.9	4.354790	0.82243	.	.	ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032	T;T;T;T	0.23552	2.09;2.09;2.09;1.9	5.98	5.98	0.97165	.	0.508622	0.22545	N	0.058673	T	0.34861	0.0912	L	0.27053	0.805	0.47245	D	0.999363	D;D	0.64830	0.994;0.994	P;P	0.57371	0.819;0.819	T	0.01345	-1.1379	10	0.39692	T	0.17	-16.4689	18.2312	0.89936	0.0:0.0:1.0:0.0	.	82;159	B4DKA8;P40818	.;UBP8_HUMAN	H	159;159;159;82	ENSP00000379721:D159H;ENSP00000405537:D159H;ENSP00000302239:D159H;ENSP00000412682:D82H	ENSP00000302239:D159H	D	+	1	0	USP8	48538628	1.000000	0.71417	0.985000	0.45067	0.938000	0.57974	6.287000	0.72671	2.835000	0.97688	0.650000	0.86243	GAT	USP8	-	NULL		0.403	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP8	HGNC	protein_coding	OTTHUMT00000254541.1	G	NM_005154		50751336	+1	no_errors	ENST00000307179	ensembl	human	known	70_37	missense	SNP	0.993	C
UTP20	27340	genome.wustl.edu	37	12	101684594	101684594	+	Silent	SNP	C	C	G	rs148951374		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:101684594C>G	ENST00000261637.4	+	8	993	c.819C>G	c.(817-819)ctC>ctG	p.L273L		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	273					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000480)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000447)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA) (GO:0000472)|negative regulation of cell proliferation (GO:0008285)|rRNA processing (GO:0006364)	90S preribosome (GO:0030686)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|preribosome, small subunit precursor (GO:0030688)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GAGAAACACTCAAAAACATGG	0.383																																																	0													158.0	142.0	147.0					12																	101684594		2203	4300	6503	SO:0001819	synonymous_variant	27340			AJ006778	CCDS9081.1	12q23	2006-02-11				ENSG00000120800			17897	protein-coding gene	gene with protein product	"""down regulated in metastasis"""	612822				9673349, 15590835, 12837249	Standard	NM_014503		Approved	DRIM	uc001tia.1	O75691	OTTHUMG00000170270	ENST00000261637.4:c.819C>G	12.37:g.101684594C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3H4	Silent	SNP	pfam_DRIM,superfamily_ARM-type_fold	p.L273	ENST00000261637.4	37	c.819	CCDS9081.1	12																																																																																			UTP20	-	superfamily_ARM-type_fold		0.383	UTP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTP20	HGNC	protein_coding	OTTHUMT00000408242.1	C	NM_014503		101684594	+1	no_errors	ENST00000261637	ensembl	human	known	70_37	silent	SNP	0.356	G
UTRN	7402	genome.wustl.edu	37	6	144783982	144783982	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:144783982C>T	ENST00000367545.3	+	22	3046	c.3046C>T	c.(3046-3048)Ctc>Ttc	p.L1016F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1016					aging (GO:0007568)|muscle cell differentiation (GO:0042692)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|neuron projection morphogenesis (GO:0048812)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of sodium ion transmembrane transporter activity (GO:2000649)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane (GO:0016020)|membrane raft (GO:0045121)|myofibril (GO:0030016)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|protein kinase binding (GO:0019901)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GGAAATTGCTCTCACACTCAG	0.343																																																	0													84.0	95.0	91.0					6																	144783982		2203	4300	6503	SO:0001583	missense	7402			AK023675	CCDS34547.1	6q24	2008-02-05	2006-12-13		ENSG00000152818	ENSG00000152818			12635	protein-coding gene	gene with protein product		128240	"""utrophin (homologous to dystrophin)"""	DMDL		1426262	Standard	NM_007124		Approved	DRP, DRP1	uc003qkt.3	P46939	OTTHUMG00000015746	ENST00000367545.3:c.3046C>T	6.37:g.144783982C>T	ENSP00000356515:p.Leu1016Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYY1|Q5SZ57|Q9UJ40	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.L1016F	ENST00000367545.3	37	c.3046	CCDS34547.1	6	.	.	.	.	.	.	.	.	.	.	C	10.36	1.328750	0.24167	.	.	ENSG00000152818	ENST00000367529;ENST00000367545	T	0.60040	0.22	5.47	2.2	0.27929	.	0.547984	0.16610	N	0.206942	T	0.21186	0.0510	N	0.08118	0	0.44956	D	0.997972	B	0.33477	0.413	B	0.36504	0.226	T	0.08249	-1.0731	10	0.54805	T	0.06	.	9.8659	0.41142	0.0:0.5678:0.0:0.4322	.	1016	P46939	UTRO_HUMAN	F	1016	ENSP00000356515:L1016F	ENSP00000356499:L1016F	L	+	1	0	UTRN	144825675	0.095000	0.21747	0.188000	0.23233	0.552000	0.35366	0.245000	0.18142	0.109000	0.17891	0.655000	0.94253	CTC	UTRN	-	pirsf_Dystrophin/utrophin		0.343	UTRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTRN	HGNC	protein_coding	OTTHUMT00000042551.1	C			144783982	+1	no_errors	ENST00000367545	ensembl	human	known	70_37	missense	SNP	0.095	T
VILL	50853	genome.wustl.edu	37	3	38047732	38047732	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38047732G>A	ENST00000283713.6	+	18	2460	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K	VILL_ENST00000465644.1_Missense_Mutation_p.E450K|VILL_ENST00000383759.2_Missense_Mutation_p.E732K			O15195	VILL_HUMAN	villin-like	732					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACCATCTCTGAGATAACAGC	0.627																																																	0													74.0	82.0	79.0					3																	38047732		2203	4300	6503	SO:0001583	missense	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2194G>A	3.37:g.38047732G>A	ENSP00000283713:p.Glu732Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZP1|Q9BT80|Q9BWH7	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.E732K	ENST00000283713.6	37	c.2194	CCDS2670.2	3	.	.	.	.	.	.	.	.	.	.	G	14.52	2.559721	0.45590	.	.	ENSG00000136059	ENST00000283713;ENST00000383759;ENST00000356246;ENST00000465644	T;T;T	0.13901	2.64;2.64;2.55	3.56	2.62	0.31277	.	0.784016	0.12040	N	0.505138	T	0.13200	0.0320	L	0.55103	1.725	0.35425	D	0.793551	B	0.09022	0.002	B	0.10450	0.005	T	0.08764	-1.0706	10	0.25751	T	0.34	-16.5941	7.5437	0.27753	0.1349:0.0:0.8651:0.0	.	732	O15195	VILL_HUMAN	K	732;732;718;450	ENSP00000283713:E732K;ENSP00000373266:E732K;ENSP00000422096:E450K	ENSP00000283713:E732K	E	+	1	0	VILL	38022736	0.001000	0.12720	0.029000	0.17559	0.280000	0.26924	0.641000	0.24720	0.811000	0.34303	0.462000	0.41574	GAG	VILL	-	NULL		0.627	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	G	NM_015873		38047732	+1	no_errors	ENST00000283713	ensembl	human	known	70_37	missense	SNP	0.953	A
VILL	50853	genome.wustl.edu	37	3	38047734	38047734	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:38047734G>A	ENST00000283713.6	+	18	2462	c.2196G>A	c.(2194-2196)gaG>gaA	p.E732E	VILL_ENST00000465644.1_Silent_p.E450E|VILL_ENST00000383759.2_Silent_p.E732E			O15195	VILL_HUMAN	villin-like	732					actin filament capping (GO:0051693)|cytoskeleton organization (GO:0007010)	actin cytoskeleton (GO:0015629)	structural constituent of cytoskeleton (GO:0005200)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCATCTCTGAGATAACAGCAG	0.622																																																	0													73.0	81.0	78.0					3																	38047734		2203	4300	6503	SO:0001819	synonymous_variant	50853				CCDS2670.2	3p21	2004-07-28			ENSG00000136059	ENSG00000136059			30906	protein-coding gene	gene with protein product						9179494	Standard	XM_005265191		Approved		uc003chl.3	O15195	OTTHUMG00000130814	ENST00000283713.6:c.2196G>A	3.37:g.38047734G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZP1|Q9BT80|Q9BWH7	Silent	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.E732	ENST00000283713.6	37	c.2196	CCDS2670.2	3																																																																																			VILL	-	NULL		0.622	VILL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VILL	HGNC	protein_coding	OTTHUMT00000253360.3	G	NM_015873		38047734	+1	no_errors	ENST00000283713	ensembl	human	known	70_37	silent	SNP	0.934	A
VIPAS39	63894	genome.wustl.edu	37	14	77893965	77893965	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:77893965C>T	ENST00000553888.1	-	20	1986	c.1476G>A	c.(1474-1476)aaG>aaA	p.K492K	VIPAS39_ENST00000343765.2_Silent_p.K492K|VIPAS39_ENST00000556412.1_Silent_p.K518K|VIPAS39_ENST00000557658.1_Silent_p.K492K|VIPAS39_ENST00000327028.4_Silent_p.K479K|VIPAS39_ENST00000448935.2_Silent_p.K443K	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	492					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											CCACTTAATTCTTCCATCGAA	0.453																																																	0													133.0	109.0	117.0					14																	77893965		2203	4300	6503	SO:0001819	synonymous_variant	63894			AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.1476G>A	14.37:g.77893965C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPI6|O95434|Q9H7E1|Q9H9I9	Silent	SNP	pfam_Golgin_subfamily_A_member_5	p.K492	ENST00000553888.1	37	c.1476	CCDS9862.1	14																																																																																			VIPAS39	-	NULL		0.453	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VIPAS39	HGNC	protein_coding	OTTHUMT00000414008.1	C	NM_022067		77893965	-1	no_errors	ENST00000343765	ensembl	human	known	70_37	silent	SNP	1.000	T
VLDLR	7436	genome.wustl.edu	37	9	2643666	2643666	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:2643666G>C	ENST00000382100.3	+	6	1215	c.859G>C	c.(859-861)Gat>Cat	p.D287H	VLDLR_ENST00000382099.2_Missense_Mutation_p.D287H|RP11-125B21.2_ENST00000599229.1_RNA	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor	287	LDL-receptor class A 7. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cholesterol metabolic process (GO:0008203)|glycoprotein transport (GO:0034436)|lipid transport (GO:0006869)|memory (GO:0007613)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|positive regulation of dendrite development (GO:1900006)|positive regulation of protein kinase activity (GO:0045860)|receptor-mediated endocytosis (GO:0006898)|reelin-mediated signaling pathway (GO:0038026)|signal transduction (GO:0007165)|ventral spinal cord development (GO:0021517)|very-low-density lipoprotein particle clearance (GO:0034447)	coated pit (GO:0005905)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|very-low-density lipoprotein particle (GO:0034361)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|glycoprotein binding (GO:0001948)|glycoprotein transporter activity (GO:0034437)|low-density lipoprotein receptor activity (GO:0005041)|reelin receptor activity (GO:0038025)|very-low-density lipoprotein particle binding (GO:0034189)|very-low-density lipoprotein particle receptor activity (GO:0030229)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TGAATGTGAGGATGGCAGCTG	0.483																																																	0													143.0	116.0	125.0					9																	2643666		2203	4300	6503	SO:0001583	missense	7436				CCDS6446.1, CCDS34979.1	9p24	2014-01-24			ENSG00000147852	ENSG00000147852		"""Low density lipoprotein receptors"""	12698	protein-coding gene	gene with protein product		192977				8294473	Standard	XM_006716864		Approved	CARMQ1, CHRMQ1, VLDLRCH	uc003zhk.1	P98155	OTTHUMG00000019447	ENST00000382100.3:c.859G>C	9.37:g.2643666G>C	ENSP00000371532:p.Asp287His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMZ7|D3DRH6|Q5VVF6	Missense_Mutation	SNP	pfam_LDrepeatLR_classA_rpt,pfam_LDLR_classB_rpt,pfam_EGF-like_Ca-bd,superfamily_LDrepeatLR_classA_rpt,superfamily_Growth_fac_rcpt,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_LDLR_classB_rpt,pfscan_EG-like_dom,pfscan_LDrepeatLR_classA_rpt,pfscan_LDLR_classB_rpt	p.D287H	ENST00000382100.3	37	c.859	CCDS6446.1	9	.	.	.	.	.	.	.	.	.	.	G	22.9	4.350586	0.82132	.	.	ENSG00000147852	ENST00000382100;ENST00000382099;ENST00000382092	D;D	0.91945	-2.94;-2.94	5.83	4.93	0.64822	.	0.000000	0.56097	D	0.000040	D	0.96386	0.8821	M	0.88640	2.97	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.994	D;D;D	0.83275	0.992;0.996;0.991	D	0.96623	0.9461	10	0.87932	D	0	.	14.3418	0.66633	0.0705:0.0:0.9295:0.0	.	287;287;287	P98155-2;Q5VVF5;P98155	.;.;VLDLR_HUMAN	H	287;287;166	ENSP00000371532:D287H;ENSP00000371531:D287H	ENSP00000371524:D166H	D	+	1	0	VLDLR	2633666	1.000000	0.71417	0.998000	0.56505	0.908000	0.53690	5.811000	0.69187	2.756000	0.94617	0.655000	0.94253	GAT	VLDLR	-	pfam_LDrepeatLR_classA_rpt,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,pfscan_LDrepeatLR_classA_rpt		0.483	VLDLR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VLDLR	HGNC	protein_coding	OTTHUMT00000051519.2	G	NM_003383		2643666	+1	no_errors	ENST00000382100	ensembl	human	known	70_37	missense	SNP	1.000	C
VMP1	81671	genome.wustl.edu	37	17	57851201	57851201	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:57851201G>C	ENST00000262291.4	+	7	979	c.669G>C	c.(667-669)gaG>gaC	p.E223D	VMP1_ENST00000537567.1_Missense_Mutation_p.E89D|VMP1_ENST00000545362.1_Missense_Mutation_p.E167D|VMP1_ENST00000536180.1_Missense_Mutation_p.E126D|VMP1_ENST00000539763.1_Missense_Mutation_p.E31D	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1	223					autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						ATGATGAAGAGTATCAGGAAT	0.458																																																	0													83.0	80.0	81.0					17																	57851201		2203	4300	6503	SO:0001583	missense	81671				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.669G>C	17.37:g.57851201G>C	ENSP00000262291:p.Glu223Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVV9|Q9H0P4|Q9P089	Missense_Mutation	SNP	NULL	p.E223D	ENST00000262291.4	37	c.669	CCDS11619.1	17	.	.	.	.	.	.	.	.	.	.	G	13.81	2.348433	0.41599	.	.	ENSG00000062716	ENST00000262291;ENST00000537567;ENST00000539763;ENST00000536180;ENST00000545362	T;T;T	0.45668	0.89;0.89;0.89	5.93	-3.89	0.04193	.	0.094278	0.64402	N	0.000001	T	0.15003	0.0362	N	0.04373	-0.215	0.53005	D	0.999969	B;B;B;B	0.16396	0.017;0.003;0.007;0.003	B;B;B;B	0.23275	0.045;0.007;0.015;0.012	T	0.08868	-1.0701	10	0.17832	T	0.49	-2.0162	7.3514	0.26693	0.4709:0.1991:0.3299:0.0	.	89;126;167;223	B4DED7;B4DGZ7;F5H2J3;Q96GC9	.;.;.;VMP1_HUMAN	D	223;89;31;126;167	ENSP00000262291:E223D;ENSP00000445130:E89D;ENSP00000444969:E126D	ENSP00000262291:E223D	E	+	3	2	VMP1	55205983	0.351000	0.24887	0.953000	0.39169	0.995000	0.86356	-0.206000	0.09398	-0.614000	0.05687	0.563000	0.77884	GAG	VMP1	-	NULL		0.458	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	G	NM_030938		57851201	+1	no_errors	ENST00000262291	ensembl	human	known	70_37	missense	SNP	0.794	C
VPS13A	23230	genome.wustl.edu	37	9	79825580	79825580	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:79825580C>G	ENST00000360280.3	+	7	804	c.544C>G	c.(544-546)Ctg>Gtg	p.L182V	VPS13A_ENST00000376636.3_Missense_Mutation_p.L182V|VPS13A_ENST00000357409.5_Missense_Mutation_p.L182V|VPS13A_ENST00000376634.4_Missense_Mutation_p.L182V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	182					cell death (GO:0008219)|Golgi to endosome transport (GO:0006895)|locomotory behavior (GO:0007626)|nervous system development (GO:0007399)|protein localization (GO:0008104)|protein transport (GO:0015031)|social behavior (GO:0035176)	dense core granule (GO:0031045)|intracellular (GO:0005622)				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCTTCAAAATCTGAGCATGCA	0.303																																																	0													71.0	76.0	75.0					9																	79825580		2203	4300	6503	SO:0001583	missense	23230			AB023203	CCDS6655.1, CCDS6656.1, CCDS47983.1, CCDS55321.1	9q21	2014-01-30	2006-04-04	2004-02-11	ENSG00000197969	ENSG00000197969			1908	protein-coding gene	gene with protein product	"""chorein"""	605978	"""chorea acanthocytosis"", ""vacuolar protein sorting 13A (yeast)"""	CHAC		9382101, 11381253	Standard	NM_001018038		Approved	KIAA0986	uc004akr.3	Q96RL7	OTTHUMG00000020055	ENST00000360280.3:c.544C>G	9.37:g.79825580C>G	ENSP00000353422:p.Leu182Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSX9|Q5JSY0|Q5VYR5|Q702P4|Q709D0|Q86YF8|Q96S61|Q9H995|Q9Y2J1	Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.L182V	ENST00000360280.3	37	c.544	CCDS6655.1	9	.	.	.	.	.	.	.	.	.	.	C	14.53	2.562249	0.45694	.	.	ENSG00000197969	ENST00000376634;ENST00000376636;ENST00000360280;ENST00000357409	T;T;T;T	0.57907	0.53;0.37;0.44;0.53	5.2	3.33	0.38152	.	0.207175	0.42172	D	0.000743	T	0.53674	0.1811	M	0.90425	3.115	0.80722	D	1	B;B;B;B	0.33612	0.042;0.19;0.419;0.288	B;B;B;B	0.29716	0.065;0.049;0.106;0.106	T	0.52571	-0.8558	10	0.39692	T	0.17	.	6.7222	0.23336	0.133:0.6678:0.1284:0.0708	.	182;182;182;182	Q96RL7-3;Q96RL7;Q96RL7-2;Q96RL7-4	.;VP13A_HUMAN;.;.	V	182	ENSP00000365821:L182V;ENSP00000365823:L182V;ENSP00000353422:L182V;ENSP00000349985:L182V	ENSP00000349985:L182V	L	+	1	2	VPS13A	79015400	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.364000	0.34171	0.660000	0.30964	0.655000	0.94253	CTG	VPS13A	-	NULL		0.303	VPS13A-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13A	HGNC	protein_coding	OTTHUMT00000052753.2	C	NM_015186		79825580	+1	no_errors	ENST00000360280	ensembl	human	known	70_37	missense	SNP	1.000	G
VPS13B	157680	genome.wustl.edu	37	8	100108604	100108604	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:100108604C>G	ENST00000358544.2	+	4	467	c.356C>G	c.(355-357)tCa>tGa	p.S119*	CTD-2340D6.2_ENST00000520844.1_RNA|VPS13B_ENST00000395996.1_Nonsense_Mutation_p.S119*|VPS13B_ENST00000441350.2_Nonsense_Mutation_p.S119*|VPS13B_ENST00000355155.1_Nonsense_Mutation_p.S119*|VPS13B_ENST00000357162.2_Nonsense_Mutation_p.S119*	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	119					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAAATCATCAATCAAACCG	0.388																																					Colon(161;2205 2542 7338 31318)												0													88.0	85.0	86.0					8																	100108604		2203	4300	6503	SO:0001587	stop_gained	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.356C>G	8.37:g.100108604C>G	ENSP00000351346:p.Ser119*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Nonsense_Mutation	SNP	pfam_Autophagy-rel_C	p.S119*	ENST00000358544.2	37	c.356	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	C	27.6	4.849056	0.91277	.	.	ENSG00000132549	ENST00000355155;ENST00000357162;ENST00000358544;ENST00000395996;ENST00000441350	.	.	.	5.87	5.87	0.94306	.	0.327551	0.26991	N	0.021477	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.23302	T	0.38	.	20.1991	0.98252	0.0:1.0:0.0:0.0	.	.	.	.	X	119	.	ENSP00000347281:S119X	S	+	2	0	VPS13B	100177780	1.000000	0.71417	0.974000	0.42286	0.882000	0.50991	2.848000	0.48278	2.775000	0.95449	0.650000	0.86243	TCA	VPS13B	-	NULL		0.388	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	C	NM_184042		100108604	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	nonsense	SNP	1.000	G
VPS13B	157680	genome.wustl.edu	37	8	100711817	100711817	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:100711817G>C	ENST00000358544.2	+	36	6297	c.6186G>C	c.(6184-6186)caG>caC	p.Q2062H	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2037H	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2062					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AACTGGATCAGATAAACCTTT	0.353																																					Colon(161;2205 2542 7338 31318)												0													54.0	58.0	57.0					8																	100711817		2203	4299	6502	SO:0001583	missense	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.6186G>C	8.37:g.100711817G>C	ENSP00000351346:p.Gln2062His	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	pfam_Autophagy-rel_C	p.Q2062H	ENST00000358544.2	37	c.6186	CCDS6280.1	8	.	.	.	.	.	.	.	.	.	.	G	16.04	3.010195	0.54361	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.74632	-0.86;-0.86	5.58	1.1	0.20463	.	0.000000	0.85682	D	0.000000	T	0.78419	0.4280	L	0.46157	1.445	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.85130	0.997;0.993	T	0.75969	-0.3130	10	0.72032	D	0.01	.	8.1578	0.31180	0.5885:0.0:0.4115:0.0	.	2037;2062	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	H	2037;2062	ENSP00000349685:Q2037H;ENSP00000351346:Q2062H	ENSP00000349685:Q2037H	Q	+	3	2	VPS13B	100780993	1.000000	0.71417	0.998000	0.56505	0.811000	0.45836	1.808000	0.38912	0.268000	0.21939	0.655000	0.94253	CAG	VPS13B	-	NULL		0.353	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100711817	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	missense	SNP	0.996	C
VPS13C	54832	genome.wustl.edu	37	15	62253889	62253889	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:62253889G>C	ENST00000261517.5	-	35	3880	c.3807C>G	c.(3805-3807)atC>atG	p.I1269M	VPS13C_ENST00000395898.3_Missense_Mutation_p.I1226M|VPS13C_ENST00000395896.4_Missense_Mutation_p.I1269M|VPS13C_ENST00000249837.3_Missense_Mutation_p.I1226M	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TATGAACTCTGATTAACCCAA	0.378																																																	0													109.0	107.0	108.0					15																	62253889		2203	4300	6503	SO:0001583	missense	54832			AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3807C>G	15.37:g.62253889G>C	ENSP00000261517:p.Ile1269Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_Autophagy-rel_C	p.I1269M	ENST00000261517.5	37	c.3807	CCDS32257.1	15	.	.	.	.	.	.	.	.	.	.	G	12.98	2.099132	0.37048	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.15603	2.41;2.41;2.41	5.76	3.87	0.44632	.	0.068138	0.56097	D	0.000036	T	0.26231	0.0640	M	0.85710	2.77	0.50171	D	0.999856	B;B;B;B	0.22414	0.069;0.069;0.019;0.041	B;B;B;B	0.29942	0.109;0.089;0.059;0.051	T	0.05053	-1.0909	10	0.72032	D	0.01	.	8.3478	0.32284	0.3234:0.0:0.6766:0.0	.	1226;1269;1226;1269	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	M	1226;1269;1269;1269	ENSP00000249837:I1226M;ENSP00000261517:I1269M;ENSP00000379233:I1269M	ENSP00000249837:I1226M	I	-	3	3	VPS13C	60041181	1.000000	0.71417	0.973000	0.42090	0.991000	0.79684	0.788000	0.26872	0.753000	0.32945	0.563000	0.77884	ATC	VPS13C	-	NULL		0.378	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13C	HGNC	protein_coding	OTTHUMT00000415997.1	G	NM_017684		62253889	-1	no_errors	ENST00000261517	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS13D	55187	genome.wustl.edu	37	1	12304470	12304470	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12304470C>A	ENST00000358136.3	+	4	473	c.343C>A	c.(343-345)Caa>Aaa	p.Q115K	VPS13D_ENST00000356315.4_Missense_Mutation_p.Q115K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGCACTACTTCAAGCCCTGGA	0.458																																																	0													121.0	112.0	115.0					1																	12304470		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.343C>A	1.37:g.12304470C>A	ENSP00000350854:p.Gln115Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.Q115K	ENST00000358136.3	37	c.343	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	C	13.12	2.142420	0.37825	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	D;D	0.81659	-1.52;-1.52	5.87	4.96	0.65561	.	0.294724	0.35805	N	0.002965	T	0.51312	0.1667	N	0.01352	-0.895	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.001;0.002	T	0.52609	-0.8553	10	0.07644	T	0.81	.	11.2393	0.48960	0.1282:0.6019:0.2699:0.0	.	115;115	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	115	ENSP00000348666:Q115K;ENSP00000350854:Q115K	ENSP00000348666:Q115K	Q	+	1	0	VPS13D	12227057	1.000000	0.71417	0.967000	0.41034	0.981000	0.71138	2.087000	0.41653	1.612000	0.50221	0.655000	0.94253	CAA	VPS13D	-	NULL		0.458	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	C	NM_015378		12304470	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	0.936	A
VPS13D	55187	genome.wustl.edu	37	1	12337696	12337696	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12337696G>A	ENST00000358136.3	+	19	4181	c.4051G>A	c.(4051-4053)Gaa>Aaa	p.E1351K	VPS13D_ENST00000356315.4_Missense_Mutation_p.E1351K	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGACTCGGGAACCCTTTAT	0.433																																																	0													73.0	75.0	74.0					1																	12337696		2203	4300	6503	SO:0001583	missense	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.4051G>A	1.37:g.12337696G>A	ENSP00000350854:p.Glu1351Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.E1351K	ENST00000358136.3	37	c.4051	CCDS30588.1	1	.	.	.	.	.	.	.	.	.	.	G	9.804	1.181345	0.21787	.	.	ENSG00000048707	ENST00000356315;ENST00000358136	T;T	0.50548	0.74;0.74	5.91	5.91	0.95273	.	0.360607	0.29737	N	0.011329	T	0.29524	0.0736	N	0.08118	0	0.80722	D	1	B;B	0.15141	0.001;0.012	B;B	0.15870	0.001;0.014	T	0.22138	-1.0225	10	0.06757	T	0.87	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	1351;1351	Q5THJ4-2;Q5THJ4	.;VP13D_HUMAN	K	1351	ENSP00000348666:E1351K;ENSP00000350854:E1351K	ENSP00000348666:E1351K	E	+	1	0	VPS13D	12260283	1.000000	0.71417	0.933000	0.37362	0.931000	0.56810	4.584000	0.60971	2.793000	0.96121	0.655000	0.94253	GAA	VPS13D	-	NULL		0.433	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	G	NM_015378		12337696	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	missense	SNP	1.000	A
VPS13D	55187	genome.wustl.edu	37	1	12414078	12414078	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:12414078C>A	ENST00000358136.3	+	47	9609	c.9479C>A	c.(9478-9480)tCa>tAa	p.S3160*	VPS13D_ENST00000356315.4_Nonsense_Mutation_p.S3135*	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TATATGCCCTCAAACATATTT	0.358																																																	0													88.0	82.0	84.0					1																	12414078		2203	4300	6503	SO:0001587	stop_gained	55187			AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.9479C>A	1.37:g.12414078C>A	ENSP00000350854:p.Ser3160*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_VPSAP,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk	p.S3160*	ENST00000358136.3	37	c.9479	CCDS30588.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	52|52	18.758060|18.758060	0.99910|0.99910	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000011700|ENST00000356315;ENST00000358136	.|.	.|.	.|.	5.86|5.86	5.86|5.86	0.93980|0.93980	.|.	.|0.058828	.|0.64402	.|D	.|0.000002	T|.	0.77075|.	0.4077|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.73575|.	-0.3939|.	4|.	.|.	.|.	.|.	.|.	20.5632|20.5632	0.99335|0.99335	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|.	.|.	.|.	K|X	1982|3135;3160	.|.	.|.	Q|S	+|+	1|2	0|0	VPS13D|VPS13D	12336665|12336665	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.445000|7.445000	0.80570|0.80570	2.937000|2.937000	0.99478|0.99478	0.650000|0.650000	0.86243|0.86243	CAA|TCA	VPS13D	-	NULL		0.358	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13D	HGNC	protein_coding	OTTHUMT00000036897.2	C	NM_015378		12414078	+1	no_errors	ENST00000358136	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WBP2NL	164684	genome.wustl.edu	37	22	42394815	42394815	+	5'UTR	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr22:42394815G>C	ENST00000328823.9	+	0	24				WBP2NL_ENST00000461730.1_3'UTR	NM_152613.2	NP_689826.2	Q6ICG8	WBP2L_HUMAN	WBP2 N-terminal like						egg activation (GO:0007343)|male pronucleus assembly (GO:0035039)|meiotic nuclear division (GO:0007126)	perinuclear theca (GO:0033011)	WW domain binding (GO:0050699)			breast(2)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)	14						CAGGAGGCCCGAAGCAAGATG	0.657																																																	0													34.0	33.0	34.0					22																	42394815		2202	4300	6502	SO:0001623	5_prime_UTR_variant	164684			BC022546	CCDS14029.1	22q13.2	2007-07-18			ENSG00000183066	ENSG00000183066			28389	protein-coding gene	gene with protein product	"""postacrosomal sheath WW domain-binding protein"""	610981				17289678	Standard	NM_152613		Approved	FLJ26145, MGC26816, PAWP	uc003bbt.3	Q6ICG8	OTTHUMG00000151270	ENST00000328823.9:c.-8G>C	22.37:g.42394815G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KFF7|A8MSG5|B3KXX4|Q8TBF0|Q8TBF3	RNA	SNP	-	NULL	ENST00000328823.9	37	NULL	CCDS14029.1	22																																																																																			WBP2NL	-	-		0.657	WBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBP2NL	HGNC	protein_coding	OTTHUMT00000322037.1	G	NM_152613		42394815	+1	no_errors	ENST00000461730	ensembl	human	known	70_37	rna	SNP	0.000	C
WBSCR17	64409	genome.wustl.edu	37	7	71130461	71130461	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:71130461G>C	ENST00000333538.5	+	7	1780	c.1146G>C	c.(1144-1146)aaG>aaC	p.K382N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	382					protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGAGCGGAAGAAGAAGCCAT	0.493																																																	0													112.0	103.0	106.0					7																	71130461		2203	4300	6503	SO:0001583	missense	64409			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1146G>C	7.37:g.71130461G>C	ENSP00000329654:p.Lys382Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFV9|Q9NTA8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.K382N	ENST00000333538.5	37	c.1146	CCDS5540.1	7	.	.	.	.	.	.	.	.	.	.	G	11.53	1.666255	0.29604	.	.	ENSG00000185274	ENST00000333538	T	0.59502	0.26	5.85	5.85	0.93711	.	0.162322	0.53938	D	0.000053	T	0.47710	0.1460	N	0.21508	0.67	0.41370	D	0.987481	B	0.25609	0.13	B	0.30716	0.119	T	0.46400	-0.9194	10	0.54805	T	0.06	.	14.7207	0.69302	0.0:0.1444:0.8556:0.0	.	382	Q6IS24	GLTL3_HUMAN	N	382	ENSP00000329654:K382N	ENSP00000329654:K382N	K	+	3	2	WBSCR17	70768397	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	2.582000	0.46085	2.770000	0.95276	0.563000	0.77884	AAG	WBSCR17	-	NULL		0.493	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	G	NM_022479		71130461	+1	no_errors	ENST00000333538	ensembl	human	known	70_37	missense	SNP	1.000	C
WDFY3	23001	genome.wustl.edu	37	4	85664936	85664936	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr4:85664936G>C	ENST00000295888.4	-	37	6397	c.5990C>G	c.(5989-5991)tCt>tGt	p.S1997C	WDFY3_ENST00000322366.6_Missense_Mutation_p.S1997C	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1997					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGTTCTTGTAGACCTTTCAGG	0.323																																																	0													78.0	78.0	78.0					4																	85664936		2203	4300	6503	SO:0001583	missense	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.5990C>G	4.37:g.85664936G>C	ENSP00000295888:p.Ser1997Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1997C	ENST00000295888.4	37	c.5990	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	G	16.57	3.161314	0.57368	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64438	-0.1;-0.1	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.55242	0.1908	L	0.36672	1.1	0.80722	D	1	B	0.27700	0.186	B	0.21151	0.033	T	0.54563	-0.8275	10	0.54805	T	0.06	.	19.4376	0.94804	0.0:0.0:1.0:0.0	.	1997	Q8IZQ1	WDFY3_HUMAN	C	1997	ENSP00000318466:S1997C;ENSP00000295888:S1997C	ENSP00000295888:S1997C	S	-	2	0	WDFY3	85883960	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.094000	0.94168	2.660000	0.90430	0.467000	0.42956	TCT	WDFY3	-	NULL		0.323	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	G	NM_014991		85664936	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	missense	SNP	1.000	C
WDR27	253769	genome.wustl.edu	37	6	170033055	170033055	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:170033055G>C	ENST00000448612.1	-	21	2320	c.2211C>G	c.(2209-2211)atC>atG	p.I737M	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000333572.6_Missense_Mutation_p.I737M|WDR27_ENST00000423258.1_Missense_Mutation_p.I610M	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	707						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TATTTTGGCAGATTTGATGGA	0.448																																																	0													80.0	81.0	81.0					6																	170033055		1919	4123	6042	SO:0001583	missense	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.2211C>G	6.37:g.170033055G>C	ENSP00000416289:p.Ile737Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I737M	ENST00000448612.1	37	c.2211	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	G	13.02	2.113148	0.37339	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;T	0.42900	4.81;0.96;4.81	5.04	-5.3	0.02738	.	0.000000	0.85682	D	0.000000	T	0.30759	0.0775	M	0.85373	2.75	0.80722	D	1	B;B;P	0.41848	0.361;0.383;0.763	B;B;B	0.40444	0.072;0.151;0.329	T	0.52495	-0.8568	10	0.87932	D	0	-25.1801	14.2354	0.65922	0.5806:0.0:0.4194:0.0	.	737;610;737	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	M	737;737;610	ENSP00000416289:I737M;ENSP00000330265:I737M;ENSP00000397869:I610M	ENSP00000330265:I737M	I	-	3	3	WDR27	169774980	0.880000	0.30214	0.631000	0.29282	0.990000	0.78478	-0.476000	0.06591	-1.296000	0.02353	-0.142000	0.14014	ATC	WDR27	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.448	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	G	NM_182552		170033055	-1	no_errors	ENST00000448612	ensembl	human	known	70_37	missense	SNP	0.832	C
WDR37	22884	genome.wustl.edu	37	10	1139409	1139409	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:1139409C>T	ENST00000358220.1	+	8	766	c.622C>T	c.(622-624)Cat>Tat	p.H208Y	WDR37_ENST00000381329.1_Missense_Mutation_p.H208Y|WDR37_ENST00000263150.4_Missense_Mutation_p.H208Y			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	208										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		TATCAAATTTCATCCCTCAGA	0.274																																																	0													78.0	79.0	79.0					10																	1139409		2202	4295	6497	SO:0001583	missense	22884			AB023199	CCDS7057.1	10p15.3	2013-01-09			ENSG00000047056	ENSG00000047056		"""WD repeat domain containing"""	31406	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_014023		Approved	KIAA0982	uc001igf.1	Q9Y2I8	OTTHUMG00000017540	ENST00000358220.1:c.622C>T	10.37:g.1139409C>T	ENSP00000350954:p.His208Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K976|D3DRQ7|Q5SW03|Q8WVG2|Q9NTJ6	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.H208Y	ENST00000358220.1	37	c.622	CCDS7057.1	10	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742209	0.89573	.	.	ENSG00000047056	ENST00000358220;ENST00000381329;ENST00000263150;ENST00000436154	T;T;T;T	0.61510	0.1;0.1;0.1;0.1	5.53	5.53	0.82687	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.046889	0.85682	D	0.000000	T	0.73705	0.3621	L	0.56280	1.765	0.80722	D	1	D;D;D	0.89917	0.991;0.999;1.0	D;D;D	0.91635	0.988;0.996;0.999	T	0.75096	-0.3438	10	0.72032	D	0.01	-13.2851	19.0452	0.93016	0.0:1.0:0.0:0.0	.	208;208;208	A8K976;Q9Y2I8;E7EQ49	.;WDR37_HUMAN;.	Y	208;208;208;175	ENSP00000350954:H208Y;ENSP00000370730:H208Y;ENSP00000263150:H208Y;ENSP00000404346:H175Y	ENSP00000263150:H208Y	H	+	1	0	WDR37	1129409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.418000	0.80167	2.608000	0.88229	0.650000	0.86243	CAT	WDR37	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.274	WDR37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR37	HGNC	protein_coding	OTTHUMT00000046418.1	C	NM_014023		1139409	+1	no_errors	ENST00000263150	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR43	23160	genome.wustl.edu	37	2	29152532	29152532	+	Missense_Mutation	SNP	C	C	T	rs371667538		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:29152532C>T	ENST00000407426.3	+	11	1449	c.1393C>T	c.(1393-1395)Ctt>Ttt	p.L465F	SNORD53_SNORD92_ENST00000577887.1_RNA|Y_RNA_ENST00000410292.1_RNA|SNORD53_ENST00000579969.1_RNA	NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	465						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					CTTTCCAGTTCTTCTTACCCA	0.343																																																	0								C	PHE/LEU	1,3659		0,1,1829	103.0	102.0	102.0		1393	4.9	1.0	2		102	0,8190		0,0,4095	no	missense	WDR43	NM_015131.1	22	0,1,5924	TT,TC,CC		0.0,0.0273,0.0084	probably-damaging	465/678	29152532	1,11849	1830	4095	5925	SO:0001583	missense	23160			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1393C>T	2.37:g.29152532C>T	ENSP00000384302:p.Leu465Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15395|Q92577	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L465F	ENST00000407426.3	37	c.1393	CCDS46251.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953208	0.73902	2.73E-4	0.0	ENSG00000163811	ENST00000407426	T	0.78816	-1.21	5.81	4.94	0.65067	.	0.000000	0.85682	D	0.000000	D	0.85965	0.5820	M	0.74881	2.28	0.58432	D	0.999999	D	0.89917	1.0	D	0.71656	0.974	D	0.86941	0.2079	10	0.72032	D	0.01	-13.2233	10.8165	0.46580	0.0:0.8564:0.0:0.1435	.	465	Q15061	WDR43_HUMAN	F	465	ENSP00000384302:L465F	ENSP00000384302:L465F	L	+	1	0	WDR43	29006036	1.000000	0.71417	0.999000	0.59377	0.970000	0.65996	3.083000	0.50136	1.462000	0.47948	0.655000	0.94253	CTT	WDR43	-	NULL		0.343	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR43	HGNC	protein_coding	OTTHUMT00000324865.1	C	XM_087089		29152532	+1	no_errors	ENST00000407426	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR43	23160	genome.wustl.edu	37	2	29165188	29165188	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:29165188C>A	ENST00000407426.3	+	16	1801	c.1745C>A	c.(1744-1746)tCa>tAa	p.S582*		NM_015131.1	NP_055946.1	Q15061	WDR43_HUMAN	WD repeat domain 43	582						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					GTAACAGCATCAGAGAAGACA	0.448																																																	0													107.0	103.0	105.0					2																	29165188		1915	4122	6037	SO:0001587	stop_gained	23160			D87716	CCDS46251.1	2p23.3	2013-01-09			ENSG00000163811	ENSG00000163811		"""WD repeat domain containing"""	28945	protein-coding gene	gene with protein product	"""UTP5, small subunit (SSU) processome component, homolog (yeast)"""					7584026, 7584028, 17699751	Standard	NM_015131		Approved	KIAA0007, NET12, UTP5	uc002rmo.2	Q15061	OTTHUMG00000152015	ENST00000407426.3:c.1745C>A	2.37:g.29165188C>A	ENSP00000384302:p.Ser582*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15395|Q92577	Nonsense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S582*	ENST00000407426.3	37	c.1745	CCDS46251.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.48|15.48	2.845150|2.845150	0.51164|0.51164	.|.	.|.	ENSG00000163811|ENSG00000163811	ENST00000446643|ENST00000407426	.|.	.|.	.|.	4.49|4.49	4.49|4.49	0.54785|0.54785	.|.	.|0.127979	.|0.53938	.|D	.|0.000049	T|.	0.27384|.	0.0672|.	.|.	.|.	.|.	0.80722|0.80722	A|A	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.23726|.	-1.0180|.	3|.	.|0.02654	.|T	.|1	-12.9578|-12.9578	12.236|12.236	0.54516|0.54516	0.0:0.917:0.0:0.083|0.0:0.917:0.0:0.083	.|.	.|.	.|.	.|.	K|X	134|582	.|.	.|ENSP00000384302:S582X	Q|S	+|+	1|2	0|0	WDR43|WDR43	29018692|29018692	0.086000|0.086000	0.21541|0.21541	1.000000|1.000000	0.80357|0.80357	0.484000|0.484000	0.33280|0.33280	1.912000|1.912000	0.39946|0.39946	2.483000|2.483000	0.83821|0.83821	0.561000|0.561000	0.74099|0.74099	CAG|TCA	WDR43	-	superfamily_ARM-type_fold		0.448	WDR43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR43	HGNC	protein_coding	OTTHUMT00000324865.1	C	XM_087089		29165188	+1	no_errors	ENST00000407426	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WDR59	79726	genome.wustl.edu	37	16	74919569	74919569	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:74919569C>T	ENST00000262144.6	-	25	2801	c.2671G>A	c.(2671-2673)Gac>Aac	p.D891N		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	891										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						TTGTGAGGGTCAGGAGGACAG	0.443																																																	0													113.0	104.0	107.0					16																	74919569		2198	4300	6498	SO:0001583	missense	79726			AB067510	CCDS32488.1	16q22.3	2013-01-09				ENSG00000103091		"""WD repeat domain containing"""	25706	protein-coding gene	gene with protein product						11572484	Standard	XM_005256146		Approved	FLJ12270	uc002fdh.1	Q6PJI9		ENST00000262144.6:c.2671G>A	16.37:g.74919569C>T	ENSP00000262144:p.Asp891Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRC3|Q71RE7|Q96PW5|Q9BSW6|Q9HA43	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_UBQ-conjugating_enzyme/RWD,smart_WD40_repeat,smart_RWD-domain,pfscan_RWD-domain,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D891N	ENST00000262144.6	37	c.2671	CCDS32488.1	16	.	.	.	.	.	.	.	.	.	.	C	20.1	3.934304	0.73442	.	.	ENSG00000103091	ENST00000262144	T	0.69306	-0.39	5.36	5.36	0.76844	.	0.051859	0.85682	D	0.000000	T	0.63474	0.2514	L	0.52126	1.63	0.58432	D	0.999999	B;P	0.37330	0.319;0.59	B;B	0.36378	0.111;0.223	T	0.62723	-0.6794	10	0.33141	T	0.24	-22.5571	19.0883	0.93215	0.0:1.0:0.0:0.0	.	891;336	Q6PJI9;Q6PJI9-4	WDR59_HUMAN;.	N	891	ENSP00000262144:D891N	ENSP00000262144:D891N	D	-	1	0	WDR59	73477070	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.800000	0.85949	2.500000	0.84329	0.561000	0.74099	GAC	WDR59	-	NULL		0.443	WDR59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR59	HGNC	protein_coding	OTTHUMT00000410601.3	C	NM_030581		74919569	-1	no_errors	ENST00000262144	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR6	11180	genome.wustl.edu	37	3	49049208	49049208	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:49049208G>C	ENST00000608424.1	+	2	280	c.241G>C	c.(241-243)Gag>Cag	p.E81Q	WDR6_ENST00000448293.1_Missense_Mutation_p.E30Q|WDR6_ENST00000489684.1_Intron|WDR6_ENST00000395474.3_Missense_Mutation_p.E111Q|WDR6_ENST00000415265.2_Intron			Q9NNW5	WDR6_HUMAN	WD repeat domain 6	81					cell cycle arrest (GO:0007050)|negative regulation of autophagy (GO:0010507)|negative regulation of cell proliferation (GO:0008285)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		CCTTGACTTGGAGGCCATGGT	0.557																																																	0													169.0	169.0	169.0					3																	49049208		2203	4300	6503	SO:0001583	missense	11180			AF099100	CCDS2782.2	3p21.31	2013-01-09			ENSG00000178252	ENSG00000178252		"""WD repeat domain containing"""	12758	protein-coding gene	gene with protein product		606031					Standard	NM_018031		Approved		uc003cvj.2	Q9NNW5	OTTHUMG00000133546	ENST00000608424.1:c.241G>C	3.37:g.49049208G>C	ENSP00000477389:p.Glu81Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHK2|Q3MIT1|Q9UF63	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E111Q	ENST00000608424.1	37	c.331		3	.	.	.	.	.	.	.	.	.	.	G	7.512	0.654883	0.14580	.	.	ENSG00000178252	ENST00000395474;ENST00000438660;ENST00000354294;ENST00000448293;ENST00000419837	T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47	5.43	4.56	0.56223	.	0.516674	0.20436	N	0.092368	T	0.55465	0.1922	N	0.22421	0.69	0.25006	N	0.991436	B;B	0.10296	0.003;0.003	B;B	0.06405	0.002;0.001	T	0.42632	-0.9440	10	0.28530	T	0.3	-23.4127	11.755	0.51870	0.0:0.2042:0.7958:0.0	.	81;30	Q9NNW5;E9PDU5	WDR6_HUMAN;.	Q	111;113;81;30;55	ENSP00000378857:E111Q;ENSP00000387692:E113Q;ENSP00000413432:E30Q;ENSP00000390740:E55Q	ENSP00000346247:E81Q	E	+	1	0	WDR6	49024212	0.952000	0.32445	0.844000	0.33320	0.379000	0.30106	1.711000	0.37930	1.278000	0.44430	0.561000	0.74099	GAG	WDR6	-	NULL		0.557	WDR6-024	NOVEL	basic|appris_principal	protein_coding	WDR6	HGNC	protein_coding	OTTHUMT00000471652.1	G			49049208	+1	no_errors	ENST00000395474	ensembl	human	known	70_37	missense	SNP	0.759	C
WDR72	256764	genome.wustl.edu	37	15	53994468	53994468	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:53994468C>A	ENST00000396328.1	-	12	1671	c.1432G>T	c.(1432-1434)Gac>Tac	p.D478Y	WDR72_ENST00000559418.1_Missense_Mutation_p.D488Y|WDR72_ENST00000557913.1_Missense_Mutation_p.D475Y|WDR72_ENST00000360509.5_Missense_Mutation_p.D478Y	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	478										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAACTTTGGTCTAATTTCGAA	0.403																																																	0													125.0	121.0	122.0					15																	53994468		2194	4293	6487	SO:0001583	missense	256764			BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.1432G>T	15.37:g.53994468C>A	ENSP00000379619:p.Asp478Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3I3|Q8N8X2	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D478Y	ENST00000396328.1	37	c.1432	CCDS10151.1	15	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327045	0.81690	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	T;T	0.01933	4.55;4.55	5.54	5.54	0.83059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.17492	0.0420	M	0.88377	2.95	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.00394	-1.1767	10	0.87932	D	0	.	18.4665	0.90757	0.0:1.0:0.0:0.0	.	478	Q3MJ13	WDR72_HUMAN	Y	478	ENSP00000379619:D478Y;ENSP00000353699:D478Y	ENSP00000353699:D478Y	D	-	1	0	WDR72	51781760	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	6.887000	0.75616	2.601000	0.87937	0.655000	0.94253	GAC	WDR72	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.403	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR72	HGNC	protein_coding	OTTHUMT00000254893.2	C	NM_182758		53994468	-1	no_errors	ENST00000360509	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR90	197335	genome.wustl.edu	37	16	705701	705701	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:705701C>T	ENST00000293879.4	+	16	1847	c.1847C>T	c.(1846-1848)tCa>tTa	p.S616L	WDR90_ENST00000549091.1_Missense_Mutation_p.S616L|LA16c-349E10.1_ENST00000573609.1_RNA			Q96KV7	WDR90_HUMAN	WD repeat domain 90	616										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ACCTTCAGCTCAGGTAAGAGG	0.682																																																	0													16.0	20.0	18.0					16																	705701		2149	4235	6384	SO:0001583	missense	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.1847C>T	16.37:g.705701C>T	ENSP00000293879:p.Ser616Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S616L	ENST00000293879.4	37	c.1847	CCDS42092.1	16	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686846	0.29962	.	.	ENSG00000161996	ENST00000549091;ENST00000293879	T;T	0.60548	0.18;0.18	4.67	2.23	0.28157	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.097095	0.43747	U	0.000538	T	0.50667	0.1629	M	0.65498	2.005	0.24816	N	0.99262	B;B;B;B	0.10296	0.001;0.002;0.001;0.003	B;B;B;B	0.14578	0.003;0.009;0.004;0.011	T	0.42137	-0.9469	10	0.33141	T	0.24	.	8.1171	0.30950	0.0:0.7561:0.0:0.2439	.	616;616;617;616	F8VUX9;Q96KV7;C9JMK1;Q96KV7-3	.;WDR90_HUMAN;.;.	L	616	ENSP00000448122:S616L;ENSP00000293879:S616L	ENSP00000293879:S616L	S	+	2	0	WDR90	645702	0.006000	0.16342	0.002000	0.10522	0.006000	0.05464	2.260000	0.43267	0.197000	0.20387	0.561000	0.74099	TCA	WDR90	-	pfam_WD40_repeat,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat		0.682	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	C	NM_145294		705701	+1	no_errors	ENST00000549091	ensembl	human	novel	70_37	missense	SNP	0.098	T
CFAP43	80217	genome.wustl.edu	37	10	105990417	105990417	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:105990417C>G	ENST00000278064.2	-	2	365	c.40G>C	c.(40-42)Gac>Cac	p.D14H	WDR96_ENST00000357060.3_Missense_Mutation_p.D84H|WDR96_ENST00000369720.1_Missense_Mutation_p.D14H|WDR96_ENST00000428666.1_Missense_Mutation_p.D84H|WDR96_ENST00000369719.1_Missense_Mutation_p.D14H																NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(14)|lung(21)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGCTTCCGGTCAGAAAAAGCC	0.418																																																	0													123.0	113.0	116.0					10																	105990417		2203	4300	6503	SO:0001583	missense	80217																														ENST00000278064.2:c.40G>C	10.37:g.105990417C>G	ENSP00000278064:p.Asp14His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_Quino_amine_DH_bsu	p.D84H	ENST00000278064.2	37	c.250		10	.	.	.	.	.	.	.	.	.	.	C	22.9	4.353806	0.82243	.	.	ENSG00000197748	ENST00000357060;ENST00000428666;ENST00000278064;ENST00000369720;ENST00000369719	T;T;T;T;T	0.15017	2.46;2.46;2.46;2.46;2.46	4.94	4.94	0.65067	WD40/YVTN repeat-like-containing domain (1);	0.000000	0.37761	N	0.001948	T	0.43634	0.1256	M	0.70595	2.14	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.998	T	0.43015	-0.9417	10	0.72032	D	0.01	.	18.1677	0.89733	0.0:1.0:0.0:0.0	.	84;84;84	Q8NDM7-5;B4DHB6;Q8NDM7	.;.;WDR96_HUMAN	H	84;84;14;14;14	ENSP00000349568:D84H;ENSP00000400289:D84H;ENSP00000278064:D14H;ENSP00000358734:D14H;ENSP00000358733:D14H	ENSP00000278064:D14H	D	-	1	0	WDR96	105980407	1.000000	0.71417	0.998000	0.56505	0.956000	0.61745	6.761000	0.74945	2.289000	0.77006	0.484000	0.47621	GAC	WDR96	-	superfamily_Quino_amine_DH_bsu		0.418	WDR96-003	KNOWN	basic	protein_coding	WDR96	HGNC	protein_coding	OTTHUMT00000050200.1	C			105990417	-1	no_errors	ENST00000357060	ensembl	human	known	70_37	missense	SNP	1.000	G
WHSC1L1	54904	genome.wustl.edu	37	8	38205256	38205256	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:38205256G>A	ENST00000317025.8	-	2	951	c.434C>T	c.(433-435)cCa>cTa	p.P145L	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.P145L|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.P145L|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.P145L	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	145					histone lysine methylation (GO:0034968)|histone methylation (GO:0016571)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGTCTTCTTTGGAATCACAGT	0.408			T	NUP98	AML																																			Dom	yes		8	8p12	54904	Wolf-Hirschhorn syndrome candidate 1-like 1 (NSD3)		L	0													100.0	103.0	102.0					8																	38205256		2203	4300	6503	SO:0001583	missense	54904			AF332469	CCDS6105.1, CCDS43729.1	8p11.2	2013-05-20			ENSG00000147548	ENSG00000147548			12767	protein-coding gene	gene with protein product		607083				10802047, 23269674	Standard	NM_023034		Approved	FLJ20353, NSD3	uc003xli.3	Q9BZ95		ENST00000317025.8:c.434C>T	8.37:g.38205256G>A	ENSP00000313983:p.Pro145Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZL11|D3DSX1|Q1RMD3|Q3B796|Q6ZSA5|Q9BYU8|Q9BYU9|Q9H2M8|Q9H9W9|Q9NXA6	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.P145L	ENST00000317025.8	37	c.434	CCDS43729.1	8	.	.	.	.	.	.	.	.	.	.	G	17.36	3.369696	0.61624	.	.	ENSG00000147548	ENST00000433384;ENST00000317025;ENST00000446459;ENST00000527502;ENST00000316985;ENST00000529223	D;D;D;T;T	0.95588	-3.7;-3.75;-3.75;-0.24;0.64	5.56	5.56	0.83823	.	0.000000	0.48286	U	0.000197	D	0.94440	0.8211	M	0.66939	2.045	0.58432	D	0.999999	B;B;B;B	0.25105	0.002;0.004;0.118;0.002	B;B;B;B	0.29353	0.004;0.009;0.101;0.004	D	0.92404	0.5932	10	0.52906	T	0.07	.	14.3732	0.66854	0.0:0.0:0.8521:0.1479	.	145;145;145;145	B7ZL11;Q9BZ95-2;Q9BZ95-3;Q9BZ95	.;.;.;NSD3_HUMAN	L	145;145;82;145;145;145	ENSP00000393284:P145L;ENSP00000313983:P145L;ENSP00000434730:P145L;ENSP00000313410:P145L;ENSP00000435422:P145L	ENSP00000313410:P145L	P	-	2	0	WHSC1L1	38324413	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.879000	0.69690	2.589000	0.87451	0.563000	0.77884	CCA	WHSC1L1	-	NULL		0.408	WHSC1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WHSC1L1	HGNC	protein_coding	OTTHUMT00000381924.3	G	NM_023034		38205256	-1	no_errors	ENST00000317025	ensembl	human	known	70_37	missense	SNP	1.000	A
WNK4	65266	genome.wustl.edu	37	17	40939478	40939478	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:40939478C>T	ENST00000246914.5	+	7	1680	c.1659C>T	c.(1657-1659)gtC>gtT	p.V553V	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	553					chloride transport (GO:0006821)|distal tubule morphogenesis (GO:0072156)|intracellular signal transduction (GO:0035556)|ion homeostasis (GO:0050801)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|protein localization (GO:0008104)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)|renal sodium ion absorption (GO:0070294)	cytoplasm (GO:0005737)|tight junction (GO:0005923)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CCCCCAGTGTCTTCCCCCCTG	0.612																																					Esophageal Squamous(6;201 374 4964 23855 42828)												0													117.0	117.0	117.0					17																	40939478		2203	4300	6503	SO:0001819	synonymous_variant	65266			AJ309861	CCDS11439.1	17q21-q22	2005-01-19	2005-01-19	2005-01-19		ENSG00000126562			14544	protein-coding gene	gene with protein product		601844	"""protein kinase, lysine deficient 4"""	PRKWNK4			Standard	NM_032387		Approved		uc002ibj.3	Q96J92		ENST00000246914.5:c.1659C>T	17.37:g.40939478C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0LPI0|Q8N8X3|Q8N8Z2|Q96DT8|Q9BYS5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Kinase_OSR1/WNK_CCT,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V553	ENST00000246914.5	37	c.1659	CCDS11439.1	17																																																																																			WNK4	-	NULL		0.612	WNK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WNK4	HGNC	protein_coding	OTTHUMT00000452389.1	C			40939478	+1	no_errors	ENST00000246914	ensembl	human	known	70_37	silent	SNP	0.906	T
WRNIP1	56897	genome.wustl.edu	37	6	2785498	2785498	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:2785498C>T	ENST00000380773.4	+	7	2189	c.1980C>T	c.(1978-1980)ttC>ttT	p.F660F	WRNIP1_ENST00000380769.4_Silent_p.F440F|WRNIP1_ENST00000380771.4_Silent_p.F635F|WRNIP1_ENST00000380764.1_Silent_p.F276F	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TAGATTTCTTCAAGCAGAGGA	0.502																																																	0													79.0	74.0	76.0					6																	2785498		2203	4300	6503	SO:0001819	synonymous_variant	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1980C>T	6.37:g.2785498C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.F660	ENST00000380773.4	37	c.1980	CCDS4475.1	6																																																																																			WRNIP1	-	pfam_MgsA_C		0.502	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	C	NM_130395		2785498	+1	no_errors	ENST00000380773	ensembl	human	known	70_37	silent	SNP	0.780	T
WSCD2	9671	genome.wustl.edu	37	12	108603970	108603970	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:108603970G>C	ENST00000332082.4	+	5	1388	c.570G>C	c.(568-570)gtG>gtC	p.V190V	WSCD2_ENST00000549903.1_Silent_p.V190V|WSCD2_ENST00000261400.3_Silent_p.V190V|WSCD2_ENST00000547525.1_Silent_p.V190V			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	190	WSC 1. {ECO:0000255|PROSITE- ProRule:PRU00558}.					integral component of membrane (GO:0016021)				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CGACGAACGTGAGCGAGGCAG	0.667																																																	0													33.0	39.0	37.0					12																	108603970		2202	4295	6497	SO:0001819	synonymous_variant	9671				CCDS41828.1	12q23.3	2008-02-05				ENSG00000075035			29117	protein-coding gene	gene with protein product							Standard	NM_014653		Approved	KIAA0789	uc001tms.3	Q2TBF2		ENST00000332082.4:c.570G>C	12.37:g.108603970G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN48|B4DES1|Q8IY35|Q9Y4B7	Silent	SNP	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd	p.V190	ENST00000332082.4	37	c.570	CCDS41828.1	12																																																																																			WSCD2	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd		0.667	WSCD2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	WSCD2	HGNC	protein_coding	OTTHUMT00000405554.1	G	NM_014653		108603970	+1	no_errors	ENST00000261400	ensembl	human	known	70_37	silent	SNP	0.998	C
XIRP1	165904	genome.wustl.edu	37	3	39229161	39229161	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:39229161C>T	ENST00000340369.3	-	2	2004	c.1776G>A	c.(1774-1776)caG>caA	p.Q592Q	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Silent_p.Q592Q	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	592	Interaction with CTNNB1. {ECO:0000250}.				cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACCGGATGGTCTGCACATCGC	0.582																																																	0													74.0	63.0	67.0					3																	39229161		2203	4300	6503	SO:0001819	synonymous_variant	165904			AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.1776G>A	3.37:g.39229161C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	pfam_Actin-binding_Xin_repeat	p.Q592	ENST00000340369.3	37	c.1776	CCDS2683.1	3																																																																																			XIRP1	-	pfam_Actin-binding_Xin_repeat		0.582	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XIRP1	HGNC	protein_coding	OTTHUMT00000254065.1	C	XM_093522		39229161	-1	no_errors	ENST00000340369	ensembl	human	known	70_37	silent	SNP	0.998	T
XIRP2	129446	genome.wustl.edu	37	2	168101840	168101840	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:168101840G>C	ENST00000409195.1	+	9	4027	c.3938G>C	c.(3937-3939)aGa>aCa	p.R1313T	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.R1091T|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.R1313T|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1138					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAGCTACAGAATGCTCTTT	0.368																																																	0													70.0	66.0	67.0					2																	168101840		1860	4100	5960	SO:0001583	missense	129446			AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.3938G>C	2.37:g.168101840G>C	ENSP00000386840:p.Arg1313Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	pfam_Actin-binding_Xin_repeat,superfamily_FH2_actin-bd	p.R1313T	ENST00000409195.1	37	c.3938	CCDS42769.1	2	.	.	.	.	.	.	.	.	.	.	G	3.779	-0.045940	0.07452	.	.	ENSG00000163092	ENST00000409195;ENST00000295237;ENST00000409273	T;T;T	0.34275	1.37;1.37;1.37	5.78	2.92	0.33932	.	0.287844	0.36338	N	0.002651	T	0.16428	0.0395	N	0.05383	-0.06	0.26858	N	0.96802	B;B;B	0.24426	0.103;0.006;0.018	B;B;B	0.25614	0.062;0.007;0.007	T	0.17077	-1.0381	10	0.23891	T	0.37	-10.9327	6.6228	0.22812	0.1525:0.2794:0.5681:0.0	.	1138;1138;1091	A4UGR9;A4UGR9-3;A4UGR9-2	XIRP2_HUMAN;.;.	T	1313;1313;1091	ENSP00000386840:R1313T;ENSP00000295237:R1313T;ENSP00000387255:R1091T	ENSP00000295237:R1313T	R	+	2	0	XIRP2	167810086	0.998000	0.40836	0.999000	0.59377	0.983000	0.72400	1.989000	0.40707	0.745000	0.32763	0.563000	0.77884	AGA	XIRP2	-	pfam_Actin-binding_Xin_repeat		0.368	XIRP2-001	KNOWN	basic|CCDS	protein_coding	XIRP2	HGNC	protein_coding	OTTHUMT00000333547.1	G	NM_152381		168101840	+1	no_errors	ENST00000295237	ensembl	human	known	70_37	missense	SNP	1.000	C
XIST	7503	genome.wustl.edu	37	X	73063292	73063292	+	lincRNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:73063292C>T	ENST00000429829.1	-	0	9296					NR_001564.2				X inactive specific transcript (non-protein coding)																		AACATAGGGTCTTTTTCTCCT	0.353																																																	0													37.0	36.0	37.0					X																	73063292		876	1990	2866			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73063292C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.353	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	C	NR_001564		73063292	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	T
XIST	7503	genome.wustl.edu	37	X	73064429	73064429	+	lincRNA	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:73064429C>T	ENST00000429829.1	-	0	8159					NR_001564.2				X inactive specific transcript (non-protein coding)																		ATGTAAGGGTCTTATGGAGTG	0.448																																																	0													106.0	98.0	100.0					X																	73064429		876	1990	2866			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73064429C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.448	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	C	NR_001564		73064429	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.000	T
XKR7	343702	genome.wustl.edu	37	20	30585132	30585132	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:30585132C>G	ENST00000562532.2	+	3	1786	c.1612C>G	c.(1612-1614)Cat>Gat	p.H538D		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7	538						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGGATGCTCATTTTATTGA	0.632																																																	0													50.0	57.0	55.0					20																	30585132		2203	4300	6503	SO:0001583	missense	343702			AY534245	CCDS33459.1	20q11.21	2014-07-16	2006-01-12		ENSG00000260903	ENSG00000260903			23062	protein-coding gene	gene with protein product			"""X Kell blood group precursor-related family, member 7"", ""chromosome 20 open reading frame 159"""	C20orf159			Standard	NM_001011718		Approved	dJ310O13.4	uc002wxe.3	Q5GH72	OTTHUMG00000032198	ENST00000562532.2:c.1612C>G	20.37:g.30585132C>G	ENSP00000477059:p.His538Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NUG5	Missense_Mutation	SNP	pfam_Transport_prot_XK	p.H538D	ENST00000562532.2	37	c.1612	CCDS33459.1	20	.	.	.	.	.	.	.	.	.	.	C	20.6	4.019812	0.75275	.	.	ENSG00000101321	ENST00000217299	.	.	.	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	T	0.78233	0.4251	M	0.72894	2.215	0.58432	D	0.999999	D	0.76494	0.999	D	0.81914	0.995	T	0.80935	-0.1160	9	0.87932	D	0	-7.581	16.7017	0.85351	0.0:1.0:0.0:0.0	.	538	Q5GH72	XKR7_HUMAN	D	538	.	ENSP00000217299:H538D	H	+	1	0	XKR7	30048793	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.651000	0.83577	2.518000	0.84900	0.561000	0.74099	CAT	XKR7	-	NULL		0.632	XKR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XKR7	HGNC	protein_coding	OTTHUMT00000078597.3	C	NM_001011718		30585132	+1	no_errors	ENST00000217299	ensembl	human	known	70_37	missense	SNP	1.000	G
XRN1	54464	genome.wustl.edu	37	3	142078732	142078732	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:142078732C>T	ENST00000264951.4	-	30	3553	c.3436G>A	c.(3436-3438)Gaa>Aaa	p.E1146K	XRN1_ENST00000392981.2_Missense_Mutation_p.E1146K	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1146					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA metabolic process (GO:0016071)|nuclear mRNA surveillance (GO:0071028)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|RNA metabolic process (GO:0016070)|rRNA catabolic process (GO:0016075)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)	5'-3' exonuclease activity (GO:0008409)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GGAAATTCTTCATCAAATAAT	0.323																																																	0													77.0	79.0	78.0					3																	142078732		2203	4298	6501	SO:0001583	missense	54464			AY137776	CCDS3123.1, CCDS63801.1, CCDS75028.1	3q23	2008-02-05			ENSG00000114127	ENSG00000114127			30654	protein-coding gene	gene with protein product		607994				12515382	Standard	XM_005247544		Approved	SEP1	uc003eus.3	Q8IZH2	OTTHUMG00000159251	ENST00000264951.4:c.3436G>A	3.37:g.142078732C>T	ENSP00000264951:p.Glu1146Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0S3|Q68D88|Q6AI24|Q6MZS8|Q86WS7|Q8N8U4|Q9UF39	Missense_Mutation	SNP	pfam_Put_53exo,pirsf_5_3_exoribonuclease_1	p.E1146K	ENST00000264951.4	37	c.3436	CCDS3123.1	3	.	.	.	.	.	.	.	.	.	.	C	23.1	4.377106	0.82682	.	.	ENSG00000114127	ENST00000264951;ENST00000392981	T;T	0.29655	1.56;1.56	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.24314	0.0589	N	0.20986	0.625	0.80722	D	1	B;B	0.22276	0.067;0.04	B;B	0.27887	0.084;0.038	T	0.07121	-1.0789	10	0.10636	T	0.68	-20.6348	19.427	0.94746	0.0:1.0:0.0:0.0	.	1146;1146	Q8IZH2-2;Q8IZH2	.;XRN1_HUMAN	K	1146	ENSP00000264951:E1146K;ENSP00000376707:E1146K	ENSP00000264951:E1146K	E	-	1	0	XRN1	143561422	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.925000	0.75829	2.573000	0.86826	0.655000	0.94253	GAA	XRN1	-	pirsf_5_3_exoribonuclease_1		0.323	XRN1-001	KNOWN	basic|CCDS	protein_coding	XRN1	HGNC	protein_coding	OTTHUMT00000354087.2	C	NM_019001		142078732	-1	no_errors	ENST00000264951	ensembl	human	known	70_37	missense	SNP	1.000	T
XRRA1	143570	genome.wustl.edu	37	11	74651915	74651915	+	Missense_Mutation	SNP	G	G	C	rs75258704	byFrequency	TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:74651915G>C	ENST00000340360.6	-	3	340	c.9C>G	c.(7-9)ttC>ttG	p.F3L	XRRA1_ENST00000533598.1_Intron|XRRA1_ENST00000527087.1_Missense_Mutation_p.F3L|XRRA1_ENST00000321448.8_Intron	NM_182969.2	NP_892014.1			X-ray radiation resistance associated 1											breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						AGATTCCTGAGAAGGCCATCT	0.542																																																	0													49.0	49.0	49.0					11																	74651915		2147	4262	6409	SO:0001583	missense	143570			AK074152	CCDS44680.1, CCDS58159.1, CCDS58160.1	11q13.4	2010-03-19			ENSG00000166435	ENSG00000166435			18868	protein-coding gene	gene with protein product		609788				12908878, 17295261	Standard	NM_182969		Approved	FLJ00225	uc009yub.3	Q6P2D8		ENST00000340360.6:c.9C>G	11.37:g.74651915G>C	ENSP00000339918:p.Phe3Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.F3L	ENST00000340360.6	37	c.9	CCDS44680.1	11	.	.	.	.	.	.	.	.	.	.	G	11.68	1.710501	0.30322	.	.	ENSG00000166435	ENST00000340360;ENST00000344880;ENST00000398418;ENST00000527087;ENST00000525407	T;T;T	0.46451	0.87;0.87;1.02	5.28	-3.93	0.04143	.	0.352764	0.20970	N	0.082404	T	0.14313	0.0346	N	0.08118	0	0.09310	N	1	B;B	0.10296	0.003;0.002	B;B	0.09377	0.002;0.004	T	0.25641	-1.0126	10	0.11485	T	0.65	-4.0741	5.3331	0.15944	0.5359:0.0:0.2926:0.1715	.	3;3	Q6P2D8;Q6P2D8-2	XRRA1_HUMAN;.	L	3	ENSP00000339918:F3L;ENSP00000435838:F3L;ENSP00000437334:F3L	ENSP00000339918:F3L	F	-	3	2	XRRA1	74329563	0.206000	0.23470	0.039000	0.18376	0.794000	0.44872	-0.201000	0.09464	-0.409000	0.07553	0.563000	0.77884	TTC	XRRA1	-	NULL		0.542	XRRA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XRRA1	HGNC	protein_coding	OTTHUMT00000384715.1	G	NM_182969		74651915	-1	no_errors	ENST00000340360	ensembl	human	known	70_37	missense	SNP	0.002	C
YIPF3	25844	genome.wustl.edu	37	6	43483773	43483773	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:43483773C>G	ENST00000372422.2	-	2	324	c.142G>C	c.(142-144)Gag>Cag	p.E48Q	POLR1C_ENST00000372389.3_5'Flank|POLR1C_ENST00000372344.2_5'Flank|YIPF3_ENST00000506469.1_Missense_Mutation_p.E54Q|POLR1C_ENST00000304004.3_5'Flank	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	48					cell differentiation (GO:0030154)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			CCCATATCCTCGAAGCTAGAG	0.547																																																	0													95.0	87.0	90.0					6																	43483773		2203	4300	6503	SO:0001583	missense	25844			AK000946	CCDS4899.1	6p21.1	2009-10-06	2005-07-04	2005-07-04	ENSG00000137207	ENSG00000137207		"""Yip1 domain family"""	21023	protein-coding gene	gene with protein product		609775	"""chromosome 6 open reading frame 109"""	C6orf109			Standard	NM_015388		Approved	DKFZp566C243, KLIP1, dJ337H4.3, FinGER3	uc003ovl.2	Q9GZM5	OTTHUMG00000014738	ENST00000372422.2:c.142G>C	6.37:g.43483773C>G	ENSP00000361499:p.Glu48Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JTD2|Q6FI85|Q8NI57|Q9NWE3|Q9Y3U9	Missense_Mutation	SNP	NULL	p.E48Q	ENST00000372422.2	37	c.142	CCDS4899.1	6	.	.	.	.	.	.	.	.	.	.	C	27.3	4.822527	0.90873	.	.	ENSG00000137207	ENST00000372422;ENST00000504851;ENST00000506469;ENST00000503972;ENST00000511831	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.55016	0.1894	L	0.57536	1.79	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	D;D;D	0.81914	0.995;0.995;0.992	T	0.55860	-0.8074	10	0.59425	D	0.04	-20.0075	17.6073	0.88041	0.0:1.0:0.0:0.0	.	48;54;48	D6RED8;E7EQR8;Q9GZM5	.;.;YIPF3_HUMAN	Q	48;48;54;48;13	ENSP00000361499:E48Q;ENSP00000425494:E54Q;ENSP00000421461:E48Q;ENSP00000421094:E13Q	ENSP00000259737:E48Q	E	-	1	0	YIPF3	43591751	1.000000	0.71417	0.999000	0.59377	0.983000	0.72400	7.087000	0.76893	2.585000	0.87301	0.460000	0.39030	GAG	YIPF3	-	NULL		0.547	YIPF3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	YIPF3	HGNC	protein_coding	OTTHUMT00000040639.2	C	NM_015388		43483773	-1	no_errors	ENST00000372422	ensembl	human	known	70_37	missense	SNP	1.000	G
NDUFA13	51079	genome.wustl.edu	37	19	19638571	19638571	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:19638571G>A	ENST00000507754.4	+	4	791	c.307G>A	c.(307-309)Gac>Aac	p.D103N	YJEFN3_ENST00000608404.1_Missense_Mutation_p.D103N|YJEFN3_ENST00000514277.4_5'Flank|CTC-260F20.3_ENST00000555938.1_Missense_Mutation_p.D103N|YJEFN3_ENST00000436027.5_5'Flank|NDUFA13_ENST00000503283.1_Missense_Mutation_p.D103N|NDUFA13_ENST00000252576.5_Missense_Mutation_p.D186N|NDUFA13_ENST00000512771.3_Missense_Mutation_p.D103N|NDUFA13_ENST00000428459.2_Missense_Mutation_p.D103N|CTC-260F20.3_ENST00000586674.1_3'UTR			Q9P0J0	NDUAD_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 13	103	Important for inducing cell death.				apoptotic signaling pathway (GO:0097190)|cellular metabolic process (GO:0044237)|cellular response to interferon-beta (GO:0035458)|cellular response to retinoic acid (GO:0071300)|negative regulation of cell growth (GO:0030308)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of peptidase activity (GO:0010952)|positive regulation of protein catabolic process (GO:0045732)|protein import into mitochondrial inner membrane (GO:0045039)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial membrane (GO:0031966)|mitochondrial respiratory chain (GO:0005746)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|NADH dehydrogenase activity (GO:0003954)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	12						GGACGTGCCCGACTGGAAGGT	0.647																																																	0													29.0	24.0	26.0					19																	19638571		2136	4154	6290	SO:0001583	missense	374887			AF261134	CCDS12404.1, CCDS12404.2	19p13.11	2011-07-04			ENSG00000186010	ENSG00000186010		"""Mitochondrial respiratory chain complex / Complex I"""	17194	protein-coding gene	gene with protein product	"""complex I B16.6 subunit"""	609435				12837546, 10924506, 15367666	Standard	NM_015965		Approved	CGI-39, CDA016, GRIM-19, GRIM19, B16.6		Q9P0J0	OTTHUMG00000162211	ENST00000507754.4:c.307G>A	19.37:g.19638571G>A	ENSP00000423673:p.Asp103Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF76|K7EK58|Q6PKI0|Q9H2L3|Q9Y327	Missense_Mutation	SNP	pfam_GRIM-19,pfam_YjeF_N_dom,superfamily_YjeF_N_dom	p.D103N	ENST00000507754.4	37	c.307	CCDS12404.2	19	.	.	.	.	.	.	.	.	.	.	G	9.297	1.052085	0.19827	.	.	ENSG00000186010;ENSG00000186010;ENSG00000250067;ENSG00000258674	ENST00000507754;ENST00000252576;ENST00000553705;ENST00000555938	T;T;T	0.75821	-0.97;-0.97;-0.97	4.99	-0.854	0.10705	.	0.328094	0.30742	N	0.008980	T	0.52370	0.1730	N	0.19112	0.55	0.09310	N	1	B;B;B	0.28208	0.007;0.203;0.011	B;B;B	0.23574	0.006;0.047;0.007	T	0.42498	-0.9448	10	0.46703	T	0.11	.	7.2503	0.26146	0.5173:0.0:0.4827:0.0	.	103;103;103	E7ENQ6;B4DF76;Q9P0J0	.;.;NDUAD_HUMAN	N	103;186;103;103	ENSP00000423673:D103N;ENSP00000252576:D186N;ENSP00000452549:D103N	ENSP00000252576:D186N	D	+	1	0	YJEFN3;NDUFA13;CTC-260F20.3	19499571	0.578000	0.26717	0.009000	0.14445	0.067000	0.16453	1.839000	0.39220	-0.063000	0.13065	0.585000	0.79938	GAC	YJEFN3	-	pfam_GRIM-19,superfamily_YjeF_N_dom		0.647	NDUFA13-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	YJEFN3	HGNC	protein_coding	OTTHUMT00000367916.6	G	NM_015965		19638571	+1	no_errors	ENST00000553705	ensembl	human	known	70_37	missense	SNP	0.001	A
YLPM1	56252	genome.wustl.edu	37	14	75302082	75302082	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:75302082G>A	ENST00000552421.1	+	19	4415	c.4291G>A	c.(4291-4293)Gaa>Aaa	p.E1431K	YLPM1_ENST00000325680.7_Missense_Mutation_p.E2137K			P49750	YLPM1_HUMAN	YLP motif containing 1	1942					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCACCTGGCTGAAAAAGCCCT	0.418																																																	0													108.0	110.0	109.0					14																	75302082		1885	4104	5989	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.4291G>A	14.37:g.75302082G>A	ENSP00000447921:p.Glu1431Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.E2137K	ENST00000552421.1	37	c.6409		14	.	.	.	.	.	.	.	.	.	.	G	16.84	3.234625	0.58886	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	T;T	0.32023	1.47;1.47	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000001	T	0.49150	0.1540	L	0.46157	1.445	0.80722	D	1	D	0.60575	0.988	P	0.60682	0.878	T	0.37220	-0.9715	10	0.62326	D	0.03	-14.7467	20.2768	0.98488	0.0:0.0:1.0:0.0	.	2137	P49750-4	.	K	1431;2137	ENSP00000447921:E1431K;ENSP00000324463:E2137K	ENSP00000324463:E2137K	E	+	1	0	YLPM1	74371835	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.094000	0.71431	2.797000	0.96272	0.655000	0.94253	GAA	YLPM1	-	NULL		0.418	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75302082	+1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A
YLPM1	56252	genome.wustl.edu	37	14	75302098	75302098	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr14:75302098G>A	ENST00000552421.1	+	19	4431	c.4307G>A	c.(4306-4308)cGa>cAa	p.R1436Q	YLPM1_ENST00000325680.7_Missense_Mutation_p.R2142Q			P49750	YLPM1_HUMAN	YLP motif containing 1	1947					regulation of telomere maintenance (GO:0032204)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCCCTCAATCGAACCAAATAT	0.413																																																	0													96.0	97.0	97.0					14																	75302098		1872	4103	5975	SO:0001583	missense	56252			AK090435	CCDS45135.1	14q24.3	2014-06-13	2004-07-15	2004-07-15	ENSG00000119596	ENSG00000119596			17798	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 169"""		"""chromosome 14 open reading frame 170"""	C14orf170		7596406	Standard	NM_019589		Approved	ZAP, PPP1R169	uc001xqj.4	P49750	OTTHUMG00000172503	ENST00000552421.1:c.4307G>A	14.37:g.75302098G>A	ENSP00000447921:p.Arg1436Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P49752|Q96I64|Q9P1V7	Missense_Mutation	SNP	superfamily_FH2_actin-bd	p.R2142Q	ENST00000552421.1	37	c.6425		14	.	.	.	.	.	.	.	.	.	.	G	21.6	4.179110	0.78564	.	.	ENSG00000119596	ENST00000552421;ENST00000325680	T;T	0.36699	1.24;1.24	5.9	5.9	0.94986	.	0.000000	0.64402	D	0.000018	T	0.49626	0.1568	N	0.24115	0.695	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45293	-0.9271	10	0.46703	T	0.11	-8.0289	20.2768	0.98488	0.0:0.0:1.0:0.0	.	2142	P49750-4	.	Q	1436;2142	ENSP00000447921:R1436Q;ENSP00000324463:R2142Q	ENSP00000324463:R2142Q	R	+	2	0	YLPM1	74371851	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.797000	0.96272	0.655000	0.94253	CGA	YLPM1	-	NULL		0.413	YLPM1-008	NOVEL	not_organism_supported|basic|exp_conf	protein_coding	YLPM1	Uniprot_genename	protein_coding	OTTHUMT00000404450.1	G	NM_019589		75302098	+1	no_errors	ENST00000325680	ensembl	human	known	70_37	missense	SNP	1.000	A
YTHDF3	253943	genome.wustl.edu	37	8	64125042	64125042	+	3'UTR	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:64125042C>G	ENST00000521674.1	+	0	4860				YTHDF3_ENST00000542911.2_3'UTR|YTHDF3_ENST00000539294.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAGTGCATTCTGCATCCTTT	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	253943			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000521674.1:c.*4857C>G	8.37:g.64125042C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000521674.1	37	NULL		8																																																																																			YTHDF3	-	-		0.289	YTHDF3-001	KNOWN	basic	processed_transcript	YTHDF3	HGNC	protein_coding	OTTHUMT00000378462.2	C	NM_152758		64125042	+1	no_errors	ENST00000521674	ensembl	human	known	70_37	rna	SNP	1.000	G
YY1AP1	55249	genome.wustl.edu	37	1	155644834	155644834	+	Silent	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155644834G>C	ENST00000295566.4	-	6	599	c.576C>G	c.(574-576)ctC>ctG	p.L192L	YY1AP1_ENST00000361831.5_Silent_p.L115L|YY1AP1_ENST00000311573.5_Silent_p.L115L|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000407221.1_Silent_p.L115L|YY1AP1_ENST00000368339.5_Silent_p.L264L|YY1AP1_ENST00000405763.3_Silent_p.L264L|YY1AP1_ENST00000368340.5_Silent_p.L264L|YY1AP1_ENST00000347088.5_Silent_p.L126L|YY1AP1_ENST00000359205.5_Silent_p.L115L|YY1AP1_ENST00000404643.1_Silent_p.L126L|YY1AP1_ENST00000368330.2_Silent_p.L126L|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000355499.4_Silent_p.L126L|YY1AP1_ENST00000438245.2_Silent_p.L126L|YY1AP1_ENST00000535662.1_Intron	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1	192					regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CCTCCGGATTGAGATTGGGGT	0.418																																																	0													111.0	111.0	111.0					1																	155644834		2203	4300	6503	SO:0001819	synonymous_variant	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.576C>G	1.37:g.155644834G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Silent	SNP	NULL	p.L264	ENST00000295566.4	37	c.792	CCDS1115.1	1																																																																																			YY1AP1	-	NULL		0.418	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	G	NM_139118		155644834	-1	no_errors	ENST00000368339	ensembl	human	known	70_37	silent	SNP	0.868	C
YY1AP1	55249	genome.wustl.edu	37	1	155658092	155658092	+	Intron	SNP	C	C	A	rs574585167		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:155658092C>A	ENST00000295566.4	-	2	71				YY1AP1_ENST00000361831.5_Intron|DAP3_ENST00000368336.5_5'Flank|YY1AP1_ENST00000311573.5_5'Flank|YY1AP1_ENST00000476093.1_Intron|YY1AP1_ENST00000407221.1_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.R55L|YY1AP1_ENST00000405763.3_Missense_Mutation_p.R55L|DAP3_ENST00000471642.2_Intron|YY1AP1_ENST00000368340.5_Missense_Mutation_p.R55L|YY1AP1_ENST00000347088.5_Intron|YY1AP1_ENST00000359205.5_Intron|DAP3_ENST00000421487.2_5'Flank|YY1AP1_ENST00000404643.1_Intron|YY1AP1_ENST00000368330.2_Intron|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000465375.1_5'Flank|YY1AP1_ENST00000355499.4_Intron|DAP3_ENST00000535183.1_5'Flank|YY1AP1_ENST00000438245.2_5'UTR|DAP3_ENST00000343043.3_5'Flank	NM_001198906.1|NM_139118.2	NP_001185835.1|NP_620829.1	Q9H869	YYAP1_HUMAN	YY1 associated protein 1						regulation of cell cycle (GO:0051726)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CGTTTCCCCTCGCAAAGCGAA	0.642													.|||	1	0.000199681	0.0	0.0	5008	,	,		15821	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	55249			BC008766	CCDS1115.1, CCDS1116.1, CCDS55643.1, CCDS55644.1, CCDS55645.1	1q22	2009-05-07			ENSG00000163374	ENSG00000163374			30935	protein-coding gene	gene with protein product		607860				11710830	Standard	NM_139119		Approved	YY1AP, HCCA2, YAP		Q9H869	OTTHUMG00000035437	ENST00000295566.4:c.48-100G>T	1.37:g.155658092C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ54|B4DMP2|B4E0I0|D3DV96|D3DV98|H7BY62|Q5VYZ1|Q5VYZ4|Q5VYZ7|Q7L4C3|Q7L5E2|Q8IXA6|Q8TEW5|Q8TF04|Q96HB6|Q9BQ64|Q9NV84	Missense_Mutation	SNP	NULL	p.R55L	ENST00000295566.4	37	c.164	CCDS1115.1	1	.	.	.	.	.	.	.	.	.	.	c	19.66	3.870063	0.72065	.	.	ENSG00000163374	ENST00000368340;ENST00000368339;ENST00000405763	T;T	0.26660	1.75;1.72	2.63	2.63	0.31362	.	0.126422	0.53938	D	0.000051	T	0.13030	0.0316	N	0.08118	0	0.80722	D	1	D;D;D	0.60160	0.987;0.987;0.987	D;D;D	0.66084	0.941;0.941;0.941	T	0.05037	-1.0910	9	.	.	.	.	8.8441	0.35159	0.0:1.0:0.0:0.0	.	55;55;55	B4DMP2;B0QZ55;Q5VYZ1	.;.;.	L	55	ENSP00000357324:R55L;ENSP00000357323:R55L	.	R	-	2	0	YY1AP1	153924716	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	1.431000	0.34925	1.464000	0.47987	0.398000	0.26397	CGA	YY1AP1	-	NULL		0.642	YY1AP1-043	PUTATIVE	basic|appris_candidate|CCDS	protein_coding	YY1AP1	HGNC	protein_coding	OTTHUMT00000086027.1	C	NM_139118		155658092	-1	no_errors	ENST00000368339	ensembl	human	known	70_37	missense	SNP	1.000	A
ZACN	353174	genome.wustl.edu	37	17	74076558	74076558	+	Intron	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr17:74076558G>A	ENST00000334586.5	+	5	627				ZACN_ENST00000392503.2_Intron|EXOC7_ENST00000591724.1_5'Flank	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel						ion transmembrane transport (GO:0034220)|response to zinc ion (GO:0010043)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	extracellular ligand-gated ion channel activity (GO:0005230)|ligand-gated ion channel activity (GO:0015276)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GAAGGTGGGGGAGGGGAACTC	0.647																																																	0																																										SO:0001627	intron_variant	353174			AK122638	CCDS11740.2	17q25.3	2012-01-18	2008-04-17	2008-04-17	ENSG00000186919	ENSG00000186919		"""Ligand-gated ion channels / Zinc activated channels"""	29504	protein-coding gene	gene with protein product		610935	"""ligand-gated ion channel, zinc activated 1"""	LGICZ1		12381728, 16083862	Standard	NM_180990		Approved	LGICZ, L2, ZAC, ZAC1	uc002jqn.2	Q401N2	OTTHUMG00000157186	ENST00000334586.5:c.544+53G>A	17.37:g.74076558G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TB29|Q6ZWK3|Q86YW4	Silent	SNP	pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd	p.G199	ENST00000334586.5	37	c.597	CCDS11740.2	17																																																																																			ZACN	-	NULL		0.647	ZACN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZACN	HGNC	protein_coding	OTTHUMT00000347827.2	G	NM_180990		74076558	+1	no_errors	ENST00000425015	ensembl	human	known	70_37	silent	SNP	0.000	A
ZBTB38	253461	genome.wustl.edu	37	3	141162301	141162301	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:141162301C>G	ENST00000514251.1	+	4	1350	c.1071C>G	c.(1069-1071)ctC>ctG	p.L357L	ZBTB38_ENST00000441582.2_Silent_p.L357L|ZBTB38_ENST00000321464.5_Silent_p.L358L					zinc finger and BTB domain containing 38											breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GCACTCTGCTCAGTGCCCACA	0.522																																																	0													118.0	118.0	118.0					3																	141162301		1965	4149	6114	SO:0001819	synonymous_variant	253461			BC015444	CCDS43157.1	3q23	2014-06-13			ENSG00000177311	ENSG00000177311		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	26636	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 171"""	612218				12477932	Standard	NM_001080412		Approved	FLJ35036, CIBZ, ZNF921, PPP1R171	uc003etw.3	Q8NAP3	OTTHUMG00000160128	ENST00000514251.1:c.1071C>G	3.37:g.141162301C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L358	ENST00000514251.1	37	c.1074	CCDS43157.1	3																																																																																			ZBTB38	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.522	ZBTB38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB38	HGNC	protein_coding	OTTHUMT00000359329.2	C			141162301	+1	no_errors	ENST00000321464	ensembl	human	known	70_37	silent	SNP	0.783	G
ZBTB45	84878	genome.wustl.edu	37	19	59025616	59025616	+	Silent	SNP	G	G	C	rs530290313		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:59025616G>C	ENST00000594051.1	-	3	1821	c.1341C>G	c.(1339-1341)ctC>ctG	p.L447L	SLC27A5_ENST00000601355.1_5'Flank|ZBTB45_ENST00000354590.3_Silent_p.L447L|ZBTB45_ENST00000600990.1_Silent_p.L447L|SLC27A5_ENST00000263093.2_5'Flank			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	447					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCATGTGTTTGAGCAGGTAGT	0.647																																					NSCLC(164;1383 2017 5233 27540 46677)												0													28.0	28.0	28.0					19																	59025616		2201	4298	6499	SO:0001819	synonymous_variant	84878			AK027392	CCDS12984.1	19q13.43	2013-10-10	2006-09-19	2006-09-19	ENSG00000119574	ENSG00000119574		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	23715	protein-coding gene	gene with protein product			"""zinc finger protein 499"""	ZNF499			Standard	NM_032792		Approved	FLJ14486	uc002qtd.3	Q96K62	OTTHUMG00000183545	ENST00000594051.1:c.1341C>G	19.37:g.59025616G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.L447	ENST00000594051.1	37	c.1341	CCDS12984.1	19																																																																																			ZBTB45	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.647	ZBTB45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBTB45	HGNC	protein_coding	OTTHUMT00000467067.1	G	NM_032792		59025616	-1	no_errors	ENST00000354590	ensembl	human	known	70_37	silent	SNP	1.000	C
ZBTB7C	201501	genome.wustl.edu	37	18	45567016	45567016	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:45567016C>T	ENST00000588982.1	-	3	964	c.463G>A	c.(463-465)Gag>Aag	p.E155K	ZBTB7C_ENST00000535628.2_Missense_Mutation_p.E155K|ZBTB7C_ENST00000586438.1_Missense_Mutation_p.E155K|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.E155K|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.E155K			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	155	Asp-rich.|Glu-rich.						metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						tcctcctcctcttcgtcctcc	0.577																																																	0													157.0	120.0	132.0					18																	45567016		2203	4300	6503	SO:0001583	missense	201501			Y14591	CCDS32830.1	18q21.1	2013-01-08		2005-04-07	ENSG00000184828	ENSG00000184828		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	31700	protein-coding gene	gene with protein product			"""zinc finger and BTB domain containing 36"""	ZBTB36			Standard	NM_001039360		Approved	ZNF857C	uc002ldb.3	A1YPR0		ENST00000588982.1:c.463G>A	18.37:g.45567016C>T	ENSP00000468782:p.Glu155Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O73453	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.E155K	ENST00000588982.1	37	c.463	CCDS32830.1	18	.	.	.	.	.	.	.	.	.	.	C	17.92	3.507641	0.64410	.	.	ENSG00000184828	ENST00000535628;ENST00000332053	T;T	0.07800	3.16;3.16	5.34	5.34	0.76211	.	0.471757	0.18721	N	0.133005	T	0.05502	0.0145	N	0.14661	0.345	0.52501	D	0.999959	B;B;B	0.30482	0.281;0.18;0.18	B;B;B	0.26969	0.051;0.075;0.075	T	0.37079	-0.9721	10	0.08179	T	0.78	.	16.8014	0.85615	0.0:1.0:0.0:0.0	.	155;155;155	B4DKU0;B2RG49;A1YPR0	.;.;ZBT7C_HUMAN	K	155	ENSP00000439781:E155K;ENSP00000328732:E155K	ENSP00000328732:E155K	E	-	1	0	ZBTB7C	43821014	1.000000	0.71417	0.949000	0.38748	0.099000	0.18886	6.921000	0.75805	2.491000	0.84063	0.561000	0.74099	GAG	ZBTB7C	-	NULL		0.577	ZBTB7C-025	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB7C	HGNC	protein_coding	OTTHUMT00000450731.1	C	NM_001039360		45567016	-1	no_errors	ENST00000332053	ensembl	human	known	70_37	missense	SNP	1.000	T
ZC3H11A	9877	genome.wustl.edu	37	1	203770989	203770989	+	5'UTR	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:203770989G>A	ENST00000545588.1	+	0	2527				ZC3H11A_ENST00000466470.1_3'UTR|ZC3H11A_ENST00000367214.1_Intron|ZC3H11A_ENST00000332127.4_Intron|ZC3H11A_ENST00000367212.3_Intron	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A						poly(A)+ mRNA export from nucleus (GO:0016973)		metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ATGCCATTGTGAAATGAAATC	0.274																																																	0																																										SO:0001623	5_prime_UTR_variant	9877				CCDS30978.1	1q32.1	2012-07-05	2005-06-02	2005-06-02	ENSG00000058673	ENSG00000058673		"""Zinc fingers, CCCH-type domain containing"""	29093	protein-coding gene	gene with protein product		613513	"""zinc finger CCCH-type domain containing 11A"""	ZC3HDC11A		9734811	Standard	NM_014827		Approved	KIAA0663	uc001hac.3	O75152	OTTHUMG00000035909	ENST00000545588.1:c.-1301G>A	1.37:g.203770989G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHY4|Q6AHY9|Q6AW79|Q6AWA1|Q6PJK4|Q86XZ7	RNA	SNP	-	NULL	ENST00000545588.1	37	NULL	CCDS30978.1	1																																																																																			ZC3H11A	-	-		0.274	ZC3H11A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H11A	HGNC	protein_coding	OTTHUMT00000087471.3	G	NM_014827		203770989	+1	no_errors	ENST00000461980	ensembl	human	known	70_37	rna	SNP	0.982	A
ZC3H12C	85463	genome.wustl.edu	37	11	110036067	110036067	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr11:110036067G>C	ENST00000278590.3	+	6	2308	c.2257G>C	c.(2257-2259)Gac>Cac	p.D753H	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D754H|ZC3H12C_ENST00000453089.2_Missense_Mutation_p.D722H	NM_033390.1	NP_203748.1	Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	753							endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CAGCATCTCTGACTCTCGACT	0.562																																																	0													156.0	163.0	161.0					11																	110036067		2088	4216	6304	SO:0001583	missense	85463				CCDS44727.1	11q22.3	2012-07-05			ENSG00000149289	ENSG00000149289		"""Zinc fingers, CCCH-type domain containing"""	29362	protein-coding gene	gene with protein product	"""MCP induced protein 3"""	615001				11214970, 18178554	Standard	NM_033390		Approved	KIAA1726, MCPIP3	uc009yxw.3	Q9C0D7	OTTHUMG00000166572	ENST00000278590.3:c.2257G>C	11.37:g.110036067G>C	ENSP00000278590:p.Asp753His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI65|B4DR47	Missense_Mutation	SNP	pfam_RNase_Zc3h12	p.D753H	ENST00000278590.3	37	c.2257	CCDS44727.1	11	.	.	.	.	.	.	.	.	.	.	G	15.57	2.871375	0.51695	.	.	ENSG00000149289	ENST00000278590;ENST00000528673;ENST00000453089	T;T;T	0.41400	1.0;1.0;1.01	5.92	5.92	0.95590	.	0.096845	0.64402	D	0.000001	T	0.67088	0.2856	M	0.69823	2.125	0.54753	D	0.999989	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.997;0.997	T	0.67608	-0.5627	10	0.87932	D	0	-26.6989	20.3206	0.98668	0.0:0.0:1.0:0.0	.	754;753;753	B4DR47;B4DI65;Q9C0D7	.;.;ZC12C_HUMAN	H	753;754;722	ENSP00000278590:D753H;ENSP00000431821:D754H;ENSP00000413094:D722H	ENSP00000278590:D753H	D	+	1	0	ZC3H12C	109541277	1.000000	0.71417	0.875000	0.34327	0.071000	0.16799	7.582000	0.82546	2.809000	0.96659	0.655000	0.94253	GAC	ZC3H12C	-	NULL		0.562	ZC3H12C-001	KNOWN	basic|CCDS	protein_coding	ZC3H12C	HGNC	protein_coding	OTTHUMT00000390491.1	G	NM_033390		110036067	+1	no_errors	ENST00000278590	ensembl	human	known	70_37	missense	SNP	1.000	C
ZCCHC6	79670	genome.wustl.edu	37	9	88960659	88960659	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:88960659G>A	ENST00000375963.3	-	4	916	c.744C>T	c.(742-744)ctC>ctT	p.L248L	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375960.2_Silent_p.L248L|ZCCHC6_ENST00000375947.1_Silent_p.L81L|ZCCHC6_ENST00000375961.2_Silent_p.L248L|ZCCHC6_ENST00000375948.1_5'Flank	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	248					RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						AAACATCACAGAGTCTGCAGG	0.348																																																	0													186.0	171.0	176.0					9																	88960659		2203	4300	6503	SO:0001819	synonymous_variant	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.744C>T	9.37:g.88960659G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	pfam_PAP_assoc,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_Znf_U1,smart_Znf_CCHC,pfscan_Znf_CCHC	p.L248	ENST00000375963.3	37	c.744	CCDS35057.1	9																																																																																			ZCCHC6	-	smart_Znf_U1		0.348	ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZCCHC6	HGNC	protein_coding	OTTHUMT00000052918.1	G	NM_024617		88960659	-1	no_errors	ENST00000375963	ensembl	human	known	70_37	silent	SNP	0.987	A
ZDHHC23	254887	genome.wustl.edu	37	3	113672893	113672893	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:113672893C>T	ENST00000330212.3	+	3	807	c.508C>T	c.(508-510)Cag>Tag	p.Q170*	ZDHHC23_ENST00000498275.1_Nonsense_Mutation_p.Q164*	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	170					protein localization to plasma membrane (GO:0072659)|protein palmitoylation (GO:0018345)	integral component of membrane (GO:0016021)	protein-cysteine S-palmitoyltransferase activity (GO:0019706)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GGGTCCCGTTCAGCTGGCGGT	0.532																																																	0													133.0	133.0	133.0					3																	113672893		2203	4300	6503	SO:0001587	stop_gained	254887			AK127025	CCDS33827.1	3q13.31	2008-05-02			ENSG00000184307	ENSG00000184307		"""Zinc fingers, DHHC-type"""	28654	protein-coding gene	gene with protein product						12477932	Standard	NM_173570		Approved	MGC42530	uc003eau.3	Q8IYP9	OTTHUMG00000159335	ENST00000330212.3:c.508C>T	3.37:g.113672893C>T	ENSP00000330485:p.Gln170*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN76	Nonsense_Mutation	SNP	pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase	p.Q170*	ENST00000330212.3	37	c.508	CCDS33827.1	3	.	.	.	.	.	.	.	.	.	.	C	20.1	3.941022	0.73557	.	.	ENSG00000184307	ENST00000330212;ENST00000498275	.	.	.	5.66	5.66	0.87406	.	0.296168	0.38959	N	0.001512	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	-17.5183	19.7359	0.96202	0.0:1.0:0.0:0.0	.	.	.	.	X	170;164	.	ENSP00000330485:Q170X	Q	+	1	0	ZDHHC23	115155583	1.000000	0.71417	0.170000	0.22879	0.331000	0.28603	5.388000	0.66249	2.672000	0.90937	0.462000	0.41574	CAG	ZDHHC23	-	NULL		0.532	ZDHHC23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZDHHC23	HGNC	protein_coding	OTTHUMT00000354702.1	C	NM_173570		113672893	+1	no_errors	ENST00000478793	ensembl	human	known	70_37	nonsense	SNP	0.980	T
ZFC3H1	196441	genome.wustl.edu	37	12	72057194	72057194	+	Missense_Mutation	SNP	G	G	A	rs200302420		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr12:72057194G>A	ENST00000378743.3	-	1	555	c.197C>T	c.(196-198)tCt>tTt	p.S66F	THAP2_ENST00000547843.1_5'Flank|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.S66F|THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000548100.1_Missense_Mutation_p.S66F|ZFC3H1_ENST00000549407.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	66	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCTCCGCCAGATCCACCGCC	0.672											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													40.0	49.0	46.0					12																	72057194		2006	4184	6190	SO:0001583	missense	196441			AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.197C>T	12.37:g.72057194G>A	ENSP00000368017:p.Ser66Phe	Somatic	1134	WXS	Illumina HiSeq	Phase_IV	Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	Missense_Mutation	SNP	pfam_Putative_zinc-finger_domain,smart_HAT,pfscan_TPR-contain_dom	p.S66F	ENST00000378743.3	37	c.197	CCDS41813.1	12	.	.	.	.	.	.	.	.	.	.	G	17.07	3.295624	0.60086	.	.	ENSG00000133858	ENST00000378743;ENST00000548100;ENST00000552037	T	0.34072	1.38	4.66	4.66	0.58398	.	0.207406	0.32624	N	0.005859	T	0.41073	0.1143	N	0.14661	0.345	0.80722	D	1	D;D;D	0.69078	0.997;0.997;0.99	D;D;D	0.78314	0.991;0.991;0.962	T	0.36163	-0.9759	10	0.48119	T	0.1	.	12.9032	0.58137	0.0:0.0:1.0:0.0	.	66;66;66	G3V1X1;O60293-4;O60293	.;.;ZC3H1_HUMAN	F	66	ENSP00000368017:S66F	ENSP00000368017:S66F	S	-	2	0	ZFC3H1	70343461	1.000000	0.71417	1.000000	0.80357	0.960000	0.62799	5.628000	0.67791	2.427000	0.82271	0.455000	0.32223	TCT	ZFC3H1	-	NULL		0.672	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFC3H1	HGNC	protein_coding	OTTHUMT00000404751.1	G	NM_144982		72057194	-1	no_errors	ENST00000378743	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72992795	72992795	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:72992795G>A	ENST00000268489.5	-	2	1922	c.1250C>T	c.(1249-1251)tCa>tTa	p.S417L	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	417					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAGGGGGACTGAGGTAATGGG	0.647																																																	0													63.0	77.0	72.0					16																	72992795		2195	4290	6485	SO:0001583	missense	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1250C>T	16.37:g.72992795G>A	ENSP00000268489:p.Ser417Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S417L	ENST00000268489.5	37	c.1250	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	G	9.440	1.087862	0.20390	.	.	ENSG00000140836	ENST00000268489	T	0.76968	-1.06	4.92	3.95	0.45737	.	0.000000	0.40144	N	0.001176	T	0.78266	0.4256	L	0.27053	0.805	0.80722	D	1	D	0.63046	0.992	P	0.58210	0.835	T	0.80828	-0.1208	10	0.59425	D	0.04	.	15.6523	0.77108	0.0:0.1376:0.8624:0.0	.	417	Q15911	ZFHX3_HUMAN	L	417	ENSP00000268489:S417L	ENSP00000268489:S417L	S	-	2	0	ZFHX3	71550296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.499000	0.81566	1.177000	0.42855	0.591000	0.81541	TCA	ZFHX3	-	NULL		0.647	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72992795	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFHX4	79776	genome.wustl.edu	37	8	77754902	77754902	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr8:77754902G>A	ENST00000521891.2	+	6	3854	c.3406G>A	c.(3406-3408)Gag>Aag	p.E1136K	ZFHX4_ENST00000455469.2_Splice_Site_p.E1101K|ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1110K|ZFHX4_ENST00000050961.6_Splice_Site_p.E1101K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1101					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGAACAAAGTGAGGAGGCAGA	0.418										HNSCC(33;0.089)																																							0													62.0	63.0	63.0					8																	77754902		1854	4046	5900	SO:0001583	missense	79776				CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.3406G>A	8.37:g.77754902G>A	ENSP00000430497:p.Glu1136Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.E1136K	ENST00000521891.2	37	c.3406	CCDS47878.2	8	.	.	.	.	.	.	.	.	.	.	G	16.66	3.185675	0.57909	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.50548	0.74;0.77;0.75;0.75	4.8	4.8	0.61643	.	0.000000	0.42821	U	0.000657	T	0.57257	0.2041	M	0.63428	1.95	0.54753	D	0.999985	D;D;D	0.58268	0.97;0.982;0.982	P;P;P	0.55615	0.607;0.78;0.78	T	0.52719	-0.8538	10	0.09338	T	0.73	.	18.0481	0.89338	0.0:0.0:1.0:0.0	.	1101;1101;1136	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	K	1136;1136;1101;1101;1110	ENSP00000430497:E1136K;ENSP00000399605:E1101K;ENSP00000050961:E1101K;ENSP00000430848:E1110K	ENSP00000050961:E1101K	E	+	1	0	ZFHX4	77917457	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.208000	0.89748	2.498000	0.84270	0.650000	0.86243	GAG	ZFHX4	-	NULL		0.418	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZFHX4	HGNC	protein_coding	OTTHUMT00000379197.2	G	NM_024721		77754902	+1	no_errors	ENST00000521891	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNF106	64397	genome.wustl.edu	37	15	42729566	42729566	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:42729566G>C	ENST00000263805.4	-	10	4867	c.4541C>G	c.(4540-4542)tCa>tGa	p.S1514*	ZNF106_ENST00000565380.1_Nonsense_Mutation_p.S742*|ZNF106_ENST00000565611.1_Nonsense_Mutation_p.S699*	NM_001284306.1|NM_001284307.1|NM_022473.1	NP_001271235.1|NP_001271236.1|NP_071918.1	Q9H2Y7	ZN106_HUMAN	zinc finger protein 106	1514					insulin receptor signaling pathway (GO:0008286)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										TCCTGGCTCTGAAGATATTTC	0.393																																																	0													108.0	103.0	105.0					15																	42729566		2203	4299	6502	SO:0001587	stop_gained	64397			AF205632	CCDS32208.1, CCDS61602.1, CCDS61603.1	15q15.1	2012-11-27	2012-11-27		ENSG00000103994	ENSG00000103994		"""Zinc fingers, C2H2-type"""	12886	protein-coding gene	gene with protein product	"""SH3-domain binding protein 3"""		"""zinc finger protein 106 homolog (mouse)"""	ZFP106			Standard	XM_005254591		Approved	ZNF474, SH3BP3	uc001zpw.3	Q9H2Y7	OTTHUMG00000173244	ENST00000263805.4:c.4541C>G	15.37:g.42729566G>C	ENSP00000263805:p.Ser1514*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZ40|E9PE29|Q6NSD9|Q6PEK1|Q86T43|Q86T45|Q86T50|Q86T58|Q86TA9|Q96M37|Q9H7B8	Nonsense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_Znf_C2H2-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S1514*	ENST00000263805.4	37	c.4541	CCDS32208.1	15	.	.	.	.	.	.	.	.	.	.	G	42	9.187615	0.99094	.	.	ENSG00000103994	ENST00000263805;ENST00000434903	.	.	.	4.95	4.95	0.65309	.	0.133682	0.52532	D	0.000062	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	-10.3797	18.3733	0.90420	0.0:0.0:1.0:0.0	.	.	.	.	X	1514;742	.	ENSP00000263805:S1514X	S	-	2	0	ZFP106	40516858	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	8.628000	0.90979	2.590000	0.87494	0.462000	0.41574	TCA	ZFP106	-	NULL		0.393	ZNF106-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP106	HGNC	protein_coding	OTTHUMT00000422587.1	G	NM_022473		42729566	-1	no_errors	ENST00000263805	ensembl	human	known	70_37	nonsense	SNP	1.000	C
ZFP36L2	678	genome.wustl.edu	37	2	43452529	43452529	+	Silent	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:43452529C>T	ENST00000282388.3	-	2	707	c.414G>A	c.(412-414)caG>caA	p.Q138Q	THADA_ENST00000330266.7_Intron	NM_006887.4	NP_008818.3	P47974	TISD_HUMAN	ZFP36 ring finger protein-like 2	138	Poly-Gln.				cell proliferation (GO:0008283)|definitive hemopoiesis (GO:0060216)|hemopoiesis (GO:0030097)|mRNA catabolic process (GO:0006402)|negative regulation of stem cell differentiation (GO:2000737)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	AU-rich element binding (GO:0017091)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|mRNA 3'-UTR AU-rich region binding (GO:0035925)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(82;0.00323)|all_hematologic(82;0.00824)				TCTGCTGCTGCTGCAGGTGCA	0.667																																																	0													24.0	27.0	26.0					2																	43452529		2203	4300	6503	SO:0001819	synonymous_variant	678			X78992	CCDS1811.1	2p22.3-p21	2012-11-27	2012-11-27	2001-11-23	ENSG00000152518	ENSG00000152518		"""RING-type (C3HC4) zinc fingers"""	1108	protein-coding gene	gene with protein product		612053	"""zinc finger protein 36, C3H type-like 1"", ""zinc finger protein 36, C3H type-like 2"""	BRF2		7835719, 8545129, 14981510, 17172869	Standard	NM_006887		Approved	ERF2, RNF162C, TIS11D	uc002rsv.4	P47974	OTTHUMG00000128642	ENST00000282388.3:c.414G>A	2.37:g.43452529C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TB4|Q9BSJ3	Silent	SNP	pfam_Tis11B_N,pfam_Znf_CCCH,smart_Znf_CCCH	p.Q138	ENST00000282388.3	37	c.414	CCDS1811.1	2																																																																																			ZFP36L2	-	pfam_Tis11B_N		0.667	ZFP36L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP36L2	HGNC	protein_coding	OTTHUMT00000250513.2	C	NM_006887		43452529	-1	no_errors	ENST00000282388	ensembl	human	known	70_37	silent	SNP	1.000	T
ZKSCAN2	342357	genome.wustl.edu	37	16	25266673	25266673	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:25266673C>G	ENST00000328086.7	-	2	1243	c.440G>C	c.(439-441)gGa>gCa	p.G147A		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	147					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CCACGCTGCTCCAAGTGGGGA	0.582																																																	0													46.0	43.0	44.0					16																	25266673		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.440G>C	16.37:g.25266673C>G	ENSP00000331626:p.Gly147Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G147A	ENST00000328086.7	37	c.440	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	6.868	0.529523	0.13127	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.13089	2.62	5.3	4.34	0.51931	Transcription regulator SCAN (1);	0.183972	0.39020	N	0.001497	T	0.11836	0.0288	L	0.48642	1.525	0.29456	N	0.858094	B;P	0.36086	0.057;0.536	B;B	0.32090	0.076;0.14	T	0.08066	-1.0740	10	0.26408	T	0.33	-7.9422	11.5549	0.50741	0.1789:0.8211:0.0:0.0	.	147;147	Q63HK3-2;Q63HK3	.;ZKSC2_HUMAN	A	147	ENSP00000331626:G147A	ENSP00000331626:G147A	G	-	2	0	ZKSCAN2	25174174	0.982000	0.34865	0.345000	0.25642	0.077000	0.17291	2.372000	0.44257	1.337000	0.45525	0.555000	0.69702	GGA	ZKSCAN2	-	smart_Tscrpt_reg_SCAN		0.582	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25266673	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	missense	SNP	0.954	G
ZNF157	7712	genome.wustl.edu	37	X	47272077	47272077	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:47272077G>C	ENST00000377073.3	+	4	691	c.605G>C	c.(604-606)aGa>aCa	p.R202T		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	202					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTCAGTGCAAGATCATACCTC	0.428																																																	0													71.0	63.0	66.0					X																	47272077		2203	4300	6503	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.605G>C	X.37:g.47272077G>C	ENSP00000366273:p.Arg202Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R202T	ENST00000377073.3	37	c.605	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	8.191	0.795960	0.16327	.	.	ENSG00000147117	ENST00000377073	T	0.07114	3.22	3.16	-0.671	0.11381	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06826	0.0174	L	0.42632	1.34	0.09310	N	1	B	0.19073	0.033	B	0.13407	0.009	T	0.42749	-0.9433	9	0.21014	T	0.42	.	7.4056	0.26989	0.6382:0.0:0.3618:0.0	.	202	P51786	ZN157_HUMAN	T	202	ENSP00000366273:R202T	ENSP00000366273:R202T	R	+	2	0	ZNF157	47157021	0.000000	0.05858	0.001000	0.08648	0.995000	0.86356	-0.067000	0.11579	-0.320000	0.08640	0.538000	0.68166	AGA	ZNF157	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47272077	+1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	0.001	C
ZNF157	7712	genome.wustl.edu	37	X	47272385	47272385	+	Missense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chrX:47272385G>T	ENST00000377073.3	+	4	999	c.913G>T	c.(913-915)Ggg>Tgg	p.G305W		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	305					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TTATGAATGTGGGGAGTGTGG	0.418																																																	0													40.0	42.0	41.0					X																	47272385		2203	4300	6503	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.913G>T	X.37:g.47272385G>T	ENSP00000366273:p.Gly305Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G305W	ENST00000377073.3	37	c.913	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	11.38	1.622013	0.28889	.	.	ENSG00000147117	ENST00000377073	T	0.07800	3.16	2.9	-0.955	0.10356	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.13970	0.0338	M	0.72118	2.19	0.09310	N	1	P	0.46020	0.871	P	0.47626	0.552	T	0.11518	-1.0584	9	0.87932	D	0	.	7.5812	0.27965	0.6637:0.0:0.3363:0.0	.	305	P51786	ZN157_HUMAN	W	305	ENSP00000366273:G305W	ENSP00000366273:G305W	G	+	1	0	ZNF157	47157329	0.000000	0.05858	0.079000	0.20413	0.969000	0.65631	-2.065000	0.01386	-0.419000	0.07439	-0.190000	0.12839	GGG	ZNF157	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47272385	+1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	0.013	T
ZNF192P1	651302	genome.wustl.edu	37	6	28134412	28134412	+	RNA	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr6:28134412C>G	ENST00000440790.2	+	0	515					NR_103448.1				zinc finger protein 192 pseudogene 1																		AAAAGTCTCTCAGTATGAGGA	0.443																																																	0													86.0	81.0	83.0					6																	28134412		692	1591	2283			651302					6p22.1	2012-10-05	2011-08-31	2011-08-31	ENSG00000226314	ENSG00000226314			18777	pseudogene	pseudogene	"""zinc finger protein 389, pseudogene"""		"""zinc finger protein 389"""	ZNF389			Standard	NR_103448		Approved	dJ265C24.4, ZNF389P	uc021yrq.2		OTTHUMG00000014513		6.37:g.28134412C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000440790.2	37	NULL		6																																																																																			ZNF192P1	-	-		0.443	ZNF192P1-001	KNOWN	basic	processed_transcript	ZNF192P1	HGNC	pseudogene	OTTHUMT00000040181.1	C			28134412	+1	no_errors	ENST00000440790	ensembl	human	known	70_37	rna	SNP	0.002	G
ZNF197	10168	genome.wustl.edu	37	3	44683467	44683467	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:44683467G>C	ENST00000396058.1	+	5	1012	c.845G>C	c.(844-846)gGa>gCa	p.G282A	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.G282A|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	282	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TCTCATAAAGGAACATCAAAA	0.413																																																	0													54.0	50.0	51.0					3																	44683467		2203	4300	6503	SO:0001583	missense	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.845G>C	3.37:g.44683467G>C	ENSP00000379370:p.Gly282Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAH8|Q86VG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.G282A	ENST00000396058.1	37	c.845	CCDS2717.1	3	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425764	0.25639	.	.	ENSG00000186448	ENST00000536299;ENST00000344387;ENST00000396058	T;T	0.05855	3.38;3.38	4.4	3.45	0.39498	Krueppel-associated box (1);	0.000000	0.33834	N	0.004511	T	0.02610	0.0079	N	0.14661	0.345	0.25694	N	0.98565	P	0.41393	0.748	B	0.31812	0.136	T	0.41342	-0.9514	10	0.07175	T	0.84	.	9.7435	0.40433	0.0:0.2106:0.7893:0.0	.	282	O14709	ZN197_HUMAN	A	282	ENSP00000345809:G282A;ENSP00000379370:G282A	ENSP00000345809:G282A	G	+	2	0	ZNF197	44658471	0.000000	0.05858	0.977000	0.42913	0.975000	0.68041	-0.439000	0.06897	2.438000	0.82558	0.557000	0.71058	GGA	ZNF197	-	pfscan_Krueppel-associated_box		0.413	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	G	NM_006991		44683467	+1	no_errors	ENST00000344387	ensembl	human	known	70_37	missense	SNP	0.974	C
ZNF197	10168	genome.wustl.edu	37	3	44683559	44683559	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:44683559G>A	ENST00000396058.1	+	5	1104	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000344387.4_Missense_Mutation_p.E313K|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000383744.4_Intron			O14709	ZN197_HUMAN	zinc finger protein 197	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		GTGGGGAAATGAAACAGATGA	0.423																																																	0													69.0	68.0	68.0					3																	44683559		2203	4300	6503	SO:0001583	missense	10168			AF011573	CCDS2717.1, CCDS33743.1	3p21	2013-01-09	2003-10-07		ENSG00000186448	ENSG00000186448		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12988	protein-coding gene	gene with protein product			"""zinc finger protein 166"""	ZNF166		9380504, 8353497	Standard	XM_005264783		Approved	P18, D3S1363E, ZKSCAN9, ZSCAN41	uc003cnm.3	O14709	OTTHUMG00000133089	ENST00000396058.1:c.937G>A	3.37:g.44683559G>A	ENSP00000379370:p.Glu313Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAH8|Q86VG0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.E313K	ENST00000396058.1	37	c.937	CCDS2717.1	3	.	.	.	.	.	.	.	.	.	.	G	3.396	-0.123348	0.06795	.	.	ENSG00000186448	ENST00000536299;ENST00000344387;ENST00000396058	T;T	0.06218	3.33;3.33	3.71	2.83	0.33086	.	0.561893	0.13676	N	0.370526	T	0.02380	0.0073	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.46748	-0.9169	10	0.05959	T	0.93	.	2.7462	0.05268	0.1037:0.1785:0.5342:0.1836	.	313	O14709	ZN197_HUMAN	K	313	ENSP00000345809:E313K;ENSP00000379370:E313K	ENSP00000345809:E313K	E	+	1	0	ZNF197	44658563	0.027000	0.19231	0.156000	0.22583	0.580000	0.36256	1.317000	0.33631	1.143000	0.42306	0.455000	0.32223	GAA	ZNF197	-	NULL		0.423	ZNF197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF197	HGNC	protein_coding	OTTHUMT00000256747.4	G	NM_006991		44683559	+1	no_errors	ENST00000344387	ensembl	human	known	70_37	missense	SNP	0.007	A
ZNF205	7755	genome.wustl.edu	37	16	3165888	3165888	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:3165888G>C	ENST00000382192.3	+	4	535	c.330G>C	c.(328-330)caG>caC	p.Q110H	RP11-473M20.14_ENST00000575139.1_RNA|ZNF205-AS1_ENST00000572691.1_RNA|ZNF205_ENST00000219091.4_Missense_Mutation_p.Q110H|RP11-473M20.14_ENST00000576490.1_RNA	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	110					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of hydrogen peroxide biosynthetic process (GO:0010729)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						GAGACCGGCAGATGGCTGCAG	0.652																																																	0													34.0	36.0	35.0					16																	3165888		2197	4300	6497	SO:0001583	missense	7755			AF060865	CCDS10494.2	16p13.3	2013-01-08			ENSG00000122386	ENSG00000122386		"""Zinc fingers, C2H2-type"", ""-"""	12996	protein-coding gene	gene with protein product		603436		ZNF210		9787081	Standard	NM_003456		Approved	Zfp13	uc002cub.3	O95201	OTTHUMG00000148676	ENST00000382192.3:c.330G>C	16.37:g.3165888G>C	ENSP00000371627:p.Gln110His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZK0|D3DUB4|Q9BU95	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q110H	ENST00000382192.3	37	c.330	CCDS10494.2	16	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064538	0.55432	.	.	ENSG00000122386	ENST00000382192;ENST00000219091;ENST00000444510;ENST00000414351	T;T;T;T	0.49432	3.16;3.16;0.78;3.16	5.23	1.72	0.24424	.	0.164027	0.29246	N	0.012706	T	0.39306	0.1073	L	0.57536	1.79	0.23430	N	0.997696	P	0.50943	0.94	P	0.44732	0.459	T	0.24190	-1.0167	10	0.38643	T	0.18	-21.3769	3.0434	0.06146	0.3389:0.0:0.4718:0.1894	.	110	O95201	ZN205_HUMAN	H	110	ENSP00000371627:Q110H;ENSP00000219091:Q110H;ENSP00000394360:Q110H;ENSP00000403306:Q110H	ENSP00000219091:Q110H	Q	+	3	2	ZNF205	3105889	0.993000	0.37304	1.000000	0.80357	0.893000	0.52053	0.640000	0.24705	0.720000	0.32209	0.491000	0.48974	CAG	ZNF205	-	NULL		0.652	ZNF205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF205	HGNC	protein_coding	OTTHUMT00000309057.1	G	NM_003456		3165888	+1	no_errors	ENST00000219091	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF226	7769	genome.wustl.edu	37	19	44680547	44680547	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:44680547C>T	ENST00000590089.1	+	7	1499	c.1132C>T	c.(1132-1134)Ctt>Ttt	p.L378F	ZNF226_ENST00000454662.2_Missense_Mutation_p.L378F|ZNF226_ENST00000337433.5_Missense_Mutation_p.L378F|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	378					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)						Prostate(69;0.0352)|all_neural(266;0.202)				GGCCTCTCATCTTCAGGACCA	0.478																																					Pancreas(115;581 1665 13228 19278 50070)												0													70.0	76.0	74.0					19																	44680547		2181	4294	6475	SO:0001583	missense	7769			AF024707	CCDS46102.1, CCDS46103.1	19q13.31	2013-01-08	2012-09-11	2012-09-11	ENSG00000167380	ENSG00000167380		"""Zinc fingers, C2H2-type"", ""-"""	13019	protein-coding gene	gene with protein product							Standard	NM_001146220		Approved		uc002oyp.3	Q9NYT6		ENST00000590089.1:c.1132C>T	19.37:g.44680547C>T	ENSP00000465121:p.Leu378Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WWE6|Q96TE6|Q9NS44	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L378F	ENST00000590089.1	37	c.1132	CCDS46102.1	19	.	.	.	.	.	.	.	.	.	.	C	16.04	3.009620	0.54361	.	.	ENSG00000167380	ENST00000337433;ENST00000454662	T;T	0.52057	0.68;0.68	4.28	4.28	0.50868	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.29486	N	0.012001	T	0.66819	0.2828	M	0.70275	2.135	0.32950	D	0.519609	D	0.89917	1.0	D	0.97110	1.0	T	0.73688	-0.3904	10	0.39692	T	0.17	.	15.9882	0.80176	0.0:1.0:0.0:0.0	.	378	Q9NYT6	ZN226_HUMAN	F	378	ENSP00000336719:L378F;ENSP00000393265:L378F	ENSP00000336719:L378F	L	+	1	0	ZNF226	49372387	0.024000	0.19004	1.000000	0.80357	0.996000	0.88848	0.371000	0.20450	2.388000	0.81334	0.655000	0.94253	CTT	ZNF226	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.478	ZNF226-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF226	HGNC	protein_coding	OTTHUMT00000460712.1	C			44680547	+1	no_errors	ENST00000337433	ensembl	human	known	70_37	missense	SNP	0.937	T
ZNF233	353355	genome.wustl.edu	37	19	44777594	44777594	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:44777594G>C	ENST00000391958.2	+	5	908	c.781G>C	c.(781-783)Gat>Cat	p.D261H	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Missense_Mutation_p.D243H|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCAAACCTCTGATGAAAATGG	0.408																																																	0													78.0	74.0	75.0					19																	44777594		2203	4300	6503	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.781G>C	19.37:g.44777594G>C	ENSP00000375820:p.Asp261His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.D261H	ENST00000391958.2	37	c.781	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	G	8.447	0.852095	0.17034	.	.	ENSG00000159915	ENST00000334152;ENST00000391958;ENST00000280305	T;T	0.05786	3.39;3.57	3.39	-0.0877	0.13676	.	.	.	.	.	T	0.04407	0.0121	L	0.31157	0.91	0.09310	N	0.999998	B	0.02656	0.0	B	0.04013	0.001	T	0.41124	-0.9526	9	0.42905	T	0.14	-0.3493	3.4792	0.07595	0.185:0.1349:0.5429:0.1371	.	261	A6NK53	ZN233_HUMAN	H	243;261;182	ENSP00000334957:D243H;ENSP00000375820:D261H	ENSP00000280305:D182H	D	+	1	0	ZNF233	49469434	0.007000	0.16637	0.264000	0.24511	0.051000	0.14879	0.082000	0.14847	-0.032000	0.13758	-0.921000	0.02739	GAT	ZNF233	-	NULL		0.408	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	G	NM_181756		44777594	+1	no_errors	ENST00000391958	ensembl	human	known	70_37	missense	SNP	0.471	C
ZNF236	7776	genome.wustl.edu	37	18	74593360	74593360	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:74593360G>T	ENST00000253159.8	+	9	1501	c.1303G>T	c.(1303-1305)Gag>Tag	p.E435*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.E437*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	435					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CGTTTCAAATGAGCAGACGGA	0.463																																																	0													92.0	93.0	93.0					18																	74593360		1930	4156	6086	SO:0001587	stop_gained	7776			AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1303G>T	18.37:g.74593360G>T	ENSP00000253159:p.Glu435*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTX9|Q9UL37	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E435*	ENST00000253159.8	37	c.1303	CCDS42447.1	18	.	.	.	.	.	.	.	.	.	.	G	38	7.201269	0.98132	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	.	.	.	4.8	3.85	0.44370	.	0.534660	0.19296	N	0.117754	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.14656	T	0.56	.	12.5085	0.55995	0.0:0.373:0.627:0.0	.	.	.	.	X	435	.	ENSP00000253159:E435X	E	+	1	0	ZNF236	72722348	0.989000	0.36119	0.072000	0.20136	0.527000	0.34593	2.388000	0.44398	2.376000	0.81061	0.557000	0.71058	GAG	ZNF236	-	NULL		0.463	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF236	HGNC	protein_coding	OTTHUMT00000445776.1	G			74593360	+1	no_errors	ENST00000253159	ensembl	human	known	70_37	nonsense	SNP	0.942	T
ZNF260	339324	genome.wustl.edu	37	19	37005303	37005303	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:37005303C>G	ENST00000523638.1	-	3	1959	c.838G>C	c.(838-840)Gaa>Caa	p.E280Q	ZNF260_ENST00000588993.1_Missense_Mutation_p.E280Q|ZNF260_ENST00000592282.1_Missense_Mutation_p.E280Q|ZNF260_ENST00000593142.1_Missense_Mutation_p.E280Q	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	280					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					GTTCCACATTCATTACATTTG	0.373																																																	0													135.0	131.0	132.0					19																	37005303		2203	4300	6503	SO:0001583	missense	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.838G>C	19.37:g.37005303C>G	ENSP00000429803:p.Glu280Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VF43	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E280Q	ENST00000523638.1	37	c.838	CCDS33003.1	19	.	.	.	.	.	.	.	.	.	.	C	14.01	2.408999	0.42715	.	.	ENSG00000254004	ENST00000523638	T	0.07444	3.19	4.54	3.49	0.39957	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06142	0.0159	N	0.21282	0.65	0.29448	N	0.858672	B	0.30033	0.266	B	0.22601	0.04	T	0.19418	-1.0306	9	0.20519	T	0.43	.	13.8254	0.63348	0.0:0.8447:0.1553:0.0	.	280	Q3ZCT1	ZN260_HUMAN	Q	280	ENSP00000429803:E280Q	ENSP00000429803:E280Q	E	-	1	0	ZNF260	41697143	0.000000	0.05858	1.000000	0.80357	0.989000	0.77384	-0.094000	0.11094	1.233000	0.43693	0.561000	0.74099	GAA	ZNF260	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.373	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	C	NM_001012756		37005303	-1	no_errors	ENST00000523638	ensembl	human	known	70_37	missense	SNP	0.996	G
ZNF264	9422	genome.wustl.edu	37	19	57724321	57724321	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:57724321G>C	ENST00000263095.6	+	4	2270	c.1856G>C	c.(1855-1857)aGa>aCa	p.R619T	ZNF264_ENST00000536056.1_Missense_Mutation_p.R619T	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	619					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CCATACCAAAGAGAAACCCCA	0.398																																																	0													62.0	62.0	62.0					19																	57724321		2203	4300	6503	SO:0001583	missense	9422			AB007872	CCDS33127.1	19q13.4	2013-01-08				ENSG00000083844		"""Zinc fingers, C2H2-type"", ""-"""	13057	protein-coding gene	gene with protein product		604668				9455477	Standard	NM_003417		Approved	KIAA0412	uc002qob.3	O43296		ENST00000263095.6:c.1856G>C	19.37:g.57724321G>C	ENSP00000263095:p.Arg619Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8Y9|Q9P1V0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R619T	ENST00000263095.6	37	c.1856	CCDS33127.1	19	.	.	.	.	.	.	.	.	.	.	G	13.68	2.308547	0.40895	.	.	ENSG00000083844	ENST00000263095;ENST00000536056	T;T	0.05382	3.45;3.45	2.56	2.56	0.30785	.	.	.	.	.	T	0.11707	0.0285	N	0.19112	0.55	0.21553	N	0.999645	D	0.57899	0.981	D	0.67231	0.95	T	0.21348	-1.0248	9	0.72032	D	0.01	.	10.8895	0.46988	0.0:0.0:1.0:0.0	.	619	O43296	ZN264_HUMAN	T	619	ENSP00000263095:R619T;ENSP00000440376:R619T	ENSP00000263095:R619T	R	+	2	0	ZNF264	62416133	0.027000	0.19231	0.678000	0.29963	0.633000	0.38033	1.627000	0.37050	1.758000	0.51981	0.491000	0.48974	AGA	ZNF264	-	NULL		0.398	ZNF264-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF264	HGNC	protein_coding	OTTHUMT00000465080.1	G			57724321	+1	no_errors	ENST00000263095	ensembl	human	known	70_37	missense	SNP	0.637	C
ZNF267	10308	genome.wustl.edu	37	16	31926081	31926081	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:31926081C>T	ENST00000300870.10	+	4	720	c.511C>T	c.(511-513)Cat>Tat	p.H171Y		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	171					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						GGTCTTTACTCATTCATCATT	0.323																																																	0													52.0	53.0	53.0					16																	31926081		2197	4300	6497	SO:0001583	missense	10308			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.511C>T	16.37:g.31926081C>T	ENSP00000300870:p.His171Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNZ9|Q8NE41|Q9NRJ0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H171Y	ENST00000300870.10	37	c.511	CCDS32440.1	16	.	.	.	.	.	.	.	.	.	.	.	1.495	-0.553639	0.03996	.	.	ENSG00000185947	ENST00000300870;ENST00000394846	T	0.06142	3.34	0.681	-0.41	0.12374	.	.	.	.	.	T	0.02848	0.0085	L	0.34521	1.04	0.09310	N	1	P	0.35139	0.486	B	0.19946	0.027	T	0.39333	-0.9619	9	0.02654	T	1	.	4.8374	0.13471	0.0:0.7297:0.0:0.2703	.	171	Q14586	ZN267_HUMAN	Y	171;138	ENSP00000300870:H171Y	ENSP00000300870:H171Y	H	+	1	0	ZNF267	31833582	0.000000	0.05858	0.006000	0.13384	0.031000	0.12232	-2.777000	0.00775	-0.157000	0.11059	0.484000	0.47621	CAT	ZNF267	-	NULL		0.323	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	C	NM_003414		31926081	+1	no_errors	ENST00000300870	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF267	10308	genome.wustl.edu	37	16	31926596	31926596	+	Silent	SNP	C	C	T	rs141138368		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:31926596C>T	ENST00000300870.10	+	4	1235	c.1026C>T	c.(1024-1026)atC>atT	p.I342I		NM_001265588.1|NM_003414.5	NP_001252517.1|NP_003405	Q14586	ZN267_HUMAN	zinc finger protein 267	342					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.I342I(1)		breast(3)|endometrium(5)|kidney(1)|large_intestine(14)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	41						AACATCAGATCATTCCTACCG	0.358																																																	1	Substitution - coding silent(1)	skin(1)											116.0	120.0	119.0					16																	31926596		2197	4300	6497	SO:0001819	synonymous_variant	10308			X78925	CCDS32440.1	16p11.2	2013-01-08			ENSG00000185947	ENSG00000185947		"""Zinc fingers, C2H2-type"", ""-"""	13060	protein-coding gene	gene with protein product		604752				7865130	Standard	NM_003414		Approved	HZF2	uc002ecs.5	Q14586		ENST00000300870.10:c.1026C>T	16.37:g.31926596C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0JNZ9|Q8NE41|Q9NRJ0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I342	ENST00000300870.10	37	c.1026	CCDS32440.1	16																																																																																			ZNF267	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.358	ZNF267-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF267	HGNC	protein_coding	OTTHUMT00000432446.2	C	NM_003414		31926596	+1	no_errors	ENST00000300870	ensembl	human	known	70_37	silent	SNP	0.112	T
ZNF354C	30832	genome.wustl.edu	37	5	178506306	178506306	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr5:178506306G>A	ENST00000315475.6	+	5	1179	c.873G>A	c.(871-873)ctG>ctA	p.L291L		NM_014594.1	NP_055409.1	Q86Y25	Z354C_HUMAN	zinc finger protein 354C	291					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L291L(1)		endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAAACATCTGAGAGTGCATA	0.418																																																	1	Substitution - coding silent(1)	urinary_tract(1)											125.0	123.0	123.0					5																	178506306		2203	4300	6503	SO:0001819	synonymous_variant	30832				CCDS4443.1	5q35	2013-01-08			ENSG00000177932	ENSG00000177932		"""Zinc fingers, C2H2-type"", ""-"""	16736	protein-coding gene	gene with protein product						10786630	Standard	NM_014594		Approved	KID3	uc003mju.3	Q86Y25	OTTHUMG00000130888	ENST00000315475.6:c.873G>A	5.37:g.178506306G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4P9|Q8NFX1	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L291	ENST00000315475.6	37	c.873	CCDS4443.1	5																																																																																			ZNF354C	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF354C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF354C	HGNC	protein_coding	OTTHUMT00000253473.2	G			178506306	+1	no_errors	ENST00000315475	ensembl	human	known	70_37	silent	SNP	0.022	A
ZNF358	140467	genome.wustl.edu	37	19	7585260	7585260	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:7585260C>T	ENST00000597229.1	+	2	1302	c.1132C>T	c.(1132-1134)Cag>Tag	p.Q378*	MCOLN1_ENST00000264079.6_5'Flank|ZNF358_ENST00000394341.2_Nonsense_Mutation_p.Q378*|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	378					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						CTATCGCTGTCAGCTCTGCGG	0.697																																																	0													25.0	26.0	26.0					19																	7585260		2191	4283	6474	SO:0001587	stop_gained	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.1132C>T	19.37:g.7585260C>T	ENSP00000472305:p.Gln378*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTM7	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q378*	ENST00000597229.1	37	c.1132	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	C	37	6.175305	0.97348	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	.	.	.	3.97	2.94	0.34122	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	-19.8575	7.7153	0.28700	0.0:0.8862:0.0:0.1138	.	.	.	.	X	378	.	ENSP00000354703:Q378X	Q	+	1	0	ZNF358	7491260	0.000000	0.05858	1.000000	0.80357	0.966000	0.64601	0.115000	0.15540	1.274000	0.44362	0.462000	0.41574	CAG	ZNF358	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.697	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	C			7585260	+1	no_errors	ENST00000394341	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZNF37BP	100129482	genome.wustl.edu	37	10	43046052	43046052	+	RNA	SNP	G	G	A	rs564287326		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:43046052G>A	ENST00000452075.3	-	0	720					NR_026777.1				zinc finger protein 37B, pseudogene																		AGAGAAAACCGAGAGGGTGTA	0.378													G|||	1	0.000199681	0.0	0.0	5008	,	,		18094	0.0		0.001	False		,,,				2504	0.0																0																																												100129482			AK026980		10q11.21	2012-10-05	2010-08-03	2010-08-03	ENSG00000234420	ENSG00000234420			13103	pseudogene	pseudogene			"""zinc finger protein 37b (KOX 21)"", ""zinc finger protein 37B"", ""zinc finger protein 37B (pseudogene)"""	ZNF37B		2014798, 8464732	Standard	NR_026777		Approved	KOX21, FLJ23327	uc001jab.4		OTTHUMG00000018011		10.37:g.43046052G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000452075.3	37	NULL		10																																																																																			ZNF37BP	-	-		0.378	ZNF37BP-002	KNOWN	basic	processed_transcript	ZNF37BP	HGNC	pseudogene	OTTHUMT00000047675.2	G	NR_026777		43046052	-1	no_errors	ENST00000435805	ensembl	human	known	70_37	rna	SNP	0.000	A
ZNF365	22891	genome.wustl.edu	37	10	64239642	64239642	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr10:64239642C>T	ENST00000395255.3	+	5	1269	c.989C>T	c.(988-990)gCg>gTg	p.A330V	ZNF365_ENST00000410046.3_Intron	NM_199450.2	NP_955522.1	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					TAGGAGTCTGCGATTGTGGAA	0.388																																																	0													151.0	154.0	153.0					10																	64239642		2088	4224	6312	SO:0001583	missense	22891			AB020651	CCDS7264.1, CCDS7265.1, CCDS31209.1, CCDS41531.1	10q21.2	2008-10-28			ENSG00000138311	ENSG00000138311		"""Zinc fingers, C2H2-type"""	18194	protein-coding gene	gene with protein product	"""Talanin"""	607818				10048485, 12740763	Standard	NM_199450		Approved	KIAA0844, UAN	uc001jmc.2	Q70YC4	OTTHUMG00000018302	ENST00000395255.3:c.989C>T	10.37:g.64239642C>T	ENSP00000378675:p.Ala330Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.A330V	ENST00000395255.3	37	c.989	CCDS41531.1	10	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889281	0.33348	.	.	ENSG00000138311	ENST00000395255	.	.	.	4.16	2.25	0.28309	.	.	.	.	.	T	0.28699	0.0711	.	.	.	0.09310	N	1	B	0.26400	0.148	B	0.19666	0.026	T	0.25012	-1.0144	7	0.87932	D	0	.	5.1735	0.15122	0.2017:0.6929:0.0:0.1054	.	330	Q70YC5-2	.	V	330	.	ENSP00000378675:A330V	A	+	2	0	ZNF365	63909648	0.000000	0.05858	0.001000	0.08648	0.071000	0.16799	-0.781000	0.04648	0.658000	0.30925	-0.126000	0.14955	GCG	ZNF365	-	NULL		0.388	ZNF365-004	KNOWN	basic|CCDS	protein_coding	ZNF365	HGNC	protein_coding	OTTHUMT00000048240.1	C	NM_014951		64239642	+1	no_errors	ENST00000395255	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF397	84307	genome.wustl.edu	37	18	32823228	32823228	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:32823228C>T	ENST00000330501.7	+	3	680	c.527C>T	c.(526-528)tCc>tTc	p.S176F	ZNF397_ENST00000355632.4_Missense_Mutation_p.S176F|ZNF397_ENST00000592264.1_Missense_Mutation_p.S176F|ZNF397_ENST00000261333.6_Missense_Mutation_p.S176F|ZNF397_ENST00000585800.1_Missense_Mutation_p.S176F|ZNF397_ENST00000591206.1_Missense_Mutation_p.S176F|ZNF397_ENST00000589420.1_3'UTR	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	176					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CAGCTGAAATCCTGGAAACCA	0.463																																																	0													120.0	114.0	116.0					18																	32823228		2203	4300	6503	SO:0001583	missense	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.527C>T	18.37:g.32823228C>T	ENSP00000331577:p.Ser176Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BRM2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.S176F	ENST00000330501.7	37	c.527	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	C	17.68	3.449576	0.63178	.	.	ENSG00000186812	ENST00000261333;ENST00000330501;ENST00000355632	T;T;T	0.08720	4.17;3.06;4.17	4.79	2.99	0.34606	.	.	.	.	.	T	0.07908	0.0198	L	0.38175	1.15	0.31772	N	0.631989	P;B;B;B	0.50943	0.94;0.214;0.043;0.024	P;B;B;B	0.48030	0.564;0.135;0.025;0.017	T	0.04635	-1.0937	9	0.10377	T	0.69	.	6.497	0.22148	0.0:0.7869:0.0:0.2131	.	176;176;176;176	Q96K65;Q8NF99;Q8NF99-2;Q8NF99-3	.;ZN397_HUMAN;.;.	F	176	ENSP00000261333:S176F;ENSP00000331577:S176F;ENSP00000347850:S176F	ENSP00000261333:S176F	S	+	2	0	ZNF397	31077226	0.971000	0.33674	0.998000	0.56505	0.975000	0.68041	0.527000	0.22987	1.322000	0.45245	0.585000	0.79938	TCC	ZNF397	-	NULL		0.463	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	C	NM_032347		32823228	+1	no_errors	ENST00000330501	ensembl	human	known	70_37	missense	SNP	0.997	T
ZNF397	84307	genome.wustl.edu	37	18	32825269	32825270	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:32825269_32825270insT	ENST00000330501.7	+	4	753_754	c.600_601insT	c.(601-603)gaafs	p.E201fs	ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Frame_Shift_Ins_p.E201fs|ZNF397_ENST00000589420.1_3'UTR	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	201					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						GCATCTCAGAAGAAAAATCACA	0.401																																																	0																																										SO:0001589	frameshift_variant	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		Exception_encountered	18.37:g.32825269_32825270insT	ENSP00000331577:p.Glu201fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BRM2	Frame_Shift_Ins	INS	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E200fs	ENST00000330501.7	37	c.600_601	CCDS45852.1	18																																																																																			ZNF397	-	NULL		0.401	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	-	NM_032347		32825270	+1	no_errors	ENST00000330501	ensembl	human	known	70_37	frame_shift_ins	INS	0.360:0.412	T
ZNF397	84307	genome.wustl.edu	37	18	32825270	32825270	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:32825270G>T	ENST00000330501.7	+	4	754	c.601G>T	c.(601-603)Gaa>Taa	p.E201*	ZNF397_ENST00000355632.4_Intron|ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000261333.6_Nonsense_Mutation_p.E201*|ZNF397_ENST00000589420.1_3'UTR	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	201					transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						CATCTCAGAAGAAAAATCACA	0.398																																																	0													76.0	76.0	76.0					18																	32825270		2203	4300	6503	SO:0001587	stop_gained	84307			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.601G>T	18.37:g.32825270G>T	ENSP00000331577:p.Glu201*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BRM2	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.E201*	ENST00000330501.7	37	c.601	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	G	23.7	4.447757	0.84101	.	.	ENSG00000186812	ENST00000261333;ENST00000330501	.	.	.	3.56	2.58	0.30949	.	0.481848	0.15412	N	0.263725	.	.	.	.	.	.	0.24941	N	0.99186	.	.	.	.	.	.	.	.	.	.	0.18276	T	0.48	.	9.9147	0.41427	0.0:0.0:0.7966:0.2034	.	.	.	.	X	201	.	ENSP00000261333:E201X	E	+	1	0	ZNF397	31079268	0.002000	0.14202	0.823000	0.32752	0.890000	0.51754	0.862000	0.27899	1.994000	0.58287	0.289000	0.19496	GAA	ZNF397	-	NULL		0.398	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1	G	NM_032347		32825270	+1	no_errors	ENST00000330501	ensembl	human	known	70_37	nonsense	SNP	0.412	T
ZNF407	55628	genome.wustl.edu	37	18	72775637	72775637	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr18:72775637C>T	ENST00000299687.5	+	8	5960	c.5960C>T	c.(5959-5961)tCa>tTa	p.S1987L		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	1987					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGGCATCCTCAGCCCTGGAT	0.617																																																	0													15.0	19.0	18.0					18																	72775637		2088	4208	6296	SO:0001583	missense	55628			AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.5960C>T	18.37:g.72775637C>T	ENSP00000299687:p.Ser1987Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,smart_Znf_U1,pfscan_Znf_C2H2	p.S1987L	ENST00000299687.5	37	c.5960	CCDS45885.1	18	.	.	.	.	.	.	.	.	.	.	C	15.64	2.893860	0.52121	.	.	ENSG00000215421	ENST00000299687	T	0.16196	2.36	4.17	4.17	0.49024	.	.	.	.	.	T	0.41190	0.1148	M	0.64997	1.995	0.80722	D	1	D	0.76494	0.999	D	0.68765	0.96	T	0.37526	-0.9702	9	0.87932	D	0	.	16.6982	0.85341	0.0:1.0:0.0:0.0	.	1987	Q9C0G0	ZN407_HUMAN	L	1987	ENSP00000299687:S1987L	ENSP00000299687:S1987L	S	+	2	0	ZNF407	70904625	1.000000	0.71417	0.086000	0.20670	0.050000	0.14768	6.672000	0.74477	-3.459000	0.00159	0.459000	0.35465	TCA	ZNF407	-	NULL		0.617	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF407	HGNC	protein_coding	OTTHUMT00000444903.1	C	NM_017757		72775637	+1	no_errors	ENST00000299687	ensembl	human	known	70_37	missense	SNP	0.033	T
ZNF423	23090	genome.wustl.edu	37	16	49670174	49670174	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:49670174G>C	ENST00000561648.1	-	4	2942	c.2889C>G	c.(2887-2889)atC>atG	p.I963M	ZNF423_ENST00000563137.2_Missense_Mutation_p.I903M|ZNF423_ENST00000262383.2_Missense_Mutation_p.I963M|ZNF423_ENST00000562871.1_Missense_Mutation_p.I903M|ZNF423_ENST00000535559.1_Missense_Mutation_p.I846M|ZNF423_ENST00000567169.1_Missense_Mutation_p.I846M|ZNF423_ENST00000562520.1_Missense_Mutation_p.I903M	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	963					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GCTCACCACAGATGGGACACA	0.602																																																	0													68.0	52.0	57.0					16																	49670174		2198	4300	6498	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.2889C>G	16.37:g.49670174G>C	ENSP00000455426:p.Ile963Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I963M	ENST00000561648.1	37	c.2889	CCDS32445.1	16	.	.	.	.	.	.	.	.	.	.	G	13.28	2.189886	0.38707	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.18810	2.19;2.19	4.81	4.81	0.61882	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.39462	0.1079	M	0.63169	1.94	0.36263	D	0.854694	D	0.89917	1.0	D	0.91635	0.999	T	0.45731	-0.9241	9	.	.	.	-27.8772	8.8598	0.35249	0.1665:0.0:0.8335:0.0	.	963	Q2M1K9	ZN423_HUMAN	M	963;846	ENSP00000262383:I963M;ENSP00000442321:I846M	.	I	-	3	3	ZNF423	48227675	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	3.416000	0.52707	2.234000	0.73211	0.561000	0.74099	ATC	ZNF423	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF423	HGNC	protein_coding	OTTHUMT00000423258.1	G	NM_015069		49670174	-1	no_errors	ENST00000262383	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF432	9668	genome.wustl.edu	37	19	52537254	52537254	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:52537254G>A	ENST00000594154.1	-	5	1890	c.1678C>T	c.(1678-1680)Cag>Tag	p.Q560*	ZNF432_ENST00000221315.5_Nonsense_Mutation_p.Q560*			O94892	ZN432_HUMAN	zinc finger protein 432	560					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TGAATTTGCTGATGTACAATG	0.403																																																	0													106.0	100.0	102.0					19																	52537254		2203	4300	6503	SO:0001587	stop_gained	9668			AB018341	CCDS12848.1	19q13.41	2013-01-08				ENSG00000256087		"""Zinc fingers, C2H2-type"", ""-"""	20810	protein-coding gene	gene with protein product						9872452	Standard	NM_014650		Approved	KIAA0798	uc002pyk.3	O94892		ENST00000594154.1:c.1678C>T	19.37:g.52537254G>A	ENSP00000470488:p.Gln560*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q560*	ENST00000594154.1	37	c.1678	CCDS12848.1	19	.	.	.	.	.	.	.	.	.	.	G	38	6.968188	0.97971	.	.	ENSG00000256087	ENST00000221315	.	.	.	2.96	2.96	0.34315	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	8.837	0.35117	0.0:0.0:0.7754:0.2246	.	.	.	.	X	560	.	ENSP00000221315:Q560X	Q	-	1	0	ZNF432	57229066	0.191000	0.23288	0.971000	0.41717	0.886000	0.51366	0.391000	0.20784	1.664000	0.50801	0.655000	0.94253	CAG	ZNF432	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.403	ZNF432-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZNF432	HGNC	protein_coding	OTTHUMT00000462410.1	G	NM_014650		52537254	-1	no_errors	ENST00000221315	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ZNF471	57573	genome.wustl.edu	37	19	57036219	57036219	+	Silent	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:57036219C>G	ENST00000308031.5	+	5	916	c.783C>G	c.(781-783)ctC>ctG	p.L261L	ZNF471_ENST00000591537.1_Missense_Mutation_p.S121C|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	261					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GAGAGAAACTCTTTGAATGTA	0.368																																					Colon(65;957 1402 6678 10163)|Esophageal Squamous(159;2295 2541 15408 21211)												0													98.0	109.0	106.0					19																	57036219		2203	4300	6503	SO:0001819	synonymous_variant	57573			AB037817	CCDS12945.1	19q13.43	2013-01-08				ENSG00000196263		"""Zinc fingers, C2H2-type"", ""-"""	23226	protein-coding gene	gene with protein product						10718198	Standard	NM_020813		Approved	KIAA1396, Z1971	uc002qnh.3	Q9BX82		ENST00000308031.5:c.783C>G	19.37:g.57036219C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DF32|O75260|Q08AD6|Q08AD7|Q8N3V1|Q9P2F1	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.S121C	ENST00000308031.5	37	c.362	CCDS12945.1	19																																																																																			ZNF471	-	NULL		0.368	ZNF471-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF471	HGNC	protein_coding	OTTHUMT00000458405.1	C	NM_020813		57036219	+1	no_errors	ENST00000591537	ensembl	human	putative	70_37	missense	SNP	0.895	G
ZNF510	22869	genome.wustl.edu	37	9	99525475	99525475	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr9:99525475C>G	ENST00000375231.1	-	5	927	c.277G>C	c.(277-279)Gag>Cag	p.E93Q	ZNF510_ENST00000472201.1_5'UTR|ZNF510_ENST00000223428.4_Missense_Mutation_p.E93Q			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	93	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				AAGATCACCTCTGGTTTGAAA	0.423																																																	0													137.0	139.0	139.0					9																	99525475		2203	4300	6503	SO:0001583	missense	22869			AB023189	CCDS35074.1	9q22.33	2013-01-08			ENSG00000081386	ENSG00000081386		"""Zinc fingers, C2H2-type"", ""-"""	29161	protein-coding gene	gene with protein product						10231032	Standard	XM_005251807		Approved	KIAA0972	uc004awn.1	Q9Y2H8	OTTHUMG00000020303	ENST00000375231.1:c.277G>C	9.37:g.99525475C>G	ENSP00000364379:p.Glu93Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SZP5	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E93Q	ENST00000375231.1	37	c.277	CCDS35074.1	9	.	.	.	.	.	.	.	.	.	.	c	9.992	1.231078	0.22626	.	.	ENSG00000081386	ENST00000375231;ENST00000223428;ENST00000374641	T;T;T	0.51071	0.72;0.72;0.72	3.3	2.4	0.29515	Krueppel-associated box (3);	.	.	.	.	T	0.39886	0.1095	M	0.67625	2.065	0.09310	N	1	P	0.37781	0.608	B	0.29862	0.108	T	0.38520	-0.9657	9	0.72032	D	0.01	.	6.5687	0.22527	0.0:0.8678:0.0:0.1322	.	93	Q9Y2H8	ZN510_HUMAN	Q	93	ENSP00000364379:E93Q;ENSP00000223428:E93Q;ENSP00000363772:E93Q	ENSP00000223428:E93Q	E	-	1	0	ZNF510	98565296	0.003000	0.15002	0.005000	0.12908	0.011000	0.07611	1.099000	0.31013	0.968000	0.38212	-0.140000	0.14226	GAG	ZNF510	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.423	ZNF510-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF510	HGNC	protein_coding	OTTHUMT00000053287.1	C	NM_014930		99525475	-1	no_errors	ENST00000223428	ensembl	human	known	70_37	missense	SNP	0.005	G
ZNF514	84874	genome.wustl.edu	37	2	95815401	95815401	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr2:95815401G>A	ENST00000295208.2	-	5	1291	c.829C>T	c.(829-831)Ctg>Ttg	p.L277L	MRPS5_ENST00000475040.1_5'Flank|ZNF514_ENST00000411425.1_Silent_p.L277L	NM_032788.1	NP_116177.1	Q96K75	ZN514_HUMAN	zinc finger protein 514	277					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(4)|lung(6)|urinary_tract(1)	11						CTATAGTGCAGAACAAGAGAC	0.418																																																	0													75.0	82.0	80.0					2																	95815401		2203	4300	6503	SO:0001819	synonymous_variant	84874			AL832263	CCDS2011.1	2q11.2	2013-01-08			ENSG00000144026	ENSG00000144026		"""Zinc fingers, C2H2-type"", ""-"""	25894	protein-coding gene	gene with protein product							Standard	NM_032788		Approved	FLJ14457	uc002sue.1	Q96K75	OTTHUMG00000130391	ENST00000295208.2:c.829C>T	2.37:g.95815401G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JPJ3	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L277	ENST00000295208.2	37	c.829	CCDS2011.1	2																																																																																			ZNF514	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF514-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF514	HGNC	protein_coding	OTTHUMT00000252769.1	G	NM_032788		95815401	-1	no_errors	ENST00000295208	ensembl	human	known	70_37	silent	SNP	0.001	A
ZNF569	148266	genome.wustl.edu	37	19	37904285	37904285	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:37904285G>A	ENST00000316950.6	-	6	1832	c.1275C>T	c.(1273-1275)ttC>ttT	p.F425F	ZNF569_ENST00000392150.2_Silent_p.F266F|ZNF569_ENST00000392149.2_Silent_p.F425F	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	425					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGTGTGTAATGAAGTTTTTCT	0.383																																																	0													112.0	104.0	107.0					19																	37904285		2203	4300	6503	SO:0001819	synonymous_variant	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.1275C>T	19.37:g.37904285G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.F425	ENST00000316950.6	37	c.1275	CCDS12503.1	19																																																																																			ZNF569	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF569	HGNC	protein_coding	OTTHUMT00000109594.2	G	NM_152484		37904285	-1	no_errors	ENST00000316950	ensembl	human	known	70_37	silent	SNP	0.001	A
ZNF615	284370	genome.wustl.edu	37	19	52496531	52496531	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:52496531C>G	ENST00000602063.1	-	6	2147	c.1798G>C	c.(1798-1800)Gaa>Caa	p.E600Q	ZNF615_ENST00000391795.3_Missense_Mutation_p.E605Q|ZNF615_ENST00000598071.1_Missense_Mutation_p.E611Q|ZNF615_ENST00000376716.5_Missense_Mutation_p.E600Q|ZNF615_ENST00000594083.1_Missense_Mutation_p.E611Q			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	600					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TTTCCACATTCATTGCATATA	0.413																																																	0													117.0	109.0	112.0					19																	52496531		2203	4300	6503	SO:0001583	missense	284370			AK096691	CCDS12846.1, CCDS59418.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	24740	protein-coding gene	gene with protein product						12477932	Standard	NM_001199324		Approved	FLJ33710	uc002pyf.2	Q8N8J6		ENST00000602063.1:c.1798G>C	19.37:g.52496531C>G	ENSP00000473089:p.Glu600Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKW9|Q2M2Y6|Q5CZB0|Q6ZMT7|Q6ZRB3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E611Q	ENST00000602063.1	37	c.1831	CCDS12846.1	19	.	.	.	.	.	.	.	.	.	.	C	10.92	1.487804	0.26686	.	.	ENSG00000197619	ENST00000376716;ENST00000354939;ENST00000391795;ENST00000391793	T;T	0.35789	1.29;1.29	3.23	0.82	0.18793	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20820	0.0501	N	0.12920	0.275	0.09310	N	1	P;P;P;P	0.49090	0.919;0.9;0.9;0.919	B;B;B;B	0.42995	0.404;0.282;0.282;0.404	T	0.10590	-1.0623	9	0.34782	T	0.22	.	7.7386	0.28829	0.0:0.7302:0.165:0.1048	.	605;607;611;600	B4DH87;Q8N8J6-3;Q8N8J6-2;Q8N8J6	.;.;.;ZN615_HUMAN	Q	600;610;605;554	ENSP00000365906:E600Q;ENSP00000375672:E605Q	ENSP00000347019:E610Q	E	-	1	0	ZNF615	57188343	0.000000	0.05858	0.359000	0.25824	0.987000	0.75469	-0.018000	0.12568	0.698000	0.31739	-0.123000	0.14984	GAA	ZNF615	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF615-009	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZNF615	HGNC	protein_coding	OTTHUMT00000462391.1	C	NM_198480		52496531	-1	no_errors	ENST00000594083	ensembl	human	known	70_37	missense	SNP	0.001	G
ZNF578	147660	genome.wustl.edu	37	19	53014312	53014312	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:53014312G>A	ENST00000421239.2	+	6	922	c.678G>A	c.(676-678)atG>atA	p.M226I	CTD-3099C6.5_ENST00000599143.1_RNA	NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	226					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AAGTACACATGAGAGAAAAAT	0.333																																																	0													67.0	69.0	68.0					19																	53014312		2201	4300	6501	SO:0001583	missense	147660			AK095562	CCDS54310.1	19q13.41	2013-09-20			ENSG00000258405	ENSG00000258405		"""Zinc fingers, C2H2-type"", ""-"""	26449	protein-coding gene	gene with protein product							Standard	NM_001099694		Approved	FLJ31384	uc002pzp.4	Q96N58	OTTHUMG00000156468	ENST00000421239.2:c.678G>A	19.37:g.53014312G>A	ENSP00000459216:p.Met226Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DR51|I3L1Y6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M226I	ENST00000421239.2	37	c.678	CCDS54310.1	19	.	.	.	.	.	.	.	.	.	.	-	0.295	-0.977588	0.02197	.	.	ENSG00000258405	ENST00000553364	.	.	.	1.3	0.0277	0.14156	.	.	.	.	.	T	0.17492	0.0420	.	.	.	0.09310	N	1	B	0.24368	0.102	B	0.18561	0.022	T	0.22591	-1.0212	6	.	.	.	.	2.3584	0.04301	0.4181:0.0:0.2454:0.3365	.	226	G3V4F6	.	I	226	.	.	M	+	3	0	ZNF578	57706124	0.000000	0.05858	0.007000	0.13788	0.571000	0.35966	-0.913000	0.04042	-0.208000	0.10171	0.297000	0.19635	ATG	ZNF578	-	NULL		0.333	ZNF578-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	ZNF578	HGNC	protein_coding	OTTHUMT00000344298.3	G	NM_152472		53014312	+1	no_errors	ENST00000421239	ensembl	human	known	70_37	missense	SNP	0.145	A
ZNF620	253639	genome.wustl.edu	37	3	40557890	40557890	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr3:40557890C>T	ENST00000314529.6	+	5	954	c.805C>T	c.(805-807)Cag>Tag	p.Q269*	ZNF620_ENST00000418905.1_Nonsense_Mutation_p.Q155*	NM_175888.3	NP_787084.1	Q6ZNG0	ZN620_HUMAN	zinc finger protein 620	269					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(1)|urinary_tract(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		AGCCTTGATTCAGCATCAGAG	0.428																																																	0													62.0	65.0	64.0					3																	40557890		2203	4300	6503	SO:0001587	stop_gained	253639			AK093599	CCDS33740.1, CCDS58825.1	3p21.33	2013-01-08			ENSG00000177842	ENSG00000177842		"""Zinc fingers, C2H2-type"", ""-"""	28742	protein-coding gene	gene with protein product						12477932	Standard	NM_175888		Approved	MGC50836	uc003ckk.4	Q6ZNG0	OTTHUMG00000156044	ENST00000314529.6:c.805C>T	3.37:g.40557890C>T	ENSP00000322265:p.Gln269*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N223	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q269*	ENST00000314529.6	37	c.805	CCDS33740.1	3	.	.	.	.	.	.	.	.	.	.	C	10.75	1.437959	0.25900	.	.	ENSG00000177842	ENST00000314529;ENST00000418905	.	.	.	2.83	-0.627	0.11541	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	5.4006	0.16293	0.3606:0.2837:0.3556:0.0	.	.	.	.	X	269;155	.	.	Q	+	1	0	ZNF620	40532894	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	-7.644000	0.00032	0.063000	0.16370	-0.293000	0.09583	CAG	ZNF620	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF620-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF620	HGNC	protein_coding	OTTHUMT00000342824.1	C	XM_171060		40557890	+1	no_errors	ENST00000314529	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ZNF628	89887	genome.wustl.edu	37	19	55994438	55994438	+	Silent	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:55994438C>A	ENST00000598519.1	+	3	2431	c.1878C>A	c.(1876-1878)atC>atA	p.I626I	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Silent_p.I622I|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	626					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CCTGCCCCATCTGCGGTCGCG	0.711																																																	0													24.0	26.0	25.0					19																	55994438		2201	4295	6496	SO:0001819	synonymous_variant	89887			AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.1878C>A	19.37:g.55994438C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86X34	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.I626	ENST00000598519.1	37	c.1878	CCDS33116.3	19																																																																																			ZNF628	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.711	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF628	HGNC	protein_coding	OTTHUMT00000317934.2	C	XM_058964		55994438	+1	no_errors	ENST00000598519	ensembl	human	known	70_37	silent	SNP	0.235	A
ZNF646	9726	genome.wustl.edu	37	16	31092656	31092656	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr16:31092656G>A	ENST00000394979.2	+	1	5434	c.5011G>A	c.(5011-5013)Gag>Aag	p.E1671K	ZNF646_ENST00000300850.5_Missense_Mutation_p.E1671K			O15015	ZN646_HUMAN	zinc finger protein 646	1671					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CATGGCGGCTGAGGACAAGGA	0.652																																																	0													68.0	78.0	75.0					16																	31092656		2197	4299	6496	SO:0001583	missense	9726			AB002294	CCDS10702.1	16p11.2	2013-01-08			ENSG00000167395	ENSG00000167395		"""Zinc fingers, C2H2-type"""	29004	protein-coding gene	gene with protein product							Standard	NM_014699		Approved	KIAA0296	uc002eap.3	O15015	OTTHUMG00000047355	ENST00000394979.2:c.5011G>A	16.37:g.31092656G>A	ENSP00000378429:p.Glu1671Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVD8	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.E1671K	ENST00000394979.2	37	c.5011		16	.	.	.	.	.	.	.	.	.	.	G	8.437	0.849944	0.17034	.	.	ENSG00000167395	ENST00000300850;ENST00000394979	T;T	0.08458	3.09;3.11	5.8	4.66	0.58398	.	.	.	.	.	T	0.06962	0.0177	L	0.29908	0.895	0.09310	N	0.999999	B	0.21520	0.057	B	0.16289	0.015	T	0.13899	-1.0492	9	0.45353	T	0.12	-1.3315	8.284	0.31917	0.093:0.1625:0.7445:0.0	.	1671	O15015-2	.	K	1671	ENSP00000300850:E1671K;ENSP00000378429:E1671K	ENSP00000300850:E1671K	E	+	1	0	ZNF646	31000157	0.011000	0.17503	0.947000	0.38551	0.266000	0.26442	1.440000	0.35024	2.755000	0.94549	0.655000	0.94253	GAG	ZNF646	-	NULL		0.652	ZNF646-003	KNOWN	basic	protein_coding	ZNF646	HGNC	protein_coding	OTTHUMT00000108510.2	G	NM_014699		31092656	+1	no_errors	ENST00000300850	ensembl	human	known	70_37	missense	SNP	0.155	A
ZNF677	342926	genome.wustl.edu	37	19	53754791	53754791	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:53754791G>C	ENST00000598513.1	-	3	163	c.13C>G	c.(13-15)Cag>Gag	p.Q5E	ZNF677_ENST00000599012.1_Missense_Mutation_p.Q5E|ZNF677_ENST00000594681.1_Missense_Mutation_p.Q5E|ZNF677_ENST00000601828.1_Missense_Mutation_p.Q5E|ZNF677_ENST00000595293.1_5'UTR|ZNF677_ENST00000598806.1_Missense_Mutation_p.Q5E|ZNF677_ENST00000333952.4_Missense_Mutation_p.Q5E|ZNF677_ENST00000601413.1_Missense_Mutation_p.Q5E	NM_182609.2	NP_872415.1	Q86XU0	ZN677_HUMAN	zinc finger protein 677	5					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		ACTTTTACCTGAGAAAGAGCC	0.373																																																	0													147.0	122.0	130.0					19																	53754791		2203	4300	6503	SO:0001583	missense	342926			BC050038	CCDS12861.1	19q13.42	2013-01-08				ENSG00000197928		"""Zinc fingers, C2H2-type"", ""-"""	28730	protein-coding gene	gene with protein product	"""hypothetical protein MGC48625"""					12477932	Standard	NM_182609		Approved	MGC48625	uc002qbg.1	Q86XU0		ENST00000598513.1:c.13C>G	19.37:g.53754791G>C	ENSP00000469391:p.Gln5Glu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q5E	ENST00000598513.1	37	c.13	CCDS12861.1	19	.	.	.	.	.	.	.	.	.	.	G	4.076	0.012010	0.07912	.	.	ENSG00000197928	ENST00000416063;ENST00000333952	T	0.00940	5.52	2.87	-0.797	0.10909	Krueppel-associated box (1);	.	.	.	.	T	0.01254	0.0041	M	0.73319	2.225	0.09310	N	1	B	0.20887	0.049	B	0.10450	0.005	T	0.47407	-0.9120	9	0.72032	D	0.01	.	1.0638	0.01606	0.1454:0.2333:0.383:0.2382	.	5	Q86XU0	ZN677_HUMAN	E	5	ENSP00000334394:Q5E	ENSP00000334394:Q5E	Q	-	1	0	ZNF677	58446603	0.026000	0.19158	0.190000	0.23270	0.113000	0.19764	-0.162000	0.10012	0.045000	0.15804	0.557000	0.71058	CAG	ZNF677	-	superfamily_Krueppel-associated_box		0.373	ZNF677-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF677	HGNC	protein_coding	OTTHUMT00000464189.1	G	NM_182609		53754791	-1	no_errors	ENST00000333952	ensembl	human	known	70_37	missense	SNP	0.154	C
ZNF695	57116	genome.wustl.edu	37	1	247163260	247163260	+	Silent	SNP	C	C	T	rs376791555		TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr1:247163260C>T	ENST00000339986.7	-	2	267	c.120G>A	c.(118-120)ctG>ctA	p.L40L	ZNF695_ENST00000487338.2_Silent_p.L40L|ZNF695_ENST00000498046.2_Intron	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	40	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.L40L(1)		endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CAAGGGAGATCAGGTTTCTGT	0.433																																																	1	Substitution - coding silent(1)	lung(1)											72.0	78.0	76.0					1																	247163260		2194	4295	6489	SO:0001819	synonymous_variant	57116				CCDS44344.1, CCDS55694.1	1q44	2013-01-08			ENSG00000197472	ENSG00000197472		"""Zinc fingers, C2H2-type"", ""-"""	30954	protein-coding gene	gene with protein product						12477932	Standard	NM_020394		Approved	SBZF3	uc009xgu.3	Q8IW36	OTTHUMG00000040707	ENST00000339986.7:c.120G>A	1.37:g.247163260C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T0N9|Q5T0P1|Q5T0P3|Q7Z2W8|Q7Z648	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L40	ENST00000339986.7	37	c.120	CCDS44344.1	1																																																																																			ZNF695	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.433	ZNF695-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF695	HGNC	protein_coding	OTTHUMT00000097823.5	C	NM_020394		247163260	-1	no_errors	ENST00000339986	ensembl	human	known	70_37	silent	SNP	0.677	T
ZNF724P	440519	genome.wustl.edu	37	19	23405575	23405575	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:23405575G>A	ENST00000418100.1	-	4	1589	c.1472C>T	c.(1471-1473)tCa>tTa	p.S491L				A8MTY0	ZN724_HUMAN	zinc finger protein 724, pseudogene	491					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(1)|lung(2)|ovary(2)	8						TGTAAGGTGTGAGGATAGGTT	0.383																																																	0																																										SO:0001583	missense	440519					19p12	2014-02-14	2010-08-03		ENSG00000196081	ENSG00000196081			32460	pseudogene	pseudogene			"""zinc finger protein 724 pseudogene"", ""zinc finger protein 724 (pseudogene)"""				Standard	NR_045525		Approved		uc021uru.1	A8MTY0	OTTHUMG00000183231	ENST00000418100.1:c.1472C>T	19.37:g.23405575G>A	ENSP00000413411:p.Ser491Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S491L	ENST00000418100.1	37	c.1472		19	.	.	.	.	.	.	.	.	.	.	G	4.959	0.178230	0.09443	.	.	ENSG00000196081	ENST00000418100	T	0.07444	3.19	1.08	-0.787	0.10943	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14141	0.0342	.	.	.	0.09310	N	1	D	0.76494	0.999	P	0.54270	0.747	T	0.19549	-1.0302	8	0.59425	D	0.04	.	7.8	0.29168	0.0:0.2599:0.7401:0.0	.	491	A8MTY0	ZN724_HUMAN	L	491	ENSP00000413411:S491L	ENSP00000413411:S491L	S	-	2	0	ZNF724P	23197415	0.000000	0.05858	0.010000	0.14722	0.009000	0.06853	0.210000	0.17455	0.482000	0.27582	0.484000	0.47621	TCA	ZNF724P	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.383	ZNF724P-001	NOVEL	basic|appris_principal	protein_coding	ZNF724P	HGNC	protein_coding	OTTHUMT00000465743.1	G			23405575	-1	no_errors	ENST00000418100	ensembl	human	novel	70_37	missense	SNP	0.000	A
ZNF71	58491	genome.wustl.edu	37	19	57134007	57134007	+	Missense_Mutation	SNP	C	C	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:57134007C>A	ENST00000328070.6	+	3	1586	c.1352C>A	c.(1351-1353)tCc>tAc	p.S451Y		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	451					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		ATCAAGAACTCCTCCCTCACT	0.642																																																	0													77.0	65.0	69.0					19																	57134007		2203	4300	6503	SO:0001583	missense	58491			X60074	CCDS12947.1	19q13.4	2013-01-08	2006-05-12			ENSG00000197951		"""Zinc fingers, C2H2-type"""	13141	protein-coding gene	gene with protein product		194545	"""zinc finger protein 71 (Cos26)"""			1639391	Standard	NM_021216		Approved	Cos26, EZFIT	uc002qnm.4	Q9NQZ8		ENST00000328070.6:c.1352C>A	19.37:g.57134007C>A	ENSP00000328245:p.Ser451Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15919|Q9UC09|Q9UQD3	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S451Y	ENST00000328070.6	37	c.1352	CCDS12947.1	19	.	.	.	.	.	.	.	.	.	.	C	11.85	1.761331	0.31228	.	.	ENSG00000197951	ENST00000328070	T	0.08193	3.12	3.97	2.94	0.34122	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14227	0.0344	M	0.81497	2.545	0.09310	N	1	P	0.42620	0.785	B	0.41691	0.364	T	0.09552	-1.0669	9	0.62326	D	0.03	.	8.669	0.34138	0.0:0.8906:0.0:0.1094	.	451	Q9NQZ8	ZNF71_HUMAN	Y	451	ENSP00000328245:S451Y	ENSP00000328245:S451Y	S	+	2	0	ZNF71	61825819	0.000000	0.05858	0.980000	0.43619	0.371000	0.29859	0.031000	0.13710	0.888000	0.36160	0.561000	0.74099	TCC	ZNF71	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.642	ZNF71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF71	HGNC	protein_coding	OTTHUMT00000459798.2	C	NM_021216		57134007	+1	no_errors	ENST00000328070	ensembl	human	known	70_37	missense	SNP	0.001	A
ZNF727	442319	genome.wustl.edu	37	7	63538876	63538876	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr7:63538876G>C	ENST00000550760.3	+	4	1628	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N	RP11-3N2.13_ENST00000445978.1_RNA	NM_001159522.1	NP_001152994.1	A8MUV8	ZN727_HUMAN	zinc finger protein 727	483					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|skin(1)|stomach(1)|urinary_tract(1)	8						CAAGTGCAAAGAATGTGGCAA	0.388																																																	0													53.0	49.0	50.0					7																	63538876		692	1591	2283	SO:0001583	missense	442319					7q11.21	2014-09-09	2014-09-09	2014-09-09	ENSG00000214652	ENSG00000214652		"""Zinc fingers, C2H2-type"", ""-"""	22785	pseudogene	pseudogene			"""zinc finger protein 727, pseudogene"""	ZNF727P			Standard	NM_001159522		Approved		uc011kdm.2	A8MUV8	OTTHUMG00000156536	ENST00000550760.3:c.1449G>C	7.37:g.63538876G>C	ENSP00000447987:p.Lys483Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K483N	ENST00000550760.3	37	c.1449	CCDS55113.1	7	.	.	.	.	.	.	.	.	.	.	G	3.611	-0.079570	0.07141	.	.	ENSG00000257482	ENST00000550760	T	0.01005	5.45	0.988	0.988	0.19796	.	.	.	.	.	T	0.00580	0.0019	N	0.08118	0	0.09310	N	1	B	0.28350	0.208	B	0.11329	0.006	T	0.47586	-0.9106	8	.	.	.	.	7.4067	0.26995	0.0:0.0:1.0:0.0	.	483	A8MUV8	ZN727_HUMAN	N	483	ENSP00000447987:K483N	.	K	+	3	2	ZNF727	63176311	0.000000	0.05858	0.089000	0.20774	0.086000	0.17979	-0.102000	0.10956	0.430000	0.26230	0.430000	0.28490	AAG	ZNF727	-	NULL		0.388	ZNF727-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF727	HGNC	protein_coding		G	NM_001159522		63538876	+1	no_errors	ENST00000550760	ensembl	human	known	70_37	missense	SNP	0.069	C
ZNF799	90576	genome.wustl.edu	37	19	12502923	12502923	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:12502923G>A	ENST00000430385.3	-	4	489	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.L97F|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000419318.1_Missense_Mutation_p.L65F	NM_001080821.2	NP_001074290.1	Q96GE5	ZN799_HUMAN	zinc finger protein 799	97					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ACTCCAGGAAGAGTGTTCTTG	0.418																																																	0													113.0	106.0	108.0					19																	12502923		2203	4300	6503	SO:0001583	missense	90576			BC009517	CCDS45989.1	19p13.2	2013-01-08			ENSG00000196466	ENSG00000196466		"""Zinc fingers, C2H2-type"", ""-"""	28071	protein-coding gene	gene with protein product			"""zinc finger protein 842"""	ZNF842			Standard	NM_001080821		Approved	HIT-40, MGC71805	uc002mts.4	Q96GE5	OTTHUMG00000156408	ENST00000430385.3:c.289C>T	19.37:g.12502923G>A	ENSP00000411084:p.Leu97Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L97F	ENST00000430385.3	37	c.289	CCDS45989.1	19	.	.	.	.	.	.	.	.	.	.	G	1.508	-0.550298	0.03996	.	.	ENSG00000196466	ENST00000419318;ENST00000430385	T;T	0.08370	3.1;3.23	0.846	-1.64	0.08318	.	.	.	.	.	T	0.04363	0.0120	N	0.08118	0	0.09310	N	1	P	0.46706	0.883	B	0.44044	0.439	T	0.32107	-0.9919	9	0.59425	D	0.04	.	4.0492	0.09786	0.5005:0.0:0.4995:0.0	.	97	Q96GE5	ZN799_HUMAN	F	65;97	ENSP00000415278:L65F;ENSP00000411084:L97F	ENSP00000415278:L65F	L	-	1	0	ZNF799	12363923	0.000000	0.05858	0.001000	0.08648	0.010000	0.07245	-2.949000	0.00679	-0.654000	0.05394	0.195000	0.17529	CTT	ZNF799	-	NULL		0.418	ZNF799-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF799	HGNC	protein_coding	OTTHUMT00000344099.2	G	NM_001080821		12502923	-1	no_errors	ENST00000430385	ensembl	human	known	70_37	missense	SNP	0.001	A
ZNF761	388561	genome.wustl.edu	37	19	53960251	53960251	+	RNA	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:53960251G>A	ENST00000454407.1	+	0	2943							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAAATGTAAGAGTTTGTGAC	0.413																																																	0																																												388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53960251G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.413	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		G	NM_001008401		53960251	+1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.051	A
ZNF749	388567	genome.wustl.edu	37	19	57954952	57954952	+	Missense_Mutation	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:57954952C>T	ENST00000334181.4	+	3	686	c.436C>T	c.(436-438)Cac>Tac	p.H146Y	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	146					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CCACAGTGCTCACGTGGGAGA	0.517																																																	0													135.0	115.0	122.0					19																	57954952		2203	4300	6503	SO:0001583	missense	388567			AK122740	CCDS33132.2	19q13.43	2013-01-08			ENSG00000186230	ENSG00000186230		"""Zinc fingers, C2H2-type"", ""-"""	32783	protein-coding gene	gene with protein product							Standard	NM_001023561		Approved	FLJ16360	uc002qoq.2	O43361	OTTHUMG00000150372	ENST00000334181.4:c.436C>T	19.37:g.57954952C>T	ENSP00000333980:p.His146Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.H146Y	ENST00000334181.4	37	c.436	CCDS33132.2	19	.	.	.	.	.	.	.	.	.	.	C	12.68	2.011967	0.35511	.	.	ENSG00000186230	ENST00000334181;ENST00000415248	T;T	0.46063	4.1;0.88	2.07	1.01	0.19927	.	.	.	.	.	T	0.43344	0.1243	M	0.88450	2.955	0.09310	N	1	B	0.26081	0.141	B	0.17722	0.019	T	0.43829	-0.9367	9	0.44086	T	0.13	.	4.2453	0.10669	0.0:0.6485:0.0:0.3515	.	146	O43361	ZN749_HUMAN	Y	146;59	ENSP00000333980:H146Y;ENSP00000397745:H59Y	ENSP00000333980:H146Y	H	+	1	0	ZNF749	62646764	0.000000	0.05858	0.010000	0.14722	0.037000	0.13140	0.162000	0.16501	0.427000	0.26145	0.313000	0.20887	CAC	ZNF749	-	NULL		0.517	ZNF749-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF749	HGNC	protein_coding	OTTHUMT00000317879.1	C	NM_001023561		57954952	+1	no_errors	ENST00000334181	ensembl	human	known	70_37	missense	SNP	0.001	T
ZNF826P	664701	genome.wustl.edu	37	19	20607687	20607687	+	RNA	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:20607687G>C	ENST00000502675.1	-	0	75					NR_036455.1		Q6ZT77	ZN826_HUMAN	zinc finger protein 826, pseudogene						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			large_intestine(4)	4						TATGAGCAGAGAACACAGAGC	0.572																																																	0																																												664701			BC016785		19p12	2010-08-03	2010-08-03	2010-08-03	ENSG00000231205	ENSG00000231205			33875	pseudogene	pseudogene			"""zinc finger protein 826"""	ZNF826			Standard	NR_036455		Approved	FLJ44894	uc021urn.2	Q6ZT77	OTTHUMG00000162773		19.37:g.20607687G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000502675.1	37	NULL		19																																																																																			ZNF826P	-	-		0.572	ZNF826P-001	KNOWN	basic	processed_transcript	ZNF826P	HGNC	pseudogene	OTTHUMT00000370365.1	G	NM_001039884		20607687	-1	no_errors	ENST00000502675	ensembl	human	known	70_37	rna	SNP	0.000	C
ZNF85	7639	genome.wustl.edu	37	19	21117813	21117813	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:21117813G>C	ENST00000328178.8	+	3	302	c.189G>C	c.(187-189)tgG>tgC	p.W63C	ZNF85_ENST00000300540.3_Missense_Mutation_p.W63C|ZNF85_ENST00000601023.1_5'Flank|ZNF85_ENST00000596476.1_Missense_Mutation_p.W31C|ZNF85_ENST00000345030.6_Intron|ZNF85_ENST00000597314.1_Missense_Mutation_p.E58Q	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	63	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						AAGAGGCCTGGAGTATGAAGA	0.403																																																	0													60.0	58.0	59.0					19																	21117813		2203	4300	6503	SO:0001583	missense	7639			U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.189G>C	19.37:g.21117813G>C	ENSP00000329793:p.Trp63Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVP4|Q6NVI0	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.W63C	ENST00000328178.8	37	c.189	CCDS32977.1	19	.	.	.	.	.	.	.	.	.	.	.	2.328	-0.354087	0.05173	.	.	ENSG00000105750	ENST00000328178;ENST00000300540	T;T	0.07444	3.19;5.31	1.05	1.05	0.20165	Krueppel-associated box (2);	.	.	.	.	T	0.15262	0.0368	M	0.71206	2.165	0.19575	N	0.999961	D	0.58970	0.984	P	0.52217	0.693	T	0.11084	-1.0602	9	0.54805	T	0.06	.	5.3055	0.15801	0.0:0.0:1.0:0.0	.	63	Q03923	ZNF85_HUMAN	C	63	ENSP00000329793:W63C;ENSP00000300540:W63C	ENSP00000300540:W63C	W	+	3	0	ZNF85	20909653	0.251000	0.23961	0.006000	0.13384	0.005000	0.04900	0.881000	0.28173	0.459000	0.27016	0.462000	0.41574	TGG	ZNF85	-	smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.403	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF85	HGNC	protein_coding	OTTHUMT00000463430.1	G	NM_003429		21117813	+1	no_errors	ENST00000328178	ensembl	human	known	70_37	missense	SNP	0.013	C
ZNF98	148198	genome.wustl.edu	37	19	22715225	22715225	+	5'UTR	SNP	C	C	T			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:22715225C>T	ENST00000599879.1	-	0	62				CTC-457E21.2_ENST00000598832.1_lincRNA			A6NK75	ZNF98_HUMAN	zinc finger protein 98						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37		all_cancers(12;0.0536)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00542)|Hepatocellular(1079;0.244)				GGGGCCACGTCAGCTAGATTG	0.567																																																	0																																										SO:0001623	5_prime_UTR_variant	148198				CCDS46031.1	19p12	2014-02-14	2010-04-20	2008-06-12	ENSG00000197360	ENSG00000197360		"""Zinc fingers, C2H2-type"", ""-"""	13174	protein-coding gene	gene with protein product	"""zinc finger protein 739"""	603980					Standard	NM_001098626		Approved	ZNF739, F7175	uc002nqt.2	A6NK75	OTTHUMG00000182940	ENST00000599879.1:c.-430G>A	19.37:g.22715225C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000599879.1	37	NULL		19																																																																																			ZNF98	-	-		0.567	ZNF98-005	PUTATIVE	basic	processed_transcript	ZNF98	HGNC	protein_coding	OTTHUMT00000464565.1	C	NM_001098626		22715225	-1	no_errors	ENST00000599879	ensembl	human	putative	70_37	rna	SNP	0.005	T
ZNF850	342892	genome.wustl.edu	37	19	37239538	37239538	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:37239538G>A	ENST00000591344.1	-	5	2562	c.2404C>T	c.(2404-2406)Caa>Taa	p.Q802*	ZNF850_ENST00000589390.1_Intron	NM_001193552.1|NM_001267779.1	NP_001180481.1|NP_001254708.1	A8MQ14	ZN850_HUMAN	zinc finger protein 850	802					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GGCTGATGTTGAATTAGTGTT	0.393																																																	0																																										SO:0001587	stop_gained	342892			BC052603	CCDS59379.1, CCDS74350.1	19q13.12	2013-01-08	2010-08-02	2010-08-02		ENSG00000267041		"""Zinc fingers, C2H2-type"", ""-"""	27994	protein-coding gene	gene with protein product			"""zinc finger protein 850 pseudogene"", ""zinc finger protein 850 (pseudogene)"""	ZNF850P		12477932	Standard	NM_001193552		Approved		uc010efc.3	A8MQ14		ENST00000591344.1:c.2404C>T	19.37:g.37239538G>A	ENSP00000464976:p.Gln802*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q802*	ENST00000591344.1	37	c.2404	CCDS59379.1	19																																																																																			ZNF850	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.393	ZNF850-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF850	HGNC	protein_coding	OTTHUMT00000453557.1	G	XM_001720258		37239538	-1	no_errors	ENST00000591344	ensembl	human	known	70_37	nonsense	SNP	0.000	A
ZNF845	91664	genome.wustl.edu	37	19	53854421	53854421	+	Missense_Mutation	SNP	G	G	C			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:53854421G>C	ENST00000595091.1	+	5	712	c.493G>C	c.(493-495)Gag>Cag	p.E165Q	ZNF845_ENST00000458035.1_Missense_Mutation_p.E165Q			Q96IR2	ZN845_HUMAN	zinc finger protein 845	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATCAAGTTGAGAAGTCTAT	0.393																																																	0													70.0	49.0	56.0					19																	53854421		692	1591	2283	SO:0001583	missense	91664			BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.493G>C	19.37:g.53854421G>C	ENSP00000470005:p.Glu165Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E165Q	ENST00000595091.1	37	c.493	CCDS46170.1	19	.	.	.	.	.	.	.	.	.	.	G	2.128	-0.399784	0.04865	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.09073	3.02	1.2	0.0182	0.14116	.	.	.	.	.	T	0.08626	0.0214	L	0.58969	1.84	0.09310	N	1	B	0.14012	0.009	B	0.17433	0.018	T	0.33420	-0.9869	9	0.41790	T	0.15	.	4.805	0.13316	0.0:0.2325:0.5328:0.2347	.	165	Q96IR2	ZN845_HUMAN	Q	165	ENSP00000388311:E165Q	ENSP00000412086:E165Q	E	+	1	0	ZNF845	58546233	0.064000	0.20934	0.003000	0.11579	0.025000	0.11179	0.738000	0.26158	0.050000	0.15949	0.411000	0.27672	GAG	ZNF845	-	NULL		0.393	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	ZNF845	HGNC	protein_coding	OTTHUMT00000464359.1	G	XM_039908		53854421	+1	no_errors	ENST00000458035	ensembl	human	known	70_37	missense	SNP	0.000	C
ZNF8	7554	genome.wustl.edu	37	19	58806852	58806852	+	Missense_Mutation	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:58806852G>A	ENST00000196548.5	+	4	1809	c.1678G>A	c.(1678-1680)Gag>Aag	p.E560K	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.E560K			P17098	ZNF8_HUMAN	zinc finger protein 8	560					BMP signaling pathway (GO:0030509)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TGGGGTGGAAGAGCCTTCTGT	0.453																																																	0													46.0	47.0	47.0					19																	58806852		2184	4267	6451	SO:0001583	missense	7554			M29581	CCDS12974.1	19q13.43	2013-01-08	2006-05-09					"""Zinc fingers, C2H2-type"", ""-"""	13154	protein-coding gene	gene with protein product		194532	"""zinc finger protein 8 (clone HF.18)"""			2106481	Standard	NM_021089		Approved	HF.18, Zfp128	uc002qry.1	P17098		ENST00000196548.5:c.1678G>A	19.37:g.58806852G>A	ENSP00000196548:p.Glu560Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PI99	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E560K	ENST00000196548.5	37	c.1678	CCDS12974.1	19	.	.	.	.	.	.	.	.	.	.	G	22.6	4.305005	0.81247	.	.	ENSG00000083842	ENST00000196548;ENST00000546178	T	0.08720	3.06	4.57	3.54	0.40534	.	0.000000	0.48286	D	0.000196	T	0.03434	0.0099	N	0.19112	0.55	0.37781	D	0.927016	P	0.39480	0.675	B	0.35353	0.201	T	0.35276	-0.9795	10	0.02654	T	1	-21.2247	5.2323	0.15428	0.2601:0.0:0.7399:0.0	.	560	P17098	ZNF8_HUMAN	K	560;275	ENSP00000196548:E560K	ENSP00000196548:E560K	E	+	1	0	ZNF8	63498664	0.516000	0.26218	1.000000	0.80357	0.927000	0.56198	2.171000	0.42453	2.545000	0.85829	0.456000	0.33151	GAG	ZNF8	-	NULL		0.453	ZNF8-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	ZNF8	HGNC	protein_coding	OTTHUMT00000459135.1	G	NM_021089		58806852	+1	no_errors	ENST00000196548	ensembl	human	known	70_37	missense	SNP	1.000	A
ZNFX1	57169	genome.wustl.edu	37	20	47872368	47872368	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr20:47872368G>A	ENST00000396105.1	-	9	3027	c.2781C>T	c.(2779-2781)ctC>ctT	p.L927L	ZNFX1_ENST00000371752.1_Silent_p.L927L|ZNFX1_ENST00000371754.4_Silent_p.L927L	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	927							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCGAGAACTGAGGTCCAGCT	0.483																																																	0													179.0	129.0	146.0					20																	47872368		2203	4300	6503	SO:0001819	synonymous_variant	57169			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2781C>T	20.37:g.47872368G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Silent	SNP	superfamily_ARM-type_fold,smart_Znf_NFX1	p.L927	ENST00000396105.1	37	c.2781	CCDS13417.1	20																																																																																			ZNFX1	-	NULL		0.483	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2	G	NM_021035		47872368	-1	no_errors	ENST00000371752	ensembl	human	known	70_37	silent	SNP	0.990	A
ZSCAN22	342945	genome.wustl.edu	37	19	58850041	58850041	+	Silent	SNP	G	G	A			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr19:58850041G>A	ENST00000329665.4	+	3	972	c.825G>A	c.(823-825)aaG>aaA	p.K275K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	275					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		AGTGTAGGAAGATGTTCCAGA	0.547																																																	0													186.0	189.0	188.0					19																	58850041		2203	4300	6503	SO:0001819	synonymous_variant	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.825G>A	19.37:g.58850041G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15922|Q7Z3L8	Silent	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.K275	ENST00000329665.4	37	c.825	CCDS12975.1	19																																																																																			ZSCAN22	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.547	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN22	HGNC	protein_coding	OTTHUMT00000466765.1	G	NM_181846		58850041	+1	no_errors	ENST00000329665	ensembl	human	known	70_37	silent	SNP	0.121	A
ZSCAN29	146050	genome.wustl.edu	37	15	43662089	43662089	+	Missense_Mutation	SNP	C	C	G			TCGA-EK-A3GK-01A-11D-A20U-09	TCGA-EK-A3GK-10A-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52a083c8-1fab-4231-ba39-ed198964c290	0e28e4ed-b9a6-4d94-94a4-a2bcaed053fa	g.chr15:43662089C>G	ENST00000396976.2	-	1	157	c.23G>C	c.(22-24)aGa>aCa	p.R8T	TUBGCP4_ENST00000570081.1_Intron|ZSCAN29_ENST00000568898.1_Missense_Mutation_p.R7T|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.R7T|ZSCAN29_ENST00000563508.1_5'Flank|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.R8T|TUBGCP4_ENST00000564079.1_5'Flank|TUBGCP4_ENST00000260383.7_5'Flank	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	8					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GCCATTCTCTCTTAGAGCTGA	0.517																																																	0													79.0	76.0	77.0					15																	43662089		2201	4299	6500	SO:0001583	missense	146050			AF525399	CCDS10095.2	15q15.3	2013-01-08	2007-03-08	2007-03-08	ENSG00000140265	ENSG00000140265		"""-"", ""Zinc fingers, C2H2-type"""	26673	protein-coding gene	gene with protein product			"""zinc finger protein 690"""	ZNF690		12434312	Standard	NM_152455		Approved	FLJ35867, Zfp690	uc001zrk.1	Q8IWY8	OTTHUMG00000130767	ENST00000396976.2:c.23G>C	15.37:g.43662089C>G	ENSP00000380174:p.Arg8Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVB9|Q32M75|Q32M76|Q8NA40	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.R8T	ENST00000396976.2	37	c.23	CCDS10095.2	15	.	.	.	.	.	.	.	.	.	.	C	11.79	1.743266	0.30865	.	.	ENSG00000140265	ENST00000396976;ENST00000396972	T;T	0.08282	3.11;3.13	4.79	3.86	0.44501	.	0.000000	0.48286	D	0.000194	T	0.13670	0.0331	L	0.58428	1.81	0.80722	D	1	B;P;P;B	0.48911	0.403;0.79;0.917;0.421	B;B;P;B	0.52217	0.12;0.379;0.693;0.056	T	0.00294	-1.1840	10	0.40728	T	0.16	-15.1912	6.5283	0.22312	0.0:0.8108:0.0:0.1892	.	8;7;8;8	Q8IWY8-4;C9K0J8;Q8IWY8-3;Q8IWY8	.;.;.;ZSC29_HUMAN	T	8	ENSP00000380174:R8T;ENSP00000380170:R8T	ENSP00000380170:R8T	R	-	2	0	ZSCAN29	41449381	0.991000	0.36638	1.000000	0.80357	0.786000	0.44442	0.266000	0.18534	2.632000	0.89209	0.655000	0.94253	AGA	ZSCAN29	-	NULL		0.517	ZSCAN29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN29	HGNC	protein_coding	OTTHUMT00000253278.1	C	NM_152455		43662089	-1	no_errors	ENST00000396976	ensembl	human	known	70_37	missense	SNP	1.000	G
